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Transcript of Handnotes OCP 103
1 Pediatric conditions Hand notes
Pediatric
conditions
Hand Book:
OCP 103
2 Pediatric conditions Hand notes
CHAPTERS TITLES
1
CHILDREN WITH
PHYSICAL CONDITIONS
CONGENITAL
ANOMALIES
Skeletal defects affecting
the nervous system:
Spina bifida
Hydrocephalus
Orthopaedic anomalies:
Osteogenesis
imprefecta
Arthrogryposis
Multiplex Congenital
Talipes Equinovarus
Torticollis
Congenital Hip
Dislocation
Sequelae of Prematurity
Hypotonia
Neuromuscular Disorder
Cerebral palsy
Chronic Diseases
Chronic Cardiac
Condition
Traumatic Injuries
Fractures
Head Injuries
Sensory Impairments
2 Children with movement
disorder
Ataxia
Cortixcobasal
degeneration
Dyskinesis(paroxysm
al)
Dystonia
Hereditary spastic
diplegia
Myoclonus
Torticollis
Tics/ tourette’s
syndrome
Rett syndrome
3
Children With
Developmental Disabilities
Down’s syndrome
4 Children with Cognitive
Dysfunctions
Mental retardation
Autism
Attention deficit
disorder(ADD)
Attention deficit
hyperactivity
disorder(ADHD)
5 Children with sensory
deficits
Deafness
Visual receptive
deficit
Visual perceptive
deficit
Head injury
Deaf and blind
3 Pediatric conditions Hand notes
Congenital Anomalies
Definition
A congenital anomaly (congenital
abnormality, congenital malformation, birth
defect) is a condition which is present at the
time of birth which varies from the standard
presentation
Causes
The cause of 40-60% of congenital
anomalies in humans is unknown. These are
referred to as sporadic, a term that implies
an unknown cause, random occurrence
regardless of maternal living conditions, and
a low recurrence risk for future children. For
20-25% of anomalies there seems to be a
"multifactorial" cause, meaning a complex
interaction of multiple minor genetic
anomalies with environmental risk factors.
Another 10-13% of anomalies have a purely
environmental cause (e.g. Infections, illness,
or drug abuse in the mother). Only 12-25%
of anomalies have a purely genetic cause. Of
these, the majority are chromosomal
anomalies.
Genetic causes of congenital anomalies
include inheritance of abnormal genes from
the parents, as well as new mutations in one
of the germ cells that gave rise to the fetus.
Environmental causes of congenital
anomalies are referred to as teratogenic.
These are generally problems with the
mother's environment. Teratogens can
include dietary deficiencies, toxins, or
infections. For example, dietary deficiency
of maternal folic acid is associated with
spina bifida. Ingestion of harmful substances
by the mother (e.g., alcohol, mercury, or
prescription drugs such as phenytoin) can
cause recognizable combinations of birth
defects.
Several infections which a mother can
contract during pregnancy can also be
teratogenic. These are referred to as the
torch infections.
Teratogens
The greatest risk of a malformation due to
environmental exposure to a teratogen
(terato = monster, gen = producing) between
the third and eighth week of gestation.
Before this time, any damage to the embryo
is likely to result in fatality, and the baby
will not be born. After eight weeks, the fetus
and its organs are more developed and less
sensitive to terotogenic incidents.
4 Pediatric conditions Hand notes
Type of congenital anomalies
-a limb anomaly is called a dysmelia. These
include all forms of limbs anomalies, such
as amelia, ectrodactyly, phocomelia,
polymelia, polydactyly, syndactyly,
polysyndactyly, oligodactyly,
brachydactyly, achondroplasia, congenital
aplasia or hypoplasia, amniotic band
syndrome, and cleidocranial dysostosis.
Congenital anomalies of the heart include
patent ductus arteriosus, atrial septal defect,
ventricular septal defect, and tetralogy of
fallot. Helen taussig has been a major force
in research on congenital anomalies of the
heart.
Congenital anomalies of the nervous system
include neural tube defects such as spina
bifida, meningocele, meningomyelocele,
encephalocele and anencephaly. Other
congenital anomalies of the nervous system
include the arnold-chiari malformation, the
dandy-walker malformation, hydrocephalus,
microencephaly, megencephaly,
lissencephaly, polymicrogyria,
holoprosencephaly, and agenesis of the
corpus callosum.
Congenital anomalies of the gastrointestinal
system include numerous forms of stenosis
and atresia, and imperforate.
Primarily structural
Several terms are used to describe
congenital abnormalities. (some of these are
also used to describe noncongenital
conditions, and more than one term may
apply in an individual condition.)
A congenital physical anomaly is an
abnormality of the structure of a body
part. An anomaly may or may not be
perceived as a problem condition. Many,
if not most, people have one or more
minor physical anomalies if examined
carefully. Examples of minor anomalies
can include curvature of the 5th finger
(clinodactyly), a third nipple, tiny
indentations of the skin near the ears
(preauricular pits), shortness of the 4th
metacarpal or metatarsal bones, or
dimples over the lower spine (sacral
dimples). Some minor anomalies may be
clues to more significant internal
abnormalities.
Birth defect is a widely used term for a
congenital malformation, i.e. A
congenital, physical anomaly which is
recognizable at birth, and which is
significant enough to be considered a
problem. According to the cdc, most
birth defects are believed to be caused
by a complex mix of factors including
5 Pediatric conditions Hand notes
genetics, environment, and behaviors,
although many birth defects have no
known cause. An example of a birth
defect is cleft palate.
A congenital malformation is a
congenital physical anomaly that is
deleterious, i.e. A structural defect
perceived as a problem. A typical
combination of malformations affecting
more than one body part is referred to as
a malformation syndrome.
Some conditions are due to abnormal
tissue development:
o A malformation is associated with
a disorder of tissue development.
Malformations often occur in the
first trimester.
o A dysplasia is a disorder at the
organ level that is due to problems
with tissue development.
It is also possible for conditions to arise
after tissue is formed:
o A deformation is a condition
arising from mechanical stress to
normal tissue deformations often
occur in the second or third
semester, and can be due to
oligohydramnios.
A disruption involves breakdown of
normal tissues.
When multiple effects occur in a
specified order, it is known as a
sequence. When the order is not known,
it is a syndrome.
Causes of fetal malformation:
Several factors are known to produces
malformations of the developing fetus.
These are environmental factors like use of
drugs, radiation, viruses, genetic traits in one
or both parents, and as interaction of the
environmental and hereditary influences.
Nurses are mainly concerned with the
environmental influences since they are
controllable in many instances so that birth
defects can be prevented.
1. Drugs:
Drugs in general carry such a potential
for the production of birth defects that their
use during pregnancy is strongly
discouraged. Use of street drugs like heroin
or hashish by pregnant women could be
responsible for soon congenital anomalies.
Alcohol also appears to influence fetal
development and its excessive use during
pregnancy can produce fetal malformations.
2. Radiation:
Exposure of the mother to radiation
has been shown to cause birth defects,
the earlier in pregnancy the exposure,
6 Pediatric conditions Hand notes
the more extensive is the fetal damage.
Exposure at later gestational stages
may result in less apparent deviations.
Atmospheric or environmental radio
contamination also contributes to the
risk of fetal deviations (as in nuclear
accidents or testing of nuclear
weapons).
3. Viruses:
Like rubella virus (that causes
german measles). Whether infection of
the mother during pregnancy procedures
deformities in the fetus depends upon the
nature of the infectious organism, the
development stage of the fetus at the
time it is exposed to the organism; other
factors such as the mother‘s antibody
titer and other variables not yet
understood.
4. Genetic traits:
Probably all human characteristics
have a genetic component, including those
that produce symptoms or physical
abnormalities that impair the fitness of the
person. Some disorder or disease occurs
through the influence of a single gene or
combined action of many genes inherited
from the parents; others result from the
action of the intrauterine environment that
affects the embryonic development.
Note: contained within the nucleus of every
somatic cell in the human body are more
than 200.000 genes, the genetic material
responsible for programming the body‘s
physiologic process and characteristics.
These genes are composed of segments of
dna (deoxyribonucleic acid) and are
organized into structure called
chromosomes, which are visible only during
certain stage of cell division. Alteration of a
whole chromosome, a part of a chromosome
or even a single gene can manifest a genetic
disorder.
Defects
Skeletal defects affecting the nervous
system:
1. Spina bifida: is a defective closure of the
vertebral column. Whether the defect will
have devastating consequences for the
neonates depends entirely on the site and the
extent of the anomaly. It is more common in
the lumbo sacral region. It has varying
degree of tissue protrusion through the bony
cleft.
2. Spina bifida occulta: usually the 5th
lumber and 1st sacral vertebrae are affected
with no protrusion of interspinal contents the
spinal cord and its cover the skin over the
defect may reveal a dimple, small fatty
mass, or a tuft of hair. The defect is only in
7 Pediatric conditions Hand notes
the vertebra, the spinal cord and meneiges is
normal and not visible.
3. Meningocle: is a protrusion through the
spinal bifida, which forms a soft, saclike
appearance along the spinal axis and
contains spinal fluid and meninges within
the sac and covered with skin.
4. Meningomyelocele: is a more serious
defect in which the spinal cord and /or nerve
roots as well as meningoel covering protrude
through the spina bifida. The degree and
extent of neurogenice defect depend on the
level of the defect. The higher the level the
greater the defect. If in the lumbosacral area,
the usual of the defect is associated with a
flaccid paralysis of the lower extremities,
absent sensation to the level of the lesion,
and loss of bowel and bladder control.
5. Hydrocephalus: the abnormal increase in
cerebrospinal fluid volume within the
intracranial cavity due to a defect in the
cerebrospinal fluid drainage system,
intracranial pressure increases, the scalp
veins dilate, and the cranial suture begin to
separate.
8 Pediatric conditions Hand notes
Spina bifida
Definition:
Spina bifida (Latin: "split spine") is a
developmental congenital disorder caused
by the incomplete closing of the embryonic
neural tube.
Some vertebrae overlying the spinal cord are
not fully formed and remain unfused and
open. If the opening is large enough, this
allows a portion of the spinal cord to
protrude through the opening in the bones.
There may or may not be a fluid-filled sac
surrounding the spinal cord. Other neural
tube defects include anencephaly, a
condition in which the portion of the neural
tube which will become the cerebrum does
not close, and encephalocele, which results
when other parts of the brain remain
unfused.
Spina bifida malformations fall into four
categories:
spina bifida occulta,
spina bifida cystica
(myelomeningocele),
meningocele and
lipomeningocele.
The most common location of the
malformations is the lumbar and sacral
areas. Myelomeningocele is the most
significant form and it is this that leads to
disability in most affected individuals. The
terms spina bifida and myelomeningocele
are usually used interchangeably.
Spina bifida can be surgically closed after
birth, but this does not restore normal
function to the affected part of the spinal
cord. Intrauterine surgery for spina bifida
has also been performed and the safety and
efficacy of this procedure is currently being
investigated. The incidence of spina bifida
can be decreased by up to 70% when daily
folic acid supplements are taken prior to
conception.
Spina bifida occulta
X-ray image of Spina bifida occulta in S-1
Unfused arch of C1 at CT.
Classification
Occulta is Latin for "hidden". This is
the mildest forms of spina bifida.
In occulta, the outer part of some of
the vertebrae is not completely
closed. The split in the vertebrae is
so small that the spinal cord does not
protrude. The skin at the site of the
lesion may be normal, or it may have
9 Pediatric conditions Hand notes
some hair growing from it; there may
be a dimple in the skin, or a
birthmark.
Many people with the mildest form
of this type of spina bifida do not
even know they have it, as the
condition is asymptomatic in most
cases. The incidence of spina bifida
occulta is approximately 10% of the
population, and most people are
diagnosed incidentally from spinal
X-rays. A systematic review of
radiographic research studies found
no relationship between spina bifida
occulta and back pain. More recent
studies not included in the review
support the negative findings.
However, other studies suggest spina
bifida occulta is not always harmless.
One study found that among patients
with back pain, severity is worse if
spina bifida occulta is present.
Spina bifida cystica
In spina bifida cystica, a cyst
protrudes through the defect in the
vertebral arch. These conditions can
be diagnosed in utero on the basis of
elevated levels of alpha-fetoprotein,
after amniocentesis, and by
ultrasound imaging. Spina bifida
cystica may result in hydrocephalus
and neurological deficits.
Meningocele
The least common form of spina
bifida is a posterior meningocele (or
meningeal cyst).
In a posterior meningocele, the
vertebrae develop normally, however
the meninges are forced into the gaps
between the vertebrae. As the
nervous system remains undamaged,
individuals with meningocele are
unlikely to suffer long-term health
problems, although there are reports
of tethered cord. Causes of
meningocele include teratoma and
other tumors of the sacrococcyx and
of the presacral space, and Currarino
syndrome, Bony defect with
outpouching of meninges.[11]
A meningocele may also form
through dehiscences in the base of
skull. These may be classified by
their localisation to occipital,
frontoethmoidal, or nasal. Endonasal
meningoceles lie at the roof of the
nasal cavity and may be mistaken for
a nasal polyp. They are treated
surgically. Encephalomeningoceles
are classified in the same way and
also contain brain tissue.
Myelomeningocele
Myelomeningocele in the lumbar area.
1. External sac with cerebrospinal fluid.
2. Spinal cord wedged between the
vertebrae.
In this, a serious and common form,
the unfused portion of the spinal
10 Pediatric conditions Hand notes
column allows the spinal cord to
protrude through an opening. The
meningeal membranes that cover the
spinal cord form a sac enclosing the
spinal elements. Spina bifida with
myeloschisis is the most severe form
of spina bifida cystica. In this defect,
the involved area is represented by a
flattened, plate-like mass of nervous
tissue with no overlying membrane.
The exposure of these nerves and
tissues make the baby more prone to
life-threatening infections.
The protruded portion of the spinal
cord and the nerves which originate
at that level of the cord are damaged
or not properly developed. As a
result, there is usually some degree
of paralysis and loss of sensation
below the level of the spinal cord
defect. Thus, the higher the level of
the defect the more severe the
associated nerve dysfunction and
resultant paralysis. People may have
ambulatory problems, loss of
sensation, deformities of the hips,
knees or feet and loss of muscle tone.
Depending on the location of the
lesion, intense pain may occur
originating in the lower back, and
continuing down the leg to the back
of the knee.]
Many individuals with spina bifida
will have an associated abnormality
of the cerebellum, called the Arnold
Chiari II malformation. In affected
individuals the back portion of the
brain is displaced from the back of
the skull down into the upper neck.
In approximately 90 percent of the
people with myelomeningocele,
hydrocephalus will also occur
because the displaced cerebellum
interferes with the normal flow of
cerebrospinal fluid.
The myelomeningocele (or perhaps
the scarring due to surgery) tethers
the spinal cord. In some individuals
this causes significant traction on the
spinal cord and can lead to a
worsening of the paralysis, scoliosis,
back pain, or worsening bowel
and/or bladder function.[14]
Signs and symptoms
Children with spina bifida often have
hydrocephalus, which consists of
excessive accumulation of
cerebrospinal fluid in the ventricles
of the brain.
Incontinence is also common.
According to the Spina Bifida
Association of America (SBAA),
over 73 percent of people with spina
bifida develop an allergy to latex,
ranging from mild to life-
threatening. The common use of
latex in medical facilities makes this
a particularly serious concern.
Pathophysiology
Spina bifida is caused by the failure
of the neural tube to close during the
first month of embryonic
development (often before the
mother knows she is pregnant).
Normally the closure of the neural
tube occurs around the 23rd (rostral
closure) and 27th (caudal closure)
day after fertilization. However, if
something interferes and the tube
fails to close properly, a neural tube
defect will occur. Medications such
as some anticonvulsants, diabetes,
having a relative with spina bifida,
obesity, and an increased body
temperature from fever or external
sources such as hot tubs and electric
blankets may increase the chances of
11 Pediatric conditions Hand notes
conception of a baby with a spina
bifida. However, most women who
give birth to babies with spina bifida
have none of these risk factors, and
so in spite of much research, it is still
unknown what causes the majority of
cases.]
Extensive evidence from mouse
strains with spina bifida indicates
that there is sometimes a genetic
basis for the condition. In human
spina bifida, as with other human
diseases such as cancer, hypertension
and atherosclerosis (coronary artery
disease), spina bifida likely results
from the interaction of multiple
genes and environmental factors.
Research has shown that lack of folic
acid (folate) is a contributing factor
in the pathogenesis of neural tube
defects, including spina bifida.
Supplementation of the mother's diet
with folate can reduce the incidence
of neural tube defects by about 70
percent, and can also decrease the
severity of these defects when they
occur. It is unknown how or why
folic acid has this effect.
Spina bifida does not follow direct
patterns of heredity like muscular
dystrophy or haemophilia. Studies
show that a woman, who has had one
child with a neural tube defect such
as spina bifida, has about a three
percent risk of having another child
with a neural tube defect. This risk
can be reduced to about one percent
if the woman takes high doses (4
mg/day) of folic acid before and
during pregnancy. For the general
population, low-dose folic acid
supplements are advised
(0.4 mg/day).
Prevention
There is no single cause of spina
bifida or any known way to prevent
it entirely. However, dietary
supplementation with folic acid has
been shown to be helpful in
preventing spina bifida (see above).
Sources of folic acid include whole
grains, fortified breakfast cereals,
dried beans, leaf vegetables and
fruits[
Folate fortification of enriched grain
products has been mandatory in the
United States since 1998. The U.S.
Food and Drug Administration,
Public Health Agency of Canada and
UK recommended amount of folic
acid for women of childbearing age
and women planning to become
pregnant is at least 0.4 mg/day of
folic acid from at least three months
before conception, and continued for
the first 12 weeks of pregnancy.
Women who have already had a
baby with spina bifida or other type
of neural tube defect, or are taking
anticonvulsant medication should
take a higher dose of 4–5 mg/day.
Certain mutations in the gene
VANGL1 are implicated as a risk
factor for spina bifida: these
mutations have been linked with
spina bifida in some families with a
history of spina bifida.
Pregnancy screening
Neural tube defects can usually be
detected during pregnancy by testing
the mother's blood (AFP screening)
or a detailed fetal ultrasound.
Increased levels of maternal serum
alpha-fetoprotein (MSAFP) should
be followed up by two tests - an
ultrasound of the fetal spine and
12 Pediatric conditions Hand notes
amniocentesis of the mother's
amniotic fluid (to test for alpha-
fetoprotein and acetylcholinesterase).
Spina bifida may be associated with
other malformations as in
dysmorphic syndromes, often
resulting in spontaneous miscarriage.
However, in the majority of cases
spina bifida is an isolated
malformation.
Genetic counseling and further
genetic testing, such as
amniocentesis, may be offered
during the pregnancy as some neural
tube defects are associated with
genetic disorders such as trisomy 18.
Ultrasound screening for spina bifida
is partly responsible for the decline
in new cases, because many
pregnancies are terminated out of
fear that a newborn might have a
poor future quality of life. With
modern medical care, the quality of
life of patients has greatly
improved.[16]
Treatment
There is no known cure for nerve
damage due to spina bifida. To
prevent further damage of the
nervous tissue and to prevent
infection, pediatric neurosurgeons
operate to close the opening on the
back. During the operation for spina
bifida cystica, the spinal cord and its
nerve roots are put back inside the
spine and covered with meninges. In
addition, a shunt may be surgically
installed to provide a continuous
drain for the cerebrospinal fluid
produced in the brain, as happens
with hydrocephalus. Shunts most
commonly drain into the abdomen.
However, if spina bifida is detected
during pregnancy, then open fetal
surgery can be performed.
Most individuals with
myelomeningocele will need
periodic evaluations by specialists
including orthopedists to check on
their bones and muscles,
neurosurgeons to evaluate the brain
and spinal cord and urologists for the
kidneys and bladder. Such care is
best begun immediately after birth.
Most affected individuals will need
to see an orthotist in regards to
braces, crutches, walkers or
wheelchairs to maximize their
mobility. As a general rule, the
higher the level of the spina bifida
defect the more severe the paralysis,
but paralysis does not always occur.
Thus, those with low levels may
need only short leg braces while
those with higher levels do best with
a wheelchair, and some may be able
to walk unaided. Many will need to
manage their urinary system with a
program of catheterization. Most will
also require some sort of bowel
management program, though some
may be virtually unaffected.
Fetal surgery clinical trials
Management of Myelomeningocele Study
(MOMS) is a phase III clinical trial to
evaluate the safety and efficacy of fetal
surgery to close a myelomeningocele. This
involves surgically opening the pregnant
mother's abdomen and uterus to operate on
the fetus. This route of access to the fetus is
called "open fetal surgery". Fetal skin grafts
are used to cover the exposed spinal cord, to
protect it from further damage caused by
prolonged exposure to amniotic fluid. The
fetal surgery may decrease some of the
damaging effects of the spina bifida, but at
13 Pediatric conditions Hand notes
some risk to both the fetus and the pregnant
woman.
The MOMS trial was closed for efficacy in
December 2010 based on comparing
outcomes after prenatal and postnatal repair
in 183 patients.
The trial demonstrated that outcomes after
prenatal spina bifida treatment are improved
to the degree that the benefits of the surgery
outweigh the maternal risks. Results were
reported in the New England Journal of
Medicine by Adzick et al.
Specifically, the study found that prenatal
repair resulted in:
Reversal of the hindbrain herniation
component of the Chiari II malformation
Reduced need for ventricular shunting (a
procedure in which a thin tube is
introduced into the brain‘s ventricles to
drain fluid and relieve hydrocephalus)
Reduced incidence or severity of
potentially devastating neurologic
effects caused by the spine‘s exposure to
amniotic fluid, such as impaired motor
function
In contrast to the open fetal operative
approach tested in the MOMS, a minimally
invasive approach is currently being tested
by the German Center for Fetal Surgery &
Minimally Invasive Therapy at the
University of Giessen, Germany.[ This
minimally invasive approach uses three
small tubes (trocars) with an external
diameter of 5 mm that are directly placed via
small needle punctures through the maternal
abdominal wall into the uterine cavity. Via
this route, the unborn can be postured and its
spina bifida defect is closed using small
instruments. In contrast to open fetal surgery
for spina bifida, the fetoscopic approach
results in fewer traumas to the mother as
large incisions of her abdomen and uterus
are not required. Early results indicate that
the approach may maintain the fetal
muscular and sensory function that is still
present at the time of fetal surgery,
regardless of lesion height.
References:
1. "What Is Spina Bifida?". ASBAH.
http://www.asbah.org/Spina+Bifida/i
nformationsheets/whatisspinabifida.h
tm. Retrieved 2009-02-14.
2. Foster, Mark R. "Spina Bifida".
http://www.emedicine.com/orthoped/
TOPIC557.HTM. Retrieved 2008-
05-17.
3. "Spina Bifida Occulta". ASBAH.
http://www.asbah.org/Spina+Bifida/i
nformationsheets/spinabifidaocculta.
htm. Retrieved 2009-02-14.
4. Saluja PG (1988). "The incidence of
spina bifida occulta in a historic and
a modern London population.". J
Anat. 158: 91–93. PMC 1261979.
5. van Tulder MW, Assendelft WJ,
Koes BW, Bouter LM (1997).
"Spinal radiographic findings and
nonspecific low back pain. A
systematic review of observational
studies". Spine 22 (4): 427–34.
doi:10.1097/00007632-199702150-
00015. PMID 9055372.
14 Pediatric conditions Hand notes
Hydrocephalus
Hydrocephalus also known as "water on the
brain," is a medical condition in which there
is an abnormal accumulation of
cerebrospinal fluid (CSF) in the ventricles,
or cavities, of the brain. This may cause
increased intracranial pressure inside the
skull and progressive enlargement of the
head, convulsion, tunnel vision, and mental
disability. Hydrocephalus can also cause
death.
Clinical presentation
The clinical presentation of hydrocephalus
varies with chronicity. Acute dilatation of
the ventricular system is more likely to
manifest with the nonspecific signs and
symptoms of increased intracranial pressure.
By contrast chronic dilatation (especially in
the elderly population) may have a more
insidious onset presenting, for instance, with
Hakim's triad (Adams triad).
Symptoms of increased intracranial pressure
may include headaches, vomiting, nausea,
papilledema, sleepiness or coma. Elevated
intracranial pressure may result in uncal
and/or cerebellar tonsill herniation, with
resulting life threatening brain stem
compression.
Hakim's triad of gait instability, urinary
incontinence and dementia is a relatively
typical manifestation of the distinct entity
normal pressure hydrocephalus (NPH).
Focal neurological deficits may also occur,
such as abducens nerve palsy and vertical
gaze palsy (Parinaud syndrome due to
compression of the quadrigeminal plate,
where the neural centers coordinating the
conjugated vertical eye movement are
located). The symptoms depend on the cause
of the blockage, the person's age, and how
much brain tissue has been damaged by the
swelling.
In infants with hydrocephalus, CSF builds
up in the central nervous system, causing the
fontanelle (soft spot) to bulge and the head
to be larger than expected. Early symptoms
may also include:
Eyes that appear to gaze downward
(Sundowning)
Irritability
Seizures
Separated sutures
Sleepiness
Vomiting
Symptoms that may occur in older children
can include:
Brief, shrill, high-pitched cry
Changes in personality, memory, or the
ability to reason or think
Changes in facial appearance and eye
spacing
Crossed eyes or uncontrolled eye
movements
Difficulty feeding
Excessive sleepiness
Headache
Irritability, poor temper control
Loss of bladder control (urinary
incontinence)
Loss of coordination and trouble
walking
Muscle spasticity (spasm)
Slow growth (child 0–5 years)
Slow or restricted movement
Vomiting
Pathology
Hydrocephalus is usually due to
blockage of cerebrospinal fluid
(CSF) outflow in the ventricles or in
the subarachnoid space over the
15 Pediatric conditions Hand notes
brain. In a person without
hydrocephalus, CSF continuously
circulates through the brain, its
ventricles and the spinal cord and is
continuously drained away into the
circulatory system. Alternatively, the
condition may result from an
overproduction of the CSF fluid,
from a congenital malformation
blocking normal drainage of the
fluid, or from complications of head
injuries or infections.
Compression of the brain by the
accumulating fluid eventually may
cause convulsions and mental
retardation. These signs occur sooner
in adults, whose skulls no longer are
able to expand to accommodate the
increasing fluid volume within.
Fetuses, infants, and young children
with hydrocephalus typically have an
abnormally large head, excluding the
face, because the pressure of the
fluid causes the individual skull
bones — which have yet to fuse —
to bulge outward at their juncture
points. Another medical sign, in
infants, is a characteristic fixed
downward gaze with whites of the
eyes showing above the iris, as
though the infant were trying to
examine its own lower eyelids.
Spontaneous intracerebral and
intraventricular hemorrhage with
hydrocephalus shown on CT scan
The elevated intracranial pressure
may cause compression of the brain,
leading to brain damage and other
complications. Conditions among
affected individuals vary widely.
If the foramina (pl.) of the fourth
ventricle or the cerebral aqueduct are
blocked, cereobrospinal fluid (CSF)
can accumulate within the ventricles.
This condition is called internal
hydrocephalus and it results in
increased CSF pressure. The
production of CSF continues, even
when the passages that normally
allow it to exit the brain are blocked.
Consequently, fluid builds inside the
brain causing pressure that
compresses the nervous tissue and
dilates the ventricles. Compression
of the nervous tissue usually results
in irreversible brain damage. If the
skull bones are not completely
ossified when the hydrocephalus
occurs, the pressure may also
severely enlarge the head. The
cerebral aqueduct may be blocked at
the time of birth or may become
blocked later in life because of a
tumor growing in the brainstem.
Internal hydrocephalus can be
successfully treated by placing a
drainage tube (shunt) between the
brain ventricles and abdominal
cavity to eliminate the high internal
pressures. There is some risk of
infection being introduced into the
brain through these shunts, however,
and the shunts must be replaced as
the person grows. A subarachnoid
hemorrhage may block the return of
CSF to the circulation. If CSF
accumulates in the subarachnoid
16 Pediatric conditions Hand notes
space, the condition is called
external hydrocephalus. In this
condition, pressure is applied to the
brain externally, compressing neural
tissues and causing brain damage.
Thus resulting in further damage of
the brain tissue and leading to
necrotization.
Classification
Hydrocephalus can be caused by impaired
cerebrospinal fluid (CSF) flow,
reabsorption, or excessive CSF production.
The most common cause of
hydrocephalus is CSF flow obstruction,
hindering the free passage of
cerebrospinal fluid through the
ventricular system and subarachnoid
space (e.g., stenosis of the cerebral
aqueduct or obstruction of the
interventricular foramina - foramina of
Monro secondary to tumors,
hemorrhages, infections or congenital
malformations).
Hydrocephalus can also be caused by
overproduction of cerebrospinal fluid
(relative obstruction) (e.g., papilloma of
choroid plexus).
Based on its underlying mechanisms,
hydrocephalus can be classified into
communicating and non-communicating
(obstructive). Both forms can be either
congenital or acquired.
Communicating
Communicating hydrocephalus, also known
as non-obstructive hydrocephalus, is caused
by impaired cerebrospinal fluid resorption in
the absence of any CSF-flow obstruction
between the ventricles and subarachnoid
space. It has been theorized that this is due
to functional impairment of the arachnoid
granulations, which are located along the
superior sagittal sinus and is the site of
cerebrospinal fluid resorption back into the
venous system. Various neurologic
conditions may result in communicating
hydrocephalus, including
subarachnoid/intraventricular hemorrhage,
meningitis and congenital absence of
arachnoidal granulations (Pacchioni's
granulations). Scarring and fibrosis of the
subarachnoid space following infectious,
inflammatory, or hemorrhagic events can
also prevent resorption of CSF, causing
diffuse ventricular dilatation.
Normal pressure hydrocephalus (NPH)
is a particular form of communicating
hydrocephalus, characterized by
enlarged cerebral ventricles, with only
intermittently elevated cerebrospinal
fluid pressure. The diagnosis of NPH
can be established only with the help of
continuous intraventricular pressure
recordings (over 24 hours or even
longer), since more often than not
instant measurements yield normal
pressure values. Dynamic compliance
studies may be also helpful. Altered
compliance (elasticity) of the ventricular
walls, as well as increased viscosity of
the cerebrospinal fluid, may play a role
in the pathogenesis of normal pressure
hydrocephalus.
Hydrocephalus ex vacuo also refers to
an enlargement of cerebral ventricles
and subarachnoid spaces, and is usually
due to brain atrophy (as it occurs in
dementias), post-traumatic brain injuries
and even in some psychiatric disorders,
such as schizophrenia. As opposed to
hydrocephalus, this is a compensatory
enlargement of the CSF-spaces in
response to brain parenchyma loss - it is
not the result of increased CSF pressure.
17 Pediatric conditions Hand notes
Non-communicating
Non-communicating hydrocephalus, or
obstructive hydrocephalus, is caused by a
CSF-flow obstruction ultimately preventing
CSF from flowing into the subarachnoid
space (either due to external compression or
intraventricular mass lesions).
Foramen of Monro obstruction may lead
to dilation of one or, if large enough
(e.g., in Colloid cyst), both lateral
ventricles.
The aqueduct of Sylvius, normally
narrow to begin with, may be obstructed
by a number of genetically or acquired
lesions (e.g., atresia, ependymitis,
hemorrhage, tumor) and lead to dilation
of both lateral ventricles as well as the
third ventricle.
Fourth ventricle obstruction will lead to
dilatation of the aqueduct as well as the
lateral and third ventricles (e.g., Chiari
malformation).
The foramina of Luschka and foramen
of Magendie may be obstructed due to
congenital failure of opening (e.g.,
Dandy-Walker malformation).
Congenital
Arnold-Chiari malformation and Dandy-
Walker malformation
The cranial bones fuse by the end of
the third year of life. For head
enlargement to occur, hydrocephalus
must occur before then. The causes
are usually genetic but can also be
acquired and usually occur within
the first few months of life, which
include 1) intraventricular matrix
hemorrhages in premature infants, 2)
infections, 3) type II Arnold-Chiari
malformation, 4) aqueduct atresia
and stenosis, and 5) Dandy-Walker
malformation.
In newborns and toddlers with
hydrocephalus, the head
circumference is enlarged rapidly
and soon surpasses the 97th
percentile. Since the skull bones
have not yet firmly joined together,
bulging, firm anterior and posterior
fontanelles may be present even
when the patient is in an upright
position.
The infant exhibits fretfulness, poor
feeding, and frequent vomiting. As
the hydrocephalus progresses, torpor
sets in, and the infant shows lack of
interest in his surroundings. Later on,
the upper eyelids become retracted
and the eyes are turned downwards
(due to hydrocephalic pressure on
the mesencephalic tegmentum and
paralysis of upward gaze).
Movements become weak and the
arms may become tremulous.
Papilledema is absent but there may
be reduction of vision. The head
becomes so enlarged that the child
may eventually be bedridden.
About 80-90% of fetuses or newborn infants
with spina bifida—often associated with
meningocele or myelomeningocele—
develops hydrocephalus.
Acquired
This condition is acquired as a consequence
of CNS infections, meningitis, brain tumors,
head trauma, intracranial hemorrhage
(subarachnoid or intraparenchymal) and is
usually extremely painful.
Effects
Because hydrocephalus can injure the brain,
thought and behavior may be adversely
affected. Learning disabilities including
short-term memory loss are common among
18 Pediatric conditions Hand notes
those with hydrocephalus, who tend to score
better on verbal IQ than on performance IQ,
which is thought to reflect the distribution of
nerve damage to the brain. However the
severity of hydrocephalus can differ
considerably between individuals and some
are of average or above-average intelligence.
Someone with hydrocephalus may have
motion and visual problems, problems with
coordination, or may be clumsy. They may
reach puberty earlier than the average child
(see precocious puberty). About one in four
develops epilepsy.
Treatment
Hydrocephalus treatment is surgical,
generally creating various types of
cerebral shunts. It involves the
placement of a ventricular catheter (a
tube made of silastic), into the
cerebral ventricles to bypass the flow
obstruction/malfunctioning
arachnoidal granulations and drain
the excess fluid into other body
cavities, from where it can be
resorbed.
Most shunts drain the fluid into the
peritoneal cavity (ventriculo-
peritoneal shunt), but alternative
sites include the right atrium
(ventriculo-atrial shunt), pleural
cavity (ventriculo-pleural shunt), and
gallbladder. A shunt system can also
be placed in the lumbar space of the
spine and have the CSF redirected to
the peritoneal cavity (Lumbar-
peritoneal shunt).
An alternative treatment for
obstructive hydrocephalus in
selected patients is the endoscopic
third ventriculostomy (ETV),
whereby a surgically created opening
in the floor of the third ventricle
allows the CSF to flow directly to
the basal cisterns, thereby
shortcutting any obstruction, as in
aqueductal stenosis. This may or
may not be appropriate based on
individual anatomy.
Shunt complications
Examples of possible complications
include shunt malfunction, shunt
failure, and shunt infection, along
with infection of the shunt tract
following surgery (the most common
reason for shunt failure is infection
of the shunt tract). Although a shunt
generally works well, it may stop
working if it disconnects, becomes
blocked (clogged), infected, or it is
outgrown. If this happens the
cerebrospinal fluid will begin to
accumulate again and a number of
physical symptoms will develop
(headaches, nausea, vomiting,
photophobia/light sensitivity), some
extremely serious, like seizures. The
shunt failure rate is also relatively
high (of the 40,000 surgeries
performed annually to treat
hydrocephalus, only 30% are a
patient's first surgery) and it is not
uncommon for patients to have
multiple shunt revisions within their
lifetime.
The diagnosis of cerebrospinal fluid
buildup is complex and requires
specialist expertise.
Another complication can occur
when CSF drains more rapidly than
it is produced by the choroid plexus,
causing symptoms -listlessness,
severe headaches, irritability, light
sensitivity, auditory hyperesthesia
(sound sensitivity), nausea, vomiting,
dizziness, vertigo, migraines,
seizures, a change in personality,
weakness in the arms or legs,
strabismus, and double vision - to
19 Pediatric conditions Hand notes
appear when the patient is vertical. If
the patient lies down, the symptoms
usually vanish in a short amount of
time. A CT scan may or may not
show any change in ventricle size,
particularly if the patient has a
history of slit-like ventricles.
Difficulty in diagnosing
overdrainage can make treatment of
this complication particularly
frustrating for patients and their
families.
Resistance to traditional analgesic
pharmacological therapy may also be
a sign of shunt overdrainage or
failure. Diagnosis of the particular
complication usually depends on
when the symptoms appear - that is,
whether symptoms occur when the
patient is upright or in a prone
position, with the head at roughly the
same level as the feet.
Orthopedic anomalies:
1. Osteogenesis imperfecta
2. Arthrogryposis multiplex congenital
3. Talipes equinovarus
4. Torticollis: is a condition in which there
is a lateral inclination and a rotation of the
head away from the midline of the body
with limitation of the range of motion of the
neck.
5. Congenital dislocation of the hip: in this
condition the femur head is completely
dislocated from the acetabulum. The infant
shows limited ability to abduct the hip,
asymmetry of the gluteal skin folds and
inguinal creases, and shortening of the
affected leg.
6. Clubfoot: flexion at the ankle with
inversion of the heel and fore foot.
20 Pediatric conditions Hand notes
Osteogenesis imperfecta
Osteogenesis imperfecta (oi and sometimes
known as brittle bone disease, or "lobstein
syndrome" is a genetic bone disorder.
People with oi are born with defective
connective tissue, or without the ability to
make it, usually because of a deficiency of
type-i collagen. This deficiency arises from
an amino acid substitution of glycine to
bulkier amino acids in the collagen triple
helix structure. The larger amino acid side-
chains create steric hindrance that creates a
bulge in the collagen complex, which in turn
influences both the molecular
nanomechanics as well as the interaction
between molecules, which are both
compromised. As a result, the body may
respond by hydrolyzing the improper
collagen structure. If the body does not
destroy the improper collagen, the
relationship between the collagen fibrils and
hydroxyapatite crystals to form bone is
altered, causing brittleness. Another
suggested disease mechanism is that the
stress state within collagen fibrils is altered
at the locations of mutations, where locally
larger shear forces lead to rapid failure of
fibrils even at moderate loads as the
homogeneous stress state found in healthy
collagen fibrils is lost. These recent works
suggest that oi must be understood as a
multi-scale phenomenon, which involves
mechanisms at the genetic, nano-, micro-
and macro-level of tissues.
Types
There are eight different types of oi, type i
being the most common, though the
symptoms vary from person to person
Type Description
I Mild
Ii Severe and usually lethal in the
perinatal period
Iii Considered progressive and deforming
Iv Deforming, but with normal sclera‘s
V
Shares the same clinical features of iv,
but has unique histologic findings
("mesh-like")
Vi
Shares the same clinical features of iv,
but has unique histologic findings
("fish scale")
Vii Autosomal recessive, associated with
cartilage associated protein
Viii Severe to lethal, autosomal recessive,
associated with the protein leprecan
Type i
Blue sclera in osteogenesis imperfecta.
Collagen is of normal quality but is
produced in insufficient quantities:
Bones fracture easily
21 Pediatric conditions Hand notes
Slight spinal curvature
Loose joints
Poor muscle tone
Discoloration of the sclera (whites of
the eyes), usually giving them a
blue-gray color. The blue-gray color
of the sclera is due to the underlying
choroidal veins which show through.
This is due to the sclera being
thinner than normal because of the
defective type i collagen not forming
correctly.
Early loss of hearing in some
children
Slight protrusion of the eyes
Ia and ib are defined to be distinguished by
the absence/presence of dentinogenesis
imperfecta (characterized by opalescent
teeth; absent in ia, present in ib). Life
expectancy is slightly reduced compared to
the general population due to the possibility
of fatal bone fractures and complications
related to oi type i such as basilar
invagination.
Type ii
Collagen is not of a sufficient quality or
quantity
Most cases die within the first year
of life due to respiratory failure or
intracerebral hemorrhage
Severe respiratory problems due to
underdeveloped lungs
Severe bone deformity and small
stature
Type ii can be further subclassified into
groups a, b, c, which are distinguished by
radiographic evaluation of the long bones
and ribs. Type iia demonstrates broad and
short long bones with broad and beaded ribs.
Type iib demonstrates broad and short long
bones with thin ribs that have little or no
beading. Type iic demonstrates thin and
longer long bones with thin and beaded ribs.
Type iii
Collagen improperly formed. Enough
collagen is made but it is defective
Bones fracture easily, sometimes
even before birth
Bone deformity, often severe
Respiratory problems possible
Short stature, spinal curvature and
sometimes barrel-shaped rib cage
Triangular face
Loose joints
Poor muscle tone in arms and legs
Discolouration of the sclera (the
'whites' of the eyes), often turning
blue during severe -break.
Early loss of hearing possible
Type iii is distinguished among the other
classifications as being the "progressive
deforming" type, wherein a neonate presents
with mild symptoms at birth and develops
the aforementioned symptoms throughout
life. Lifespan may be normal, albeit with
severe physical handicapping.
Type iv
Collagen quantity is sufficient but is not of a
high enough quality
Bones fracture easily, especially
before puberty
Short stature, spinal curvature and
barrel-shaped rib cage
Bone deformity is mild to moderate
Early loss of hearing
Similar to type i, type iv can be further
subclassified into types iva and ivb
characterized by absence (iva) or presence
(ivb) of dentinogenesis imperfecta.
22 Pediatric conditions Hand notes
Type v
Oi type
v in an adult
Oi type v in a child
Same clinical features as type iv.
Distinguished histologically by "mesh-like"
bone appearance. Further characterized by
the "v triad" consisting of a) radio-opaque
band adjacent to growth plates, b)
hypertrophic calluses at fracture sites, and c)
calcification of the radio-ulnar interosseous
membrane.
Oi type v leads to calcification of the
membrane between the two forearm bones,
making it difficult to turn the wrist. Another
symptom is abnormally large amounts of
repair tissue (hyperplasic callus) at the site
of fractures. At the present time, the cause
for type v is unknown, though doctors have
determined that it is inherited.
Type vi
Same clinical features as type iv.
Distinguished histologically by "fish-scale"
bone appearance.
Type vii
In 2005 a recessive form called "type
vii" was discovered (phenotype
severe to lethal).
Mutations in the gene crtap causes
this type.
Type viii
Oi caused by mutation in the gene lepre1 is
classified as type viii.
Treatment
At present there is no cure for oi. Treatment
is aimed at increasing overall bone strength
to prevent fracture and maintain mobility.
There have been many clinical trials
performed with fosamax (alendronate), a
drug used to treat those experiencing
brittleness of bones due to osteoporosis.
Higher levels of effectiveness apparently are
to be seen in the pill form versus the iv
form, but results seem inconclusive. The u.s.
Food and drug administration (fda) will not
approve fosamax as a treatment for oi
because long term effects of the drug have
not been fully researched yet, although it is
often used in preteens, instead of
pamidronate.
Bone infections are treated as and when they
occur with the appropriate antibiotics and
antiseptics.
23 Pediatric conditions Hand notes
Physiotherapy
Physiotherapy used to strengthen muscles
and improve motility in a gentle manner,
while minimizing the risk of fracture. This
often involves hydrotherapy and the use of
support cushions to improve posture.
Individuals are encouraged to change
positions regularly throughout the day in
order to balance the muscles which are
being used and the bones which are under
pressure.
Children often develop a fear of trying new
ways of moving due to movement being
associated with pain. This can make
physiotherapy difficult to administer to
young children.
Physical aids
With adaptive equipment such as crutches,
wheelchairs, splints, grabbing arms, and/or
modifications to the home many individuals
with oi can obtain a significant degree of
autonomy.
Bisphosphonates
Bisphosphonates (bps), particularly those
containing nitrogen, are being increasingly
administered to increase bone mass and
reduce the incidence of fracture. Bps can be
dosed orally (e.g. Alendronate) or by
intravenous injection/infusion (e.g.
Pamidronate, zoledronic acid).
Bp therapy is being used increasingly for the
treatment of oi. It has proven efficiency in
reducing fracture rates in children, however
only a trend towards decreased fracture was
seen in a small randomized study in adults.
While decreasing fracture rates, there is
some concern that prolonged bp treatment
may delay the healing of oi fractures,
although this has not been conclusively
demonstrated.
Pamidronate is used in usa, uk and canada.
Some hospitals, such as most shriners,
provide it to children. Some children are
under a study of pamidronate. Marketed
under the brand name aredia, pamidronate
is usually administered as an intravenous
infusion, lasting about three hours. The
therapy is repeated every three to six
months, and lasts for the life of the patient.
Common side effects include bone pain, low
calcium levels, nausea, and dizziness.
According to recent results, extended
periods of pamidrinate, (i.e.;6 years) can
actually weaken bones, so patients are
recommended to get bone densities every 6
months-1 year, to monitor bone strength.
Surgery
Metal rods can be surgically inserted in the
long bones to improve strength, a procedure
developed by harold a. Sofield, md, at
shriners hospitals for children in chicago.
During the late 1940s, sofield, chief of staff
at shriners hospitals in chicago, worked
there with large numbers of children with oi
and experimented with various methods to
strengthen the bones in these children. In
1959, with edward a. Miller, md, sofield
wrote a seminal article describing a solution
that seemed radical at the time: the
placement of stainless steel rods into the
intramedullary canals of the long bones to
stabilize and strengthen them. His treatment
proved extremely useful in the rehabilitation
and prevention of fractures; it was adopted
throughout the world and still forms the
basis for orthopedic treatment of oi.
Spinal fusion can be performed to correct
scoliosis, although the inherent bone
fragility makes this operation more complex
in oi patients. Surgery for basilar
24 Pediatric conditions Hand notes
impressions can be carried out if pressure
being exerted on the spinal cord and brain
stem is causing neurological problems.
Arthrogryposis multiplex
congenital
Definition: Arthrogryposis multiplex
congenital is disorders characterized by
multiple joint contractures through the body
present at birth.
Types
Arthrogryposis includes more than two-
hundred variations of contractures that are
present. Generally the conditions of
arthrogryposis can be divided into three
groups.
Disorders involving mainly the
person's limbs
Disorders including limb
involvement and the person's central
nervous system.
Example :
1) disorders with mainly limb involvement:
Amyoplasia.
- sporadic condition.
- distinct appearance of limbs and joints
- normal iq.
Other distal arthrogryposes. There
are 7 subtypes, classified as type i,
type ii and types iia to iie.
2) disorders with involvement of limbs and
other body parts:
- multiple pterygium syndrome (pterygium
25 Pediatric conditions Hand notes
meaning 'wing' and referring to triangular
membranes affecting the neck, knees,
elbows, ankles, etc.):
- autosomal recessive: multiple joint
contractures with marked pterygia
(dysmorphic facies and cervical vertebral
anomalies).
- autosomal dominant: multiple pterygia
(with or without mental retardation).
Other syndromes:
Freeman-sheldon syndrome.
Condition that primarily affects the face,
hands, and feet. People with this disorder
have a distinctive facial appearance.
Osteochondrodysplasias.
A group of hereditary disorders in which
bone or cartilage grows abnormally,and
skeleton develops abnormally.
Chromosomal disorders.
- cerebro-oculo-facial skeletal syndrome is a
genetic, degenerative disorder that involves
the brain and the spinal cord.
Causes
Children with arthrogryposis experience :
Neurologic deficits
- loss of neurons and multiple congenital
joint contractures of a person's body at the
time of their birth.
Connective tissue and skeletal
defects
- Fails to nourish the child's nerves that lead
to bones or muscles that make up their joints
to move with full range.
- Decreased space in the womb for the fetus
to move around, maternal fever, viral
infections, and environmental factors may
lead to arthrogryposis .
Maternal neuromuscular diseases
- myotonic dystrophy
-inherited disorder, muscles contract
but have decreasing power to relax.
- myasthenia gravis.
-chronic autoimmune neuromuscular
disease characterized by varying
degrees of weakness of the skeletal
(voluntary) muscles of the body.
Clinical presentation
1) Early sign of arthrogryposis :
Specific positioning present at birth
- internal rotation at the shoulders,
extension at the elbows, and flexion at the
wrists.
- severe equinovarus deformity of
the feet is frequently present
2) Child with arthrogryposis have:
Flexed joint
Limited joint motion
Muscle paralysis
Reduced facial gesticulation
Bone and joint deformity
26 Pediatric conditions Hand notes
Joint enlargement
Thickened skin over joints
Cylindrical elbows
Premature synostosis
Palate defect
Spinal cord motor neuron
degeneration
Muscle weakness
Multiple joint contractures
Therefore, arthrogryposis child have
difficulty in moving from one place to
another.
Investigation
In order to distinguish between the different
types of arthrogryposis, doctors can use:
1) X-rays
- detecting abnormalities in at child's
pelvis, limbs, and spine
2) Magnetic resonance imaging (MRI) scan
- to determine the extent of central
nervous system involvement in AMC
3 ) Computed tomography (CT) scan
- detecting the neurogenic and
myopathic forms
4) Ultrasound
- can detect the changes in soft tissue
structure and bone fusions at the joints
before birth.
5) genetic testing
- methods and procedures to determine the
presence of a genetic disorder.
Medical management
1 ) surgery
Can relieve the abnormal tension
shortened connective tissue and
muscle structures place on the joints.
Restructure bone tissue
2) Physical therapy
Helps strengthen the tissues and
extend range of motion.
Reference:
Http://www.disabled-
world.com/health/orthopedics
/arthrogryposis.php
Http://www.kyaskrusade.org/
wp-
content/uploads/2008/02/kyas
%20krusade%20arthrogrypos
is%20education%20page.pdf
27 Pediatric conditions Hand notes
Talipes equinovarus
Definition: Talipes equinovarus or
congenital clubfoot is a common
abnormality of foot developmental
deformity of the foot in which one or both
feet are excessively plantar flexed and
discovered at the time of birth.
Types
There are various types of talipes
equinovarus but three common types of
talipes equinovarus are talipes equinovalgus,
talipes calcaneovarus and talipes
calcaneovalgus.
Talipes equinovalgus is a deformity
that is a combination of talipes
equinus and talipes valgusmarked
by a plantar-flexed, everted, and
abducted foot
Talipes calcaneovarus is a talipes
calcaneus and talipes varus
combined; the foot is dorsiflexed,
inverted, and adducted
Talipes calcaneovalgus is a talipes
calcaneus and talipes valgus
combined; the foot is dorsiflexed,
everted, and abducted
Causes
There are three main causes that may
lead to talipes equinovarus :
Congenital
- genetic that are inherited from parents.
Position of baby
- position of baby in the womb; too little
fluid surrounding the baby, a condition
known as oligohydramnios.
Neuromuscular disorder.
- Abnormalities of the nervous system or
muscles
- Part of a syndrome of birth defects.
Clinical presentation
The foot is turned inward from the
normal position
The heel is higher than the ball of
the foot.
They also have stiff foot where the
joints can‘t be moved normally.
Their calf muscles also smaller than
normal.
Complication in mobility
Investigation
Talipes equinovarus is usually diagnosed
after a baby is born. However, as the
technology of :
1) Ultrasound scanning
- during pregnancy improves,
increasingly, talipes equinovarus is
being detected during scanning before
a baby is born.
2) Examined and checked initial
appearance of the child feet.
- the doctor examinate the child`s feet
by looking at initial mobility of the feet
and manipulation.
- initial mobility of baby`s feet by
varying degrees of deformity
- doctor will investigate the joints that
were rigid and more mobile.
28 Pediatric conditions Hand notes
3) x-rays
- detecting abnormalities in at child`s
feet
Medical management
1) Gentle manipulation means
- gently holding and stretching the
foot into a more natural position.
- added use of strapping, splints,
plaster casts or special boots, all of
which help maintain the position of
the foot.
2) Surgery also can help cure talipes
equinovarus
- if foot position isn‘t achieved by
the time your baby is about 3 months old.
- often carried out on the tendons and
muscles of the foot to correct their
length and loose them.
References :
Http://www.patient.co.uk/hea
lth/talipes-equinovarus-
%28club-foot%29.htm
Http://www.impcna.com/intr
anet/nelson%20pediatric/new
born/clubfoot%5b1%5d.pdf
Http://www.babyworld.co.uk/
information/baby/health/talip
es.asp
29 Pediatric conditions Hand notes
Congenital Hip Dislocation
Definition
The pelvis and femur are the two main
bones that form the hip joint. Articulation of
the head of the femur and the acetabulum of
the pelvis make the hip joint an enarthrodial
joint.
Some children are born with a hip problem
called congenital hip dislocation (dysplasia).
The condition is usually diagnosed as soon
as a baby is born. Mostly, it affects the left
hip in first-born children, girls, and babies
born in the breech position.
In hip dislocation, the ball at the top of the
thighbone (femoral head) does not sit
securely in the socket (acetabulum) of the
hip joint. Surrounding ligaments may also
be loose and stretched. The ball may be
loose in the socket or completely outside of
it.
Causes
Female newborn
Breech birth
Family history of congenital hip
dislocation
Symptoms
A ―clicking‖ sound when the
newborn‘s legs are pushed apart
Affected leg will look shorter than
the other one
Skin folds in the thighs will appear
uneven
Less flexibility on the leg
Limping when walking
Diagnosis
A very careful physical examination of a
newborn usually distinguishes hip
dislocation. In older infants and children, hip
x-rays can confirm the diagnosis.
Ortolani maneuver: the examiner puts the
newborn baby in a position of contralateral
hip is held still while the thigh of the hip
being tested is abducted and gently pulled
anteriorly. The acetabulum is not fully
developed if the examiner hears the ‗clunk‘
sound.
Barlow maneuver: it is done by adducting
the hip while pushing the thigh posteriorly.
If the hip goes out of the socket it means it is
dislocated and the newborn has a congenital
hip dislocation. They examine the baby by
laying the baby on its back and separating
their two legs apart if a clicking sound can
30 Pediatric conditions Hand notes
be heard then that means that the baby may
have this condition.
Tonic labyrinthine reflex (tlr): reflex
presents in a newborn babies. It is suggested
that in order to do this reflex exercise the
head is tilting back which causes the baby‘s
back to become stiffened, the legs are
straightened and pushed together with the
toes to point, and the arms bent at the
elbows and wrists. Also the hands will be
put into a fist are curled.
Treatment
Treatment of dislocation depends on the age
of the child. In a newborn ,a device called a
pavlik harness will ensure the hip bone in
the socket and stimulate normal hip
development. If that method doesn‘t work,
the hip bone can often be pushed back into
place in children aged 6 months to 2 years.
Called closed reduction under anesthesia, if
fails, open surgery to reposition the hip may
be necessary.
31 Pediatric conditions Hand notes
Torticollis
Introduction
Torticollis is caused by the shortening of
muscles in the neck, particularly the
sternocleidomastoid (scm) muscle. This can
occur from placement in utero, the birth
process or being constantly in the same
position in car seats, swings, etc. And not
having the opportunity to turn their neck to
both sides. Often, torticollis causes
plagiocephaly since the child is favoring one
side of the neck and pressure is always on
the same side of the head. They are many
type of symptom that can be cause for this
disease. The causes is base on the type of
this disease, for example head pain, neck
injury, and osteoarthritis
Definition
Torticollis, or wryneck, is a stiff neck
associated with muscle spasm, classically
causing lateral flexion contracture of the
cervical spine musculature (a condition in
which the head is tilted to one side). The
muscles affected are principally those
supplied by the spinal accessory nerve.
Types
1. Congenital muscle torticollis
2. Acquired torticollis
Congenital muscular torticollis
The etiology of congenital muscular
torticollis is unclear. Birth trauma or
intrauterine malposition is also
considered to cause damage to the
sternocleidomastoid muscle in the
neck. This results in a shortening or
excessive contraction of the
sternocleidomastoid muscle, often
with limited range of motion in both
rotation and lateral bending. The
head is typically tilted in lateral
bending toward the affected muscle
and rotated toward the opposite side.
The condition may be caused by
scars, disease of cervical vertebrae,
adenitis, tonsillitis, rheumatism,
enlarged cervical glands,
retropharyngeal abscess, or
cerebellar tumors. It may be
spasmodic (clonic) or permanent
(tonic). The latter type may be due to
pott's disease (tuberculosis of the
spine).
The reported incidence of congenital
torticollis is 0.3-2.0 %. Sometimes a
mass (a sternocleidomastoid tumor)
in the affected muscle may be noted,
this appears at the age of two to four
weeks, it disappears gradually, but
sometimes the muscle becomes
fibrotic. It is likely to disappear
within the first five to eight months
of life.
The condition is treated initially with
physical therapy, with stretching to
correct the tightness, strengthening
exercises to achieve muscular
balance, handling to stimulate
symmetry. A tot collar is sometimes
used. About 5–10% require "surgical
release" of the muscle if stretching
fails.
Infants with torticollis have a higher
risk for plagiocephaly. Altering the
head position and using a pillow
when supine helps as does giving a
lot of tummy time when awake.
Other less common causes such as
tumors, infections, ophthalmologic
problems and other abnormalities
should be ruled out. For example,
ocular torticollis due to cranial nerve
32 Pediatric conditions Hand notes
iv palsy should not be treated with
physical therapy. In this situation,
the torticollis is a neurological
adaptation designed to maintain
binocularity. Treatment should be
targeted at the extraocular muscle
imbalance.
In general, if torticollis is not
corrected facial asymmetry can
develop. Head position should be
corrected before adulthood (to about
the age of 18 there can be
improvement). Younger children
show the best results.
Congenital torticollis develops in the
infant but can be diagnosed at older
ages, even in adults who were
missed as infants/children.
The word torticollis means wry neck:
acquired torticollis is not the same as
congenital torticollis. All ages can
suffer from acquired torticollis.
Common treatment might involve a multi-
phase process:
1. Low-impact exercise to increase
strong form neck stability
2. Manipulation of the neck by a
chiropractor, physical therapist, or
d.o.†
3. Extended heat application.
4. Repetitive shiatsu massage.
An osteopathic physician (d.o.) May choose
to use cranial techniques to properly position
the occipital condyles - thereby relieving
compression of cranial nerve xi in children
with torticollis. This is an example of
osteopathic manipulative treatment.
Acquired torticollis
Acquired torticollis occurs because of
another problem and usually presents in
previously normal children and adults.
A self-limiting spontaneously occurring
form of torticollis with one or more
painful neck muscles is by far the most
common ('stiff neck') and will pass
spontaneously in 1–4 weeks. Usually the
sternocleidomastoid muscle or the
trapezius muscle is involved. Sometimes
draughts, colds or unusual postures are
implicated; however in many cases no
clear cause is found. These episodes are
rarely seen by doctors other than a
family physician.
Trauma to the neck can cause
atlantoaxial rotatory subluxation, in
which the two vertebrae closest to the
skull slide with respect to each other,
tearing stabilizing ligaments; this
condition is treated with traction to
reduce the subluxation, followed by
bracing or casting until the ligamentous
injury heals.
Tumors of the skull base (posterior fossa
tumors) can compress the nerve supply
to the neck and cause torticollis, and
these problems must be treated
surgically.
Infections in the posterior pharynx can
irritate the nerves supplying the neck
muscles and cause torticollis, and these
infections may be treated with
antibiotics if they are not too severe, but
could require surgical debridement in
intractable cases.
Ear infections and surgical removal of
the adenoids can cause an entity known
as grisel's syndrome, a subluxation of
the upper cervical joints, mostly the
atlantoaxial joint, due to inflammatory
laxity of the ligaments caused by an
infection. This bridge must either be
broken through manipulation of the
neck, or surgically resected.
The use of certain drugs, such as
antipsychotics, can cause torticollis.
Antiemetics - neuroleptic class -
phenothiazines
33 Pediatric conditions Hand notes
There are many other rare causes of
torticollis.
Spasmodic torticollis
Torticollis with recurrent but transient
contraction of the muscles of the neck and
esp. Of the sternocleidomastoid.
"intermittent torticollis . "cervical dystonia"
Treatment: botulinum toxin has been used to
inhibit the spastic contractions of the
affected muscles
Clinical presentation
Neck pain
Neck stiffness
Neck
tenderness(decreased
range of motion of the
neck)
Severs spasm of the
neck muscle(head is
tilted to one side)
Mild headache
Investigation
Evaluation of a child with torticollis
begins with history taking to
determine circumstances surrounding
birth and any possibility of trauma or
associated symptoms.
Physical examination reveals
decreased rotation and bending to the
side opposite from the affected
muscle. Some say that congenital
cases more often involve the right
side, but there is not complete
agreement about this in published
studies.
Evaluation should include a thorough
neurologic examination, and the
possibility of associated conditions
such as developmental dysplasia of
the hip and clubfoot should be
examined.
Radiographs of the cervical spine
should be obtained to rule out
obvious bony abnormality, and mri
should be considered if there is
concern about structural problems or
other conditions.
Evaluation by an ophthalmologist
should be considered in children to
ensure that the torticollis is not
caused by vision problems (iv cranial
nerve palsy, nystagmus-associated
"null position," etc.). Most cases in
infants respond well to physical
therapy. Other causes should be
treated as noted above.
Medical management
Treatments for congenital torticollis
involve stretching at shortened neck
muscle. The stretching that been
done to this case must be in passive
stretching. This type of treatment is
used to infants and small children.
This treatment oftenly successful
especially when it starts within 3
month of birth.
Surgery treatment may be needed to
correct the neck muscle, for the
preschool year (4-6 years old), if
other treatment like passive
stretching and drugs failed.
Acquired torticollis is treated by
identifying the causes of disorder,
application of heat, traction to
cervical spine and massage may help
to release neck and head pain.
Stretching exercises may help with
muscle spasm.
34 Pediatric conditions Hand notes
Drugs or potion that often used to
treat this condition include an
anticholierngic drug called baclofen.
Injection of botilium toxin can
temporarily relive the torticollis, but
repeat injection usually needed for
every 3 months. Surgery are rarely
needed for this disease
Conclusion
As a conclusion, we know
that tortticollis is a disease that can get from
birth or when we get head trauma or a pain
that can damage sternoclaidomastoid
muscle. Eventough there are many
treatments that we can get for this disease.
We still need to take a precaution and care
for our neck , because an injured around the
neck is really pain to be cure specially to
do stretching treatment and it must done for
many time until our sternocleidomastoid
muscle can relax like usual .
References:
1. Cheng jcy, wong mwn, tang sp, chen
tmk, mphil, shum slf, wong emc.
Clinical determinants of the outcome
of manual stretching in the treatment
of congenital muscular torticollis in
infants. Bone joint surg.
2001;83:679-687.
2. Tang sf, hsu kh, wong am hsu cc,
chang ch. Logitudinal followup
study of ultrasonography in
congenital muscular torticollis. Clin
orthop. 2002;403:179-185.
3. Hsu tc, wang cl, wong mk, hsu kh,
tang ft, chen ht. Correlation of
clinical and ultrasonographic
features in congenital muscular
torticollis. Arch phys med rehabil.
1999;80:637-641.
4. Yu c-c, wong f-w, lo l-j, et al.
Craniofacial deformity in patients
with uncorrected congenital
muscular torticollis: an assessment
from three-dimensional computed
tomography imaging. Plast reconstr
surg. 2004;113:24–33.
35 Pediatric conditions Hand notes
SEQUELAE OF
PREMATURITY
Hypotonia
Introduction
Hypotonia in general is a disorder in
itself but it is also looked at as condition
which is sign of various disorders and
indicates onset of problem related to muscle
tone or motor nerve that controls movements
and functionally of muscle.
Diagnosis of hypotonia its early
stage may help in treating the patient.
To detect hypotonia from early stage
is simple but to diagnosing the underlying
cause is difficult and unsuccessful.
Hypotonia is also one of the sequelae of
prematurity.
Definition
Hypotonia is the state of low muscle
tone (the amount of tension or resistance to
movement in a muscle), often involving
reduced muscle strength
Muscle tone indicates the ability of a muscle
to respond to a stretch increased or
decreased.
1. Explanation
- The low muscle tone can be
caused by a variety of conditions
such as underlying central
nervous system disorder, genetic
disorder, or muscle disorder.
- A lack of muscle tone and lack of
muscle strength are not the same
thing because a muscle can be
strong as a bodybuilders and still
have low tone.
- A child with low muscle tone has
muscles that are slow to start a
muscle contraction.
- Muscles contract very slowly in
response to a stimulus and cannot
maintain a contraction for as long
as a normal muscle. Because
low-toned muscles do not fully
contract before they again relax,
they remain loose and very
stretchy, never achieving their
full potential of sustaining a
muscle contraction over time.
2. Others name for hypotonia
- Hypotonia also known as ‘floppy
infant syndrome’ that is used to
described as feeling and
appearing as though they are ‗rag
dolls‘ a ‗ sack of jello‘ or a ‗
pillow full of pudding‘ easily
slipping through one‘s hand.
- Benign congenital hypotonia
- Congenital hypotonia
- Congenital muscle hypotonia
- Congenital muscle weakness
- Amyotonia congenital
- Infantile hypotonia
36 Pediatric conditions Hand notes
Etiology (causes)
Some causes of hypotonia are often
uknown origin. Scientist believes that they
may be caused by:
Trauma
Environmental factors
Genetic
Muscles
Central nervous system
‗The national institutes of health‘ list that
some condition known to cause hypotonia
includes:
Down syndrome(trisomy 21)
- A chromosome abnormality,
usually due to an extra copy of
the twenty-first chromosome.
Congenital cerebral ataxia
- A movement disorder which with
its sudden onset, often following
an infectious viral disease, causes
hypotonia.
Familial dysautonomia (riley-day
syndrome)
- An inherited disorder that affects
the function of nerves throughout
the body.
Prader-willi sydrome
- A congenital disease
characterized by obesity, severe
hypotonia, and decreased mental
capacity.
Kernicterus (rh incompatibility)
- A condition that develops when
there is a difference in rh blood
type between that of the mother
(rh negative) and that of the fetus
(rh positive).
Infant botulism
- A type of botulism, in which
clostridium botulinum bacteria
grow within an infant's digestive
tract, producing a toxin which is
potentially life-threatening.
Congenital hypothroidism
37 Pediatric conditions Hand notes
- A disorder that results from
decreased thyroid hormone
production.
Muscular dystrophy
- A group of disorders
characterized by progressive
muscle weakness and loss of
muscle tissue.
Myasthenia gravis
- A neuromuscular disorder
characterized by variable
weakness of voluntary muscles,
which often improves with rest
and worsens with activity. The
condition is caused by an
abnormal immune response.
Trisomy 13
- A syndrome associated with the
presence of a third number 13
chromosome.
Clinical presentation (sign & symptoms)
1. Children with hypotonia may
exhibit poor head control and
possibly fail to meet other
development milestone such as
sitting or crawling.
2. Decreased muscle tone which
muscles feel soft and doughy
(floppy muscle tone) and lack of
gross motor.
3. A child may difficulties with
sucking, swallowing and oral motor
functions (dysphagia).
4. Failure to acquire motor skill
developmental milestones (such as
holding head up without support
from parent, rolling over, sitting up
without support, walking)
5. Depending on the nature, severity
and location of the cerebral damage,
hypotonia can affect the entire body
or be limited to parts of the body.
6. Children with this disorder may not
exhibit developmental disabilities or
mental retardation.
7. A child with brain injury resulting
in hypotonia may or may not
experience a seizure disorder or
movement disorder.
Investigation
1. Molecular genetic studies for
characteristic condition
- Prader-willi syndrome is a
complex genetic condition that
affects many parts of the body
and in infancy, this condition
characterized by weak muscles
tone(hypotonia)
2. Creatine phosphokinase(cpk)
- To diagnose dermatomyositis or
viral myositis.
3. X ray of the knee to look for patella
calcification or stippling in
peroxysomal disorder.
4. Appropriate biochemistry for
metabolic reaction.
5. Electromyography(emg) and nerve
conduction studies. Single fibre or
repetitive stimulation for myasthenia.
- Neurogenic pattern with reduced
maximal effort, increased
duration and amplitude of motor
unit potentials and increased
38 Pediatric conditions Hand notes
numbers of polyphasic potential.
Dna testing.
6. Neuroimaging of brain
- To exclude structural brain
abnormality, either isolated or in
association with muscle disease.
7. Muscle biopsy
- May be justified in the neonate
if diagnosis cannot be secured by
alternative method.
8. Serial ultrasound and doppler
examination
- To detect signs of fetal anemia
such as increased blood flow
velocities and monitor hydrops
fetalis.
9. Quantitative analysis of maternal
anti-rhd antibodies
- An increasing level is a sign of
fetal rh disease
10. Intrauterine blood transfusion
- Intraperitoneal transfusion(blood
transfused into fetal abdomen)
- Intravascular transfusion(blood
transfused into fetal umbilical
vein)
11. Early delivery
- Usually after about 36 weeks
gestation.
Medical management
Medical management is very
important to the hypotonia infant. Most of
the cause of hypotonia currently have known
cure, but we can learn how to cope with and
overcome hypotonia symptoms.
Drugs
Cardiomyopathy frequently
coexists with neuromuscular
conditions causing hypotonia
Duchenne muscular dystrophy
Oral prednisone is used to increase
and sustain muscle strength
Infantile botulism
Supportive therapy for respiratory
insuffiency or bulbar dysfunction
–botulinum immune globulin is
beneficial if given within the first 3
days of illness
Synthoid for hypothyroidism
Folic acid supplementation
Iodine supplementation eliminates
mental retardation and bone
deformities.
Isolation measures to try and
prevent opportunistic infection such
as tuberculosis or pneumonia.
Suggestions
Don‘t take any drugs or poison
during pregnancy and all stage of
pregnancy, it may cause the baby
expose to any disorder.
Good prenatal care
Rehabilitation
Children with hypotonia can benefits
greatly from consistent, physical,
occupational and speech therapy
39 Pediatric conditions Hand notes
- To strengthen diminished or
hypotonic muscle group and in
some cases prevent muscular
atrophy and contractures of the
affected joint.
Diagnosis
Diagnosing a patient includes
obtaining family medical history and
a physical examination.
May include such additional tests as:
- Computerized tomography (ct)
scans
- Magnetic resonance imaging
(mri) scans
- Electroencephalogram (eeg)
- Blood tests
- Genetic testing (chromosome
karyotyping)
- Spinal taps
- Electrotromyography muscle
tests.
References
Jane case smith (5th
edition)
occupational therapy for children
Pedretti (5th
edition) occupational
therapy for physical dysfuntion
Stephan stobel, stephen d. Marks,
peter k. Smith, magdi h. El habbal,
lewis spitz (2007) paediatrics and
child health.
Encyclopedia of children‘s health
from
http://www.healthofchildren.com/g-
h/hypotonia.html.
Hypotonia(floppy syndrome) from
wikipedia the free encyclopedia.
Hypotonia - baby, symptoms,
definition, description,
demographics, causes and
symptoms, diagnosis from
http://www.healthofchildren.com/g-
h/hypotonia.
40 Pediatric conditions Hand notes
Neurodevelopmental
disorders
Definition
A neurodevelopmental disorder is an
impairment of the growth and development
of the brain at central nervous system. This
neurodevelopmental disorder cans effects
emotion, learning ability and memory.
Types of neurodevelopmental disorder
1. Cerebral palsy
2. Developmental delay
Cerebral Palsy
Definition: Cerebral palsy (CP) is a brain
paralysis. Cerebral palsy is a static brain
injury that is non- progressive disorder of
posture and movement.
Classification
Classification based on type of movement
disorder
Spastic type - there may be
intermittent increased tone and
pathological reflexes.
Athetoid - this is characterised by
increased activity (hyperkinesia).
This has been described as 'stormy
movement'.
Ataxic type - there may be loss of
orderly muscular co-ordination so
that movements are performed
with abnormal force, rhythm or
accuracy.
Mixed - there may be a combination
of several forms.
Classification based on distribution of
motor involvement
Motor deficits include:
Monoplegia
Diplegia
Hemiplegia
Triplegia
Quadriplegia
Double hemiplegia
The severity of gross motor impairment is
quantified using the Gross Motor Function
Classification System. This facilitates initial
assessment and monitoring response to
therapy.4,5
41 Pediatric conditions Hand notes
Classification based on a etiology
Classification can be according the timing of
the insult as prenatal (the most common),
natal, or postnatal.
Alternatively, it may depend on the actual
cause, such as congenital (developmental,
malformations, syndromic) or acquired
(traumatic, infectious, hypoxic, ischaemic,
TORCH (= toxoplasmosis, other, rubella,
cytomegalovirus, herpes simplex) infections,
and others).
Causes
Cerebral palsy may occur in prenatal, natal
and post natal. Child with cerebral palsy
experience:
Brain damage
failure of the brain to develop
properly (developmental brain
malformation) and neurological
damage to the child's developing
brain.
Athetoid ; basal ganglia -
responsible for processing the signals
that enable smooth, coordinated
movements and maintaining body
posture.
Ataxia; cerebellum - effect sense of
balance and depth perception.
Rigid spastic; premotor cortex at
cerebrum - uses information from
other cortical regions to select
movements appropriate to the
context of the action.
Atonic
◦ generalized atonic seizures :
entire brain
◦ partial atonic seizures : abnormal
activity in the frontal lobe or the
parietal lobe.
Mixed; both the pyramidal and
extrapyramidal areas of the brain.
Clinical Presentation
1 ) Early signs children with cerebral palsy :
Delayed milestones such as
◦ controlling head,
◦ rolling over,
◦ reaching with one
hand,
◦ sitting without
support,
◦ crawling,
◦ walking
Developing handedness before age
18 months.
2) Sign of children with cerebral palsy:
Abnormal muscle tone
Muscles may be very stiff (spastic)
or unusually relaxed and in awkward
positions
Abnormal movements
jerky movement and slow in writhing.
Skeletal deformities
People who have cerebral palsy on only one
side may have shortened limbs on the
affected side.
Joint contractures
severe stiffening of the joint
Mental retardation
Seizures
Speech problems
42 Pediatric conditions Hand notes
They are unable to control these muscles
and thus cannot speak normally.
Swallowing problems unable to
control these muscles will have
problems sucking, eating, drinking,
and controlling their saliva.
Therefore, they may drool.
Hearing loss
Vision problems weakness of the
muscles that control eye movement.
These people are often nearsighted.
Dental problems they have more
cavities than usual and difficulties
brushing the teeth.
Bladder control problems
These are caused by lack of muscle control.
Investigation
Cerebral palsy is usually diagnosed
when a child is very young. Sometimes a
doctor suspects an infant has CP if the baby
was premature and had complications
shortly before or after birth, such as bleeding
inside the brain or lung problems.
Doctors may also consider CP a possibility
if a baby doesn't sit up or begin to walk by a
certain age.
1 ) Doctors check suspected CP
child with a blood test.
Blood test
- Hormonal investigation
2) Doctor also tests the brain of CP
child by scan the brain, such as a CT
scan or MRI, may be used to detect a
damaged area of the brain.
Computed
tomography (CT) scan
This technique creates
images that show the
structure of the brain
and the areas of
damage.
Magnetic resonance
imaging (MRI) scan
Create an anatomical
picture of the brain's
tissues and structures.
Doctors prefer MRI
imaging because it
offers finer levels of
detail.
Cranial ultrasound.
To scan the type of
brain tissue that is damaged.
3) Doctor may order an
electroencephalogram (EEG) for
kids with seizures. An EEG uses
special patches called electrodes
placed on the scalp to record the
natural electrical currents inside the
brain. This recording can help the
doctor see telltale patterns in the
brain‘s electrical activity that
suggests a seizure disorder.
4) To diagnose CP, a doctor must do a
complete examination, paying close
attention to muscle tone and
strength, reflexes, and coordination.
43 Pediatric conditions Hand notes
Medical Management
1 ) Medication
Types of medication given to Cerebral Palsy
patient :
Baclofen
- It is a muscle relaxant
- It is given by mouth/ injected
directly into the spinal cord
(intrathecal injection).
- It help improve movement, speech,
swallowing and alertness.
Dantrolene
muscle relaxant
given in oral form.
relieve severe muscle spasms and
bring pain relief and increased
movement.
Sede- effect :cause serious liver
damage and disease, including
hepatitis and jaundice.
Botox / Botulinum toxin
- for muscles to relax.
- inject botox directly into the
spastic muscle.
-Dosage is based on body weight
- help reduce muscle spasticity
Flexeril (Cyclobenzadrine)
- muscle relaxant
- given orally
Anti-seizure Medications
Depakene (Valproic Acid)
given in tablet or liquid form.
help control and eliminate
seizures.
Valium (Diazepam)
- muscle relaxant
- given orally, intramuscularly or
by intravenous injection
- help relieve muscle spasms
Dilantin (Phenytoin)
- given by mouth, injection or
intravenously.
- help slow, control or stop
seizures.
Epival (Divalproex)
- given by mouth.
- help control or eliminate seizures.
Klonopin, Rivotril (Clonazepam)
- given by mouth in capsule form.
- control minor seizures
Tegretol (Carbamazepine)
- given by mouth
-help control or eliminate
seizures and help relieve pain
caused by neurological problems.
Zarontin (Ethosuximide)
- given in both capsule and liquid
form.
- help control or eliminate petit
mal seizures.
2) Surgery
-Orthopedic surgery is often
recommended when spasticity and stiffness
are severe enough to make walking and
moving about difficult or painful.
44 Pediatric conditions Hand notes
References
Neuromuscular disorder :
Occupational Therapy for
children by Jane Case –
Smith
Cerebral palsy :
http://www.medicinenet.com/
cerebral_palsy/article.htm
http://www.about-cerebral-
palsy.org/definition/spastic-
athetoid-ataxic.html
http://www.healing-
arts.org/children/cp/cpdrugs.h
tm#Dantrium
Chronic Cardiac Disorder
Definition
Heart is composed primarily with cardiac
muscle tissue that contract and relax without
stop until death. It must have a constant
supply of oxygen and nutrients. The damage
of cardiac muscle tissue will serve a
myocardial infarction or heart disease. It is
the chronic cardiac disorder.
Conditions affecting children may be
congenital or acquired. They can be child‘s
primary condition or can be associated with
other conditions like Down Syndrome.
Types of chronic cardiac disorder
conditions:
1. Congenital heart disease
- Meaning it is present from birth. It is the
problem with the structure or function of
heart as a result of an abnormality that
occurred during development of heart.
All congenital heart defects originate before
the end of the first trimester of gestatition, as
heart develops early in embryonic life and is
completely formed and functioning by 10
weeks.
It is divided into two types :
a) Cyanotic defects- blue discoloration
caused by a relative lack of oxygen.Blood is
shunted from right to left, and unoxygenated
is returned to the body. As a result, arterial
oxygen saturation levels fall below normal.
b) Acyanotic defects- oxygen saturation is
normal and the blood shunts from the left
side of heart to the right side. Thus,
45 Pediatric conditions Hand notes
oxygenated blood flows to the lung as well
as body. Common conditions : aortic
stenosis, atrial and ventricular septal defects,
coarctation of aorta, patent ductus arteriosis,
and endocardial cushion defect.
Major causes of this problem:
a) maternal infections
b) drug and alcohol during pregnancy.
c) chromosomal abnormalities and genetic
syndromes. (eg : Trisomy 21)
Sign and Symptoms
The symptoms of CHD become evident at
birth, during infancy, or even later in life.
Without interventions, some heart defect
may cause death, especially in infancy.
Symptoms of CHD :
Respiratory difficulties
Fatigue
Lack of tolerance for prone position.
Poor weight gain.
Feeding difficulties.
Investigation
-Impact to the children‘s occupational
performance...In childhood, commonly seen
deficits are in areas of play and activities of
daily living and also feeding.
- The body function most frequently affected
are the sensorimotor, especially motor and
neuromusculoskeletal.
- social participation in school or any
activities may be interrupted because of
bacterial illness, hospitalization and lack of
stamina.
- In adolescence, children with this illness
experience:
Delayed physiological maturation
Risk for psychosocial problems
Particularly anxiety
Depression
Poor self esteem and body image
Poor social interactions
Medical Management
1. To monitor patient‘s response activity.
2. Educate patient about disease process,
risk factors and lifestyle modifications.
3. Nitrate Drugs ( patch or spray)- use for
treatment and prevention of angina. Also for
treatment acute left ventricular failure. It is
used to treat acute chest pain, and if
symptoms change or unrelieved by nitrate
seek medical attention.
4. Beta-Andrenoceptor Antagonist-
Treatment of hypertension, Coronary artery
disease, Treatment for arrhythmia
(Following myocardial infarction, SVT, or
A.Fib), and Treatment for stable heart
failure..
5. Angiostensin Converting Enzyme
Inhibitors- for treatment of hypertension.
Prevention of cardiac remodeling following
myocardial infarction
2. Acquired Heart Disease (AHD)
This kind of heart disease is preventable if
precautions are taken and a pediatric
cardiologist informs the parent. This type of
heart disease occurs in childhood 1-4 per
1000 children.
46 Pediatric conditions Hand notes
Two most popular types of AHD are :
a) Kawasaki Disease
b) Rheumatic Heart Disease (RHD)
RHD is one of the most serious form of
heart disease of childhood and adolescene.
The disease involve damage of heart and
membrane.
Causes
It is caused by Rheumatic Fever. Rheumatic
Fever is an inflammatory disease which may
develop after an infection with streptococcus
bacteria, such as strep throat or scarlet fever.
It can involve the heart, joints, skin,
and brain.
It primarily affects the children between
ages 6 to 15 and occurs approximately 20
days after strep throat or scarlet fever.
Symptoms of RHD
Breathlessness
Fatigue
Palpitations
Chest pain
Fainting attacks.
And, symptoms of Rheumatic Fever:
Fever
Joint pain, migratory arthritis -- involving
primarily knees, elbows, ankles, and wrists
Joint swelling
Abdominal pain
Medical Management
Get a bed rest.
Administration of antibiotics
Anti-inflamontary medications.
May include surgery
The best way to prevent rheumatic heart
disease is to seek immediate medical
attention to a strep throat and not let it
progress to rheumatic fever.
* Strep throat is an infection of mucous
membrane lining the pharynx. It is caused
by bacteria. Sometimes the tonsils is
infected.
47 Pediatric conditions Hand notes
Common of Congenital Heart
Disease
1. Cyanotic: Tetralogy of Fallot.
It is the condition because of low oxygen
level in blood. This leads to cyanosis (bluish
purple colour to skin )
It also included four related defects of heart
and major blood vessels :
Ventricular Septal Defects ( hole
between right and left ventrical )
Narrowing of the pulmonary outflow
tract (valve and artery connect heart
with lung)
Overriding aorta ( artery that carry
oxygen rich blood to the body ),that
is shifted over the right ventricle and
ventricular septal defect, instead of
coming out from left ventricle.
Right ventricle hypertrophy
(thickened muscular wall of right
ventricle)
Tetralogy of Fallot is rare, but it is the most
common form of cyanotic congenital heart
disease. Patients with tetralogy of Fallot
have a higher incidence of major non-heart
congenital defects.
At birth, infants may not show signs of
cyanosis. However, later they may develop
sudden episodes (called "Tet spells") of
bluish skin from crying or feeding.
Factors that increase the risk this condition
during pregnancy :
Alcoholism in the mother
Diabetes
Mother who is over 40 years old
Poor nutrition during pregnancy
Rubella or other viral illnesses
during pregnancy
Symptoms
Clubbing of fingers (skin or bone
enlargement around the
fingernails)
Cyanosis, which becomes more
pronounced when the baby is upset
Difficult feeding (poor feeding
habits)
Failure to gain weight
Passing out
Poor development
Squatting during episodes of
cyanosis
Treatment
Surgery to repair tetralogy of Fallot is done
when the infant is very young. Sometimes
more than one surgery is needed. When
more than one surgery is used, the first
surgery is done to help increase blood flow
to the lungs.
Surgery to correct the problem may be done
at a later time. Often only one corrective
surgery is performed in the first few months
of life. Corrective surgery is done to widen
part of the narrowed pulmonary tract and
close the ventricular septal defect.
Expectations (prognosis)
Most cases can be corrected with surgery.
Babies who have surgery usually do well.
48 Pediatric conditions Hand notes
Ninety percent survive to adulthood and live
active, healthy, and productive lives.
Without surgery, death usually occurs by the
time the person reaches age 20.
Patients who have continued, severe
leakiness of the pulmonary valve may need
to have the valve replaced.
Regular follow-up with a cardiologist to
monitor for life-threatening arrhythmias
(irregular heart rhythms) is recommended.
If a child with tetralogy of Fallot becomes
blue, immediately place the child on his
or her side or back and put the knees up to
the chest. Calm the baby and seek medical
attention immediately.
2. Ventricular Spetal Defect (VSD)
Ventricular Spetal defect describes one or
more holes in the wall that separates the
right and left ventricles of the heart.
Ventricular Spetal defect is one of the most
common congenital (present from birth)
heart defects. It may occur by itself or with
other congenital diseases.
Causes
Before a baby is born, the right and left
ventricles of its heart are not separate. As
the fetus grows, a wall forms to separate
these two ventricles. If the wall does not
completely form, a hole remains. This hole
is known as a ventricular Spetal defect, or a
VSD.
The baby may have no symptoms, and the
hole can eventually close as the wall
continues to grow after birth. If the hole is
large, too much blood will be pumped to the
lungs, leading to heart failure.
The cause of VSD is not yet known. This
defect often occurs along with other
congenital heart defects.
Symptoms
Patients with ventricular Spetal defects may
not have symptoms. However, if the hole is
large, the baby often has symptoms related
to heart failure.
The most common symptoms include:
Shortness of breath
Fast breathing
Hard breathing
Paleness
Failure to gain weight
Fast heart rate
Sweating while feeding
Frequent respiratory infections
Investigation
Listening with a stethoscope usually reveals
a heart murmur (the sound of the blood
crossing the hole). The loudness of the
murmur is related to the size of the defect
and amount of blood crossing the defect.
Tests may include:
Chest x-ray -- looks to see if there
is a large heart with fluid in the
lungs
49 Pediatric conditions Hand notes
ECG -- shows signs of an enlarged
left ventricle
Echocardiogram -- used to make a
definite diagnosis
Cardiac catheterization (rarely
needed, unless there are concerns
of high blood pressure in the lungs)
MRI of the heart -- used to find out
how much blood is getting to the
lungs
*Electrocardiogram (ECG)- records the
electrical activity of heart.
An ECG is used to measure :
1. any damage to heart
2. size and position of your heart chamber
3. how fast your heart beating
4. effects of drugs or devices used to
control heart.
Medical Management
Baby with large VSD who have
symptoms may need medicine to control
it and suffer to close the hole.
Medications : digitalis (digoxin) and
diuretics.
If symptoms continued, surgery with a
Gore-Tex patch is needed. Some VSD can
be closed with a special device during
cardiac catherization (infrequently)
*catherization - involves passing a thin
flexible tube (catheter) into the right or
left side of the heart, usually from the
groin or the arm.
Do not drinking alcohol and using the
antiseizure medicine depakote and
dilantin during pregnancy to prevent
VSD.
3. Atrial Spetal Defect (ASD)
ASD is the defect which the wall separate
the upper heart chambers (atria) does not
close completely.
Causes
In fatal circulation, the atria are open to
allow blood to bypass to the lung. This
opening usually close around the time baby
is born.
If ASD is persistent, blood continues to flow
from left to right atria. This called a shunt. If
too much blood flows to the right of heart,
pressure in lungs will high. The problem
will occur if the shunt is too large, increased
pressure of the right side of heart would
result in reversal of blood flow..This will
result in shortness of breath.
Individual with ASD may risk for
developing number of complications:
Atrial fibrillation (in adults)
Heart failure
Pulmonary overcirculation
Pulmonary hypertension
Stroke
Symptoms
Small to moderate size may not produce
any symptoms.
Difficulty breathing (dyspnea)
50 Pediatric conditions Hand notes
Frequent respiratory infections in
children
Sensation of feeling the heart beat
(palpitations) in adults
Shortness of breath with activity
Investigation
Doctor may hear abnormal heart sounds
using stethoscope.
If the shunt is large, increased blood flow
across tricuspid valve may create an
additional murmur when heart relaxes
between beats.
Test may done :
Cardiac catheterization
Chest x-ray
Coronary angiography (for patients
over 35 years old)
Doppler study of the heart
ECG
Echocardiography
Heart MRI
Transesophageal echocardiography
(TEE)
Medical Management
Surgical closer is recommended if the
defect is large, heart is swollen, or
symptoms occur.
-The health care provider makes a tiny
surgical cut in the groin, then inserts the
catheters into a blood vessel and up into
the heart. The closure device is then
placed across the ASD and the defect is
closed.
*not all patients can have this procedure.
-Prophylactic (preventive) antibiotics
should be given prior to dental procedures
to reduce the risk of developing infective
endocarditis immediately after surgery for
the ASD, but they are not required later
on.
4. Patent Ductus Arteriousus
Patent = open
It is the condition which a blood vessel
called ductus arteriousus fails to close
normally at infant soon after birth.
The condition leads to abnormal blood
flow between aorta and pulmonary artery,
blood vessels that carry blood from the
heart.
Causes
Before birth, ductus arteriousus allows
blood to bypass the baby‘s lung by
connecting pulmonary arteries ( supply
blood to lung) with aorta (supply blood to
body). After infant is born, and lungs fill
with air, this blood vessels is no longer
needed.
- PDA affects girl more often than boy.
- Infants with genetic disorder, such as
Down syndrome, and whose mother has
rubella during pregnancy are higher risk
for PDA.
- PDA is common in babies with
congenital heart problems, such as
hypoplastic left heart syndrome,
51 Pediatric conditions Hand notes
transposition of great vessels, and
pulmonary ste nosis.
Symptoms
Small PDA may not causes any symptom
Bounding pulse
Fast breathing
Poor feeding habits
Shortness of breath
Sweating while feeding
Tiring very easily
Poor growth
Investigation
Babies with PDA often have a
characteristic heart murmur that can be
heard using stethoscope.
- In premature infants, heart murmur may
not hear. But, the doctor may suspect the
condition if infant has breathing or
feeding problems soon after birth.
- Changes may be seen on chest x-rays.
The diagnosis is confirmed with an
echocardiogram.
Medical Management
Medications such as indomethacin
or a special form of ibuprofen are
generally the first choice.
*indomethacin and ibuprofen -
Drug that used to relieve moderate
severe pain, tenderness, swelling
and stiffness. It works by stopping
body‘s production of substance
that causes pain, inflammation and
fever.
If these do not work, medical
procedures may be needed.
A transcatheter device closure is a
minimally invasive procedure that
uses a thin, hollow tube. The doctor
passes a small metal coil or other
blocking device through the catheter
to the site of the PDA. This blocks
blood flow through the vessel. Such
endovascular coils have been used
successfully as an alternative to
surgery.
Surgery may be needed if the
catheter procedure does not work or
cannot be used. Surgery involves
making a small cut between the ribs
to repair the PDA.
52 Pediatric conditions Hand notes
Traumatic Injuries
Introduction
Traumatic is an injury (referred as a wound)
to living tissue caused by an extrinsic agent.
It is also known as a disordered psychic or
behavioral state resulting from severe
mental or emotional stress or physical
injury. Injury means damage gained by a
biological organism. In this context,
traumatic injuries can be concluded as body
wound or shock produced by sudden
physical injuries. Traumatic injuries may
lead a patient to a difficult, abnormal and
strange life due to the traumatic injuries. He
or she might lose ability to do certain works
.in order to return to normal life, specific
treatments are needed and must be done
carefully and consistently. The examples of
traumatic injuries are fractures, congenital
hip dislocation and head injuries. These
abnormal conditions are going to be
described with full details.
Fractures
Definition
A fracture is the separation of an object or
material into two or more due to the action
of stress. In the medical term, fracture is
more often applied to the broken bones in
the biological organism such as Homo
sapiens, human. Broken bones or fracture
mostly occurs due to high physical force
exerted on the bones such as jumping,
collapsing hard materials with high impact
and overlayed by heavy items.
Types of fractures
Closed (simple) fractures are those in
which the skin is intact
Open (compound) fractures are
wounds that relate with the fracture, or
where fracture hematoma is exposed,
and may thus expose bone
to contamination. Open injuries may
carry more risky infection
Complete fracture: a fracture in which
bone fragments separate completely.
Incomplete fracture: a fracture in
which the bone fragments are still
partially joined.
Linear fracture: a fracture that is
parallel to the long of bone axis.
Transverse fracture: a fracture that is at
a right angle to the long of bone axis
Oblique fracture: a fracture that is
diagonal to a long of bong axis.
Spiral fracture: a fracture where at least
part of bone has been twisted
53 Pediatric conditions Hand notes
Comminuted fracture: a fracture in
which the bone has broken into a
number of pieces.
Impacted fracture: a fracture caused
when bone fragments are driven into
each other.
Causes
Advanced age
Certain genetic disorders
Excessive tobacco or alcohol
consumption
Female gender
Lack of physical activity on a regular
basis
Lack of proper nutrition, especially
calcium
Osteoporosis (thinning and
weakening of the bones)
Participation in sports
Thyroid or endocrine disorders
Vitamin deficiencies
Symptoms
Bleeding
Inability to move a joint
Numbness and tingling in the
affected region
Redness and warmth
Bruising
Signs
Pain
Swelling
Bruising.
Redness
Deformity
Diagnosis
Physical examination
Most fractures cause swelling, deformity,
and pain on attempted movement. In non-
communicative patients, refusal to mobilize
extremely may be the only sign of a fracture
or dislocation. Carrying out an assessment
of the sensory, motor and circulatory status
of the injured extremity is important before
therapy is initiated. After application of a
cast, splint, or traction or after manipulation
of a fractured extremity. Reevaluation of
neuromuscular of the limb should be carried
out always. When injury or makes physical
examination unreliable, x-rays are required
to detect a fracture.
54 Pediatric conditions Hand notes
Diagnostic tests
X-rays:
X-ray should include both anteroposterior
and lateral views. On a single view, the
characteristic displacement, discontinuity in
contour, or altered alignment of a fracture
may be hidden because of overlap of
projection, oblique views can be helpful.
Computed tomography:
Computed tomography is a useful adjunct to
plain x-rays in several circumstances
visualization of occult fracture can be
obtained. It determines the extent of
articular surface disruption in joint fractures.
Then, it may assess suspected pathologic
fractures.
Magnetic resonance imaging (MRI):
Providing excellent tomography, soft tissue
contrast and spartial resolution using
noninvasive and ionizing radiation
technology.mri also helps evaluating
pathologic fractures. It can also view occult
fractures.
Bone scan:
Using 99m
tc-labeled pyrophosphate or
similar radioactive analogs. It detects focal
injury of bone. It also scans whole body.
Medical management
Splinting
Prevents movement in the joints and bones
above and below of the fracture site. This is
to prevent bone edges from moving and
creating additional injuries at tissue,
muscles, vessels or nerves.
Examples of splinting:
Padded boards and rigid splints made of
foam or cardboard are commonly used for
upper- and lower-extremity fractures.
Vacuum splints are essentially large air
bladders that wrap around the affected
extremity and are inflated to provide
rigidity.
Traction splints are used to immobilize
fractures of the femur. These types of splints
use tension that's created by pulling straps to
place the bone in alignment.
55 Pediatric conditions Hand notes
Head injuries
Head injury is trauma of the head. A head
injury is any trauma that leads to injury of
the scalp, skull, or brain. The injuries can be
ranged from a minor bump on the skull to
serious brain injury.
Types of head injury
Skull fracture
Hemorrhage of the skin
Traumatic subdural hematoma
Traumatic extradural
Traumatic subarachnoid hemorrhage
Cerebral contusion
Concussion
Dementia pugilistica
A severe injury may lead to a coma
or death
Shaken baby syndrome - a form of
child abuse
Causes
Motor vehicle collisions
Home
Occupational accidents
Falls
Assaults
Bicycle accidents
Wilsons disease
Signs
Coma
Confusion
Drowsiness
Personality change
Seizures
Nausea
Vomiting
Headache
Lucid interval
Symptoms
loss of consciousness
headache
nausea
vomiting
dizziness
memory loss
behavioral changes
blurred vision
irritability
seizures
balance problems
Diagnosis
Computerized tomography (ct) scan of the
head allows the brain to be
imaged,visualized and examined for
bleeding and swelling in the brain. It can
56 Pediatric conditions Hand notes
also evaluate bony injuries to the skull and
look for bleeding in the sinuses of the face.
Medical management
The brain has been severely damaged by
trauma, neurosurgical evaluation may be
necessary. Treatments involve controlling
elevated intracranial pressure. Paralytics
Cerebrospinal fluid diversion
Decompressive craniectomy
Barbiturate coma
Hypertonic saline
Hypothermia.
References
Http://medical-
dictionary.thefreedictionary.com/traumatic+
injury
Http://www.webmd.com/a-to-z-
guides/understanding-fractures-basic-
information
Http://medical-
dictionary.thefreedictionary.com/incomplete
+fracture
Http://emedicine.medscape.com/article/1248
135-overview
57 Pediatric conditions Hand notes
Sensory Impairments
Definition:
It refers to a defect in sensing and passing
on the impulse. It leads in absence of
sensation and neuronal-coordination. People
that have sensory impairments: not able to
smell, view, hear, feel and react to the
stimuli given to the respective sensory
organs.
Types of sensory impairments:
Visual impairment: is the vision loss
resulting from disease, trauma or congenital
condition. (example: blind)
Hearing impairments: is refers to hard in
hearing or deafness. The individuals are
fully or partially unable to detect at least
some frequency sound that can be heard by
most people.
Olfactory and gustatory impairments:
Impairment of the sense of smell and taste
are commonly associated with aging but can
also occur in younger people due to a wide
variety of causes.
Anosmia – inability to smell
Dysosmia – things smell different
than they should
Hyperosmia– an abnormally acute
sense of smell.
Hyposmia– decreased ability to smell
Olfactory Reference Syndrome–
psychological disorder which causes
the patient to imagine he has strong
body odor
Parosmia – things smell worse than
they should
Phantosmia– "hallucinated smell,"
often unpleasant in nature
Somatosensory Impairments: Insensitivity to
stimuli such as touch, heat, cold, and pain
are often an adjunct to a more general
physical impairment involving neural
pathways and is very commonly associated
with paralysis
Deaf blindness:
1. Congenital deaf blindness is when
someone is born with combined sight and
hearing difficulties.
2. Acquired deaf blindness is when they
develop these problems later in life due to an
accident, illness or as a result of ageing in
later life.
Causes of Sensory Impairments
Blindness: diabetes, cataracts,
glaucoma, stroke, leprosy and
vitamin A deficiency.
Deafness: earwax blockage, aging,
prolonged exposure to loud noises
and ear infections.
Olfactory and gustatory
impairments: aging process, upper
respiratory infection, oral and
perioral infections.
Deaf blindness: premature birth, fetal
alcohol syndrome, rubella and
trauma related.
58 Pediatric conditions Hand notes
Clinical Presentation
Signs and symptoms of hearing loss may
include:
Muffled quality of speech and other
sounds
Difficulty understanding words,
especially against background noise
or in a crowd of people
Frequently asking others to speak
more slowly, clearly and loudly
Needing to turn up the volume of the
television or radio
Withdrawal from conversations
Avoidance of some social settings
Signs and symptoms of visual
impairments:
Flashing lights
Distorted vision
Blurred vision
Blind spot
Investigation
Diagnosis of blindness: by visual acuity
testing in each eye individually and by
measuring the visual field or peripheral
vision. People may have blindness in one
(unilateral blindness) or both eyes (bilateral
blindness). Historical information regarding
the blindness can be helpful in diagnosing
the cause of blindness. Poor vision that is
sudden in onset differs in potential causes
than blindness that is progressive or chronic.
Temporary blindness differs in cause from
permanent blindness. The cause of blindness
is made by examination of all parts of the
eye by an ophthalmologist.
Diagnosis of deafness:
General screening tests. Your doctor
may ask you to cover one ear at a
time to see how well you hear words
spoken at various volumes and how
you respond to other sounds.
Tuning fork tests. Tuning forks are
two-pronged, metal instruments that
produce sounds when struck. Simple
tests with tuning forks can help your
doctor detect hearing loss. A tuning
fork evaluation may also reveal
whether hearing loss is caused by
damage to the vibrating parts of your
middle ear (including your eardrum),
damage to sensors or nerves of your
inner ear, or damage to both.
Audiometer tests. During these
more-thorough tests conducted by an
audiologist, you wear earphones and
hear sounds directed to one ear at a
time. The audiologist presents a
range of sounds of various tones and
asks you to indicate each time you
hear the sound. Each tone is repeated
at faint levels to find out when you
can barely hear.
Medical Management
Hearing impairments:
Removing wax blockage. Earwax
blockage is a common reversible
cause of hearing loss. Your doctor
may remove earwax by loosening it
with oil and then flushing, scooping
59 Pediatric conditions Hand notes
or suctioning the softened wax out.
Hearing aids. If your hearing loss is
due to damage to your inner ear, a
hearing aid can be helpful by making
sounds stronger and easier for you to
hear. In some cases, you may be
satisfied with an inexpensive, over-
the-ear microphone device available
at electronic stores.
Cochlear implants. If you have
severe hearing loss, a cochlear
implant may be an option for you.
Unlike a hearing aid that amplifies
sound and directs it into your ear
canal, a cochlear implant
compensates for damaged or
nonworking parts of your inner ear.
Vision Impairments: The treatment of
blindness depends on the cause of blindness.
In third-world nations where there
are many people who have poor
vision as a result of a refractive error,
merely prescribing and giving
glasses will alleviate the problem.
Nutritional causes of blindness can
be treating by dietary changes.
People who are blind from cataracts.
In these patients, cataracts surgery
would, in most cases, restore their
sight.
Inflammatory and infectious causes
of blindness can be treated with
medication in the form of drops or
pills.
References
http://health.nytimes.com/health/guid
es/symptoms/blindness/overview.ht
ml
http://www.mayoclinic.com/health/h
earing-
loss/DS00172/DSECTION=causes
http://www.mayoclinic.com/health/h
earing-
loss/DS00172/DSECTION=sympto
ms
http://www.cdbrabc.ca/causes_of_db
1.htm
http://www.wellsphere.com/healthy-
living-article/5-symptoms-that-
could-mean-you-are-going-
blind/1279733
http://www.medicinenet.com/blindne
ss/page3.htm#treatment
60 Pediatric conditions Hand notes
Down syndrome
Definition
Down's syndrome (primarily in the United
Kingdom), trisomy 21, is a chromosomal
condition caused by the presence of all or
part of an extra 21st chromosome. It is
named after John Langdon Down, the
British physician who described the
syndrome in 1866
Down syndrome is a chromosomal
condition characterized by the
presence of an extra copy of genetic
material on the 21st chromosome,
either in whole (trisomy 21) or part
(such as due to translocations). The
effects and extent of the extra copy
vary greatly among people,
depending on genetic history, and
pure chance. The incidence of Down
syndrome is estimated at 1 per 733
births, although it is statistically
more common with older parents
(both mothers and fathers) due to
increased mutagenic exposures upon
some older parents' reproductive
cells
Often Down syndrome is associated
with some impairment of cognitive
ability and physical growth, and a
particular set of facial characteristics.
Individuals with Down syndrome
tend to have a lower-than-average
cognitive ability, often ranging from
mild to moderate disabilities. Many
children with Down syndrome who
have received family support,
enrichment therapies, and tutoring
have been known to graduate from
high school and college, and enjoy
employment in the work force. The
average IQ of children with Down
syndrome is around 50, compared to
normal children with an IQ of 100. A
small number have a severe to high
degree of intellectual disability.
Individuals with Down syndrome
may have some or all of the
following physical characteristics:
microgenia (an abnormally small
chin), an unusually round face,
macroglossia (protruding or
oversized tongue), an almond shape
to the eyes caused by an epicanthic
fold of the eyelid, upslanting
palpebral fissures (the separation
between the upper and lower
eyelids), shorter limbs, a single
transverse palmar crease (a single
instead of a double crease across one
or both palms), poor muscle tone,
and a larger than normal space
between the big and second toes.
Health concerns for individuals with
Down syndrome include a higher
risk for congenital heart defects,
gastroesophageal reflux disease,
recurrent ear infections that may lead
to hearing loss, obstructive sleep
apnea, and thyroid dysfunctions.
Causes
1. Genetic passing through metabolic
diseases: The disease is passing
through from the parent to the baby.
Genetic and metabolic disorder is
difficult to diagnosis in the new
born. The baby will look healthy and
will not have symptom when they
are born, because the disease will not
attack until the time when children
start contact their surrounding
environment.
61 Pediatric conditions Hand notes
2. Immune disorder : The immune
function becomes react to certain
situations and starts to attack the
brain tissues, it is important to
abnormal movements of body,
disturb in emotion and
obsessive(thinking too much)
disorder symptoms.
3. Infectious disease : Infectious
diseases is defined as a type of
disease that can transmit from the
carrier to other person through one or
more of type of ways, include
physical contact, share food, body
fluid, and so on.
4. Nutritional deficiency: Women
who have folic acid and iodine
deficiency during their pregnancy
can cause risk to their babies in
contact neurodevelopmental
disorders, leading to excessive
mental retardation. Taking of both
can cause brain damage as it result of
toxins carry forward in the new born
central nervous system.
5. Physical trauma : Most cases of
physical trauma is caused by
congenital injury, it happen because
of injured as result of lack of oxygen
to the brain or damage to the brain
tissues, leading to cerebral palsy that
cause lasting physical disability in
child development.
6. Environment toxic: 5000
environment toxins have made of
human, include heavy metals such as
lead and mercury. If the child is
unlucky to have high levels of heavy
metal are gathered in their brain to
detoxification dysfunction of body
organs, it can caused brain damage,
known to impairment of emotional
and physical development.
7. Medication: Some vaccines are use
to protect the child at the beginning
of the disease. One of the vaccine,
thimerosal contains 50 time more
toxins than the free mercury, if the
baby not remove them, it will cause
mercury in the brain, leading to brain
damage and consider the child
development.
Signs and symptoms
Down syndrome are characterized by
the neotenization of the brain and
body to the fetal state. Down
syndrome is characterized by
decelerated maturation (neoteny),
Incomplete morphogenesis (vestigia)
and atavisms.
Down syndrome can result from several
different genetic mechanisms. This results in
a wide variability in individual due to
complex gene and environment interactions.
Prior to birth, it is not possible to predict the
symptoms that an individual with Down
syndrome will develop.
Physical characteristics
Individuals with Down syndrome
may have some or all of the
following physical characteristics:
Microgenia (abnormally small chin),
oblique eye fissures with epicanthic
skin folds on the inner corner of the
eyes (formerly known as a
mongoloid fold),
Muscle hypotonia (poor muscle
tone), a flat nasal bridge, a single
62 Pediatric conditions Hand notes
palmar fold, a protruding tongue
(due to small oral cavity, and an
enlarged tongue near the tonsils)
Macroglossia "face is flat and broad"
a short neck, white spots on the iris
known as Brushfield spots,
excessive joint laxity including
atlanto-axial instability,
Excessive space between large toe
and second toe, a single flexion
furrow of the fifth finger, a higher
number of ulnar loop dermatoglyphs
and short fingers.
Growth parameters such as height,
weight, and head circumference are
smaller in children with DS than
with typical individuals of the same
age. Adults with DS tend to have
short stature and bowed legs—the
average height for men is 5 feet
1 inch (154 cm) and for women is 4
feet 9 inches (144 cm). Individuals
with DS are also at increased risk for
obesity as they age and tend to be
"round in shape".
Charact
eristics
Perce
ntage
Charact
eristics
Perce
ntage
Mental
retardatio
n
100% Small
teeth
60%
Stunted
growth
100% Flattened
nose
60%
Atypical
fingerprin
ts
90% Clinodacty
ly
52%
Separatio
n of the
abdomina
l muscles
80% Umbilical
hernia
51%
Flexible
ligaments
80% Short neck 50%
Hypotoni
a
80% Shortened
hands
50%
Brachyce
phaly
75% Congenital
heart
45%
disease
Smaller
genitalia
75% Single
transverse
palmar
crease
45%
Eyelid
crease
75% Macroglos
sia (larger
tongue)
43%
Shortened
extremitie
s
70% Epicanthal
fold
42%
Oval
palate
69% Strabismu
s
40%
Low-set
and
rounded
ear
60% Brushfield
spots (iris)
35%
Mental characteristics
Most individuals with Down
syndrome have intellectual disability
in the mild (IQ 50–70) to moderate
(IQ 35–50) range, with individuals
having Mosaic Down syndrome
typically 10–30 points higher
Language skills show a difference
between understanding speech and
expressing speech, and commonly
individuals with Down syndrome
have a speech delay. Fine motor
skills are delayed and often lag
behind gross motor skills and can
interfere with cognitive
development. Effects of the
condition on the development of
gross motor skills are quite variable.
Some children will begin walking at
around 2 years of age, while others
will not walk until age 4. Physical
therapy, and/or participation in a
program of adapted physical
education (APE), may promote
enhanced development of gross
motor skills in Down syndrome
children
63 Pediatric conditions Hand notes
Screening
Pregnant women can be screened for various
complications during pregnancy. Many
standard prenatal screens can discover
Down syndrome.
Genetic counseling along with
genetic testing, such as
amniocentesis, chorionic villus
sampling (CVS), or percutaneous
umbilical cord blood sampling
(PUBS) are usually offered to
families who may have an increased
chance of having a child with Down
syndrome, or where normal prenatal
exams indicate possible problems.
Amniocentesis and CVS are
considered invasive procedures, in
that they involve inserting
instruments into the uterus, and
therefore carry a small risk of
causing fetal injury or miscarriage.
The risks of miscarriage for CVS and
amniocentesis are often quoted as
1% and 0.5% respectively. There are
several common non-invasive
screens that can indicate a fetus with
Down syndrome. These are normally
performed in the late first trimester
or early second trimester. Due to the
nature of screens, each has a
significant chance of a false positive,
suggesting a fetus with Down
syndrome when, in fact, the fetus
does not have this genetic condition.
Screen positives must be verified
before a Down syndrome diagnosis
is made.
Health problems
Individuals with Down syndrome have a
higher risk for many conditions. The
medical consequences of the extra genetic
material in Down syndrome are highly
variable and may affect the function of any
organ system or bodily process. Some
problems are present at birth, such as certain
heart malformations. Others become
apparent over time, such as epilepsy.
Congenital heart disease
The incidence of congenital heart disease in
children with Down syndrome is up to 50%.
An atrioventricular septal defect also known
as endocardial cushion defect is the most
common form with up to 40% of patients
affected. This is closely followed by
ventricular septal defect that affects
approximately 30% of patients.
Malignancies
Hematologic malignancies such as leukemia
are more common in children with DS. In
particular, the risk for acute lymphoblastic
leukemia is at least 10 times more common
in DS and for the megakaryoblastic form of
acute myelogenous leukemia is at least 50
times more common in DS. Transient
leukemia is a form of leukemia that is rare in
individuals without DS but affects up to 20
percent of newborns with DS. This form of
leukemia is typically benign and resolves on
its own over several months, though it can
lead to other serious illnesses. In contrast to
hematologic malignancies, solid tumor
malignancies are less common in DS,
possibly due to increased numbers of tumor
suppressor genes contained in the extra
genetic material.
Decreased incidence of many cancer types
Health benefits of Down syndrome include
greatly reduced incidence of many common
malignancies except leukemia and testicular
cancer
64 Pediatric conditions Hand notes
Thyroid disorders
Individuals with DS are at increased risk for
dysfunction of the thyroid gland, an organ
that helps control metabolism. Low thyroid
(hypothyroidism) is most common,
occurring in almost a third of those with DS.
This can be due to absence of the thyroid at
birth (congenital hypothyroidism) or due to
attack on the thyroid by the immune system
Gastrointestinal
Down syndrome increases the risk of
Hirschsprung's disease, in which the nerve
cells that control the function of parts of the
colon are not present.[ This results in severe
constipation. Other congenital anomalies
occurring more frequently in DS include
duodenal atresia, annular pancreas, and
imperforate anus. Gastroesophageal reflux
disease and celiac disease are also more
common among people with DS.
Infertility
There is infertility among both males and
females with Down syndrome; males are
usually unable to father children, while
females demonstrate significantly lower
rates of conception relative to unaffected
individuals.[citation needed]
Women with DS are
less fertile and often have difficulties with
miscarriage, premature birth, and difficult
labor. Without preimplantation genetic
diagnosis, approximately half of the
offspring of someone with Down syndrome
also have the syndrome themselves. Men
with DS are almost uniformly infertile,
exhibiting defects in spermatogenesis. There
have been only three recorded instances of
males with Down syndrome fathering
children.
Neurology
Children and adults with DS are at increased
risk for developing epilepsy. The risk for
Alzheimer's disease is increased in
individuals with DS, with 10–25% of
individuals with DS showing signs of AD
before age 50, up to 50% with clinical
symptoms in the sixth decade, and up to
75% in the 7th decade. This sharp increase
in the incidence and prevalence of dementia
may be one of the factors driving the
decreased life expectancy of persons with
Down Syndrome.
Ophthalmology and otolaryngology
Eye disorders are more common in people
with DS. Almost half have strabismus, in
which the two eyes do not move in tandem.
Refractive errors requiring glasses or
contacts are also common. Cataracts
(opacity of the lens), keratoconus (thin,
cone-shaped corneas), and glaucoma
(increased eye pressures) are also more
common in DS Brushfield spots (small
white or grayish/brown spots on the
periphery of the iris) may be present.
Hearing loss
In the past, prior to current treatment, there
was a 38–78% incidence of hearing loss in
children with Down syndrome. Fortunately,
with aggressive, meticulous and compulsive
diagnosis and treatment of chronic ear
disease (e.g. otitis media, also known as
Glue-ear) in children with Down syndrome,
approximately 98% of the children have
normal hearing levels.
However, more recent studies show that
hearing impairment and otological problems
are still found in 38-90% of children with
65 Pediatric conditions Hand notes
Down syndrome compared to 2.5% for
normal children.
The elevated occurrence of hearing loss for
individuals with Down is not surprising.
Every component in the auditory system is
potentially adversely affected by Down
syndrome[. Problems may include:
Stenosis of the ear canal
Malformation of the malleus, incus, and
stapes
Shortened or narrow cochlea
Neural transmission rates that are
accelerated (at the level or brainstem) or
delayed (at the level of the cortex)
Weak immune system leading to
increased middle ear pathology
Otitis media with effusion is the most
common cause of hearing loss in Down
children, the infections start at birth and
continue throughout the children‘s lives. The
ear infections are mainly associated with
Eustachian tube dysfunction due to
alterations in the skull base. However,
excessive accumulation of wax can also
cause obstruction of the outer ear canal as it
is often narrowed in children with Down
syndrome. Middle ear problems account for
83% of hearing loss in children with Down
syndrome. The degree of hearing loss varies
but even a mild degree can have major
consequences on speech perception,
language acquisition, development and
academic achievement if not detected in
time and corrected.
Early intervention to treat the hearing loss
and adapted education is useful to facilitate
the development of children with Down
syndrome, especially during the preschool
period. For adults, social independence
depends largely on the ability to complete
tasks without assistance, the willingness to
separate emotionally from parents and
access to personal recreational activities.
Given this background it is always important
to rule out hearing loss as a contributing
factor in social and mental deterioration.
Other complications
Instability of the atlanto-axial joint occurs in
approximately 15% of people with DS,
probably due to ligamental laxity. It may
lead to the neurologic symptoms of spinal
cord compression.[83]
Periodic screening,
with cervical x-rays, is recommended to
identify this condition.
Other serious illnesses include immune
deficiencies.
Prognosis
The above factors can contribute to a shorter
life expectancy for people with Down
syndrome. One study, carried out in the
United States in 2002, showed an average
lifespan of 49 years, with considerable
variations between different ethnic and
socio-economic groups. However, in recent
decades, the life expectancy among persons
with Down syndrome has increased
significantly up from 25 years in 1980. The
causes of death have also changed, with
chronic neurodegenerative diseases
becoming more common as the population
ages. Most people with Down Syndrome
who live into their 40s and 50s begin to
suffer from an Alzheimer's disease-like
dementia.
Management
Treatment of individuals with Down
syndrome depends on the particular
manifestations of the condition. For
instance, individuals with congenital heart
disease may need to undergo major
corrective surgery soon after birth. Other
66 Pediatric conditions Hand notes
individuals may have relatively minor health
problems requiring no therapy.
Examination at birth
Initial examination of newborns with DS
should pay particular attention to certain
physical signs that are more commonly
found in DS. Evaluation of the red reflex
can help identify congenital cataracts.
Movement of the eyes should be observed to
identify strabismus. Constipation should
raise concerns for Hirschsprung's disease
and feeding problems should prompt intense
education to ensure adequate input and
nutrition.
At birth, an ultrasound of the heart
(echocardiogram) should be done
immediately in order to identify congenital
heart disease (this should be carried out by
someone with experience in pediatric
cardiology). A complete blood count should
be done in order to identify pre-existing
leukemia. A hearing test using brainstem
auditory evoked responses (BAERS) testing
should be performed and any hearing
deficits further characterized. The thyroid
function should also be tested. Early
Childhood Intervention should be involved
from birth to help coordinate and plan
effective strategies for learning and
development.
The American Academy of Pediatrics,
among other health organizations, has issued
a series of recommendations for screening
individuals with Down Syndrome for
particular diseases. These guidelines enable
health care providers to identify and prevent
important aspects of DS. All other typical
newborn, childhood, and adult screening and
vaccination programs should also be
performed.
Plastic surgery
Plastic surgery has sometimes been
advocated and performed on children with
Down syndrome, based on the assumption
that surgery can reduce the facial features
associated with Down syndrome, therefore
decreasing social stigma, and leading to a
better quality of life. Plastic surgery on
children with Down syndrome is
uncommon, and continues to be
controversial. Researchers have found that
for facial reconstruction, "...although most
patients reported improvements in their
child's speech and appearance, independent
raters could not readily discern
improvement.... For partial glossectomy
(tongue reduction), one researcher found
that 1 out of 3 patients "achieved oral
competence," with 2 out of 3 showing
speech improvement.
Cognitive development
The identification of the best
methods of teaching each particular
child ideally begins soon after birth
through early intervention programs.
Cognitive development in children
with Down syndrome is quite
variable. It is not currently possible
at birth to predict the capabilities of
any individual reliably, nor are the
number or appearance of physical
features predictive of future ability.
Since children with Down syndrome
have a wide range of abilities,
success at school can vary greatly,
which underlines the importance of
evaluating children individually. The
cognitive problems that are found
among children with Down
syndrome can also be found among
other children. Therefore, parents
can use general programs that are
67 Pediatric conditions Hand notes
offered through the schools or other
means.
Individuals with Down syndrome
differ considerably in their language
and communication skills. It is
routine to screen for middle ear
problems and hearing loss; low gain
hearing aids or other amplification
devices can be useful for language
learning. Early communication
intervention fosters linguistic skills.
Language assessments can help
profile strengths and weaknesses; for
example, it is common for receptive
language skills to exceed expressive
skills. Individualized speech therapy
can target specific speech errors,
increase speech intelligibility, and in
some cases encourage advanced
language and literacy. Augmentative
and alternative communication
(AAC) methods, such as pointing,
body language, objects, or graphics
are often used to aid communication.
Relatively little research has focused
on the effectiveness of
communications intervention
strategies.[94]
In education, mainstreaming of
children with Down syndrome is
becoming less controversial in many
countries. For example, there is a
presumption of mainstream in many
parts of the UK. Mainstreaming is
the process whereby students of
differing abilities are placed in
classes with their chronological
peers. Children with Down
syndrome may not age
emotionally/socially and
intellectually at the same rates as
children without Down syndrome, so
over time the intellectual and
emotional gap between children with
and without Down syndrome may
widen. Complex thinking as required
in sciences but also in history, the
arts, and other subjects can often be
beyond the abilities of some, or
achieved much later than in other
children. Therefore, children with
Down syndrome may benefit from
mainstreaming provided that some
adjustments are made to the
curriculum.
68 Pediatric conditions Hand notes
CHILDREN WITH
MOVEMENT
DISORDERS
Ataxia
Definition
Ataxia is defined as delayed initiation of
movement responses, errors in range and
force of movement, and errors in the rate
and regularity of movement.
The agonist and antagonist muscle group is
in poor coordination. In jerky and poorly
controlled movements is result from this.
When a patient with ataxia reaches for an
object, it is apparent that the shortest
distance between the patient and object is
not a straight line. The patient with gait
ataxia has a staggering, wide-based gait with
reduced or no arm swing. The patient may
have a tendency to fall and their step length
may be uneven. The patient with cerebellar
dysfunction isolated to only one cerebeller
hemisphere will have a tendency to fall on
the side of the lesion or dysfunction due to
the ipsilateral influence of the cerebellum on
the lower motor neurons. Ataxia will result
in poor postural stability. Ataxia can occur
in the entire body, in the trunk, or in the UEs
and LEs. Ataxia in the UEs causes
dysfunction in activities in which the patient
attemps to perform a combination of gross
and find motor movements, such as bringing
a glass of water to the mouth. The UEs
oscillates back and forth, causing the water
to spill. Ataxia in the LEs results in an
impaired ability to ambulate while
maintaining balance.
Types
Cerebellar Vestibular ataxia
Ataxia
Sensory ataxia
(1) Cerebellar Ataxia
The term cerebellar ataxia is used to
indicate ataxia that is due to
dysfunction of the cerebellum.
Variety of elementary neurological
deficits is cause by this, such as
antagonist hypotonia, asynergy,
dysmetria, dyschronometria,
and dysdiadochokinesia. These
abnormalities manifest themselves
depends on which cerebellar
structures have been damaged, and
whether the lesion is bilateral or
unilateral impairs the balance and the
control of eye movements is effect
from dysfunction of
the vestibulocerebellum . This
presents itself with postural
instability, in which the patient tends
to separate his/her feet upon
standing, in order to gain a wider
base and to avoid titubation (bodily
oscillations tending to be forward-
backward ones). The instability is
therefore worsened when standing
with the feet together, regardless of
69 Pediatric conditions Hand notes
whether the eyes are open or closed.
The Romberg's test is negative. It
denotes the individual's inability to
carry out the test, because the
individual feels unstable even with
open eyes.
Next, dysfunction of
the spinocerebellum presents itself
with a wide-based "drunken sailor"
gait (called truncal ataxia),
characterised by uncertain starts and
stops, lateral deviations, and unequal
steps.
Then, disturbances in carrying out
voluntary, planned movements by
the extremities (called appendicular
ataxia) is effect from dysfunction of
the cerebrocerebellum. These
include, intention tremor (coarse
trembling, accentuated over the
execution of voluntary movements,
possibly involving the head and eyes
as well as the limbs and torso); then,
peculiar writing abnormalities (large,
unequal letters, irregular
underlining); a peculiar pattern
of dysarthria (slurred speech,
sometimes characterised by
explosive variations in voice
intensity despite a regular rhythm).
There also inability to perform
rapidly alternating movements,
known as dysdiadochokinesia. This
could involve rapidly switching
from pronation to supination of the
forearm. Movements become more
irregular with increases of speed.
Furthermore, cannot judge distances
or ranges of movement. This is
known as dysmetria. It‘s often seen
as undershooting, hypometria, or
overshooting, hypermetria, the
required distance or range to reach a
target. This is sometimes seen when
a patient is asked to reach out and
touch someone's finger or touch their
own nose.
Lastly, the rebound phenomenon,
also known as the loss of the check
reflex is also sometimes seen in
patients with cerebellar ataxia. When
a patient is flexing their elbow
isometrically against a resistance.
When the resistance is suddenly
removed without warning, the
patient's arm may swing up and even
strike themselves. With an intact
check reflex, the patient will check
and activate the opposing triceps to
slow and stop the movement. This is
some example of cerebellar ataxia
with dysfunction of
the cerebrocerebellum.
(2) Sensory Ataxia
The term sensory ataxia is employed
to indicate ataxia due to loss
of proprioception, the loss of
sensitivity to the positions of joint
and body parts. Dysfunction of
the dorsal columns of the spinal cord
is generally caused, because they
carry proprioceptive information up
to the brain. In some cases, the cause
of sensory ataxia may instead by
70 Pediatric conditions Hand notes
dysfunction of the various parts of
the brain which receive positional
information, including the
cerebellum, thalamus, and parietal
lobes.
Sensory ataxia presents itself with an
unsteady "stomping" gait with
heavy heel strikes, as well as a
postural instability that is usually
worsened when the lack of
proprioceptive input cannot be
compensated for by visual input,
such as in poorly lit environments.
Physicians can find evidence of
sensory ataxia during physical
examination by having the patient
stand with his/her feet together
and eyes shut. This will cause the
instability to worsen markedly,
producing wide oscillations and
possibly a fall in affected patients.
This is called a positive Romberg's
test. Worsening of the finger-
pointing test with the eyes closed is
another feature of sensory ataxia.
Also, when the patient is standing
with arms and hands extended
toward the physician, if the eyes are
closed, the patient's finger will tend
to "fall down" and then be restored
to the horizontal extended position
by sudden muscular contractions.
(3) Vestibular Ataxia
The term vestibular ataxia is
employed to indicate ataxia due to
dysfunction of the vestibular
system, which in acute and
unilateral cases is associated with
prominent vertigo, nausea and vo
miting. In slow-onset, chronic
bilateral cases of vestibular
dysfunction, these characteristic
manifestations may be absent,
and dysequilibrium may be the
sole presentation.
Causes
The three types of ataxia have
overlapping causes, and therefore can either
coexist or occur in isolation. It‘s focal
lesions, exogenous substances, radiation
poisoning, vitamin B12 deficiency, causes
of insolated sensory ataxia, non-hereditary
cerebellar degeneration, heredibary ataxias,
arnold-Chiari malformation and Wilson‘s
Disease.
(1)Focal Lesions
Any type of focal lesion of
the central nervous system (such
as stroke, brain tumour, multiple
sclerosis) will cause the type of
ataxia corresponding to the site of
the lesion: cerebellar if in the
cerebellum, sensory if in the
dorsal spinal cord (and rarely in
the thalamus or parietal lobe), and
vestibular if in the vestibular
system (including the vestibular
areas of the cerebral cortex).
(2)Exogenous Substances
Exogenous substances that cause
ataxia mainly do so because they
have a depressant effect on
central nervous system function.
71 Pediatric conditions Hand notes
The most common example
is ethanol, which is capable of
causing reversible cerebellar and
vestibular ataxia. Other examples
include various prescription drugs
(e.g. most antiepileptic
drugs have cerebellar ataxia as a
possible adverse effect), Lithium
level over
1.5mEq/L, cannabis ingestion and
various other recreational drugs
(e.g. ketamine, PCP or dextromet
horphan, all of which are NMDA
receptor antagonists that produce
a dissociative state at high doses).
Exposure to high levels
of methylmercury, through
consumption of fish with high
mercury concentrations, is also a
known cause of ataxia and other
neurological disorders.
(3)Radiation Poisoning
Ataxia can be induced as a result
of severe acute radiation
poisoning with an absorbed dose
of more than 30 Grays.
(4)Vitamin B12 Deficiency
Vitamin B12 deficiency may
cause, among several
neurological abnormalities,
overlapping cerebellar and
sensory ataxia.
(5)Causes of isolated Sensory Ataxia
Peripheral neuropathies may
cause generalised or localised
sensory ataxia (e.g. a limb only)
depending on the extent of the
neuropathic involvement. When
they involve the dorsal columns,
spinal disorders of various types
may cause sensory ataxia from
the lesioned level below.
(6)Non-Hereditary Cerebellar
Degeneration
Cerebellar degeneration include
chronic ethanol
abuse, paraneoplastic cerebellar
degeneration, high altitude
cerebral oedema, coeliac
disease, normal pressure
hydrocephalusand cerebellitis is
caused of non-hereditary.
(7)Hereditary Ataxias
Ataxia may depend
on hereditary disorders consisting
of degeneration of the cerebellum
and/or of the spine; most cases
feature both to some extent, and
therefore present with
overlapping cerebellar and
sensory ataxia, even though one is
often more evident than the other.
Hereditary disorders causing
ataxia include autosomal
dominant ones such
as spinocerebellar ataxia, episodic
ataxia,
anddentatorubropallidoluysian
atrophy, as well as autosomal
recessive disorders such
as Friedreich's ataxia (sensory and
72 Pediatric conditions Hand notes
cerebellar, with the former
predominating) and Niemann
Pick disease, ataxia-
telangiectasia (sensory and
cerebellar, with the latter
predominating),
and abetalipoproteinaemia. An
example of X-linked ataxic
condition is the rare fragile X-
associated tremor/ataxia
syndrome.
(8)Arnold-Chiari Malformation
Arnold-Chiari malformation is a
malformation of the brain. It
consists of a downward
displacement of the cerebellar
tonsils and the medulla through
the foramen magnum, sometimes
causinghydrocephalus as a result
of obstruction of cerebrospinal
fluid outflow.
(9)Wilson’s Disease
Wilson's Disease is an autosomal-
recessive gene disorder whereby
an alteration of the ATP7B gene
results in an inability to properly
excrete copper from the
body. Copper accumulates in the
nervous system and liver and can
cause ataxia as well as
other neurological and organ
impairments.
Clinical Presentation
Symptoms vary depending on the type of
ataxia but include early problems with
unsteadiness and clumsiness, which in early
onset types usually start between the ages of
4 and 16. In late-onset types of ataxia - as
the result of alcoholism, for example -
symptoms usually begin after the age of 20.
Ataxia can develop over time or come on
suddenly, depending on the cause.
Symptoms may remain mild or worsen as
the ataxia progresses.Ataxia, may cause:
Coordination is poor
A tendency to stumble and unsteady walk
Difficulty with fine-motor tasks, such as
eating, writing or buttoning a shirt
Speech, vision and hearing may be affected
Involuntary back-and-forth eye movements
(nystagmus)
Difficulty swallowing
If you aren't aware of having a condition
that causes ataxia, such as multiple sclerosis,
see your doctor if you:
Lose balance
Muscle coordination in a hand, arm or leg is
lost
Have difficulty in walking
Speech is slur
Have difficulty swallowing
73 Pediatric conditions Hand notes
Investigation
Diagnosing ataxia can take a while
because many other conditions can cause
similar symptoms.
Blood tests, MRI scans and genetic tests
may be performed to help confirm diagnosis
when ataxia is suspected
Families affected by ataxia may be offered
blood tests to see if individuals are carriers.
Antenatal screening is also available for
some types of ataxia.
The following questions should be ask:
1. Is there vertigo, tinnitus, or
deafness?
Any one of these three signs and
symptoms should suggest Ménière's
disease or other labyrinthine disease
as well as eighth nerve pathology.
2. Are there headaches, nystagmus, or
papilledema?
These signs should suggest a
cerebellar tumor or acoustic
neuroma.
3. Are there other neurologic signs?
If there are long tract signs such as
hyperactive reflexes and loss of
vibratory or position sense, one
should consider multiple sclerosis,
pernicious anemia, or basilar artery
insufficiency. If there are glove and
stocking hypoesthesia and
hypoactive reflexes, one should
consider peripheral neuropathy or
tabes dorsalis.
4. Is the ataxia worse in the dark?
This is a sign that the dorsal column
or peripheral nerve is affected, and
one should look for peripheral
neuropathy, pernicious anemia,
multiple sclerosis, and Friedreich's
ataxia. One should also look for
tabes dorsalis.
5. Is there a secondary gain?
Hysterical patients and patients who
are malingering will often show a
completely normal neurologic
examination, but be unable to walk
or stand without staggering. The
author has been particularly
impressed with patients applying for
long-term disability who stagger a
great deal without support, but as
soon as support in the form of a cane
is given, their ataxia completely
clears up.
Diagnostic
The wise clinician should consider a
neurologic referral at the outset. An
audiogram and caloric testing should be
done if there is vertigo, tinnitus, or deafness.
Then, a CT scan or MRI of the brain should
be done if these suggest eighth nerve
damage. Headaches, sustained nystagmus,
or papilledema are other indications for a
CT scan or MRI. If multiple sclerosis is
suspected, MRI of the brain is very useful,
74 Pediatric conditions Hand notes
as well as spinal fluid for gamma globulin
and myelin basic protein. Perhaps VEP,
brain stem evoked potential (BSEP), or
SSEP studies should be done.
Magnetic resonance angiography will allow
assessment of the vertebral-basilar arteries if
vascular disease is suspected. If this is not
available, four-vessel cerebral angiography
may be utilized. Patients with hypoactive
reflexes and glove and stocking
hypoesthesia and hypalgesia will need a
neuropathy workup. Referral to a
psychologist for psychometric testing should
be done when there is ataxia in the presence
of a normal neurologic examination.
Medical Management
The medical management of
ataxia and its effectiveness
depend on the underlying cause
may limit or reduce the effects of
ataxia, but it is unlikely to
eliminate them entirely. Recovery
tends to be better in individuals
with a single focal injury (such
as stroke or a benign tumour),
compared to those who have a
neurological degenerative
condition. A review of the
management of degenerative
ataxia was published in 2009.
The movement disorders
associated with ataxia can be
managed by pharmacological
medical managements and
through physical
therapy and occupational
therapy to reduce disability. Some
drug medical managements that
have been used to control ataxia
include: 5-hydroxytryptophan (5-
HTP), idebenone, amantadine,
physostigmine, L-carnitine or
derivatives, trimethoprim–
sulfamethoxazole, vigabatrin,
phosphatidylcholine,
acetazolamide, 4-aminopyridine,
buspirone, and a combined
coenzyme Q10 and vitamin E
antioxidant therapy. For
retraining specific functional
motor patterns, physical
therapy requires a focus on
adapting activity and
facilitating motor learning. The
large components of therapy is
gait, coordination, and balance
training. Training will likely need
to be intense and focused, as
indicated by one study performed
with stroke patients experiencing
limb ataxia who underwent
intensive upper limb
training. Their therapy consisted
of constraint-induced movement
therapy which resulted in
improvements of their arm
function. Medical management
will likely include strategies to
manage difficulties with everyday
activities such as walking. Gait
aids (such as a cane or walker)
can be provided to decrease the
risk of falls associated with a
balance impairment or poor
coordination. Severe ataxia may
eventually call for the use of a
wheelchair.
A possible coexisting motor
deficit need to be addressed in
75 Pediatric conditions Hand notes
addition to those induced by
ataxia, in order to obtain better
results; for example muscle
weakness and decreased
endurance which would lead to
increasing fatigue and poorer
movement patterns.
Tics Disoder
Definition
According to Philip Barker (1971), tics,
sometime known as habit spasm, are
repetitive, sudden movement of muscles or
groups of muscles, not under voluntary
control and serving no obvious purpose.
They more often affect the muscles of the
face, and eye-blinking tics are common.
Various facial contortions may occur and
muscle groups in other parts of the body
may be affected. The head and neck may be
suddenly and briefly moved in one direction
or contorted. They may be similar
movement of trunk and limbs. The same
movements tend to occur repeatedly, in
severe cases scores or hundreds of times
daily. Tics, especially when they involve
large movements of trunk or limbs, can be
seriously handicapping.
Some with Tourette‘s syndrome will
describe a need to complete a tic in a certain
way or a certain number of times in order to
relieve the urge or decrease the sensation.
Tics are often worse with excitement or
anxiety and better during calm, focused
activities. Certain physical experiences can
trigger or worsen tics, for example tight
collars may trigger neck tics, or hearing
another person sniff or throat-clear may
trigger similar sounds. Tics do not go away
during sleep but are often significantly
diminished.
76 Pediatric conditions Hand notes
Types
Tics are divided into two that are by
complexity and by number of tics and
duration.
Tics by complexity are also divided into two
that are simple tic and complex tic.
Simple tic are sudden, short, repetitive
movements that involve a limited number of
muscle groups. Simple motor tics include
eye blinking, vision irregularity, facial
grimace, shoulder shrugging and head or
shoulder jerk. Simple vocal tics are
repetitive throat-clearing and sniffing or
grunt sounds.
Complex tic are different, coordinated
pattern of movement involve several muscle
groups. Complex motor tics include facial
grimace combined with head twist and
shoulder shrug, appear purposeful, sniffing
or touching objects, hopping, jumping,
bending or twisting. Complex vocal tics
include words or phrases.
Tics by number of tics and duration are
divided into transient tics condition and
chronic tics condition.
Transient tics condition presents less than
one year and do not happen again. The child
is benign and does not requires treatment.
Chronic tics condition present more than a
year. There is a history of a number of tics
that have been present. Chronic motor tic is
the individual has one or several motor tics
(no vocal tics) on and off for more than one
year. Chronic vocal tics has been one or
more vocal tics (no motor tics) on and off
for more than a year.
Causes
Experts do not know the exact cause of tics,
but some research points to changes in the
brain and problems with how nerve cells
communicate. Research is ongoing and it is
believed that an abnormal metabolism of the
neurotransmitters dopamine and serotonin ,
the chemicals in the brain that carry nerve
signals from cell to cell are involved with
the disorder. It is genetically transmitted
with parents having a 50% chance of
passing the gene on to their children. Girls
with the gene have a 70% chance of
displaying symptoms while boys with the
gene have a 99% chance of displaying
symptoms.
Clinical Presentation
Both multiple motor and one or more
vocal tics have been present at some
time during the illness.
The tics occur many times a day,
nearly every day, or occasionally
throughout a period of more than 1
year
The anatomic location, number,
frequency, complexity, type, or
severity of tics changes over time
Tics have their onset (vigorous
beginning) before age 21 years
People with Tourette‘s Syndrome are
more likely to have any combination
of the following problems:
77 Pediatric conditions Hand notes
Attention-Deficit/Hyperactivity
Disorder (ADHD)
Difficulties with Impulse Control
Obsessive-Compulsive Disorder
(OCD)-obsession thought (describe
unwanted disturbing or often
nonsensical worries)
Various Learning Disabilities (such
as dyslexia)
Various Sleep Disorders
Investigation
A screening neurologic examination should
be conducted that includes assessment of
coordination, motor overflow, strength,
reflexes, tone, balance, and untoward motor
movement. A mental status examination
should focus on mood, affect, language,
intelligence, cognitive processes, thought
content, attention, orientation, insight, and
judgment.
Tics do not warrant to routine serum
screening, neuroimaging, or electrical
studies unless secondary tics or differential
concerns are raised by history or
examination.
To be diagnosed with Tourette‘s syndrome,
observe that a person must have several
different types of tics that are specifically,
multiple motor tics and at least one vocal tic.
Begin by asking the parents:
How long the child has had the tic?
How often he experiences it?
Can they identify any precipitating
or pain factors?
Can the patient control the tics with
conscious effort?
Does the child have any stress in his
life such as difficult school work?
Next, carefully observe the tic. Is it a
purposeful or involuntary
movement? Note whether it‘s
localized or generalized, and
describe it in detail.
Medical Management
In managing these children, a
supportive attitude from the parent
and the community are important to
relief of any stress the child may be
experiencing. Any apparent causes
of anxiety should be removed and
co-existing psychiatric problems
should receive the appropriate
treatment.
Although many treatments have been
suggested for tics disorders including
individual psychotherapy and
behavior therapy, treatment with
certain drugs seems to be most
effective. The mainstays of drug
therapy have been the antipsychotic
drugs haloperidol and pimozide.
Clonidine, a drug primarily used to
control hyperextension, is sometimes
effective in controlling tics, though
usually less so than haloperidol and
pimozide. These drugs are only use
to manage tics and cannot cure tics.
Occupational therapy referral is
helpful if the child has prominent
78 Pediatric conditions Hand notes
handwriting deficits, sensory
defensiveness, or late gross motor
development.
Conclusion
A comprehensive physical examination
should be part of the evaluation of tics,
especially in young children with
communication difficulties. More
controlled, independent studies are needed
to establish the treatment of children with
ADHD and comorbid tic disorder or
Tournette‘s Syndrome. A review of the
literature on tic classification and the
available instruments to rate tic severity
suggests the need for developing a better
classification profile and more adequate
rating instruments.
Children with tic disorders present clinical
challenges that require a combined approach
of patient and family education, behavioral
therapies, and medical intervention.
Successful outcomes depend on attention to
associate and set realistic goals for the
family and clinician. These disorders
obviously bridge neurology and the
behavioral sciences, discouragement the
artificial split of brain and mind while
encouraging an integrated conceptualization
and treatment approach.
References:
1) Keith Cheng and Kathleen M.
Myers, Child and Adolescent
Psychiatry The Essential : 9 (151-
168)
2) Michael Rutter and Eric Taylor,
Child and Adolescent Psychiatry
Fourth Edition: 36 (593-606)
3) Philip Borker, Basic Child
Psychiatry Sixth Edition : 15 (187-
190)
4) http://emedicine.medscape.com/articl
e/1182258-clinical
5) http://tourette13.tripod.com/
6) http://www.ninds.nih.gov/disorders/t
ourette/detail_tourette.htm
7) http://www.cnsspectrums.com/aspx/a
rticledetail.aspx?articleid=1725
8) http://www.wrongdiagnosis.com/t/tic
s/book-diseases-
8c.htm?ktrack=kcplink
79 Pediatric conditions Hand notes
Corticobasal degeneration
Introduction
In 1968, Rebeiz and his associates
was the first identified Corticobasal
Degeneration (CBD)
Three individuals who shows
different characteristic symptomps
and unknown disorder being
observed by them.
Corticobasal degeneration(CBD)
refered to the neurodegenerative
disease and known as few names :
Corticobasal degeneration with
neuronal achromasia
Corticonigral degeneration with
nuclear achromasia
Corticobasal ganglionic degeneration
(CBGD)
Corticobasal degeneration (CBD)
cause damage to the basal ganglia.
Corticobasal degeneration (CBD)
also related to the movement
disorder disease.
Although the specific cause of
corticobasal degeneration (CBD) is
unknown, the damage of basal
ganglia part occurs as a result of this
disease.
Neuronal degeneration of
dipigmentation (loss of melanin in a
neuron)
In subtantia nigra.
Definition
Corticobasal degeneration (CBD) is
a rare neurological disorder that
associated with progressive brain
degeneration.
Corticobasal degeneration (CBD)
also known as corticobasal
ganglionic degeneration (CBGD)‘.
Corticobasal degeneration leads to
loss of brain tissue and atrophy
(shrinkage) of multiple areas of the
brain including the cerebral cortex
and basal ganglia.
Especially the area in the upper and
front section of the brain.
80 Pediatric conditions Hand notes
Types
Predominant movement disorders
and cortical dysfunctions associated
with corticobasal degeneration
(CBD) may include :
Parkinsonism
Alien hand syndrome
Apraxia ( Ideomotor
Apraxia and Link
Apraxia)
Aphasia
PARKINSONISM!!!
► complications in development.
► parkinsonism in cbd most present in
an extremity such as arm and it always
asymmetric.
► commonly involve movement
dysfunction which are gait disorder, rigidity,
bradykinesia.
► most typical manifestation of
parkinsonism in cbd is limb rigidity.
► leads to disruptions in gait and related
movements.
ALIEN HAND SYNDROME!!!
► An individual cannot able to control
the movements of his or her hand because of
the sensation that the limb is ―foreign‖.
► Movement of the alien limb reacts to
yhe external stimuli and do not occur
sporadically or without stimulation.
APRAXIA / IDEOMOTOR APRAXIA
(IMA)!!!
► Inability to repeat or mimic particular
movements with or without implementation
of objects.
► Can be presented in hands and arms.
► Cause difficulties and trumbling in
maintaining balances.
APHASIA!!!
► As the disease progress, the individual
loss the ability to speak.
► Facing difficulties in initiating
spoken dialogue and also falls under the
non- fluent (as opposed to fluent or flowing)
disorder.
Causes
Related causes of Corticobasal degeneration
(CBD) included :
Subarachnoid hemorrhage Bleeding in the subarachnoid area of
the brain because of the rupture of a
blood vessel
Area : space between brain and the
skull.
Subdural hematonia
81 Pediatric conditions Hand notes
Collection of blood underneath the
duro mater, the tough outer layer of
the meninges, the membrane that
surround the brain and also spinal
cord
Introcerebral hematoma
Electrolyte abnormalities
Diabetic cana Unconsciousness, state as a
complication of diabetes mellitus
Hepatic encephalopathy
Cause by marked liver disease that
results in disruptions of consciousness.
Renal failure A condition of life- threatening in
which there is a build up of waste
and fluid in the body due to sever
deferloration of kidney failure.
Cerebral metastases The spread of a neoplasm from a
primary site to the brain
Hypoxic encephalopathy
Complication
There are several complications associated
with corticobasal degeneration (CBD)
disease:
Chronic brain failure
Myoclonus
Parkinsonism
Prevalence
Only 500-700 are diagnosed from suffer
corticobasal degeneration (CBD) disease
from 2000-3000 people.
Clinical Presentation
A set of standard diagnostic criteria
can be used which is centered on the
desease‘s development because
corticobasal degeneration (CBD) is
progressive.
Psychiatric and cognitive
dysfunctions although occur in
corticobasal degeneration (CBD) ,
but they are less prevalent and
slightly lack establishment as
common criteria of the presence of
the disease.
Sign and symptoms
Gradual loss of brain tissue and
symptoms usually begin between ages early
45 and 70
The initial symptoms includes :
Stiffness
Jerkiness
Shakiness
Slowness
Clumsiness in movement
(upper / lower extremity)
Difficulty with articulation /
calculation (dysarthria)
Symptoms occurring on one
side of the body first then
gradually moving to the other
side.
Other symptoms include :
Balance → difficulty in
walking and balancing
Memory → having problems
in short-terms memory such
as repeating questions or
misplacing objects.
82 Pediatric conditions Hand notes
Muscle control → difficult to
control muscles of the face
and mouth.
Speech → difficult in order
to speaking and difficulty of
comprehension language.
Individuals with having corticobasal
degeneration(CBD) disease may having
difficulties in completing several specific
task :
Opening a door
Brushing one‘s teeth
Using tools such as
can opener
Example :
A patient may have
difficulties with complex
movements like dancing
when a leg is affected. As
the disease continues
progresses, the patient
may started to trip and
fall. Besides, he/ she may
experience uncontrollable
movement of arm or leg.
Investigation
A comprehensive neurological exam
involves combination of one or more types
of laboratoty evaluations :
COMPUTERIZED TOMOGRAPHY (CT
SCAN)
#uses a series of x-rays to create a
details three- dimensional image of
brain.
# detect abnormalities / changes in
the brain.
Magnetic Resonance Imaging (MRI)
- uses powerful radio waves and
magnets to create a details three-
dimensional image of brain.
- to detect abnormalities/ changes
in the brain
Mental status and neuropsychological test
- some questions will be ask such as
emotional state and daily routines
and conduct tests to measure
thinking skills (cognitive skills)
- psychiatric assessment to test
behavior changes of patients,
depression or other mental illness
that occur.
Position emission tomography
- doctors will injects the patients with
a small amount of radioactive
material
- emission defectors been placed on
the patients brain..
- PET provides visual images of the
brain act.
- SPECT measures the following of
blood to various regions of the brain
Medical Management – Treatments
Corticobasal degeneration can‘t be cured
and being slow down, but doctors can help
manage the patients conditions.
Individual that having symptoms are
provided with specific therapy or
medications.
83 Pediatric conditions Hand notes
Example:
> The treatment for Parkinson‘s
Disease may partially respond to the
rigidity and difficulty in walking.
The treatment are :
Muscle relaxants or anti-
seizure medication -for muscle contractions and
twitching
Depressions or treatments
for Alzheimer’s disease -suitable for individual that
have memory and behaviour
problems
Surgical
Medications
> levodopa
# medications that usually
used to treat Parkinson‘s
disease.
# It usually less effective for
people with CBD, but for
certain people, it may provide
moderate, short-term
improvement in muscle
rigidity and stiffness.
# Increase the levels of
brain chemical called
dopamine by transmitting
messages from brain (control
and coordinate body‘s
movement).
# Then, dopamine levels
increase and causes a
corresponding improvement
in muscle tone.
Common side effects of levodofa :
- Nausea
- indigestion
- involuntary, physical movements,
such as jerking
- mood changes- for example,feeling
more anxious
- drowsiness
Baclofen
Can be used to treat muscle rigidity and
stiffness. Blocking some of the nerve signals
that cause muscle stiffness.
Side effects of baclofen :
- dizziness
- drowsiness
- constipation
- diarrhoea
- headache
- an increased need to urinate
Colazepam
can be used to treat symptoms of muscle
spams
Side effect of clonazepam :
- Fatigue
- muscles weakness
- loss of co-ordination
- light- headedness
Conclusion
As the conclusion, Corticobasal
degeneration (CBD) or Corticobasal
Ganglion Degeneration (CBGD) is one type
of disease that commonly associated with
the movement disorder and also cognitive
disorder. This disease can be considered as
the most seriously disease as it cannot be
ascertained be cured.CBD is a progressive
condition,that means the initial symptoms
will become more severe over time and that
new symptoms may develop. Symptoms
84 Pediatric conditions Hand notes
progress can vary widely between
individuals, but after the onset of the
symptoms,people typically live for around
eight years. People who suffer from this
problem are very vulnerable for developing
other complications such as pneumonia,
which can lead to fatal.Even research into
treatments for CBD is ongoing,but yet there
still no current treatment. Hence, treatment
for CBD just focused on relieving the
symptoms, and ensuring the person with the
condition by the best possible quality of this
meaningful life.
References
Internets :
http://en.wikipedia.org/wiki/Corticob
asal_degeneration
http://www.nhs.uk/Conditions/Cortic
obasal-
degeneration/Pages/Treatment.aspx
http://www.mayoclinic.org/corticoba
sal-degeneration/
http://www.ninds.nih.gov/disorders/c
orticobasal_degeneration/corticobasa
l_degeneration.htm
Reference book:
William W. HAY, JR, Professor,
Department of Pediatrics – Current
Diagnosis and Treatment in
Pediatrics, eighteen edition
85 Pediatric conditions Hand notes
Dyskinesis
Definition
Dyskinesis is synonym to dyskinesia.
Dyskinesia is a movement disorder which
consists of effects including diminished
voluntary movements and the presence of
involuntary movements, similar to tics or
choreia.
Dyskinesia can be anything from a
slight tremor of the hands to
uncontrollable movement of, most
commonly, the upper body but can
also be seen in lower extremities.
Discoordiation can also occur
internally especially with the
respiratory muscles and it often goes
unrecognised.
Dyskinesia is a symptom of several
medical disorders and is
distinguished by the underlying
cause.
Medical Management
Some authors suggest that the precipitating
factor preceding episodes of paroxysmal
dyskinesia is the most significant component
in determining the course of the disease, the
underlying disease mechanism (see
"Pathophysiology"), and response to
treatment. The duration of episodes also
appears to have some effect on the disease
course and treatment response.
Paroxysmal kinesigenic dyskinesia
(PKD):-
-In many patients with idiopathic
paroxysmal kinesigenic dyskinesia
(PKD), episodes tend to lessen with
age. In addition, the attacks may
sometimes spontaneously disappear
over time (remission). PKD responds
well to therapy with various
anticonvulsant medications.
-For example, the anticonvulsant
agent phenytoin (Dilantin), formerly
known as diphenylhydantoin, was
one of the first medications
recognized as an effective therapy
for PKD. Reports indicate that
patients may also benefit from
treatment with the anticonvulsants
phenobarbital, primidone
(Mysoline), valproic acid
(Depakene), or the benzodiazepine
clonazepam (Klonopin®).
-In addition, carbamazepine
(Tegretol), another anticonvulsant
agent, has been found particularly
effective in most PKD patients.
Some patients may also benefit from
acetazolamide, which is a carbonic
anhydrase inhibitor; combination
therapy with acetazolamide and
carbamazepine; or treatment with
tetrabenazine (Nitoman, Xenazine), a
monoamine-depleting agent.
Although therapy with the dopamine
precursor levodopa (L-dopa) has
been effective for some PKD
patients, others have not received
benefit from such therapy.
Paroxysmal non-kinesigenic dyskinesia
(PNKD):-
The non-kinesigenic episodes of
idiopathic PNKD may also decrease
in frequency and intensity over time
in some patients. Unlike PKD,
PNKD usually does not respond to
anticonvulsant therapy. Yet, in some
cases, patients may benefit from
treatment with certain
anticonvulsants, such as clonazepam,
86 Pediatric conditions Hand notes
valproic acid or phenobarbital.
Indeed, clonazepam (Klonopin®) is
often considered the medication of
choice for PNKD. Benzodiazepines,
a class of medications that act on the
central nervous system, may be
helpful in relaxing muscles, relieving
anxiety, or promoting sleep.
Other benzodiazepines also may
have some effectiveness in PNKD,
such as oxazepam (Serax®) or
diazepam (Valium®). Other agents
occasionally found effective for
some patients include benztropin
(Cogentin®), possibly in
combination with phenytoin;
acetazolamide; carbamazepine;
chlordiazepoxide; trihexyphenidyl;
dopamine depleting drugs (e.g.,
tetrabenazine) or dopamine receptor
antagonists (e.g., haloperidol).
However, it is important to note that
some patients report an exacerbation
of symptoms when treated with
antidopaminergic drugs.
In addition, whereas therapy with the
dopamine precursor L-dopa has been
reported to aggravate symptoms,
some patients have received
moderate benefit from such
treatment. Some researchers suggest
that patients with long-lasting PNKD
episodes may tend to have an
increased response to medication
than those with short-lasting attacks.
In addition, in some patients with
symptomatic PNKD, administration
of appropriate therapies to manage
an underlying condition, such as
certain endocrine disorders (e.g.,
diabetes or idiopathic
hypoparathyroidism), may alleviate
non-kinesigenic episodes.
Paroxysmal exertion-induced
dyskinesia (PED)
-In some patients with familial PED,
the attacks spontaneously remit;
others may improve with certain
benzodiazepines, such as
clonazepam and the anticonvulsant
agent carbamazepine.
-Most patients, however, obtain no
benefit from treatment with
clonazepam, anticonvulsants, or
other attempted therapies (e.g.,
levodopa, trihexyphenidyl,
barbiturates).
-Most patients with short-lasting
PHD episodes benefit from
carbamazepine. In some cases, other
anticonvulsants may also be
effective, such as phenytoin
(Dilantin®) or combination therapy
with phenytoin and phenobarbital.
o -In contrast, according to
reports in the medical
literature, those patients with
long-lasting nocturnal attacks
did not respond to
anticonvulsant therapy, nor
were administration of
benzodiazepines or certain
antipsychotic agents
(phenothiazines) effective.
o -However, a patient with
long-lasting PHD secondary
to head trauma had an
effective response to therapy
with the carbonic anhydrase
inhibitor acetazolamide.
o In addition to medical
therapy, surgical
interventions such as chronic
thalamic stimulation, are
being explored as potential
therapies in patients with
medically intractable
paroxysmal dyskinesias
87 Pediatric conditions Hand notes
Types
Paroxysmal kinesigenic Dyskinesia
more appropriate since the episodes
are often not witnessed and therefore
the movement disorder cannot be
classified into choreic, athetotic,
ballistic, or dystonic. In many patients
with PKD,
Paroxysmal kinesigenic dyskinesia or
(PKD) is on of the type in dyskinesis.
PKD is sudden attacks of involuntary
movements, including dystonia,
chorea, athetosis, or ballism
precipitated by sudden movement
[kertesz,1967]. The characteristic of
this type of dyskinesia is, the
symptom most commonly occurs
when a patient stand up quickly or
startle. For example the ‗ringing bell‘.
Hyperventilation or prolonged
physical exercise may also trigger the
attact. Many patient experience an
‗aura‘ like sensation.
Symptom usually manifested
unilaterally, but may alternate or even
be bilateral.
Limbs are more commonly involved
,but neck, face, and trunk may also
affected.
Males are more commonly affected
than females with ratio of 3.75:1
[farh,1994)
Mostly, PKDs are idiopathic, and in
the majority, there is a family history
of autosomal dominant inheritance
with penetrance > 70%. Sporadic
cases are reported frequently
[Jankovic and Demirkiran, 2002].
Paroxysmal Nonkinesigenic Dyskinesia
(PNKD)
Paroxysmal Nonkinesigenic
Dyskinesia (PNKD) is an episodic
movement disorder first described
by Mount and Reback in 1940 under
the name "Familial paroxysmal
choreoathetosis".
It is a rare hereditary disease that is
affects various muscular and nervous
systems in the body, passing to
roughly 50% of the offspring.
Paroxysmal exercise-induced
dystonia (PED)
Paroxysmal exercise-induced
dystonia (PED) is another one types
of dyskinesis. It is a rare, typically
idiopathic familial condition,
although sporadic and secondary
cases have been reported.
It is because the number of reported
cases that have been reported by
people with PED is very small
leading to difficulty in studying and
classifying this disease and most
studies are limited to a very small
number of test subjects.
Paroxysmal exercise-induced
dystonia or PED is a rare
neurological disorder characterized
by sudden, transient, involuntary
movements, often including repetitive
twisting motions and painful
posturing triggered by exercise or
other physical exertion.
biliary dyskinesia
derangement of the filling and
emptying mechanism of the
gallbladder.
dyskinesia intermit´tens
intermittent disability of the limbs
due to impaired circulation.
tardive dyskinesia
- an iatrogenic disorder of involuntary
88 Pediatric conditions Hand notes
repetitive movements of facial,
buccal, oral, and cervical muscles,
induced by long-term use of
antipsychotic agents, sometimes
persisting after withdrawal of the
agent.
- tardive dyskinesia is serious side
effect of long-term use of drugs
called neuroleptics. The most
commonly used neuroleptics are older
anti-psychotic drugs, including
Investigation
A diagnosis of paroxysmal kinesigenic, non-
kinesigenic, exertion-induced, or
hypnogenic dyskinesia is based upon a
thorough clinical evaluation including;-
a complete physical and neurologic
assessment
evaluation of characteristic
symptoms with assessment of
episode duration
frequency
"trigger factors" or precipitants
a careful patient and family history.
There is no definitive diagnostic test for
these disorders. Certain blood tests, other
laboratory studies, or neuroimaging or
neurophysiologic studies may be conducted
to eliminate similar disorders and to confirm
or rule out underlying conditions that may
result in secondary (symptomatic)
paroxysmal dyskinesia. Such neuroimaging
or neurophysiologic studies may include
computerized tomography (CT) scanning or
magnetic resonance imaging (MRI) to create
detailed, cross-sectional images of certain
bodily tissues and organs;
electroencephalography (EEG) to detect or
rule out potential seizure activity; or other
techniques, such as specialized sleep studies
(e.g., polysomnograms) in those with
suspected paroxysmal hypnogenic
dyskinesia to help evaluate the occurrence of
nocturnal episodes of involuntary
movement. However, experts indicate that
neuroimaging studies (e.g., CT or MRI)
typically are not helpful in those with
idiopathic (familial or sporadic) paroxysmal
dyskinesia.
The differential diagnosis of idiopathic
paroxysmal kinesigenic dyskinesia (PKD)
includes repeated seizures or epilepsy and
hyperexplexia, also known as startle disease.
Patients with hyperexplexia have an
exaggerated startle response to unexpected
stimuli. These heightened responses may
cause stiffening and falling without loss of
consciousness. Tetany, associated with
hypocalcemia; may rarely mimic
paroxysmal dyskinesias. It is characterized
by muscular twitching and cramping;
spasms at the wrist and ankle joints;
spasmodic closure of the larynx, with an
associated, high-pitched sound upon
inhalation (stridor), and abnormal
involuntary movements resembling chorea.
The diagnosis of idiopathic, particularly
sporadic, paroxysmal non-kinesigenic
dyskinesia (PNKD) may include measures
to help differentiate the condition from
movement disorders in which symptoms
have an emotional rather than an organic
origin (psychogenic disease).
The differential diagnosis of paroxysmal
hypnogenic dyskinesia should also include
various forms of epilepsy. However, EEG
findings may provide evidence of seizure
activity arising from a specific region of the
cerebral cortex.
89 Pediatric conditions Hand notes
Causes
Tardive dyskinesia
Tardive dyskinesia occurs primarily as a
rare, but serious, side effect of neuroleptic
drugs. This drugs are prescribed for the
treatment of psychiatric, gastrointestinal and
neurological disorders. Tardive dyskinesia
usually occurs after months to years of
neuroleptic drug use, but in some cases, it
may begin after only six weeks of use.
Medications known to cause tardive
dyskinesia;-
Chlorpromazine (Thorazine)
Fluphenazine (Prolixin)
Haloperidol (Haldol)
Metoclopramide (Metozolv, Reglan)
Prochlorperazine (Compazine)
Trifluoperazine (Stelazine)
The risk factors for tardive dyskinesia:-
A number of factors increase the risk of
developing tardive dyskinesia. Not all
people with risk factors will get tardive
dyskinesia. Risk factors of tardive
dyskinesia is include:
Advanced age
Female gender
Substance abuse
Use of neuroleptic drugs
Clinical Presentation
Symptom of dyskinesia
Tardive Dystonia
Tardive dystonia is a movement disorder
characterized by muscle contractions and
spasms that cause irregular and
uncomfortable movements and postures.
Tardive dystonia symptoms may vary
among patients and range in intensity
depending upon the severity of the
condition.
The common symptoms of tardive
dystonia;-
Very often, tardive dystonia involves the
muscles of the face, but the movements
caused by the disorder may be more
generalized and include other parts of the
body as well. Symptoms of the disorder are
often characterized according to where they
occur in the body. Common symptoms
include:
Spasmodic torticollis – This
symptom occurs when the muscles
of the neck contract and pull the
head down, causing an abnormal and
uncomfortable posture. This is often
the most painful type of tardive
dystonia movement.
Blepharospasm – This symptom
affects the muscles that control
eyelid contractions and is
characterized by movements that
appear as prolonged blinking.
Blepharospasm can result in vision
problems and the inability to perform
many everyday tasks, including
reading or driving.
Diurnal bruxism – This symptom
results in rhythmic, forceful
contractions of the jaw muscles and
causes teeth grinding while awake
(but not while sleeping). Diurnal
bruxism can result in severe pain and
significant tooth damage.
Dysphonia – Dysphonia affects the
muscles involved in breathing and
speaking. Patients experiencing
dysphonia often speak with a
strangled and raspy voice and can
sound as if they are out of breath.
90 Pediatric conditions Hand notes
Ballismus – Ballismus causes the
arms or legs to involuntarily jut out
from the body. Some individuals
with this form of dystonia note that
their movements are sometimes
mistaken for aggression.
Diagnosis
Symptoms of tardive dystonia can appear
gradually, so it may not be immediately
apparent that victims are dealing with a
serious movement disorder. This, along with
other factors, often makes it difficult to
diagnose tardive dystonia and related
movement disorders.
There is no one test that can determine if a
patient has the disorder; instead, doctors
must carefully watch the movements at
various intervals to determine whether or not
they are involuntary and whether they
worsen or improve over time.
Individuals who suspect they have tardive
dystonia should keep a diary of their
symptoms, noting the location and severity
of the movements, as well as how often they
occur.
Tardive Dyskinesia Symptoms
There has been little research on the
movement disorder known as tardive
dyskinesia (TD), which affects
approximately 20 percent of patients who
have been treated for certain psychoses with
medications known as dopamine
antagonists. The symptoms of tardive
dyskinesia are a side effect of medications
that are targeted at the specific dopamine
receptor involved in emotion and lower
cognitive function. These medications,
including metoclopramide (commonly
known as Reglan, Deglan and Maxolon to
name a few), wind up affecting the function
of voluntary muscle control.
Diagnosing Tardive Dyskinesia
Part of the difficulty in diagnosing
tardive dyskinesia lies in the fact that
symptoms are similar to other types
of disorders, including Tourette's
syndrome. One variety of tardive
dyskinesia, known as tardive
tourettism, is so similar that only
careful study of the circumstances
surrounding the onset of the disorder
can determine which condition is
actually present.
Other similar disorders include
tardive dystonia, akathisia and
myoclonus. The first differs from
other types of dystonia (muscle
spasms and uncontrollable
movements in the torso) in that the
tardive variety is permanent and is
drug-related as opposed to being
caused by genetics, injury, infection
or environmental toxins.
Akathisia is more internalized and
accompanied by inner anxiety. It is
also more generalized, involving the
entire body. Myoclonus manifests
itself most often as brief, jerky
contractions of a particular muscle
group. However, the term actually
refers to a symptom that may be the
result of any number of neurological
disorders. In most cases, a
differential diagnosis is required in
order to determine what strain of
tardive dyskinesia is present.
Characteristic Symptoms
Regardless of the variety of the disease,
tardive dyskinesia is characterized by
sudden, uncontrollable movements of
voluntary muscle groups. Signs of classic
tardive dyskinesia normally consist;-
91 Pediatric conditions Hand notes
Coordinated- experience movement
in the limbs and digits. Interestingly,
these involuntary movements are
more pronounced when the patient
attempts to relax.
constant movements of the mouth
Tongue- suddenly move about in a
squirming, twisting manner. In
extreme cases, the tongue may move
well over 60 times a minute.
jaw and cheeks- patient will move
ther jaw up and down, for example
as if chewing.
Repeated lip smacking and puffing
of the cheeks may also be present.
Severity of the condition is indicated
by the frequency of these movements
or spasms. Any emotional arousal or
agitation tends to cause these
movements to decrease. Symptoms
may disappear completely when the
patient is asleep.
Tardive Dyskinesia Risk Factors &
Treatments
There is no cure for tardive dyskinesia
although the condition can be managed in
some cases. Those who are at an increased
risk for developing tardive dyskinesia are
those who have been treated with dopamine
antagonists for four years or longer;
according to a study from the Yale
University School of Medicine. Risk factors
can also be aggravated by the use of alcohol
and tobacco. Post menopausal women are
also at greater risk because of lower
estrogen levels.
References
Sources:
National Institute of Neurological
Disorders and Stroke,
http://www.ninds.nih.gov/disorders/d
ystonias/dystonias.htm
http://www.wikipedia.com
http://www.medplus.com
http://www.wemove.com
92 Pediatric conditions Hand notes
Dystonia
Introduction
There is surgical therapy which was
first used for the treatment of dystonia. It is
used over 300 years ago when Isaac minnius
find out problem at one of the neck muscles
in a patient with cervical dystonia in 1641.
At that time, there was problem of
identifying the part of the brain that was
affected. The surgical therapy is being
practice to the patient and the report was
unfortunately mixed with some surgical
centers reporting great successes while
others reported makes failures, with mixed
result often occurring even within the same
center. Advances in medical technology
have helped to create the appropriate therapy
with the syndrome of this problem.
Result from this medical technology
by increasing the improvement of the
consistency of the treatment. The result lead
to the development of brain pacemaker
technology called deep brain stimulation or
DBS.
Definition:
Dystonia syndrome is a movement
disorder that causes the muscles to
involuntarily contract, jerk or spasm.
These involuntary muscle contractions may
also result in forced repetitive and twisting
movements or awkward, unnatural postures
(Elizabeth Quinn, 2009). These muscle
contraction also occur because of the
abnormalities functioning of the brain. It can
be experienced by children and adults. In
this topics, we are discussing about dystonia
syndrome in children.
Type, clinical presentation and medical
management of dystonia syndrome
As we know, dystonia is the sustained
of muscle contraction which cause the
twisting or repetitive movement. Two most
important type of dystonia are primary
(idiopathic) and secondary dystonia.
Primary Dystonia
The most important types of primary
dystonia in children are dopa-responsive
dystonia (DRD) and idiopathic torsion
dystonia (generalized dystonia) related with
the DYT1 mutation. Other type of primary
dystonia is, myoclonus dystonia.
Causes
Genetic mutation or
Unknown
The factor related to the primary
dystonia is either there is a specific genetic
mutation combined with environmental
conditions or is unknown. Primary dystonia
is suspected to be caused by a pathology of
the central nervous system which come from
those part of the brain concerned with motor
function, such as basal ganglia, and the
GABA (gamma-aminobutvric acid )
producing purkinje neurons. In other word,
the main cause of primary dystonia is
unknown.
Generalised dystonia
93 Pediatric conditions Hand notes
Usually begin around the time when the
child reaches puberty. The symptoms
usually begins in one of the limbs before
spreading to other parts of the body. The
symptoms include muscle spasms, the limbs
or torso can take on an abnormal, twisted
postures, a foot, legs or arm can turn
inwards, and body parts can jerk rapidly.
1) Dopa-responsive dystonia (DRD)
Dopa-responsive dystonia (DRD) is
also known as hereditary progressive
dystonia with diurnal fluctuations or Segawa
Syndrome. It is a type of generalized
dystonia (affect any part of the body). DRD
can be misdiagnosed as cerebral palsy. DRD
usually present between 1 to 12 year old
child with foot dystonia which affect their
movement especially the way their walk.
Causes
Low doses of levodopa
Clinical presentation
Suffer with their gait.
The sole of the foot may bend
upwards
The foot may turn outwards at the
ankle
Might also have muscle stiffness and
spasm in their arms and torso.
Medical management
Carbidopa/ levodopa is the mainstay
of treatment in DRD. Levodopa is
psychoactive drug which contain in certain
kind of food,herb and dietary supplement.
Levodopa is used to increase dopamine
concentrations.
Focal late-onset dystonia(only affect one
body part)
2) Cervical dystonia
This type of dystonia is also called
torticollis. It affects the muscles in the neck.
The contraction and spasms in neck muscles
are the effect of cervical dystonia.
Clinical presentation
Head and neck twisting
The head and neck being pulled
forward
The head and neck being pulled
backwards
The head and neck being pulled from
side to side.
These symptoms can range from mild
to severe. The symptoms of muscle spasms
and contractions can lead to the additional
symptoms of neck pain and stiffness.
Medical management
All the symptoms states can be
relieved by touching the chin, neck or back
of the neck. The reasons for this action is
unknown.
3) Blepharospasm
This syndrome affect the muscles
around the eye.
Clinical presentation
Eye irritation
Sensitivity to light (photophobia)
Uncontrollable blinking
Uncontrollable closing of the eye.
There can be various symptom
during the day and maybe there are few or
no symptoms when wake up in the morning
but the symptoms get worse when the
person get tired or under stress.
94 Pediatric conditions Hand notes
Medical management
A toxin injection called botulinum can
help for the treatment of the facial spasm.
The example of facial spasm is the eye. So
this method can be used to treat
blepharospasm.
4) Hemifacial spasm
Clinical presentation
Hemifacial spasm causes muscle on
one side of the face to spasm
The spasm become more prominent
and troublesome when the person
with this syndrome is under stress
and tired.
Medical management
The treatment is just the same as
treatment for the blepharospasm. This is
because it affects the facial. So botulinum
can be injected to the patient with hemifacial
spasm.
5) Laryngeal dystonia
Laryngeal dystonia causes the
muscles of the larynx (voice box) ) to spasm
depending on whether the muscles of the
larynx are spasming outwards or inwards.
Clinical presentation
The voice change whether
‗strangled‘ quality or a very
quiet, ‗breathy‘ quality
Medical management
There has been no satisfactory
treatment for this type of dystonia. Speech
therapy, psychotherapy, and
pharmacotherapy can also been used.
Furthermore, injection of botulinum toxin
can be used for this treatment. All patients
received bilateral thyroarytenoid injections.
6) Oromandibular dystonia
Oromandibular is a type of dystonia that
affects the muscles in the mouth and jaws.
This cause the mouth to pull outwards and
upwards.
Clinical presentation
Usually the symptoms will occur when
the person use their mouth such as talking
and eating. The person with this type of
dystonia might also have difficulties in
swallowing (dysphagia).
Medical management
The treatment will begin with the use
of medications and Botox injections.
Dental appliances can also been used
= (They are used for tooth grinding
to reduce the symptoms).
Segmental late-onset dystonia
7) Myoclonus dystonia
Myoclonus dystonia is a rare type of
dystonia that affects the muscles in the arms,
neck and torso (upper part of the body
excluding the head and limbs).
Clinical presentation
It causes sudden ‗jerk-like‘ spasms
which feel like experiencing an
electric shock.
Medical management
Benzodiazepines (particularly
clonazepam) used to treat myoclonus
95 Pediatric conditions Hand notes
dystonia improve both myoclonus and
tremor. Anti-epileptic drugs, including
valproate and topiramate, may also improve
myoclonus
Secondary dystonia (acquired dystonia)
Secondary dystonia are those
disorder in which the dystonia is due to
another particular cause. Usually it involve
the brain damage, or by some identified
cause such as chemical imbalance.
Causes
Brought on after trauma
Induced by certain drugs
Result of diseases of the nervous
system
Clinical presentation
Depression
Lack of concentration
Poor memory function
Incontinence Constipation
Dizziness
Trouble sleeping
Difficulty reading
Investigation
There are no specific diagnosis to
dystonia but there are some way that can be
used as the investigation. Firstly, the doctor
must be familiar with dystonia`s symptom
and they must be able to identify the
physical signs. The most important thing is,
the history of the patient must be clear for
the doctor`s record. Usually, the doctor in
charge in the investigation of dystonia
syndrome is the movement disorder
neurologist.
The investigation should include :
Patient history
Family history
Laboratory studies such as blood and
urine tests,and analysis of
cerebrospinal fluid= (to reveal the
presence of toxins )
Electrical recording techniques, such
as electromyography (EMG) or
electroencephalography (EEG) = (to
provide a definitive diagnosis)
Genetic testing for specific forms of
dystonia
Other tests and screening intended to
rule out other conditions or disorders
Medical management
The purpose of the medical
management is to help lessen the symptoms
of muscle spasm, pain and awkward
postures. The various type of medical
management are specific for the specific
type of dystonia. The medical management
include:
Oral medication
Mainstay of treatment
No single drug helps to decrease
number of individuals.
Include levodopa, trihexyphenidyl,
clonazepam, and baclofen
Botulinum toxin injection
Treat some part of the body such as
neck, jaw, hands or foot.
Servical surgery can be done if there
is no respond after the injection
Ablative surgeries
Pallidotomy and thalatomy
Intrathecal baclofen
Deep brain stimulation
96 Pediatric conditions Hand notes
Therapy
Physical therapy
Aquatic therapy
Regular relaxation practices
Prognosis
Dystonia`s patient who undergo
treatment results positively in their lifestyle.
Most of them had become educated, remain
independent and active, work, date and
marry, and enjoy children and family. Most
cases of primary dystonia will usually
stabilize within five years of onset.
Diagnosis and treatment can often minimize
the impact of clinical presentation and
improve or maintain a person`s ability to
function in everyday activities.
References
Books
1. Harvey S.Singer, Eric H. Kossoff,
Adam L. Hartman , Thomas
O.Crawford. Treatment of pediatrics
neurologic disorder. 2005: 139-144
Internet
2. http://www.dystonia-
foundation.org/pages/articles/221.ph
p?id=14
3. http://www.dystonia-
foundation.org/pages/more_info___s
econdary_dystonias/74.php
4. http://www.mayoclinic.com/health/d
ystonia/DS00684/DSECTION=alter
native-medicine
5.
http://www.ncbi.nlm.nih.gov/books/
NBK1414/
6.
http://www.ncbi.nlm.nih.gov/pubme
d/941769
7. http://en.wikipedia.org/wiki/Dystoni
a#Generalized_dystonias
97 Pediatric conditions Hand notes
Hereditary Spastic Diplegia
Definition
Spastic Diplegia that had been
formally identified as Little‘s
Disease
A type of cerebral palsy where both
the arms and legs have abnormal
stiffness.
It is often affecting the legs and the
affected person is a kid.
Spastic diplegia means stiff or
contracted muscles affecting two
extremities causing weakness.
Spastic diplegia is sometimes also
called paraplegia.
Though a large amount of scenarios
are generally formed from cerebral
palsy, it could be a hereditary
sickness.
Characteristically of spastic diplegia
is in fact brought about through
neurological malformations in or
surrounding the ventricles.
Types
Hereditary spastic diplegia are divided into
two types:
i. Pure
- involve only the lower limbs
- example : spastic paraplegia 4
- this type has an autosomal
recessive mode of inheritance and is
due to a mutation in the SPG 4.
ii. Complex
- involve the upper limbs ( to a lesser
degree) and the nervous system.
- example : spastic paraplegia 11
- this type has an autosomal
dominant mode of inheritance and
the
responsible gene has been mapped to
human chromosome 12.
Classification
i. Based on symptoms
- pure hereditary spastic diplegia is
spastic in the lower limbs
- complex hereditary spastic diplegia
when associated with other
neurological signs, including ataxia,
mental retardation, dementia,
extrapyramidal signs, visual
dysfunction or epilepsy.
ii. Base on mode of inheritance
- hereditary spastic diplegia is a
group of genetic disorder, each
caused by different genes that cause
similar symptoms.
- four different mode of inheritance
(a) autosomal dominant
- represent the most common
mode of inheritance
- autosomal means that the
hereditary spastic diplegia gene is located on
one of the autosomal chromosomes.
(b) autosomal recessive
- forms of hereditary spastic
diplegia are located on one of the
autosomes.
- they can be present in males or
females and passed to males or females.
(c) mitochondrial inheritance
(d) x-linked recessive
98 Pediatric conditions Hand notes
- some genes responsible for
hereditary spastic diplegia are found on the
x chromosome.
iii. Based on patient‘s age at onset
Type l
- age onset below 35 years
- spasticity of the lower limbs
is more marked
Type ll
- age onset over 35 years
- muscle weakness, urinary
symptoms and sensory loss are
marked
Causes
Infection
- women who have an infection while
they are pregnant
- increased levels of cytokines -
immune system cells
- caused by a maternal infection
- can lead to damage of the unborn
baby‘s nervous system.
- the cytokines produce inflammation
to fight the infection, but the inflammation
can damage the unborn baby‘s still
developing nervous system
Seizures, mental retardation, thyroid
- Women with seizures, mental
retardation, or thyroid problems are a likely
to give birth to a child with cerebral palsy.
- Being exposed to a poisonous
substance during pregnancy, also put the
unborn baby at higher risk for cerebral
palsy.
Periventricular leukomalacia (PVL).
- Periventricular leukomalacia is
damage of the white-matter that surrounds
the ventricles.
- periventricular white-matter is
vulnerable to injury in the premature infant
because the blood supply system, and some
of the cells that make up the white-matter
are not fully developed.
- infections present in the mother
increases the risk of PVL.
Degeneration of the upper motor
neurons in the brain and spinal cord.
- These neurons control voluntary
movement; and the cell bodies of these
neurons are located in the motor cortex
area of the brain.
- axons that travel to the brainstem
and down the spinal cord.
- The axons relay messages to lower
motor neurons that are located all along
the brainstem and spinal cord.
- Lower motor neurons then carry the
messages out to the muscles.
- muscles become more spasticity and
weakness.
Genetic, inherited or hereditary
disease.
- it is passed on from generation to
generation
99 Pediatric conditions Hand notes
- it is caused by abnormal variation
(mutations) in the genes that may be passed
on from an affected parent to the unborn
child in the DNA.
Clinical Presentation
Symptoms:
Difficulty with balance, stubbing the
toe stumbling
Increased urinary urgency and
frequency
hyperactive reflexes
clonus
Babinski's sign
diminished vibration sensation in the
feet
muscle spasms,
Muscle pain
Difficulty with walking and scissor
gait
- caused by tight muscles in the hips
and legs.
Problems with speech, swallowing or
breathing
peripheral neuropathy, ataxia, mental
retardation, and epilepsy
deafness
nystagmus
arm, face and neck muscles are
usually affected to a lesser degree
than the legs
Investigation
Diagnosis :
- diagnosis of hereditary spastic diplegia
relies upon family history.
- the presence or absence of additional
signs and the exclusion of other nongetic
causes of spasticity.
- sporadic cases.
- specialized genetic testing targeted
towards known genetic mutations are
available at certain specialized centers.
- cerebral and spinal MRI is an
important procedure and also to detect
associated abnormalities.
Prognosis :
1. Hereditary spastic diplegia /
paraplegia is a progressive
condition and usually starts in the
legs and then spreads to other
muscles, leading to confinement
the bed, the prognosis for
individuals varies greatly.
2. Some cases are seriously
disabling while others are less
disabling and are compatible with
a productive and full life.
3. The majority of individuals with
hereditary spastic diplegia have a
normal life expectancy.
Medical Management
Treatments for Spastic Diplegia :
The treatment plan for cerebral palsy
Spastic Diplegia is usually the mix of
medications, physical therapy, selected
dorsal rhizotomy (SDR) orthopedic
surgery, leg braces as well as rehab.
Physical Therapy
- to restore and maintain the ability to
move
- to reduce muscle tone
- to maintain or improve range of motion
and mobility
100 Pediatric conditions Hand notes
- to increase strength and coordination
- to prevent complications such as frozen
joints, contractures or bedsores.
Surgical interventions
- Orthopaedic surgery can be used to
reduce the effects of contracture,
relocate dislocated joints, assist with
the production of power during
walking and alleviating pain.
- Selective Dorsal Rhizotomy (SDR)
works to prevent the development of
deformities by removes some of the
sensory nerves
- SDR surgery can improve speech,
vision and leg function.
Baclofen
- a voluntary muscle relaxant to relax
muscle and reduce tone.
Botulinum toxin (BOTOX)
- it release the muscle in which it is
injected
-not effective in large muscles
- needs to be injected every three to four
months
Oxybutinin
- this drug can relieve the spasm of
urinary bladder
- help in controlling the flow of urine by
increasing the capacity of the urinary
bladder.
References
- www.disabled-world.com/disability/
hsp.php
- www.wemove.org/hsp/hsp_cau.html
-http://www.brainandspinalcord.org/
-www.hspersunite.org.au/about-hsp/what-is-
hsp/
101 Pediatric conditions Hand notes
Myclonus
Definition
A sudden, brief, jerky, shock like,
involuntary movement.
Introduction
A symptom and not a diagnosis of
disease.
The movement are quite rapid and
may be triggered by attempt at
voluntary movement, sensory
stimulation or startle.
Myoclonic twitches or jerks happens
because the sudden muscle
contractions that is call positive
myoclonus or muscle relaxation that
is known as negative myoclonus.
Myoclonus sometimes occurs in
response to an external event or
when a person attempt for making a
movement and the twitching cannot
be controlled by the person.
Hiccup and ‗sleep starts‘ is the
familiar examples of myoclonus.
These type of myoclonus normally
occur in healthy person and cause no
difficulties.
In some cases, myoclonus occur in
one part of the body and spreading to
another areas of muscles .
However, the severe cases can
disrupt movement and a person‘s
ability to do a daily works such as
feeding , walking, talking and etc.
These types of myoclonus can
indicate underlying disorder in the
brain or nerves.
Anatomically, myoclonus may
originate of the lesions or wounds of
the cortex , sub-cortex or spinal cord.
Types
There are many types of MYOCOLONUS,
such as ;
I. Action myoclonus
- is characterized by muscular
jerking triggered or intensified by
voluntary movement
- is the most disabling forms and this
types of myoclonus will affect the
arms ,legs, face and the voices.
- is it caused by brain damage
because the lack of O2 and the blood
flow to the brain when we inhales or
because the heart is temporarily
stopped pumping.
II. Cortical reflex myoclonus - is a type of epilepsy that originates
in the cerebral cortex
- jerks usually involved only a few
muscles in one part of the body,
however jerks involving many
muscles may occur
- this type of myoclonus can be
intensified when individual is try to
move in certain way
III. Essential myoclonus ~it‘s occurs in the absence of
epilepsy or other apparent
abnormalities of the brain or nerves
~ it‘s can happen to somebody
eventhough people with no family
history but it can also appear in the
inheritance
~this type of myoclonus tends to
stable without increasing in severity
overtime
~in some of families, there will be an
association of essential myoclonus,
essential tremor and myoclonus
dystonia.
102 Pediatric conditions Hand notes
IV. Palatal myoclonus ~is a regular , rhythmic contractions
of one or both side of the rear of the
roof of the mouth called soft palate
~these contractions is very rapid and
occurring 150 times a minute then
may persist during sleep,
accompanied by myoclonus in other
muscles likes face, tongue,
diaphragm and throat.
~this condition is happen at adults
~some people with palatal
myoclonus always regard it as minor
problem, although them occasionally
report of a clicking sound in the ear
and a noise sound in the soft palate
that made by the muscles
V. Progressive myoclonus epilepsy
(PME)
~this rare disorder is a group of
disease characterized by myoclonus
and epileptic seizures always get
worse overtime and sometimes are
fatal
~many of the PME disease is occur
in the childhood or adolescence
~research have founds many forms
of PME , lafora body disease is
inherited as an autosomal recessive
disorder, that it when a child inherits
two copy of defective gene. This
disease is characterized by
myoclonus, epileptic seizures and
dementia
~ a 2nd
group of PME disease is
belongings to the class of cerebral
storage disease usually involves
myoclonus, visual problems,
dementia, and dystonia.
~then, the other group is the class of
system degenerations often is
accompanied by action myoclonus,
and problem with balance and
walking
VI. Reticular reflex myoclonus
~is a type of epilepsy that originates
in the brainstem
~myoclonic jerks is usually affect all
part of the body with muscles on the
both side of the body affected
simultaneously and some of the
people will experienced only a part
of the body like a legs
~these myoclonus disorder can be
triggered by either or voluntary
movement
VII. Spinal myoclonus ~is myoclonus originating in the
spinal cord including segmental
,propriospinal myoclonus
~the latter is usually due to a
thoracic generator producing truncal
flexion jerk
~it is often stimulus-induced with a
delay due to the slow conducting
propriospinal nerve fibres
VIII. Stimulus-sensitive myoclonus ~is triggered by a variety of external
events, including noise, light and
movement
~surprise may increase the
sensitivity of the subject/patient
IX. Sleep myoclonus ~is happens during the initial phase
of sleeping
~somebody with sleep myoclonus
are rarely troubled by or need a
treatment for the condition
~however, this type of myoclonus
may be a symptom in more complex
or disturbing sleep disorder needs to
see a doctor
103 Pediatric conditions Hand notes
Causes
Myoclonus may be caused by a variety of
problems;
Myoclonus may develop in response
to infection, head or spinal cord
damage, brain tumor, stroke, liver or
kidney failure, lipid
o storage disease, drugs
poisoning and other disorder
Hypoxia is the prolonged oxygen
deprivation to the brain may result in
posthypoxic myoclonus
Then, myoclonus also occur because
of itself, but most often it is one of
same symptoms associated with wide
variety of nervous system disorder.
Myoclonic jerks is usually occur in
person with epilepsy that is a
disorder in which electrical activity
in the brain becomes disordered
leading to seizures.
Jerks of a muscle group or a series in
rapid sucession which result in the
person jerking bolt upright from a
more relaxed sitting position is seen
ambulatory patient being treated with
a lots amount of drugs such as
morphine.
It is also because by some of the
unrelated drugs such as
anticholinergics
Beside that, pretidine and tramadol
also can cause a jerk because the
neurotransmitter did not have
opioids.
Then , it also caused by central
nervos system.
Clinical Presentation
Spontaneous ~The initial evaluation is taken to
decide whether the myoclonus is
spontaneous.Typically seen normally
or in patients with metabolic
encephalopathies or CJD
Action ~which occurs during active
muscular contractions , and is very
disabling
Reflex ~which occurs to somesthetic, visual
and auditory stimulies
Besides that the other clinical presentation
or is commonly known as a symptons is
myoclonic seizures that can be describes as
jumps. They are caused by rapid contraction
and relaxation of the muscle. Person with no
epilepsy can suffer a little but same jerks in
the form of brief twitches or hiccups.
People with epilepsy , myoclonic seizures
cause abnormal movements on both side of
the body at same time. In reflex , epilepsy ,
myoclonic seizures can bring on by flashing
or environmental trigger.
Severe cases of pathologic myoclonus can
distort movement and severely limits of a
person ability to walk, sleep, and talk .
104 Pediatric conditions Hand notes
Myoclonic jerks commonly occur in
individuals with epilepsy.
Investigation
History and examination is followed by a
series of the investigation that can help to
find the cause.
There are many investigations will be done
to know the myoclonus problem;
Electroencephalography(EEG)
~this test is to record the electrical
activity of your brain.
o ~a small electrodes are
attached on the patient scalp
with paste. The patient will
be asked to inhale steadily for
a few minutes and at the
same time light may be
flashed in patient‘s eyes.
Electromyography(EMG)
o ~this test will measure the
electrical discharge produce
in muscle.
~a very fine wire electrodes
are inserted into the allocated
muscle, an instrument record
the electrical activity from
the patient‘s muscles
o ~these signal help to
investigate if there is a
damage to the muscles.
Magnetic resonance imaging(MRI) ~a test that uses magnetic and radio
waves to take pictures of the inside
of the body
CT scan a type of x-ray that uses a computer
to make pictures of the inside of the
body.
Blood test ;
- blood chemistrty
- thyroid function
- complete blood cell count
- toxicology screen to check for
drugs or toxic
- blood test for looking other
metabolic causes
Medical management / Treatments
There are many ways to treat this
myoclonus disorder;
Medications ~Tranquilizer such as Clonezepam,
Diazepan and Lorazepam
~Anticonvulsants such as Keppra
,Tegretol , Topamax and Depakote
Therapies ~Botox may be helpful in treating
various form all types of myoclonus.
Botox will block the release of chemical
messenger that triggers muscle
contractions
Surgery ~Surgery will be an option if there are
the lesion/wound in your brain or spinal
cord
References
http://www.thirdage.com/hc/c
/what-is-myoclonus
http://en.wikipedia.org/wiki/
Myoclonus
http://www.ninds.nih.gov/dis
orders/myoclonus/detail_myo
clonus.htm
http://www.mayoclinic.com/h
ealth/myoclonus/DS00754
105 Pediatric conditions Hand notes
Rett’s Syndrome
Definition
Rett syndrome is a childhood
neurodevelopmental disorder characterized
by normal development in early life.
However, between 6 and 18 months
of age, though, changes in the normal
patterns of mental and social development
begin.
For example, patient will loss of
purposeful use of hands, distinctive
hand movements,
slowed brain and head growth, gait
abnormalities, seizures, and mental
retardation.
Rett syndrome is an autism spectrum
disorder that affects girls almost exclusively.
Although there's no cure, early
identification and treatment may help girls
and families who are affected by Rett
syndrome.
The disorder was identified by Dr.
Andreas Rett, an Austrian physician.
Types
There are some types of Rett syndrome:
· Atypical
· Classical
· Provisional
Rett syndrome is classified as atypical if:
· The disorder begins soon after birth or
beyond 18 months of age, sometimes as late
as 3 or 4 years old.
· Speech and hand skill problems are
mild.
· The disorder appears in a boy is very
rare.
Rett syndrome is classified as classical if the
patient meets the diagnostic criteria. For
example:
· The patient developed normally until
the age 6 to 18 months.
· The patient has severely impaired
language and communication skills.
Rett syndrome is classified as provisional if
some symptoms appear between ages 1 and
3.
Stages
There are four stages of Rett syndrome:
Stage 1 (early onset)
· Generally begins between 6 and 18
months age.
· At this stage, symptoms of the
disorder are overlooked because they vague.
· The baby starts to show less eye
contact and not interested in toys.
· Delays in gross motor skills such as
sitting or crawling will be occurring.
· Hand-wringing and decreasing in the
growth of the head may be occur, but it still
not enough to draw attention.
· Usually, this stage lasts for a few
months but can persist for more than one
year.
Stage 2 (rapid destructive)
· Generally begins between ages 1 and
4 years old.
· At this stage, purposeful hand skills
and spoken language are lost.
· Characteristic of hand movements
start to appear. For example, wringing,
washing, clapping, or tapping, as well as
repeatedly moving the hands to the mouths.
106 Pediatric conditions Hand notes
· Sometimes, hands are clasping behind
the back or held the sides with random
touching, grasping, and releasing.
· It happens while the children are
awake and disappear while the children
sleep.
· Breathing irregularities may occur
and breathing back to normal during sleep.
· Display autistic-like symptoms occur
in some girls with Rett syndrome.
· General irritability and irregularities
in sleep may be seen.
· Initiating the motor movements will
be difficult and gait patterns are unsteady.
· Slowing of head growth is noticed.
· Usually, this stage lasts for weeks or
months.
Stage 3 (plateau or pseudo-stationary)
· Generally begins between ages 2 and
10.
· At this stage, apraxia, motor problems
and seizures are prominent.
· However, there may be improvement
in behavior with less irritability, crying, and
autistic-like features.
· Children with Rett syndrome may
show more interest in their surroundings.
· Their alertness, attention span and
communication skills also may improve.
· Many of the girls with Rett syndrome
remain at this stage for most of their lives.
· Usually, this stage last for years.
Stage 4 (late motor deterioration)
· At this stage, the prominent features
are muscle weakness, rigidity, spasticity,
dystonia and scoliosis.
· Girls who are can walk before this
may stop walking.
· There is no decline in cognition,
communication, or hand skills.
· Repetitive hand movements will
decrease and eye gaze will improve.
· Usually, this stage last for years or
decades and is characterized by reduced
movement.
Causes
Rett syndrome is caused by a
mutation in the MECP2 gene, which is
located on the X chromosome. The X
chromosome is one of two chromosomes
that form the gender of a person.
Researchers found that the MECP2
gene is one of the genes that responsible for
making a protein needed for normal brain
development. The research was identified in
1999.
In each cell, girls have two X chromosome.
Every cell inactivates one of its two X
chromosomes because a cell just needs only
one copy of the gene. The more cells that
have an inactivated version of the mutated
gene, the milder the case of Rett syndrome.
Whereas, the boys have one X chromosome
and one Y chromosome. Usually, boys will
die from mutations in Rett syndrome gene
before the birth or in early life because they
lack the second normal X chromosome. The
second X chromosome partially protects the
girls.
Seventy to 80 of girls that faced with Rett
syndrome have a mutation of the MECP2
gene. Scientists think that the other 20 to 30
percent of cases the syndrome may be
caused by mutations in other parts of the
MECP2 gene. It may be by partial gene
deletions or by genes that have not yet
found.
107 Pediatric conditions Hand notes
Clinical Presentation
Signs of Rett Syndrome
· Children with Rett syndrome do not
make conversation.
· Children with Rett syndrome have a
problem with learning and reasoning or in
the other hand, it called intelligence.
· Cannot control the use of hands and
puts her hands in the mouth often also the
sign of Rett syndrome.
· The growth of the head becomes
slowly not like the other parts of the body
also the sign for the children with Rett
syndrome.
· Children with Rett syndrome also
walk in an unstable manner, on tiptoes or
with the feet spread wide apart.
· Children with Rett syndrome also
have problem breathings and problem
sleeping during normal.
· They also have to face with seizures
and scoliosis.
Symptoms of Rett Syndrome
· The rate of growth becomes slow.
After birth, the brain growth with slowly.
Usually, the first sign that a child has Rett
syndrome is the size of head smaller than
normal. That sign start to appear after 6
months of age. Delayed growth in other
parts of the body becomes evident when the
children with Rett syndrome get older.
· The children with Rett syndrome will
loss the normal movement and coordination.
Usually, it starts between 12 to 18 months of
age. The decreasing of hand control and
ability to crawl or walk normally are the first
signs that often include in Rett syndrome. At
first, the decreasing of this ability happens
rapidly and then continues more gradually.
· The children with Rett syndrome also
will loss the abilities of communication and
thinking. At ages 12 to 18 months, they
typically begin to lose the ability to speak
and communicate in other ways. They also
become uninterested in other people, toys
and their surroundings. Over time, most of
them gradually regain eye contact and
develop nonverbal communication skills.
· The children with Rett syndrome have
an abnormal hand movement. As the disease
progresses, the children typically develop
their own particular hand patterns. For
example, hand wringing, squeezing,
clapping, tapping or rubbing.
· Eye with unusual movements also the
symptom for the children with Rett
syndrome. Examples of unusual eye
movements are blinking or closing one eye
at a time.
· Problems in breathing include breath-
holding, abnormally rapid breathing and
forceful exhalation air or saliva also one of
the symptoms that will face by the children
with Rett syndrome. These problems happen
during waking hours, but not during sleeps.
· Irritability also the symptom of Rett
syndrome. The children with Rett syndrome
become more agitated and irritable when
they get older. They will cry or scream with
suddenly and will last for hours. Between
the ages of 2 and 10 years old, the children
become calmer.
· Children with Rett syndrome have
abnormal behaviors. For example, sudden,
odd facial expressions and long bouts of
laughter, screaming that occur for no reason,
108 Pediatric conditions Hand notes
hand licking, and grasping of hair or
clothing.
· Seizures also the symptom for Rett
syndrome. Most of the children with Rett
syndrome will have the development of
seizures. Symptoms different from person to
person, and they can range from periodic
muscle spasms to full-blown epilepsy.
· Abnormal curvature of the spine or
scoliosis occurs in children with Rett
syndrome. Usually, it begins between 8 and
11 years old.
· Children with Rett syndrome also
have an irregular heartbeat or arrhythmia.
For the children and adults that have Rett
syndrome, this is a life-threatening problem.
· Constipation is a common problem in
people that have Rett syndrome.
Investigation
· Blood and urine tests; analysis of
cerebrospinal fluid (CSF), neurophysiologic
tests, such as electromyography (EMG) and
Nerve conduction velocity (NCV) studies,
and neuroimaging techniques, including
computerized tomography (CT) scanning or
magnetic resonance imaging (MRI) – to
eliminate possible neurodegenerative,
neurometabolic, mitochondrial, or other
disorders that may have similar symptoms.
· Electroencephalography (EEG) –
detect brain wave patterns that are
unusually slow, characteristic of certain
types of seizure activity, or associated with
abnormal sleep patterns.
· X-ray – confirm relative shortening of
certain bones.
· Electrocardiography – to detect heart
conduction abnormalities.
· Developmental landmarks – generally
in head circumference and growth progress
· Nutritional markers – weight and
height of the patient
· Musculo-skeletal status – muscle
tone, supine posture for scoliosis and joint
contractures
· Movements – gross motor function,
involuntary movements and voluntary hand
use.
· Mental and cortical functions –
intellectual disability, speech and epilepsy.
· Brainstem and autonomic functions –
disturbed awake breathing rhythm, poor
peripheral circulation, mood disturbance
and sleep disturbance.
Medical Management
There are various treatments for the various
health issues of Rett syndrome. For
example:
Naltrexone (ReVia) is an opiate antagonist
that can help regulate irregular breathing.
Yet, a study suggests that the drug speeds up
the progression of the disease.
Levodopa (L-dopa) therapy is a synthetic
dopamine drug that can help relieve muscle
stiffness.
Some people with Rett syndrome who take
anticonvulsants to prevent seizures
experience carnitine
deficiency. Levocarnitine (L-carnitine)
effectively treats the deficiency.
Tyrosine (dopamine and noradrenalin)
and tryptophan (serotonin) are amino acids
that can improve neurotransmitter levels in
the brain.
109 Pediatric conditions Hand notes
Bromocripitine (parlodel) can improve the
brain's dopamine function. The drug helps
with self-stimulatory hand movements.
· Intake of nutritional and caloric must
be controlled.
· Supplemental feedings is used to deal
with slowed growth.
· A feeding tube is necessary if the
child has difficulty chewing.
· A nasogastric feeding tube will
directly deliver the liquid nutrients to the
stomach through a tube inserted in the nose.
· Special diets can help a person to
maintain an ideal weight and nutritional
balance, which may contribute toward
making symptoms less severe.
· Advantage of providing a normal
intake of fluids and high-fiber foods is to
avoid or relieve constipation.
· Calcium and minerals supplements
help to build up the bones and slow the
progression of scoliosis.
Prognosis
The course of Rett syndrome,
including the age of onset and the severity of
symptoms, varies from child to child.
Despite the difficulties with symptoms, most
individuals with Rett syndrome continue to
live well into middle age and beyond.
Because the disorder is rare, very little is
known about long-term prognosis and life
expectancy. Currently, there is no cure for
Rett syndrome. Treatment for the disorder is
symptomatic. It only focusing on the
management of symptoms and requiring a
multidisciplinary approach.
Treatment of Rett syndrome includes:
· Medication may be needed for
breathing irregularities and motor
difficulties, and antiepileptic drugs may be
used to control seizures. There should be
regular monitoring for scoliosis and possible
heart abnormalities.
· Occupational therapists will help
children develop skills needed for
performing self-directed activities such as
dressing, feeding, and practicing arts and
crafts.
· Physiotherapy and hydrotherapy may
prolong mobility.
· Physical therapy responsible to keep
the muscles of the hands from contracting.
· Speech therapy may be necessary if
the child has problems in speaking,
communicating or swallowing.
· Some children may require special
equipment and aids such as braces to arrest
scoliosis, splints to modify hand
movements, and nutritional programs to help
them maintain adequate weight.
· Special academic, social, vocational,
and support services may also be required in
some cases.
References
1. http://www.mayoclinic.com/health/rett
-syndrome/DS00716
2. http://www.ninds.nih.gov/disorders/ret
t/details rett.htm
3. http://www.ncbi.nlm.nih.gov/pudmedh
ealth/PMH0002503/
4. http://www.mychildwithoutlimits.org/
5. http://www.healthnewflash.com/condit
ions/rett syndrome.php
6. http://www.wellness.com
110 Pediatric conditions Hand notes
CHILDREN WITH
DEVELOPMENTAL
DELAY
Developmental Delays
Definition
Child development refers to the
process in which children go through
changes in skill development during
predictable time periods, called
developmental milestones.
Developmental delay occurs when
children have not reached these
milestones by the expected time
period.
For example, if the normal range for
learning to walk is between 9 and 15
months, and a 20-month-old child
has still not begun walking, this
would be considered a
developmental delay.
Developmental delays can occur in
all five areas of development or may
just happen in one or more of those
areas.
Additionally, growth in each area of
development is related to growth in
the other areas. So if there is a
difficulty in one area (e.g., speech
and language), it is likely to
influence development in other areas
(e.g., social and emotional).
A child may have a developmental delay in
one or more of these areas.
Gross motor: using large groups of
muscles to sit, stand, walk, run,
keeping balance, and changing
positions.
Fine motor: using hands and fingers
to be able to eat, draw, dress, play,
write, and do many other things.
Language: speaking, using body
language and gestures,
communicating, and understanding
what others say.
Cognitive: Thinking skills including
learning, understanding, problem-
solving, reasoning, and
remembering.
Social: Interacting with others,
having relationships with family,
friends, and teachers, cooperating,
and responding to the feelings of
others.
TYPE
There are various types of developmental
delays in infants and young children which
are listed below :
1. Attention Deficit Disorder (ADD)/
Attention Deficit Hyperactivity
Disorder (ADHD)
One of the most common
neurobehavioural disorder,
characterized by problems with
inattentiveness, over-activity,
impulsivity or a combination.
2. Angelman Syndrome
A genetic disorder in which gene
15 is missing or unexpressed.
Children with this syndrome
typically developmental delays
that are frequently evident
between 6-12 age.
3. Autism Spectrum Disorders
111 Pediatric conditions Hand notes
Autism is an umbrella term for a
wide spectrum of disorders
Sometimes referred to as
―Pervasive Developmental
Disorders‖ or ―Autism Spectrum
Disorders.‖
4. Bipolar Disorder
Also known as manic depression
A form of mood disorder
characterized by variation of
moods that fluctuate between a
manic phase of elation,
hyperactivity and hyper
imagination, and a depressive
phase f inhibition, slowness to
conceive ideas and move, and
anxiety or sadness.
5. Central Auditory Processing
Disorder (CAPD)
Children with CAPD cannot fully
process auditory information
passed between the ear and the
brain.
They may have difficulties hearing
amidst distracting background
noise, remembering information,
discriminating between similar
sounds or words, or listening long
enough to complete a task.
It may affect their ability to
develop normal language skills,
succeed academically, or
communicate effectively.
6. Cerebral Palsy
Disorder caused by damage to the
brain that occurs before, during, or
shortly following birth.
It affects body movement and
muscle coordination such as
seizures, abnormal speech, hearing
and visual impairments, and
mental retardation.
7. Down Syndrome
Chromosomal abnormalities that
changes the course of development
and causes the characteristics
associated with the syndrome.
Speech and language may be
delayed
8. Expressive Language Disorder
Child will have problems
expressing him or herself in
speech.
Characteristics may include limited
vocabulary, difficulty recalling
words and producing complex or
lengthy sentences.
Children with expressive disorder
often start speaking late and
experience delays acquiring
expressive language.
9. Fragile-X syndrome
Most common form of mental
retardation
More common in boys than girls.
Often have distinctive physical
feature such as long face, large
prominent ears and hyperextensible
joints.
10. IsoDicentric 15
Also known as idic (15)
Patient may experienced flat nose
(button nose), folds at the corner of
the eyes and other may be present.
11. Landau-Kleffner Syndrome
Progressive loss of the ability to
understand and use spoken
112 Pediatric conditions Hand notes
language, following a period of
normal speech development.
Most frequently occur in
developing children who are
between 3 to 7 years old.
12. Learning disabilities (LD)
Characterized by difficulty
learning, sorting and storing
information.
Usually affected individuals have
with average or above average
intelligence.
They may have one or more
difficulties with skills such as
listening, speaking, reading,
writing, reasoning, or mathematical
abilities that interfere with
academic performance.
13. Mental retardation
Substantial limitations in
intellectual functioning and
adaptive skills.
Person with mental retardation may
have difficulties with
communication, conceptual skills,
social skills, self care, home living,
community use, self direction,
health and safety, functional
academics, leisure and work.
14. Neural Tube Defects
Birth defects that involve central
nervous system.
The disability that may occur
including learning disabilities,
social issues, lower extremity
paralysis, loss of bowel or bladder
control, and hydrocephalus .
These disabilities can produce
retardation unless it is surgically
treated.
15. Phenylketonuria (PKU)
Is an inherited metabolic disorder
in which the body cannot
metabolize the amino acid
phenylalanine that is present in
many common foods.
PKU can cause various degree of
mental retardation, seizures, and
other neurological problems.
16. Pruder-Willi Syndrome
Prader-Willi Syndrome is a
combination of birth defects
caused by inheriting both copies of
the #15 chromosome from the
mother (25%) or by inheriting a
deletion of a region of
chromosome #15 from the father
(75% of PWS).
Signs of PWS include hypotonia,
global developmental delay evident
before age 6, feeding problems in
infancy, narrow face, almond-
shaped eyes, small-appearing
mouth, hypopigmentation, motor
planning problems, behavioral
problems, sleep disturbances and
compulsive eating problems.
17. Seizure disorder
It may cause physical convulsion,
minor physical signs, thought
disturbances, or a combinations of
symptoms that are the result of
uncontrolled electrical activity in
the brain.
The patient may occur one or more
different types and levels of
severity of seizures.
18. Tourette Syndrome
Tourette Syndrome is a
neurological disorder characterized,
113 Pediatric conditions Hand notes
in mild form, by recurring
involuntary body movements and
sounds (called tics) and, in
advanced cases by large involuntary
bodily movements, noises like
barks and whistles, and in many
instances an uncontrollable urge to
utter obscenities.
People with Tourette Syndrome are
often impulsive and have other
symptoms of Attention Deficit
Disorder.
19. Traumatic Brain Injuries
TBI is a disabilities category that
occurs because of brain injury to
the brain as a result of an accident,
insufficient oxygen, poisoning or
infection at any time during
individual‘s life.
It does not include congenital or
degenerative brain injuries or brain
injuries caused by birth trauma.
20. Williams Syndrome
Rare genetic disorder present at
birth at is associated with deletion
of genetic material in chromosome
7.
The disorder is characterized by
unique elfin facial features, heart
and blood vessels problem, elevated
blood calcium levels, slow weight
gain, feeding problems, colic, dental
problems, kidney problems, hernias,
and hypotonia.
Causes
Three main causes of developmental delay.
genetic
complications in prenatal, natal and
post natal
environment
1) Developmental delay cause by
genetic
autism spectrum disorder
down syndrome
fragile X syndrome
2) Developmental delay cause by
complication in prenatal, natal and
post- natal
Prenatal
drug abuse
alcohol
smoking
brain trauma
ex : mother had an accident during
pregnancy and may cause brain
damage to the baby
Natal
Premature birth
premature baby`s brain didn`t fully
develop.
Encephalitis
It is an irritation and inflammation of
the brain that lead to the destruction
of nerve cells, bleeding into the brain
(intracerebral hemorrhage), and brain
damage.
Brain trauma
114 Pediatric conditions Hand notes
Ex : doctor`s equipment hits baby`s
head
Post - natal
fatal exposure to toxins
brain trauma
Ex : baby falls down
meningitis
is an inflammation of the meninges,
the membranes that cover the brain
and spinal cord.
3) Developmental delay cause by
environment
malnutrition
unbalanced diet in which certain
nutrients are lacking, in excess (too
high an intake), or in the wrong
proportions
metabolic disorder
abnormal chemical reactions in your
body disrupt metabolic process
child abuse
abuse:
to treat in a harmful, injurious, or off
ensive way
child abuse is physical, sexual,
emotional mistreatment, or neglect
of children.
learning abnormalities
socio-emotional development
is changes in a person's emotions,
relations with others, self-concept,
and personality, which is a stable
way of thinking, feeling, and
behaving.
Illness.
Sign and symptom
There are several general sign and
symptom of this developmental delay.
These include :
Behavioral Signs
Does not pay attention or stay
focused on an activity for as long
time as other children of the
same age.
Avoids or rarely makes eye
contact with others
Shows aggressive behaviours and
appears to be very stubborn
compared with other children
Displays violent behaviours on a
daily basis
Does not seek love and approval
from the caregiver or parent
Gross Motor Signs
Has stiff arms and / or legs
Has a floppy or limp body
posture
Uses one side of body more than
the other
Has a very clumsy manner
compared with other children of
the same age
115 Pediatric conditions Hand notes
Vision Signs
Seems to have difficulty following
objects or people with his eyes
Rubs eyes frequently
Turns, tilts or holds head in a
strained or unusual position when
trying to look at an object
Has difficulty focusing or making
eye contact
Eyes appears to be crossed or
turned
Brings objects too close to eyes
to see
One or both eyes appear abnormal
in size or coloring
Hearing Signs
Talks in a very loud or very soft
voice
Seems to have difficulty
responding when called
Has difficulty understanding what
has been said or following
directions
Doesn‘t startle to loud noises
Ears appear small or deformed
Investigation
Investigation of developmental delay is
carried out during the early life‘s child. The
investigation of this abnormal condition
might be difficult. Regression is necessary
to be defined out.
When performing investigations, the
approach to perform it is influenced by:
1)The practicalities of carrying out
investigations on child/subject
2)Financial considerations
3)Identifying prevalent serious
conditions.The examples are Creatine
Kinase and Muscular Dystrophy
4)Identifying treatable conditions
Investigation methods
1)Genetics
-Chromosome analysis shows the highest
number of abnormalities investigating
developmental delay
-Chromosome and Fragile X are located in
first line investigations if history and
examination do not reveal an obvious
etiology.
-Fragile X indicates the commonest factor of
learning disability
2)Neuroimaging
-Day case admission to hospital for sedation
or general anaesthesia is required if cranial
MRI[Magnetic Resonance Imaging] is
conducted for child below 5 or 6 years.
3)Metabolic
-Individual Inborn Errors of Metabolism
[IEM] can present with non-specific
developmental delay.
-Usually these errors are rare to occur
-Metabolic investigations are specific
116 Pediatric conditions Hand notes
5)Renal, Bone
-Electrolytes and Urea are placed in first line
investigations
-Calcium measurement may assist in the
diagnosis of Velo-cardio-facial and
Williams
syndrome,pseudohypoparathyroidism.
6)TFT[Thyroid Function Test]
-Thyroid Function tests are easy to be
performed
-Many chromosomal abnormalities are
associated with an increased risk of
thyroidism
7)Lead
-Chronic lead toxicity may cause long
lasting developmental delay, behavorial and
poor coordination
-Treatable by chelation
8)FBCF
-Full Blood Count and Feritin[FBCF]
detects iron deficiency which may lead to
developmental delay
-It is treatable
9)Opthalmology
-Opthalmology is performed when there are
concerns about visual function, abnormal
appearances of eyes.
10)Radiograph
-Mainly performed to detect suspected
skeletal dysplasia or lead toxicity.
Medical Management
There is no one treatment that works
for every child with a developmental
delay.
In many cases, the delay can be
overcome with the right combination
of treatment by the therapies.
Children are unique, they learn and
grow and develop in their own way,
at their own pace, based on their
strengths and weaknesses.
Any treatment plan will take this
uniqueness into account and be
designed to focus on individual
needs.
Early intervention services are the
main theme of treatment, but any
underlying conditions that have lead
to developmental delay will need to
be treated as well. Early intervention
services may include:
Speech and language therapy.
Occupational therapy.
Physical therapy.
In addition, if there are other disabilities
present, medical or surgical treatments
may be required to manage those
conditions.
Reference
http://www.firstsigns.org/delays_disorders/o
ther_disorders.htm
http://www.webmd.com/parenting/baby/reco
gnizing-developmental-delays-birth-age-2
http://wiki.answers.com/Q/Definition_of_so
cio-emotional_development
117 Pediatric conditions Hand notes
http://dictionary.reference.com/browse/abus
e
http://www.wrongdiagnosis.com/symptoms/
developmental_delay_in_children/common.
htm
http://www.mychildwithoutlimits.org/?page
=what-causes-developmental-delay
CHILDREN WITH
COGNITIVE
DYSFUNCTION
Mental Retardation
Definition
Mental Retardation is a condition diagnosed
before age 18 that includes below-average
general intellectual function, and a lack of
the skills necessary for daily living. The
person who faced with this disease has a
noticeable deficiency in the development of
motor, social, cognitive and language
functions.
Types
There are 4 types of mental retardation.
Mild Mental Retardation
Mild mental retardation is approximately
85% of mentally retarded population.The
patient is often acquire academic skills up to
sixth-grade level.He can become fairly self-
sufficient and in some cases live
independently,with community and social
support.
Moderate Mental Retardation
This kind of mental retardation is 10% of
mentally retarded population. The patient
can carry out work and self-care tasks with
moderate supervision. He is typically
acquire communication skills in childhood.
He also is able to live and function
118 Pediatric conditions Hand notes
successfully within the community in such
supervised environments as group homes.
Severe Mental Retardation
It covers about 3-4% of mentally retarded
population. The patient may master very
basic self-care skills and some
communication skills. They are able to live
in a group home.
Profound Mental Retardation
This profound mental retardation is only 1-
2% of mentally retarded population.The
patient may be able to develop basic self-
care and communication skills but with
appropriate support and
training.Moreover,this type of patient need a
high level of structure and supervision.
Table 1 shows types of mental retardation
with different IQ level :
LEVEL OF MENTAL
RETARDATION
IQ
LEVEL
Mild Mental Retardation 50-69
Moderate Mental Retardation 36-49
Severe Mental Retardation 20-34
Profound Mental Retardation Below 20
Table 1
Causes
Infections (at birth/after birth)
Congenital CMV (Cytomegalovirus)
Congenital Rubella
Congenital Toxoplasmosis
Encephalitis
HIV infection
Listeriosis
Meningitis
Chromosomal Abnormalities
Chromosome deletion (such as Cri
Du Chat)
Chromosome translocation (a gene is
located in an unusual spot on a
chromosome, or located on a
different chromosome than usual)
Defects in the chromosome or
chromosomal inheritance (such as
Fragile X Syndrome, Angelman
Syndrome,Prader-Willi Syndrome)
Errors of chromosome numbers (ex :
Down‘s Syndrome )
Environment
Deprivation Syndrome
Genetic Abnormalities And Inherited
Metabolic Disorders
Adrenoleukodystrophy
Galactosemia
Hunter Syndrome
Hurler Syndrome
Lesch-Nyhan Syndrome
Phenylketonuria
Rett Syndrome
Sanfilippo Syndrome
Tay-Sachs Disease
Tuberous Sclerosis
Metabolic
Congenital Hypothyroid
Hypoglycemia (poorly regulated
Diabetes)
Reye Syndrome
119 Pediatric conditions Hand notes
Hyperbilirubinemia (very high
bilirubin levels in babies)
Nutritional
Malnutrition
Toxic
Intrauterine exposure to alcohol,
cocaine, amphetamines and other
drugs
Lead poisoning
Methyl mercury poisoning
Trauma (before and after birth)
Intracranial hemorrhage
Lack of oxygen to the brain
Severe head injury
Unexplained Cause
It is the largest category of cause of
mental retardation
Clinical Presentation
Mild Mental Retardation
1. Have learning difficulties and poor
social skills
2. Can reach the educational plateau up
to Grade 6
3. The educational attainment is very
difficult or impossible
4. With age until childhood,he may
learn enough job skills and life skills
to carry forward his life on his own
Moderate Mental Retardation
1. Reach developmental milestones a
bit later than others
2. Child faces difficulty in learning
basic communication, social and
academic skills
3. Have lacks ability to retain
information and remember things
4. Also have lacks curiosity, logical
thinking and problem solving
capability
5. Need constant supervision and care
for survival
6. They are trainable for vocational
activities
Severe Mental Retardation
1. Shows all mentioned symptoms of
mild and severe, but a very high
level
2. Shows aggressiveness and self-injury
3. Child not able to learn the basic
skills of life
4. Needs another person‘s nursing,
supervision and care throughout his
entire life
5. The children can be trainable with
activity of daily living (ADL)
Profound Mental Retardation
1. There is no muscle co-ordination
seen in the infant
2. Child not able to reach
developmental milestones like
talking,walking and crawling as
expected with age and growth
3. Child requires constant care and
supervision throughout his life
120 Pediatric conditions Hand notes
Investigation
We can assess the patient who suspected
with mental retardation by a lot of ways.
Some of them are :
Physical Examination
The therapist should looking for any
characteristic dysmorphic
(abnormality of shape) features of
face and body.
Interviews With Parents
It is to assess the child‘s daily
living,muscle control,communication
and social skills.
Denver Developmental Screening
Test
Used for screening cognitive and
behavioural problems in preschool
children.
Electroencephalogram
It is used to detect associated
epilepsy.
IQ Test
IQ Test is used to assess the patient‘s
intelligence.
There are a few types of IQ Test :
1. Wechsler Intelligence Scale
For Children
2. Stanford-Binet
3. Woodcock-Johnson Tests of
Cognitive Abilities
4. Kaufman Assessment Battery
For Children
Radiological Investigation
MRI and CT Scan are used to detect
the presence of physical findings that
are unseen by human‘s eye.
Medical Management
MEDICINE
Anti-Psychotics
Anti-psychotics used to control the
symptoms of mental retardation.
SURGERY
Surgery is rare to manage the child
with mental retardation.
REHABILITATION
Occupational Therapist:
Occupational Therapist help patient
acquire the skills to care for
themselves or others which including
:
Keeping a schedule
Medication management
Education
Participate in the community
Engaging in productive
activities to fill the day
Coping skills
Building social skills
Physiotherapist: Therapist help to the
impairments of vision, ambulation,
activities of daily living (ADL),
movement and muscle strength.
Therapist also focus the treatment on
121 Pediatric conditions Hand notes
improving gross and fine motor
skills,balance and co-
ordination,strength and endurance as
well as cognitive and sensory
processing/integration.
Family Therapy
Family members should be
interactive and co-operate each other
to help the patient to develop their
coping skills.This therapy also can
be supportive to the patient and
produces warm home environment
which can help patient to reach their
full potential.
References
1. Frankenburg, W.K. and Dodds, J.B.:
The Denver Developmental
Screening Test. J. Pediat., 71:181,
1967.
2. Frankenburg, W.K., Dodds, J.,
Archer, P. et al.: The DENVER II: A
major revision and restandardization
of the Denver Developmental
Screening Test. Pediatrics, 89:91-97,
1992
3. Camp, B.W.: Evaluating bias in
validity studies of developmental/
behavioral screening tests,
2007,28,234-240.
4. Begg, C.B.Biases in the assessment
of diagnostic tests. Stat Med
1987;6:411-423
122 Pediatric conditions Hand notes
Pervasive Development
Disorders
Introduction
The term pervasive development
disorder was first used in the 1980s
to describe a class of neurological
disorders that involve impaired
social and communication skills and
repetitive behaviors.
Due to the difficulty of accurately
describe these disorders using the
term pervasive development
disorders, some neurological and
psychiatric specialists have
suggested a new term to describe this
class of disorders, including autistic
spectrum disorders and various
neurological disorders system.
Definition
Pervasive development disorders (PDD)
refers to a group of conditions that come
from childhood involving severe damage in
several areas, including physical, behavioral,
cognitive, social and language development.
PDD appears in the early stages as
an affected, but more often identified
in young children, mostly boys 18-30
months of age when their parents or
doctors note the absence or delay in
speech development and less
interested in normal children or other
regression of early speech and
sociability.
Classical autism is best known
subtypes of the disease and involves
severe qualitative deficits in social
interaction, language communication
and play and is associated with
perseverative behavior and
stereotypic.
Other conditions that fall under this
category of Pervasive Development
Disorders including Asperger‘s
disorder, Rett's disorder, Childhood
Disintegrative Disorder and
Pervasive Development Disorder
Not Otherwise Specified
(PDDNOS).
Types
There are 5 main types of pervasive
development disorders :
Autistic Disorders
Autistic Disorder, sometimes
referred to as early autism baby
or child autism, is four times
more frequently in boys than
girls. Autistic Disorder children
have moderate to severe range of
communication, socialization and
behavioral problems. Many
children with autism also have
mental retardation.
Rett‘s Disorder
Rett‘s Disorder, also known as
Rett syndrome, diagnosed
primarily in females. In children
with Rett‘s Disorder,
123 Pediatric conditions Hand notes
development seemed normal
over the first 6-18 months at the
point where parents notice
changes in their child's behavior
and some regression or loss of
ability, especially in gross motor
skills like walking and moving .
This was followed by a clear loss
in abilities such as speech,
thought, and the hand use. The
repetition of certain movements
or meaningless gestures is an
important indicator for the
diagnosis of Rett's Disorder. This
gestures usually consists of
regular hand-wringing or hand
washing.
Childhood Disintegrative Disorder
Childhood Disintegrative
Disorder is extremely rare, it is
clearly apparent regression in a
variety areas of functioning (such
as the ability to move, bladder
and bowel control, and social and
language skills) following a
period of at least 2 years of
development seems normal. By
definition, childhood
Disintegrative Disorders can only
be confirmed when symptoms
are preceded by at least 2 years
of normal development and the
beginning of the decline was
prior to 10 years.
Asperger's Disorder
Asperger's Disorder, also
referred to as Asperger‘s
syndrome, are disorders
characterized by lack of
development of social skills,
difficulty with social
relationships, poor coordination
and focus, and a variety of
limited interest, but normal
intelligence and adequate
language skills in the areas of
vocabulary and grammar. An
individual with Asperger's
Disorder do not have a
significant delay in language
development, but he may have
difficulty to understanding the
subtleties used in conversation,
such as irony and humor.
Pervasive Developmental Disorder
Not Otherwise Specified, or
PDDNOS
This category is used to refer to
children who have significant
problems with communication
and play, and some difficulty
interacting with others, but are
too social to be considered
autistic. Typically, children with
PDDNOS showed no signs until
age three or four.
Causes
The cause of this disorder is
unknown although brain structure
abnormalities, genetic mutations, and
changes in brain function is believed
to play a role. However, no single
brain abnormalities or location is
connected to the cause. In 2004,
scientists reported finding the gene
124 Pediatric conditions Hand notes
mutation (in the gene MECP2) are
present in 80% of people affected
with Rett's syndrome. In 2004, a
comprehensive review of research on
twins revealed that the interaction
between various genes may play a
role in the cause of autism. Several
neurological conditions such as
epilepsy, is usually found to
accompany this disorder.
Clinical Presentation
Signs and symptoms
Pervasive developmental
disorders symptoms can be seen
as early as the development of
early stage, the usual starting age
is the age of three. Although each
of the five with its own
symptoms, in general, the early
symptoms of a comprehensive
development disorders including
the following:
language listening skill
difficulties associated with
people, objects, or activities
unusual play
repetitive body movements or
behavior patterns
difficulty in handling changes in
routine or environment
unusual responses to sensory
stimuli, such as lighting and noise
The following are the most
common symptom of several
disorders overall development.
However, each child may
experience symptoms differently.
Signs of autism may include:
• Social interaction is not well
with others, including parents
* avoid making eye contact with
others, including parents
* failure to develop friends or
interact with other children
Do not communicate well
with others
Delayed or does not develop
language
Have echolalia (repeating words
or phrases repeatedly, like an
echo)
• demonstrate repetitive
behaviors
• is preoccupied, usually with
lights, moving objects, or parts
of objects
• do not like the sound
Signs of Asperger's disorder may
include:
• normal development of speech,
self-help skills, thinking skills
(cognitive development), and
curiosity about their environment
• difficulty with social
interaction, such as making
friends, sharing ideas, facial
expressions (smile), or eye
contact with others
125 Pediatric conditions Hand notes
Symptoms of Rett‘s disorder may
include:
• Growth of normal pregnancy,
birth, and newborn development
• normal growth and
development during the first 5-18
months of life
• normal head circumference at
birth
Signs of childhood
disintegrative disorder may
include:
• at least two years, and usually
up to four years, the normal
development including speech,
social interactions and
relationships, and play and
adaptive behavior
• within a short period (several
months), losses in social
function, communication and
behavioral skills occurs.
Without any obvious illness or
cause, children experiencing
disintegrative disorder become
nervous, angry, negative, and
disobedient with frequent
temper tantrums and outbursts
for no apparent reason. These
children have lost a complete
speech and language,
understanding language, and a
decrease in thinking (cognitive)
skills.
Investigation
Diagnosis
o Pervasive development disorders are
diagnosed using Diagnostic and
Statistical Manual of Mental
Disorder (DSM), which provide
criteria for physicians to diagnose a
certain type.
o Diagnosis of pervasive development
disorders is difficult because there is
no special test medicine, such as
blood tests or imaging tests that can
confirm the diagnosis. Some doctors
may hesitate to diagnose children
with certain types of pervasive
developmental disorder.
o Diagnosis of this disorder usually
require consultation and evaluation
by experts in child development
disorders, such as child psychiatrists,
pediatric neurologist,
neuropsychologist or development
child psychologist.
o The experts evaluate medical
laboratory tests, neurological tests,
and psychological tests; interview
parents and children, and observe
and evaluate behavior. Educational
skills test, communication
assessment and motor skills
assessment can be carried out.
o Medical tests can be done to push
other medical conditions, including
electroencephalography, MRI, and
blood tests.
o When the pervasive development
disorder is diagnosed, the diagnosis
must be narrowed to one of five
126 Pediatric conditions Hand notes
types, which is achieved by using
pre-established criteria of DSM,
which outlines the major differences
between the types.
o For example, for childhood
disintegrative disorder confirmed,
the symptoms must be preceded by
at least two years of normal
development and the beginning of
the decline and regression must
occur before the age of 10.
Treatment for Pervasive Development
Disorder
Specifically for PDD treatment will
be determined by your doctor based
on your child:
• your child's age, overall health, and
medical history the extent of disorder
type of disorder
Your child's tolerance for specific
therapy or medical expectations for
the course disorder
• your opinion or preference
Individual treatment plan based on
the symptoms of each child and the
severity. Multi-disciplinary approach
to treatment used to meet the
individual needs of each child.
Treatment includes:
speech therapy
occupational therapy
• social skills training (to help
children learn to perform activities of
daily living, or ADL, and how to
communicate and connect with
others)
• Behavioral therapy
Treatment:
Conventional
Treatment for children with
Pervasive Development Disorder
is limited.
The main treatment is through a
structured program of education
and very personal. Social skills
training and psychotherapy can
be helpful. Treatment may also
include physical and
occupational therapy.
There is no specific medication
for the PDD. When medications
are used it is to target specific
symptoms such as agitation,
emotional instability, and self-
injury.
Treatment:
Alternative
Here is a list of some commonly
used alternative treatment for
PDD. There are many good
anecdotes supporting the
technique, but they never
supported by any solid research.
Facilitate communication
This is a technique that
encourages people with
communication disabilities to
express themselves. A therapist
helps children spell words using
127 Pediatric conditions Hand notes
the keyboard. Children initiates
the movement while the therapist
provides physical support.
Sensory Integration Therapy
Therapy is directed towards
improving the sensory stimulus
of the children.
Lovaas Method
It was developed by psychologist
Ivar Lovaas at UCLA. It is an
intensive intervention program
for preschool age of autistic
children. It uses specific
techniques of behavior therapy.
Therapy usually consists of 4 to 6
hours a day of one on one of
training, 5 to 7 days a week.
About half the children involved
in this program to make
significant progress.
Vitamin Therapy
There are anecdotal reports that
vitamin B6 and magnesium help
children with autism. Both of
these nutrients involved in the
metabolism of serotonin.
References
http://www.utoronto.ca/kids/pdd.htm
l
http://addadhdadvances.com/PDD.ht
ml
http://www.humanillnesses.com/Beh
avioral-Health-Ob-Sea/Pervasive-
Developmental-Disorders.html
http://www.minddisorders.com/Ob-
Ps/Pervasive-developmental-
disorders.html
http://www.healthofchildren.com/P/P
ervasive-Developmental-
Disorders.html
http://medical-
dictionary.thefreedictionary.com/per
vasive+developmental+disorder
http://www.nichcy.org/wp-
content/uploads/docs/fs20.pdf
http://www.mamashealth.com/menta
l/pdd.asp
http://www.yalemedicalgroup.org/st
w/Page.asp?PageID=STW026935
128 Pediatric conditions Hand notes
Autism Spectrum Disorder
Introduction
1. The term autism spectrum describes
a range of neurodevelopmental
conditions, usually present from
early childhood and persisting
through life, which are associated
with difficulties in social
functioning, communication and
behaviour.
2. Autism spectrum conditions also
include Asperger Syndrome.
3. Most recent reviews estimate a
prevalence of one to two cases per
1000 people for autism, and about
six per 1000 for Autism Spectrum
Disorder, with Autism Spectrum
Disorder averaging a 4.3:1 male-to-
female ratio.
4. The number of people known to have
autism has increased dramatically
since the 1980s, at least partly due to
changes in diagnostic practice, the
question of whether actual
prevalence has increased is
unresolved.
5. Autism affects many parts of the
brain, how this occurs is poorly
understood.
6. Parents usually notice signs in the
first two years of their child's life.
Early behavioral or cognitive
intervention can help children gain
self-care, social, and communication
skills.
DEFINITION
1. Autism is a pervasive developmental
disorder. Its symptoms include
differences and disabilities in many
areas including social
communication skills, fine and gross
motor skills, and sometimes
intellectual skills. It appears in the
first 2 or 3 years of life.
2. The autism spectrum disorders are
more common in the pediatric
population than are some better
known disorders such as diabetes,
spinal bifida, or Down syndrome
3. All children with ASD demonstrate
deficits in social interaction, verbal
and nonverbal communication, and
repetitive behaviors or interests.
4. In addition, they will often have
unusual responses to sensory
experiences, such as certain sounds
or the way objects look.
5. Each of these symptoms runs the
gamut from mild to severe. They will
present in each individual child
differently.
6. For instance, a child may have little
trouble learning to read but exhibit
extremely poor social interaction.
Each child will display
communication, social, and
behavioral patterns that are
individual but fit into the overall
diagnosis of Autism Spectrum
Disorder (ASD).
129 Pediatric conditions Hand notes
Types
There are four main sub-types of autism
spectrum disorder
1. Autism, also known as autistic
disorder, childhood autism, early
infantile autism, Kanner‘s syndrome
or infantile psychosis.
2. Asperger syndrome, also known as
Asperger‘s disorder or simply
Asperger‘s.
3. Childhood Disintegrative Disorder,
also known as CDD, dementia
infantalis, disintegrative psychosis or
Heller‘s syndrome.
4. Pervasive Developmental Disorder
(Not Otherwise Specified), also
known as PDD (NOS) or atypical
autism.
Autism (Autistic Disorder)
1. Each person with autism is a unique
individual, with his or her own
strengths and weaknesses.
2. Some people with autism have
extremely good memories or are
good at paying attention to detail.
3. However most people with autism
also find it difficult to talk to other
people or to make friends. Some may
not even be able to talk at all.
4. People with autism tend to have poor
coordination and concentration and
they usually have a limited range of
interests. And they may do things or
say things over and over again.
5. Some people with autism have other
disabling conditions, such as a
learning disability or epilepsy.
Asperger syndrome
1. People with Asperger syndrome have
difficulties with social interactions,
social communications and
imagination – sometimes known as
the triad of impairments. They also
demonstrate a narrow, repetitive
range of activities.
2. However each person with Asperger
syndrome is a unique individual,
with his or her own strengths and
weaknesses.
Childhood Disintegrative Disorder
1. It is also known as CDD, dementia
infantalis, disintegrative psychosis or
Heller‘s syndrome.
2. Children with CDD appear to
develop normally until the age of
two.
3. After that they go backwards, losing
many of the skills they had before,
such as the ability to walk or talk.
4. They also share some of the
symptoms of people with autism. For
example, they may have difficulty
with social interaction,
communication, repetitive behaviors
or interests.
Pervasive Developmental Disorder (Not
Otherwise Specified)
1. It is used to describe people who
don‘t fit neatly into one of the
specific kinds of Autism Spectrum
Disorder, such
as Autism or Asperger syndrome
2. Individuals with this condition are
more likely to have other conditions
such as epilepsy.
130 Pediatric conditions Hand notes
3. There is no cure for this condition
but there are some interventions
which can help decrease the
symptoms.
4. There are also some interventions
which can help with related
problems, such as anxiety or self
harm.
Causes
Although autism is the result of a neurologic
abnormality, the cause of these problems
with the nervous system is unknown in most
cases. Research findings indicate a strong
genetic component. Most likely,
environmental, immunologic, and metabolic
factors also influence the development of the
disorder.
1. There is probably no single gene or
genetic defect that is responsible for
autism. Researchers suspect that
there are a number of different genes
that, when combined together,
increase the risk of getting autism.
2. In some children, autism is linked to
an underlying medical condition.
Examples include metabolic
disorders (untreated
phenylketonuria), congenital
infections (rubella, cytomegalovirus
,toxoplasmosis), genetic disorders
(fragile X syndrome, tuberous
sclerosis), developmental brain
abnormalities (microcephaly,
macrocephaly, cerebral dysgenesis),
and neurologic disorders acquired
after birth (lead
encephalopathy, bacterial
meningitis).
3. Environmental factors and
exposures may interact with genetic
factors to cause an increased risk of
autism in some families.
4. Emotional trauma: Some believed
that emotional trauma at an early
age, especially bad parenting, was to
blame.
5. Vaccines: Although the mercury
preservative used in
some vaccines is known to be
neurotoxic, the most recent research
on this subject does not suggest a
specific link between vaccines and
autism spectrum disorder.
Signs and symptoms
In both children and adults, the signs and
symptoms of the autism spectrum disorders
include problems with social skills, speech
and language, and restricted activities and
interests.
Social skills
Basic social interaction can be difficult for
children with autism spectrum disorders.
Symptoms may include:
Unusual or inappropriate body
language, gestures, and facial
expressions
Lack of interest in other people or
in sharing interests or
achievements
Unlikely to approach others or to
pursue social interaction, comes
across as aloof and detached,
prefers to be alone.
131 Pediatric conditions Hand notes
Difficulty understanding other
people‘s feelings, reactions, and
nonverbal cues.
Resistance to being touched.
Difficulty or failure to make
friends with children the same age.
Speech and language
Problems with speech and language
comprehension are a telltale sign of the
autism spectrum disorders. Symptoms may
include:
Delay in learning how to speak
(after the age of 2) or doesn‘t talk
at all.
Speaking in an abnormal tone of
voice, or with an odd rhythm or
pitch.
Repeating words or phrases over
and over without communicative
intent.
Trouble starting a conversation or
keeping it going.
Difficulty communicating needs
or desires.
Doesn‘t understand simple
statements or questions.
Taking what is said too literally,
missing humor, irony, and
sarcasm.
Restricted behavior and play
Children with autism spectrum disorders are
often restricted, rigid, and even obsessive in
their behaviors, activities, and interests.
Symptoms may include:
Repetitive body movements (hand
flapping, rocking, spinning);
moving constantly.
Obsessive attachment to unusual
objects (rubber bands, keys, light
switches).
Preoccupation with a specific
topic of interest, often involving
numbers or symbols (maps,
license plates, sports statistics).
A strong need for sameness, order,
and routines (e.g. lines up toys,
follows a rigid schedule). Gets
upset by change in their routine or
environment.
Clumsiness, abnormal posture, or
odd ways of moving.
Fascinated by spinning objects,
moving pieces, or parts of toys
(e.g. spinning the wheels on a race
car, instead of playing with the
whole car).
Investigation
There is no lab test or X-ray that can
confirm the diagnosis of autism. The
diagnosis of autism is based on clinical
judgment regarding observations of the
individual's behavior. Information from
family members and other observers is of
primary importance in making the diagnosis;
however, the pediatrician may order tests to
rule out other conditions that might be
confused with autism, such as mental
retardation, metabolic or genetic diseases, or
deafness.
A single visit with the pediatrician is not
enough to establish the diagnosis of autism
spectrum disorder.
1. The pediatrician observes the child
and may do a simple screening test
132 Pediatric conditions Hand notes
to see if a developmental problem
may be present. Screening tests do
not diagnose autism. Done in the
office, they are simple tests that
indicate a problem may exist. They
usually involve simply observing
specific behaviors (for very young
children) or how a child responds to
simple commands or questions (for
older children).
2. If the pediatrician believes that
further evaluation is necessary, he
or she will refer the child to a
professional who specializes in
developmental disorders. This
specialist may be a developmental
pediatrician, a child psychiatrist, a
pediatric neurologist, or a child
psychologist.
3. Other professionals, such as speech
and language pathologists,
audiologists (specialists in testing
hearing), occupational therapists,
physical therapists, and social
workers, may be involved in the
evaluation process.
4. The comprehensive evaluation of a
child with autism might include:
o obtaining complete medical and
family history
o physical exam
o formal audiology evaluation
o selected medical or lab tests on
an individual basis (for
example, lead levels, genetic
tests, metabolic tests,
electroencephalogram)
o speech, language, and
communication assessment
o cognitive and behavioral
assessments (focus on social
skills and relationships,
problem behaviors, motivation
and reinforcement, sensory
functioning, and self-
regulation)
o academic assessment
(educational functioning,
learning style).
Medical Management
A pediatrician will refer the caregiver and
the child to a specialist in developmental
disorders for the assessment. Some people
may want to have this specialist treat their
child's condition, but they are free to seek
treatment elsewhere.
There is no standard treatment for autism,
and different professionals have different
philosophies and practices in caring for
their patients.
You may want to talk to more than one
specialist to find the one with whom you
feel most comfortable.
Ask family members, friends, and the
health care practitioner to obtain referrals.
Call autism groups or check the Internet
for referral services.
When seeking a specialist to treat a child's
autism, the opportunity should be available
to ask questions and discuss the treatments
available to the child. Be aware of all the
options so that an informed decision can be
made.
A reputable specialist will present each
type of treatment, provide the pros and
cons, and make recommendations based
133 Pediatric conditions Hand notes
on published treatment guidelines and his
or her own experience.
The decision of which treatment to
pursue is made with this specialist (with
input from other members of the
professional care team) and family
members, but the decision is ultimately
the caregivers'.
Be certain to understand exactly what
will be done and why, and what can be
expected from the choices.
There is no cure for autism, nor is there a
standard therapy that works for all people
with autism. A number of different
treatment approaches have evolved over
time as we have learned more about autism.
Different approaches work for different
people. Accepted interventions may work
for some and not for others.
Different professionals, each with
excellent credentials and experience, may
disagree about what is the best approach
for the child.
Treatment strategies used in autism
spectrum disorder include behavioral,
educational, biomedical, and
complementary therapies. Some of these
are supported by scientific studies, while
others are not. It is important to discuss
and consider the research support for the
treatments chosen.
REFERENCES
1. http://www.researchautism.net/pages
/autism_autistic_asperger_spectrum/
autism_introduction
2. http://www.autism-help.org/
3. http://autism.about.com/od/autismter
ms/f/defautism.htm
4. http://www.nimh.nih.gov/health/publ
ications/autism/complete-
index.shtml
5. http://www.researchautism.net/autis
m.ikml
http://www.emedicinehealth.com/aut
ism/page2_em.htm#Autism Causes
6. http://www.helpguide.org/mental/aut
ism_spectrum.htm#signs
7.
http://www.emedicinehealth.com/aut
ism/page7_em.htm#Autism
Treatment
134 Pediatric conditions Hand notes
Attention deficit disorder
(ADD)
Definition
Attention deficit disorder (ADD) is a
biologically based condition causing a
persistent pattern of difficulties resulting in
one or more of the following behaviours :
1. Inattention
2. Hyperactivity
3. Impulsivity
Inattention
o Difficulty attending or focusing on a
specific task.
o May become distracted within a
matter of minutes.
o Difficulties with staying organized.
o Keeping track of time,completing
task and making careless error.
Hyperactivity
o Difficulty inhibiting behaviour.
o In constant motion.
o May engage in excessive fiddling,
leg swinging and squirming in their
chair.
Impulsivity
o Difficulty controlling impulse.
o Do not think before act.
o Say and do whatever comes into
mind without thinking about the
consequences.
o Might say something inappropriate
and regret it later.
o Difficulty waiting for their turn in
line.
Attention deficit disorder(ADD) is
sometimes known as hyperkinetic
disorder.
Types
There are 6 types of ADD :
1) ADDD(Inattentive ADD or
Attention Deficit Daydreaming
Disorder)
2) ADOD (Overfocussed ADD or
Attention Deficit Overfocussed
Disorder)
3) ADAD(Temporal Lobe ADD or
Attention Deficit Aggravated
Disorder)
4) ADLD(Limbic ADD or Attention
Deficit Low or Depressive Disorder)
5) ADAD++(Ring of fire ADD or
ATTENTION Deficit Aggravated++
Disorder)
6) Classic ADD
ADDD (INATTENTIVE ADD OR
ATTENTION DEFICIT DAYDREAMING
DISORDER)
Poor concentration .
Poor tendency to Daydreaming.
Present around 50% of females with
ADD but less in males.
Respond well to the Stimulants
Dexamphetamin,Ritalin,‖antidepress
ants‖-mirtazapine and fluvoxamine.
135 Pediatric conditions Hand notes
ADOD (OVERFOCUSSED ADD OR
ATTENTION DEFICIT OVERFOCUSSED
DISORDER)
Often focuses excessively on one
particular activity ,to the neglect of most
other things.
Feel distressed or irritable whenever
they have to give their attention from
what they are focussing on.
Responds well to stimulant type
―antidepressants‖-venlafaxine XR or
fluoxetine.
ADAD (TEMPORAL LOBE ADD OR
ATTENTION DEFICIT AGGRAVATED
DISORDER)
Special features include
irritability,anger,aggravation,rage
and violence.
Associated with a malfunction of 1
or both of temporal lobe of brain that
causes irritability.
Often associated with déjà vu(feeling
that they have been in places before
they really have been there).
Unusually poor memory.
ADLD (LIMBIC ADD OR ATTENTION
DEFICIT LOW OR DEPRESSION
DISORDER)
Moodliness,pessimism,recurring
negative thinking,low energy,low
interest and low self esteem.
Stimulant type‖antidepressants‖
work well-Noradrenalin and
dopamine.
ADAD++(RING OF FIRE ADD OR
ATTENTION DEFICIT
AGGRAVATED++ DISORDER)
Extreme
sensitivity,irritability,distractibility,a
ggravation,rage,aggression and
violence due to overactivity in
several parts of brain.
Patient very distressed.
Need immediate treatment with
anticonvulsant.
CLASSIC ADD
Inattentive
Distractible
Disorganized
Perhaps hyperactive
Restless
Impulsive
Clinical Presentation
Clinical presentation of ADD in adults
:
Fitgetiness and squirming, rarely
gross hyperavtivity and often
manifest.
Impulsivity.
Inattention for ―boring‖ activities.
136 Pediatric conditions Hand notes
Waking slowly and difficulty in the
morning unless unusually
challenged.
Falling asleep with difficulty until
overwhelmingly tired.
Spatial.
Emotional outburstwhich may
include child abuse, screaming or
hitting others.
Bedwetting is uncommon but can be
a problem for adults.
Unexplained severe and persistent
emotional negativity without obvious
cause.
Clinical presentation of ADD in
children :
Hyperactivity, fitgetiness or
squirming.
Impulsitivity(difficulty staying
focused on an immediate task).
Inattention for unexciting mental
activity.
Waking slowly especially in young
children.
Falling asleep slowly with difficult at
night.
Spatial dyslexia.
Episodic explosiveness(emotional
outburst).
Bedwetting due to primary nocturnal
enuresis.
Unexplained and unreasonable
emotional negativity.
Investigation
ADD SYMPTOMS-TREATMENT
A child must have conditions at least 6 of
the following symptoms for at least 3
months plus to extent that is unusual for
their age and level of intelligence.
Cannot pay attention to detail or
makes careless errors.
Cannot finish tasks or continue
paying attention in activities or
procedure.
Cannot concentrate to listen to what
is said to them.
Fails to follow through instructions
or to finish homework.
Disorganized about tasks and
activities.
Avoids tasks like homework that
require sustained mental effort or
long task.
Loses things unnecessary for certain
tasks or activities such as pencils,
books or toys.
Easily distracted from any activities.
Forgetful in the course of activities
or games.
ADD- ALTERNATIVE MEDICINE
ADD child must have conditions of at l
east 3 of the following symptoms for at least
3 months to an extent that is unusual for
their age.
137 Pediatric conditions Hand notes
Runs around, excessively climbs or
behave very busy all day long over
things they are always busy.
Making their own special noise in
playing ,or has difficulty in a quiet
leisure activities.
Leaves seat when classes is in
continue of teaching or in other
conditions where remaining seated is
normal.
Always busy with hands or feet or
squirms on seat.
One of the following symptoms must have
persisted at least for 3 months to an extent
that is unusual for their age and level of
intelligence:
Answered or speak before the
questions have been completed.
Cannot wait for their turns in games
or procedure.
Talks excessively without correct
conditions and situation.
Intrudes or likes to jump into others
conversation or games before their
turn.
Diagnosis
There is no single diagnosis test for ADD.
So,the information below need to be
gathered.
Medical history
Past psychiatric history
Educational history
MEDICAL HISTORY
Difficulties and risks in pregnancy
and during birth-if the mother was in
poor health or drank alcohol or
complicated labour.
Several medical conditions such as
fragile-X syndrome and fetal alcohol
syndrome.
Accidents,operation,cronic medical
conditions such as epilepsy and
asthma.
Overdose folic acid during
pregnancy.
PAST PHYCHIATRIC HISTORY
Enquiring any mental health
problems can help rule out
depression or anxiety behind the
symptoms.
EDUCATIONAL HISTORY
The level of their ability.
How their function within their peer
group.
Any behaviour difficulties such as
suspensions or exclusion.
Causes
ADD has a large genetic component.It
caused by a neuro-chemical disconnection
between 2 parts of the frontal lobes inside
the brain.Then,it affects the central nervous
system‘s development and cause impairment
in the ability to concentrate.
Cause of ADD :
138 Pediatric conditions Hand notes
1) ORGANIC BRAIN DAMAGE
2) GENETICS
3) ENVIRONMENTAL FACTORS
4) FAMILY FACTORS
ORGANIC BRAIN DAMAGE
Caused by injury,oxygen
deprivation, prenatal complication or
infection during birth.
Most children with ADD do not
show ‗hard‘ signs of brain damage.
Damage may only be the case in
10% or less of this population.
GENETICS
10% of ADD parents are hyperactive
and monozygotic twins.
Parents have a higher correlation of
them both exhibiting the disorder
dizygotic twins.
ENVIRONMENTAL FACTORS
Artificial colours in various food
stuffs.
Lead levels in the atmosphere.
Environmental pollution.
Fluorescent light levels have all been
implicated.
FAMILY FACTORS
Mothers of children with ADD tend
to be critical,disapproving,not
affectionate and may use severe
punishment.
The family not giving any
opportunity to process and
manipulate environmental stimuli for
the children(at an early stage)
Medical Management
Treatment of ADD is not curable. The best
treatment for ADD is a combination of :
Medication.
Behaviour modification strategies.
Professional counselling.
Drug therapy is an important component of
treating ADD.
A class of drug called psychostimulants or
stimulants have been used to effectively
treat ADD for years.
Stimulant drugs to treat ADD include :
o Adderall and Adderall XR.
o Concerta.
o Dexedrine.
o Focalin and Focalin XR.
o Metadate CD and Metadate ER.
o Methylin.
o Ritalin,Ritalin LA.
o Vyvanse.
o Desoxyn.
NOTE THAT: Adderall XR, Concerta,
Vyvanse and Focalin XR are FDA-approved
for adults.
Nonstimulant Drugs.
139 Pediatric conditions Hand notes
In cases where stimulants don‘t work or cause
unpleasant side effects,nonstimulants might
help. Types of nonstimulants drugs :
o Strattera.
o Intuniv.
Both medication improve concentration and
impulse control.
When stimulant and nonstimulants are not
effective or well-tolerated,several other
medications are available to treat ADD
which are :
o Pamelar or other tricyclic
antidepressants.
o Catapres or Tenex.
o Wellbutrin.
o Effexor.
Conclusion
In conclusion, Attention Deficit Disorder
provides many blessings as well as the
difficulties mentioned. It tends toward
creativity and is unique problem solvers.
The greatest intervention of all that an
authority figure can provide is that of role
modelling.For instance, telling the child
where and how they plan to channel it
constructively. ADD is not a curse, it is a
blessing in that it encourages all of us to
think about our motivations. Sharing of
the self is the most precious gift of all.
REFERENCES
http://www.add101.com/types.htm
http://www.Idpride.net/addexplained.htm
http://phychcentral.com/lib2007
http://www.addmtc.com/clinical
http://add.about.com
http://www.webmd.com/add
Thomas E. Brown (2005): Attention Deficit
Disorder: The Unfocused Mind in Children
and Adults. Yale University Press.
140 Pediatric conditions Hand notes
Attention Deficit
Hyperactivity Disorder
(ADHD)
Definition
Attention deficit hyperactivity
disorder (ADHD) is one of the most
childhood chronic disorders and can
continue through adolescent and adulthood.
It is categorized as developmentally
inappropriate with abnormally high levels of
hyperactivity, impulsivity and inattentive.
ADHD behaviors are hard to separate from
typical childhood behaviors. These
symptoms will lead to difficulty in social
participation, academic and emotional.
After a diagnosis is done, ADHD
may be associated with neurological,
learning disabilities and significant
behavioral. A therapist also may suggests
the use of medication, behavioral therapy
and modifications in their daily life
activities. ADHD once considered an acute
disorder has been reconceptualized as a
chronic, life-spanning disorder (American
Academy of Pediatrics, 2001).
Types Of ADHD
ADHD has three subtypes. One of
them is predominantly inattentive.
Children with this subtype are unlikely to
act out or have difficulties getting along
with other children. They may sit quietly,
but they are not focusing to what they are
doing. Therefore, the child may be
overlooked, but parents and teachers may
not notice that he or she has ADHD.
Other types are predominantly
hyperactive and impulsive and also
combination of the two types stated before.
Predominantly hyperactive and impulsive,
we can classified it when fewer than six
symptoms appear, inattention may still be
present in some degree. Most children have
combination type of ADHD.
Some medical researchers find that
40% to 60% of ADHD children will have
symptoms persist into adulthood. Children
when they are diagnosed as ADHD, they
must be out of the normal range for a child's
age and development.
Causes
The cause of ADHD has not been
fully defined by scientists, though many
research considered that genes play a large
role, ADHD probably results from a
combination factors.
One of the causes is genes. Based
on some international studies of identical
twins and siblings showed that ADHD
always occur in families. If one identical
twin is diagnosed with ADHD, there is at
92% probability of diagnosis with the twin
sibling. When comparing with non-identical
twin sibling, the probability falls to 33%.
Overall population incidence is 8% to 10%
ADHD children who carry a specific type of
certain gene, have thinner brain tissue in the
areas of the brain related with attention.
However, when the children grow up, the
141 Pediatric conditions Hand notes
brain will develop into the normal thickness
and their ADHD symptoms will improve.
Besides, the cause of ADHD is
environmental factor. There is a potential
link between cigarette smoking and alcohol
or drugs use during pregnancy with ADHD
in children. Alcohol and drug abuse will
reduce the activity of neurons that produce
neurotransmitters. Plus, preschoolers may
have a high risk of developing ADHD when
they are exposed to high level of leads
which can be found in old building or
plumbing fixtures.
Other than that, sugar is the cause
of developing ADHD among children. More
research discounts the theory than supports
it which state that refined sugar make
symptoms worse. In a study, the researchers
gave the sugar substitute aspartame,
Nutrasweet to the children who were
considered by their mother as sugar-
sensitive. The mothers who thought their
children were given sugar found that their
children more hyperactive than others.
However, the mothers who thought their
children were given aspartame found that
their children act normally. Although sugar
is the popular factor in causing ADHD, there
is no reliable proof of this.
Furthermore, the food additives
also is one of the factor of developing
ADHD. Food additives are the substances
added to the food to make it more attractive
and tasty such as artificial coloring and food
preservatives. Based on recent British
research, they found that there has a relation
between the intake of food additives and the
increase in activity.
Brain injuries also related to
ADHD, but this has not been conclusively
confirmed by the researchers. Children who
have a brain injury may show some
behaviors similar to ADHD. However, only
minority of the children with ADHD
suffered a traumatic brain inj
Symptoms Of ADHD
Key behaviors of ADHD are severe
inattention, hyperactive and impulsive in the
children. To be confirmed with the disorder,
a child must have symptoms for six more
months and to a degree that is over than
other children of the same age.
Children who have symptoms
in inattention may:
1. Be easily distracted, forget
things, and often switch from
one activity to another
2. Difficult to focus on one
thing.
3. The child always fails to give
attention to details or makes
careless mistakes in school
works and other activities.
4. Difficult to organize tasks
and activities.
5. Easily feel bored only in a
few minutes, unless they are
doing something enjoyable.
6. Does not seem to listen when
spoken directly.
7. Dislikes tasks that require
sustained mental effort such
as school works.
8. Does not follow through on
instruction
142 Pediatric conditions Hand notes
9. Become easily confused,
more slowly and daydream.
10. Hard to process data as
accurately and quickly as
others.
Symptoms of hyperactivity.
1. Squirm and fidgets in
their seats.
2. Be constantly in
motion.
3. Has difficulty in
playing quietly.
4. Leaves seat when
remaining seated is
expected.
5. Often runs and climbs
excessively in an
inappropriate
situation.
Children who have symptoms
of impulsivity may:
1. Difficult in awaiting
turn.
2. Always be in
impatient.
3. The child frequently
blurts out answers
before questions have
been completed.
4. Intrudes and
interrupts others.
ADHD can be mistaken for other
problems by parents and teachers. They can
miss the fact that the children who have
symptoms of inattention have ADHD
because they are less likely to act out and
quiet. Actually, the children are not focusing
on what they are doing compared to others
who tend to have social problems. However,
not the only children with symptoms of
inattention can be missed out, but adults also
may think the children with the impulsive
and hyperactive behaviors just have
disciplinary and emotional problems.
Signs and Tests
The American Academy of Pediatrics
(AAP) has issued guidelines to diagnose the
children who are labeled with ADHD. The
diagnosis is based on very specific
symptoms:
1. The children should have at least six
symptoms of inattention or six of
combination of impulsivity and
hyperactivity, with some symptoms
present before age seven.
2. The symptoms must be present for at
least six months.
3. The symptoms must be severe
enough to cause significant
difficulties in home, school, and in
relationships with friends.
The older child should have an evaluation
by a doctor if the symptoms of ADHD are
present. The evaluation is including:
1. Parent and teacher questionnaires.
2. Psychological evaluation of the child
and family including psychological
and IQ testing.
3. Complete developmental, mental,
physical and psychosocial
examination, and nutritional.
143 Pediatric conditions Hand notes
HOW ADHD IS DIAGNOSED?
Normally pediatrician and specialist will
determine if a child:
1. Has any infected middle ear that is
causing hearing problems?
2. Has any learning disabilities?
3. Has any medical problems related to
thinking abilities and behavior?
4. Has anxiety or depression or other
psychiatric problems?
5. Has any undetected hearing vision
problems?
6. Has been affected by a sudden
change like the death of a family
member?
Specialists also will ask the parents or
teachers to gather the information about the
children after have checked school and
medical records for clues.
1. Are the behaviors excessive and long
term, and do they affect all aspects of
child‘s life?
2. Do they happen often in this child
compared with their friends?
3. Are their behaviors a continuous
problem or response in a temporary
situation?
4. Do the behaviors appear in certain
places or only in one place?
Common Associated Features Of ADHD
1. Defiant, aggressive, and antisocial
behaviors.
2. Problems with social relationships.
3. IQ under 100 in majority of the
children.
4. Specific learning problem such as
spelling and reading.
5. A history of specific developmental
delay like in language acquisition.
6. Clumsiness and neurodevelopmental
immaturities.
Treatment/Medical Management
There are guidelines produced by American
Academy of Pediatrics (AAP), to treat
ADHD:
1. Set specific, appropriate target
goals for therapy.
2. Use medication and behavior
therapy.
3. When treatment has not achieved
the target goals, reevaluate the
diagnosis and how well the
treatment plan has been
implemented.
4. Always keep in touch with the
doctor to check on goals, results,
and any side effects of
medications. During the
assessment, information should be
gathered from parents, teachers,
and the child.
EDUCATION
The family and school should
explain more about the nature
of disorder to the children.
Children with ADHD,
normally, often come in
criticism and little praise.
However, it does not the
parents or the children‘s
fault. As parents, they should
144 Pediatric conditions Hand notes
be clear about their children‘s
unacceptable behaviors.
Both, teachers and parents
should reduce the chances of
child acquiring a behavioral
disorder as a key objective of
the treatment. All teaching
medium must follow up the
child‘s limited attention span
because they need special
learning unlike the other
normal kids.
MEDICATION
The popular type of
medication used for treating
ADHD is called a stimulant.
For majority of children,
ADHD medications reduce
hyperactivity and impulsivity
and improve their ability to
focus, work, and learn
besides may improve
physical coordination. The
age approved for the use of
drugs is 3-6 years and older.
They also have a calming
effect on children with
ADHD. The
psychostimulants used to
treat ADHD are:
- Amphethaine-
dextroamphetamine
(Adderall)
- Dexmethylphenidate
(Focalin)
- Dextroamphetamine
(Dexedrine, Dextrostat)
- Lisdexamfetamine
(Vyvanse)
- Methylphenidate (Ritalin,
Concerta, Metadate,
Daytrana)
- Atomexetine (Straterra)
The side effects of the usage
of stimulants are decreased
appetite, sleep problems,
anxiety, and irritability. Some
children also report
temporary stomachaches or
headaches. Most side effects
are minor and disappear over
time or if the dosage level is
lowered.
PSYCHOTHERAPY
Also known as behavioral
therapy, aims to help a child
change his behavior. Assists
the child in organizing tasks
or completing homework,
controlling the emotionally
difficult event, and help him
how to monitor his own
behavior. Therapists would
teach children social skills,
such as how to wait their
turn, share toys, ask for help,
or respond to teasing. For
parents, these are the tips to
help your child with ADHD:
a. Often communicate with the
child's teacher.
b. Keep a consistent daily
schedule, including regular
times for homework, meals,
and outdoor activities.
c. Make sure the child gets a
healthy diet with plenty of
fiber and basic nutrients.
145 Pediatric conditions Hand notes
d. Make sure the child gets
enough sleep.
e. Praise and reward their good
behavior.
f. Provide clear and consistent
rules for the child.
DIET
Parents must aware with their
child‘s diet. Do not give them
too much junk foods, sweets
and other creamy or sugar-
based product when they are
young. If not, their level of
hyperactivity will increase.
Additives are rarely the only
culprits; one or more natural
foods, such as milk and
wheat products or oranges,
are usually involved as well.
146 Pediatric conditions Hand notes
Conduct Disorder (CD)
Definition
Conduct disorder (CD) is a behavioral and
emotional disorder of childhood and
adolescence. Children with conduct disorder
act inappropriately, infringe on the rights of
others, and violate the behavioral
expectations of others. Conduct disorder
involves long-term (chronic) behavioral
problem.
Types
There are two types of conduct disorder:
Childhood onset
Prior to age 10
More likely to be male, few
girls develop childhood onset
Violent, more severely
impaired.
Adolescent onset
After age 10
More destructive
More even gender
distribution
Less severely impaired
Causes
This disease may be caused by the
following:
Poor parent-child relationship
The child maybe in little contact with
his/her parent. The parents maybe
too busy until neglected their
children. A disharmony family may
lead to poor parent-child
relationships.
Dysfunctional family
A dysfunctional home environment
can be another major contributor to
CD. An emotionally, physically or
sexually abusive home environment,
or parental substance abuse can
damage a child‘s perceptions of
himself and put him on a path toward
negative behavior.
Drug abuse or alcoholism in parents
Maternal smoking during pregnancy
may be linked to the development of
CD in boys. Animal and human
studies point out that nicotine can
have undesirable effects on babies.
Physical abuse
Children that physically abuse may
causes to CD.
Brain damage
Other conditions that may cause or
co-exist with CD include head
injury. When there are serious
problems during pregnancy, delivery
and the postnatal period.
Genetic defects
A family history of antisocial
personality disorder.
Clinical Presentation
Signs and symptoms
A physical examination and blood tests can
help rule out medical conditions that are
similar to conduct disorder.
Conduct disorder is often associated
with attention deficit disorder.
147 Pediatric conditions Hand notes
CD also can be an early sign of
depression or bipolar disorder.
Children with conduct disorder tend to be
impulsive, hard to control and not concerned
about the feelings of other people.
Symptoms may include:
Breaking rules without obvious
reason
Cruel or aggressive behavior toward
people or animals. For example:
bullying, fighting, using dangerous
weapons, forcing sexual activity and
stealing.
Failure to attend school (truancy-
beginning before age 13)
Heavy drinking or heavy illicit drug
use.
Intentionally setting fires
Lying to get a favor or avoid things
they have to do
Running away
Vandalizing or destroying property.
Children who exhibit these behaviors should
receive a comprehensive evaluation.
Many children with a conduct disorder may
have coexisting conditions such as mood
disorders, anxiety, PTSD, substance abuse,
ADHD, learning problems or thought
disorders which can also be treated.
Investigation
See your health care provider if your child:
Regularly gets in trouble
Has mood swings
Is bullying others or cruel to animals
Is being victimized
Seems to be overly aggressive
PROGNOSIS
Children who have severe of
frequent symptoms tend to have the
poorest outlook.
Follow-up studies of conduct
disordered children have shown a
high incidence of antisocial
personality disorder, affective
illnesses and chronic criminal
behavior later in life.
Treatment usually begins with a
comprehensive evaluation. This will include
a detailed medical history and psychological
testing.
A combination of treatment methods seems
more effective than single treatment.
Medical Management
Diagnosis
Conduct disorder is diagnosed and
treated by a number of social
workers, school counsellors,
psychiatrics and psychologists.
Genvine diagnosis may require
psychiatric expertise to rule out
conditions such as bipolar disorder
or ADHD.
A comprehensive evaluation of the
child should include interviews with
148 Pediatric conditions Hand notes
the child and parents, a full social
and medical history, a cognitive
evaluation and a psychiatric exam.
One or more clinical inventories or
scales may be used to assess the
child for conduct disorder.
Treatment
Parent management training
Many times treatment for conduct
disorder is family-focused. When
parents can participate fully, this
method helps parents to encourage
appropriate behaviors in their
children. Once the parent child
relationship smoothes out, many
children are better able to improve
their social and academic worlds in a
more productive manner.
Family therapy
Help families learn less defensive
ways of communicating with each
other. It can foster mutual support
and more effective problem solving
and conflict resolution within the
family.
Social skills training
This training is to enhance their
problem solving abilities. A child
can learn to identify problems,
recognize causation, appreciate
consequences and consider alternate
ways of handling difficult situations.
Individual psychotherapy
The youngster with conduct disorder
symptoms may be helped in figuring
out why he does what he does. As
the child grows older, the clinician
helps the child better understand his
motions and actions and how to deal
with both.
Medication
Lithium, a mood stabilizer, and
anticonulsants have also been shown
to reduce impulsive aggression.
Prevention
A supportive, nurturing and
structured home environment
is believed to be the best
defence against conduct
disorder.
Children with learning
disabilities or difficulties in
school should get immediate
and appropriate academic
assistance.
Addressing these problems
when they first appear helps
to prevent the frustration and
low self-esteem that may lead
to conduct disorder later on.
149 Pediatric conditions Hand notes
References
1. Nurcombe B. Oppositional defiant
disorder and conduct disorder. In
:Ebert MH, Loosen PT, Nurcombe
B, Leckman JF, eds. Current
Diagnosis & Treatment Psychiatric
2nd
ed. New York: McGraw Hill.
2. Thomas CR. Evidence-based practise
for conduct disorder symptoms. J
Am Acad Child Adolesc Psychiatric.
2006: 45: 109-114.
3. Whittinger NS. Clinical precursors
of adolescent conduct disorder in
children with attention-deficit /
hyperactivity disorder. J Am Acad
Child Adolesc psychiatric. 2007; 46:
179-187.
4. www.ncbi.nlm.nih.gov/pubmedhealt
h
5. http://emedicine.medscape.com
6. http://en.wikipedia.org/wiki/Conduct
_disorder
7. http://www.nmha.org/go/conduct
disorder
150 Pediatric conditions Hand notes
Learning Disabilities
Definition
sometimes called a learning
disorder or learning difficulty
including several disorders in which a
person has difficulty learning in a typical
manner
usually caused by an unknown factor or
factors that affects the brain's ability to
receive and process information
problematic for a person to learn as quickly
A child with a learning disability cannot try
harder, pay closer attention, or improve
motivation on their own; they need help to
learn how to do those things
Types of Learning Disabilities
Academic Skills Disorders
Reading disorder
Of all students with specific learning
disabilities, 70%-80% have deficits in
reading.
The term "Developmental Dyslexia" is often
used as a synonym for reading disability;
can affect any part of the reading process,
including difficulty with accurate or fluent
word recognition, or both, word decoding,
reading rate, prosody (oral reading with
expression), and reading comprehension.
used to be known as "word blindness."
phonemic awareness—the ability to break
up words into their component sounds, and
difficulty with matching letter combinations
to specific sounds (sound-symbol
correspondence).
Writing disorder
can also be called Dysphasia/Aphasia
include impairments in handwriting,
spelling, organization of ideas, and
composition.
The term "dysgraphia" is often used as an
overarching term for all disorders of written
expression.
Math disability
Sometimes called dyscalculia
can cause difficulties such as learning math
concepts (such as quantity, place value, and
time), difficulty memorizing math facts,
difficulty organizing numbers, and
understanding how problems are organized
on the page.
Dyscalculics are often referred to as having
poor "number sense".
Auditory processing disorder
Difficulties processing auditory information
include difficulty comprehending more than
one task at a time and a relatively stronger
ability to learn visually.
Developmental Speech and Language
Disorders
Nonverbal learning disability
often manifest in motor clumsiness, poor
visual-spatial skills, problematic social
151 Pediatric conditions Hand notes
relationships, difficulty with math, and poor
organizational skills.
often have specific strengths in the verbal
domains, including early speech, large
vocabulary, early reading and spelling skills,
excellent rote-memory and auditory
retention, and eloquent self-expression.
Developmental Articulation Disorder
may have trouble controlling their rate of
speech.
Or they may lag behind playmates in
learning to make speech sounds.
For example, Wallace at age 6 still said
"wabbit" instead of "rabbit" and "thwim" for
"swim."
They appear in at least 10 percent of
children younger than age 8.
Articulation disorders can often be outgrown
or successfully treated with speech therapy.
Developmental Receptive Language
Disorder
Some people have trouble understanding
certain aspects of speech.
their brains are set to a different frequency
and the reception is poor.
Their hearing is fine, but they can't make
sense of certain sounds, words, or sentences
they hear.
many people with receptive language
disorders also have an expressive language
disability.
"Other" Learning Disabilities
Attention Disorders
Some children and adults who have attention
disorders appear to daydream excessively.
In a large proportion of affected children--
mostly boys--the attention deficit is
accompanied by hyperactivity.
These problems are usually hard to miss
because of their constant motion and
explosive energy, hyperactive children often
get into trouble with parents, teachers, and
peers.
Causes
Errors in Fetal Brain Development
· Throughout pregnancy, the brain
development is vulnerable to disruptions.
· If the disruption occurs early, the
fetus may die, or the infant may be born
with widespread disabilities and possibly
mental retardation.
· If the disruption occurs later, when
the cells are becoming specialized and
moving into place, it may leave errors in the
cell makeup, location, or connections.
Genetic Factors
· Learning disabilities tend to run in
families indicates that there may be a
genetic link.
· Parent who has a writing disorder
may have a child with an expressive
language disorder.
· Some learning difficulties may
actually stem from the family environment.
· For example, parents who have
expressive language disorders might talk
less to their children. In such cases, the child
lacks a good model for acquiring language.
152 Pediatric conditions Hand notes
Tobacco, Alcohol, and Other Drug Use
· A mother's use of cigarettes, alcohol,
or other drugs during pregnancy may have
damaging effects on the unborn child.
· Alcohol also may be dangerous to the
fetus' developing brain. It appears that
alcohol may distort the developing neurons.
· Heavy alcohol use during pregnancy
has been linked to fetal alcohol syndrome, a
condition that can lead to low birth weigh,
intellectual impairment, hyperactivity, and
certain physical defects.
· Any alcohol use during pregnancy
may influence the child's development
· Drugs such as cocaine, especially in
its smokable form known as crack, seem to
affect the normal development of brain
receptors.
Problems During Pregnancy or Delivery
· Involve complications during
pregnancy.
· This type of disruption seems to cause
newly formed brain cells to settle in the
wrong part of the brain.
· Or during delivery, the umbilical cord
may become twisted and temporarily cut off
oxygen to the fetus.
Clinical Investigation
The symptoms and signs of a learning
disabilities
Motor difficulties and learning disabilities
Signs that the child might have a motor
coordination disability include problems
with physical abilities that require hand–eye
coordination, like holding a pencil or
buttoning a shirt.
Math difficulties and learning disabilities
A child with a math–based learning disorder
may struggle with memorization and
organization of numbers, operation signs,
and number ―facts‖ (like 5+5=10 or
5x5=25).
might also have trouble with counting
principles (such as counting by 2s or
counting by 5s) or have difficulty telling
time.
Language difficulties and learning
disabilities
Signs of a language–based learning disorder
involve problems with verbal language
skills, such as the ability to retell a story and
the fluency of speech, as well as the ability
to understand the meaning of words, parts of
speech and direction.
Reading difficulties and learning
disabilities
Reading comprehension problems occur
when there is an inability to grasp the
meaning of words, phrases, and paragraphs.
Signs of reading difficulty include problems
with:
letter and word recognition
understanding words and ideas
reading speed and fluency
general vocabulary skills
Writing difficulties and learning
disabilities
153 Pediatric conditions Hand notes
Symptoms of a written language learning
disability revolve around the act of writing
and include. They include problems with:
neatness and consistency of writing
accurately copying letters and words
spelling consistency
writing organization and coherence
Auditory Processing Disorder
Problems with reading, comprehension,
language
Visual Processing Disorder
Problems with reading, math, maps, charts,
symbols, pictures
Other characteristics that may be present
Performs differently from day to day
Responds inappropriately in many instances
Distractible, restless, impulsive
Says one thing, means another
Difficult to discipline
Doesn‘t adjust well to change
Difficulty listening and remembering
Difficulty telling time and knowing right
from left
Difficulty sounding out words
Reverses letters
Places letters in incorrect sequence
Difficulty understanding words or concepts
Delayed speech development; immature
speech
Investigation
The first step in diagnosing a learning
disability is ruling out vision or hearing
problems.
A person may then work with a psychologist
or learning specialist who will use specific
tests to help diagnose the disability.
Often, these can help pinpoint that person's
learning strengths and weaknesses in
addition to revealing a particular learning
disability.
Specialists trained to do psychological
testing and result interpretation
· Clinical psychologist
· School psychologist
· Educational psychologist
· Developmental psychologist
· Neuropsychologist
· Psychometrist
· Occupational therapist (tests sensory
disorders that can lead to learning problems)
· Speech and language therapist
Diagnosis
IQ-Achievement Discrepancy
· often identified by school
psychologists, clinical psychologists,
and neuropsychologists through a
combination of intelligence testing,
academic achievement testing, classroom
performance, and social interaction and
aptitude.
154 Pediatric conditions Hand notes
· Other areas of assessment may
include perception, cognition, memory,
attention, and language abilities.
· is used to determine whether a child's
academic performance is commensurate
with his or her cognitive ability.
· If a child's cognitive ability is much
higher than his or her academic
performance, the student is often diagnosed
with a learning disability.
Response to Intervention (RTI)
· a treatment-oriented diagnostic
process known as response to
intervention (RTI).
· Their performance can be closely
monitored to determine whether increasingly
intense intervention results in adequate
progress.
· Those who respond will not require
further intervention.
· Those who do not respond adequately
to regular classroom instruction are
considered "nonresponders."
· The process does not take into
account children's individual
neuropsychological factors such as
phonological awareness and memory, that
can help design instruction.
· RTI by design takes considerably
longer than established techniques, often
many months to find an appropriate tier of
intervention.
· it requires a strong intervention
program before students can be identified
with a learning disability.
· RTI is considered a regular education
initiative and is not driven by psychologists,
reading specialists, or special educators.
Assessment
· The most commonly used
comprehensive achievement tests include
o the Woodcock-Johnson III (WJ III),
o Weschler Individual Achievement Test II
(WIAT II)
o the Wide Range Achievement Test III
(WRAT III)
o the Stanford Achievement Test–10th
edition
· Assessments that measure multiple
domains of reading include
o Gray's Diagnostic Reading Tests–2nd
edition (GDRT II)
o the Stanford Diagnostic Reading
Assessment.
Assessments that measure reading sub skills
include
the Gray Oral Reading Test IV – Fourth
Edition (GORT IV)
Gray Silent Reading Test,
Comprehensive Test of Phonological
Processing (CTOPP)
Tests of Oral Reading and Comprehension
Skills (TORCS)
155 Pediatric conditions Hand notes
Test of Reading Comprehension 3 (TORC-
3)
Test of Word Reading Efficiency (TOWRE)
the Test of Reading Fluency
· The purpose of assessment is to
determine what is needed for intervention,
which also requires consideration of
contextual variables and whether there are
comorbid disorders that must also be
identified and treated, such as behavioural
issues or language delays.
Medical Management
1) Ritalin (methylphenidate), Dexedrine
(dextroamphetamine), and Cylert
(pemoline)
stimulants in the same category as "speed"
and "diet pills," they seldom make children
"high" or jitterier.
temporarily improve children's attention and
ability to focus
help children control their impulsiveness
and other hyperactive behaviors.
Shortly after taking the medication, they
become more able to focus their attention.
They become more ready to learn.
effective for 3 to 4 hours and move out of
the body within 12 hours.
2) Types of therapy that have not proven
effective in treating the majority of
children with learning disabilities or
attention disorders:
Megavitamins
Coloured lenses
Special diets
Sugar-free diets
Body stimulation or manipulation
3) Special equipment
Word processors with spell checkers and
dictionaries
Text-to-speech and speech-to-text programs
Talking calculators
Books on tape
4) Special Education
Prescribed hours in a resource room
Placement in a resource room
Enrollment in a special school for learning
disabled students
Individual Education Plan (IEP)
Educational therapy
5) Meet an Occupational therapy
Conclusion
Prognosis of learning disabilities
Learning disabilities can be lifelong
conditions.
In some people, several overlapping learning
disabilities may be apparent. Other people
may have a single, isolated learning problem
that has little impact on their lives.
References
http://www.medicinenet.com/learning_disab
ility/article.htm#tocb
http://www.helpguide.org/mental/learning_d
isabilities.htm
156 Pediatric conditions Hand notes
http://www.ldanatl.org/aboutld/teachers/und
erstanding/symptoms.asp
http://www.learninginfo.org/causes-
learning-disabilities.htm
www.learning-disabilities.org/learn3.html
http://en.wikipedia.org/wiki/Learning_disabi
lity
Lerner, Janet W. (2000). Learning
disabilities: theories, diagnosis, and
teaching strategies. Boston: Houghton
Mifflin. ISBN 0395961149.
Aaron, P.G. (1995). "Differential Diagnosis
of Reading Disabilities.". School Psychology
Review24 (3): 345–60. ISSN 0279-6015.
Patti L. Harrison; Flanagan, Dawn P.
(2005). Contemporary intellectual
assessment: theories, tests, and issues. New
York: Guilford Press. ISBN 1-59385-125-1.
Marcia A. Barnes; Fletcher, Jack; Fuchs,
Lynn (2007). Learning Disabilities: From
Identification to Intervention. New York:
The Guilford Press. ISBN 1-59385-370-X.
Finn, C.E., Rotherham A.J. & Hokanson
C.R. (2001). Rethinking Special Education
For A New Century. Progressive Policy
Institute
http://kidshealth.org/teen/diseases_condition
s/learning/learning_disabilities.html
1 Attached files|88KB
157 Pediatric conditions Hand notes
CHILDREN WITH
SENSORY DEFICIT
Deafness
DEFINITION
Partially or completely lacking in the
sense of hearing or loss the ability to
detect certain frequencies of sound.
Deafness can occur in only one ear
or both ears.
There are three primary types of
hearing loss:
Conductive hearing loss-
hearing loss caused by the
inability of the sound to reach
the inner ear. This can result
from outer or middle ear
problems such as ear
infection, excess wax or
swelling. This type of hearing
loss is most likely to respond
to medical or surgical
treatment.
Sensorineural hearing loss-
hearing loss caused by
disorders of the inner ear or
auditory nerve. This type of
loss is usually permanent. It
can be caused by hereditary
or congenital problems,
excess noise, old age,
medications, infections, such
as ear infections and
meningitis or from tumors
compressing the nerve of
hearing such as an acoustic
neuroma.
Mixed hearing loss- hearing
losses that are a combination
of both conductive and
sensorineural loss.
LEVEL OF HEARING LOSS
Mild deafness: 20-40 db
Moderate deafness: 41-70 db
Severe deafness: 71-95 db
Profound deafness: 95 db
PREVELANCE
Hearing loss occurs in approximately
1/2000 in live births.
Children who have hearing loss with
addition disability occur in
approximately 30/100.
CAUSES OF DEAFNESS
Genetic causes- may or may not be
part of a recognized genetic
syndrome such as Turner’s syndrome
and Klinefelter’s syndrome.
Intrauterine- congenital infections
such as rubella, toxoplasmosis and
maternal drugs such as alcohol,
cocaine and streptomycin and also
ototoxic drugs (medications that
damage ears) such as aspirin, quinine
and antibiotics.
Prenatal causes- prematurity or low
birth weight, low Apgar scores, birth
158 Pediatric conditions Hand notes
asphyxia, severe
hyperbilirubinaemia, and sepsis.
Postnatal causes- assisted
ventilation, severe jaundice, mumps
and childhood infections such as
meningitis, encephalitis, head injury,
syphilis and otitis media.
Unknown causes- no definite
unknown aetiology.
Nose or throat problems- nasal
allergies, sinus problems and
blockage of the eustachian tube.
Ear disorders- otosclerosis and
meniere’s disease.
Tumors- ear and brain
(hydrocephalus).
Neurological disorder- multiple
sclerosis and stroke.
Hypothyrodism (underactive
thyroid).
SIGN AND SYMPTOM
Symptoms of deafness in infants:
1-4 months- lack of response
to sounds or voices.
4-8 months- disinterest in
musical toys and lack of
verbalization such as
babbling, cooing and aking
sounds.
8-12 months- lack of
recognition of child‘s own
name.
12-16 months- lack of
speech.
Signs of deafness in child or infants:
don‘t respond to things said
to them, or don‘t seem to
notice that you have spoken
to them.
ask you to repeat things
(more for older children than
infants).
need to search right and left
to find the voice or sound.
start talking later than
children the same age.
can‘t say words and
sentences the right way.
have difficulty hearing one
voice when several people
are talking.
miss quick or soft sounds.
are performing poorly at
school.
Common behaviour in children with
hearing loss:
Sad - because they don‘t
understand why people shout
at them
Angry and frustrated - at not
being able to hear or
communicate
Shy - particularly around
people they don‘t know,
because they can‘t
understand everything they
say.
Quiet and withdrawn at
school - if they can‘t hear the
teacher well or follow
instructions
Exhaustion - hearing takes a
lot of energy. Children with a
hearing loss are often
159 Pediatric conditions Hand notes
exhausted by the end of the
day.
Misbehaved - a behavioural
problem can sometimes mask
a hearing loss in children.
Often behavioural problems
result from frustration at not
hearing correctly.
INVESTIGATION
DIAGNOSIS:
The diagnosis of pediatric hearing loss
requires careful history, family history and
physical examination. Accurate assessment
of the degree of hearing loss is essential to
develop the appropriate treatment plan.
Testing hearing in a young child with
hearing loss can be difficult and require
experience and significant expertise. There
are multiple ways depending on the child‘s
age and severity of hearing loss that hearing
can be tested.
Behaviour testing
This test is given from birth
to 6 months of age.
The child behaviour is
monitored during the test and
compared to normal hearing
children as younger children
cannot give the specific
responses required in pure-
tone audiometry.
This test requires experience
and skill from the tester.
Condition play audiometry
Similar to behaviour testing
This test is given for children
ages two and half a year to
five years.
A more complete frequency-
specific hearing test can be
obtained from this method.
Pure-tone audiometry
This is a standard hearing
test.
This test determines the
lowest tone at which a child
can hear a specific tine at a
specific frequency.
For older children, speech
can also be tested by
presenting words as opposed
to tones.
Speech testing can give an
accurate assessmentof the
ability to wear hearing aids.
Auditory Brainstem Response
Testing (ABR,BSER,BAER)
Auditory sound or stimulus
from a probe placed in the ear
to stimulate the hearing
system is used.
The response of this sound is
measured by surface
electrodes placed on the
head.
No responses are required
from the child to measure
these responses.
160 Pediatric conditions Hand notes
Evoked Otocoustic Emissions
(EOAEs)
OAE are sounds that are
produced in the cochlea and
measured with via probe in
the ear canal.
No responses are required
from the child to measure this
sounds.
Other tests depending on
symptoms, family history,
associated other medical
problems and physical
examination may be
obtained.
These include the following:
- MRI scan- uses magnetic
waves to make pictures of
the inside of the head.
- CT scan of the temporal
bone- a type of x-ray that
uses a computer to
makepictures of the head.
- Urinalysis- urinalysis can
reveal diseases that have
gone unnoticed because
they do not produce
striking signs or
symptoms. Examples
include various forms of
glomerulonephritis and
diabetes mellitus.
- Thyroid testing- blood
test used to evaluate how
effectively the thyroid
glandis working
- Electrocardiography
(EKG)- an instrument
used in the detection and
diagnosis of heart
abnormalities that
measures electrical
potentials on the body
surface and generates a
record of the electrical
currents associated with
heart muscles activity.
- Complete blood cell
count.
- Other blood work.
- Genetic testing.
Genetic Testing
A relatively new diagnostic
tool to diagnose paediatric
hearing loss is via molecular
genetics or genetic testing.
This type of testing involves
obtaining blood from a
hearing impaired child and
performing a chromosomal
analysis.
The chromosomal defect
leading to the hearing loss
can be identified.
This test used for both
diagnostic and research
purposes.
MEDICAL MANAGEMENT
Family support, advice and
information.
Hearing aids: the early use of hearing
aids (before 6 months of life) has a
better outcome, in term of speech
and language development.
Pre-school education support.
161 Pediatric conditions Hand notes
Special school education need
assessment and provision.
Cochlear implants: cochlear implants
in both ears are recommended for
children with severe to profound
deafness only if they do not get
enough benefit from hearing aids
after trying them for 3 months.
Other devices such as radio aids (the
teacher wears a transmitter and the
child with hearing loss wears a
receiver).
Communication support (spoken or
signed) including:
Auditory-oral approaches
maintain that many deaf
children can develop their
listening skills and a spoken
language. These approaches
emphasise the use of hearing
aids, radio aids and cochlear
implants to maximize the
hearing a deaf child may
have.
Lip reading and speech
reading.
Sign bilingualism describes
an approach that encourages
the learning and using of two
languages at the same time: a
sign language and
written/spoken language.
Finger spelling: each letter of
the alphabet is indicated by
using the fingers and
palm of the
hand. It is used for spelling
names, places or forwords
that don‘t have a sign.
Vibrotactile devices.
Speech therapy.
PREVENTION
Rubella immunisation programmes
aiming at eradication.
Early diagnosis and treatment of
potential causes (meningitis).
Cautious prescribing of medications
for pregnant and possibly pregnant
women as well as children.
REFERENCES
http://www.medicinenet.com/detecti
ng_hearing_loss_in_children/article.
htm
http://www.pamf.org/hearinghealth/f
acts/children.html
http://www.patient.co.uk/doctor/Chil
dhood-Deafness.htm
http://www.vanderbilthealth.com/bill
wilkerson/27938
Pediatric Audiotology: diagnosis,
technology and management by Jene
Reger Madell and Carol Flexer.
Visual Receptive Deficit
Introduction
162 Pediatric conditions Hand notes
The visual receptive component is
the process of extracting and
organizing information from the
environment (solah&Linear 1986)
It means that the visual receptive
component is the process of pulling
out and arrange the input that gain
from the environment.
Visual receptive is one of the visual
perceptive components.
Another component for visual
perception which related to visual
receptive component is visual
cognitive component.
Visual receptive cognitive
component is the ability to interpret
and use what is seen.
Visual receptive component include
fixation,pursuit and saccadic eye
movements,acuity.accomondation,bi
nocular vision and stereopsis
convergence and divergence.
Definition
♦The visual receptive deficit means
disability to pull out and translate the
information that gain from the environment
and surrounding.
♦Children with visual receptive deficit is
unable to recognize and identify of
shape,object,colour and other quantities.
♦They are also always related with low
vision,blindess and any other visual problem
Type Of Visual Receptive Deficit
♦The importance of good vision for
classroom work cannot be emphasized
enough.
♦More than 50% of a student‘s time is spend
working at near point visual task such as
reading and writing.
♦Another 20% is spent on task that require
the student to shift focus from distance to
near and near to distance such as copying
from the board.
♦More than 70% of the day, tremendons
stress is being put on the visual
system(Ritty,Solah&Cool 1992)
♦Many student with low vision dysfunctions
can have difficulty meeting the behavioral
demands of sitting still, sustaining attention
and completing their work .
☻One type of visual receptive deficit is
REFRACTIVE ERROR.
Binocular Dysfunction
Experiences blurred vision at
distance and near, with the degree of
loss of clarity depending on the
amount of astigmatism.
Astigmatism
Astigmatism is type of refractive
error of eye and is the common
reason why a person goes to see an
eye professional.
When the conditions motor fusion
and the sensory have meet for
binocular fusion to occur, the single
163 Pediatric conditions Hand notes
binocular vision is at the best
difficult and at worst impossible.
One eye overtly turn in, out, up, or
down because of muscular
imbalance, the condition is known as
strabismus or we called as wandering
eye.
Another type of binocular
dysfunction is phoria.
Phoria refers to a tendency for one
eye to go slightly in,out,up and down
but with the absence of over
misalignment of two eyes.
BLINDNESS
Blindness is those people who is
unable to see or loss of vision.
This problem is due to the damage
in the region of the left or right
occipital cortex.
Occipital cortex play an important
role for vision. It processing visual
information that receives from the
environment.
Nearsightedness& Farsightedness
The child who is nearsighted has
blurred distance vision but generally
experiences clarity at near point.
The child who is farsighted
frequently has clear distant and near
vision but has to exert extra effort to
maintain clear vision at near point.
Causes of Visual Receptive Deficit
There are several causes that lead to the
visual receptive deficit:-
♦Disruption/dysfunction of oculomotor
control.
♦Visual field deficit.
♦Visual acuity deficit
DISRUPTION /DSFUNCTION OF
OCULOMOTOR
Oculamotor system makes possible
the reception of visual stimuli(visual
receptive).
The purpose of occulamotor function
is to achieve and maintain foveation
of an object.
Occulomotor disruption occur when
the six muscles around each eyes
which work together in an extremely
arrange manner in order to
accurately controls eye movement
are not properly coordinated
The causes of occulomotor
dysfunction range from slow
development to disease of the central
nervous system.
VISUAL FIELD DEFICIT
Visual field is the external world that
can be seen when a person looks
straight ahead.
Damage to the receptor cell in the
retina or to the optic pathway that
relays retinal information to the
central nervous system(CNS) for
164 Pediatric conditions Hand notes
processing result in a visual field
deficit.
The location and the extent of the
visual field deficit depends on where
damage occurs on the pathway.
The example of case involving the
visual field deficit is blindness or
loss of vision.
VISUAL ACUITY DEFICIT
Visual acuity is the ability to see
small visual detail. Acuity
contributes to the capability of the
CNS to recognize object.
Acuity is also said as keenness or
sharpness and with regard to vision,
acuity ensures that clear and precise
visual information is provided to the
CNS for processing.
Most of the deficiencies in visual
acuity are caused by the deficit in the
optical system (the cornea or lense)
or even the length of the eyeball.
This is causes the image to be
focused poorly on the retina.
The example of case regarding the
visual acuity deficit is
nearsightedness, farsightedness and
astigmatism
CLINICAL PRESENTATION
☻There are a few of sign and symptom that
shows for every causes of visual receptive
deficit.
DISRUPTION/DSYFUNCTION OF
OCULOMOTOR
Children with oculomotor system
dysfunction always has a fatigue, eye
pain, or headache after a period of
sustained viewing in near task such as
reading.
The children also may have difficulties
concentrating and maintaining attention
in school work, an activity such as
drawing, colouring, cutting and
puzzling.
VISUAL FIELD DEFICIT
Children with visual field deficit is
having difficulty of seeing.
In early stage, the children have
difficulty recognizing object at a
distance (street sign or bus sign).
The children also may have difficulty in
differentiating colours particularly in
the green blue-violet range. The
children may also difficult seeing well
up close for example is reading.
VISUAL ACUITY DEFICIT
Children with visual acuity deficit
result in an inability to discriminate
small details and to distinguish
contrast and colour.
Activities dependent on
reading,writing,and fine motor
coordinate(e.g: reading the
book,dialing a telefon,identifying
money and brush the teeth.
The children may be unable to
identify landmarks, see obstacle in
the path of walking, or accurately
detect motion which may impair his
or her ability to ambulate safely and
165 Pediatric conditions Hand notes
maintain orientation in the
environment.
This may reduce the independence
level of the children.
Investigation
There are some diagnoses that can be
done to detect the visual receptive
deficit among the children.
Interview with the
family regarding significant visual
history helps identify any
conditions that may be associated
with visual limitations.
Interview with the
teacher to know the level of the
children during learning activities
at school.
Perimetry,confrontati
on and careful observation of the
child as he or she performs daily
activities give useful information
regarding field integrity in
measuring visual field.
A head scan may help
to confirm where and what kind of
damage has happened to the visual
part of the brain.
Some school and
clinics use a telebinocular or other
similar instrument in vision
screen.This provide information on
clarity or visual acuity at both near
and far distance, as well as
information on depth perception
and binocularity.
Medical Management
There are some treatments that can be done
to overcome the problem that involve in
visual receptive deficit:-
Some children have surgery to
correct an eye turn. Although this
intervention can correct the eye
cosmetically, it does not always
result in binocular vision.
Encourage the children to use the
spectacles, contact lenses or low
vision aid(LVA).This will help the
children see more clearly and ensure
the vision part of the brain grow and
develop correctly.
Problem at the school may be reduce
expecially in reading by increase the
size of print and word space out.
Home visiting teachers,
physiotherapist and occupational and
speech therapy may all add to the
child‘s cares and education. It is
important to continue the programme
that they recommend.
When reading, it can be helpful to
read line at time through a ‗letter
box‘ placed over the page.
Placing a piece of blue tack below
the line they are reading at the
beginning of the next sentence can
help some children find their way
back to the start of the next line more
quickly.
Prognosis
The children who is undergo the treatment
shows a positive feedback which they shows
the improvement in their level of life
regarding the visual receptive problem.
Some of the treatment are very suitable with
the patient. However not everyone is lucky
166 Pediatric conditions Hand notes
enough to be healthy as it was. Some
treatment maybe not suitable with the
children or the children cannot be cured
because it has a severe problem. The
treatment such as surgery procedure is not
guaranted enough to solve the problem
involving Blindness. But another treatment
such as using a spectacle may help the
children who has a low vision problem.
REFERENCE
OCCUPATIONAL THERAPY FOR
CHILDREN,15th
EDITION,COPYRIGHT 2005 JANE
CASE SMITH.
OCCUPATIONAL THERAPY-
practice skill for physical
dysfunction,16th
EDITION,COPYRIGHT 2006
MOSBY.
Visual Perceptive
DEFINITION
●Visual perception is the ability to interpret
information and surrounding from the effect
of visible light entering the eye
●Visual reception component is the process
of extracting and organizing information
From the surrounding.
●Visual reception components are:
-visual fixation
-pursuit
-saccadic eye movement
-acuity
-accommodation
-binocular fusion and stereopsis
-convergence and divergence
-Visual fixation:
is the prerequisite skill for other
oculomotor.For example shifting the gaze
between object.
-Pursuit:
is continued fixation on the moving object
so the object is maintained in the fovea(the
most centre part of the macula in the eye)
-Saccadic eye movement:
is defined as rapid change of fixation from
one point to another.For example during
reading.
-Acuity:
is the capacity of each eye to differentiate
the fine of object in the visual field.
-Accommodation:
167 Pediatric conditions Hand notes
The ability of each eye to compensate for
blurred vision which a process used to
obtain clear vision.
-Binocular fusion:
The ability mentally to combine the image
from two eyes into single perception.There
are two types of prerequisite skills which are
motor fusion and sensory fusion.
-Stereopsis:
Binocular depth perception or three
dimensional vision.
-Convergence and divergence
The ability of both eyes to turn inward
toward the medial plane and outward from
the medial plan.
●Visual cognitive component provide the
ability to interpret and use what is seen
●Visual cognitive component are:
-visual attention
-visual memory
-visual discrimination
-visual imagery
-visual attention:
Its involves the selection of visual input and
provide an appropriate time frame through
which visual information is passed by the
eyes to the brain to be interpret.
There are 4 component of visual attention
1.alertness–is the transition from an awake
to the attentive and ready state needed for
active learning and adaptive behaviour.
2.selective attention–is the ability to choose
relevant information and ignoring irrelevant
information.
3.vision vigilance–is conscious mental effort
to concentrate and persist at a visual task.
4.shared attention–is when two or more
simultaneous tasks are given and the abiliy
to respond to it.
-visual memory:
It involves the integration of visual
information with previous experiences.
-visual discrimination:
The ability to detect features of stimuli for
recognition, matching and categorization.
*Recognition is the ability to note key
feature of a stimuli and relate them to the
memory.
*Matching is the ability to note the
similarities among visual stimuli.
168 Pediatric conditions Hand notes
*Categorization is the ability to determine
quality and category by which similarities
and differences can be detected.
●Object vision
Is implicated in the visual identification of
objects by colour,texture,shape and
size.Obvision are divided into three which
are form constancy,visual closure and
figure-ground.
1.Form constancy is the recognition of
forms and objects as the sane in the various
environment,positions and sizes.It help a
person develop stability and consistency in
the visual world.
2.Visual closure is the identification of
forms or objects from incomplete
figure.Enables a person to quickly recognize
the object,shapes and form by matching it to
previous memory that stored.
3.Figure-ground is the ability to differentiate
between foreground or background forms
and objects. It is the ability to separate
essential data from distracting environment.
●Spatial vision provides information about
the location of object qualities that needed to
guide action. There are three aspect of
spatial vision that are position in space,
depth perception and topographic
orientation.
1.Position in space is the determination of
the spatial relationship of figures and objects
to oneself or other forms and objects. This
provides the awareness of an object's
position in relation to the observe. This
perceptual ability is important to
differentiate among letters and sequences of
letters in a word.
2.Depth perception is the determination of
the distance between objects,figures or
landmarks and the observer and changes in
planes of surfaces. It help people to move in
spaces.
3.topographic orientation is the
determination of the location of objects and
the settings and the route to the location.
-Visual imagery
The ability to ´picture´ people,ideas and
ojects in the mind´s eye even mhen the
object are not physically present.
169 Pediatric conditions Hand notes
VISUAL PERCEPTIVE DEFICITS
TYPE
1.Blindness
2.Low vision
CAUSES
1.Macular degeneration
2.Diatetic retinopathy
3.Glaucoma
4.Hypertension
5.Choroiditis
6.Retinitis pigmentosa
CLINICAL PRESENTATION
1.May have reversal b for d, p for q or
inversion u for n, w for m.
2.Has difficulty negotiating.
3.Complaints eyes hurt and itch.
4.Always rubbing eyes.
5.Complaints print blurs while reading
6.Turns head when reading a cross page
7.Hold paper at odd angle.
8.Can not copy correctly
9.Loses place frequently.
10.Does not recognize an object or word
when only part of it is not shown.
11.Hold pencil tightly.
12.Struggles to cut or paste
13.Letters colliding, irregular pacing, letters
not in on line.
INVESTIGATION
To detect the perception deficit is through a
few test perform by thre ophthalmologist.
The tests are
1.Visual acuity test:a person needs an eye
chart measure how well the person sees at
various distances. For example by using
snell chart
2.Visual field tesr:ophthalmologist use this
test to measure side or peripheral vision.
3.Tonometry test:This test determine the
fluid pressure inside the eye to evaluate for
glaucoma.
MEDICAL MANAGEMENT
1.Treatment for glaucoma involves the
application of eyes drop or oral
administration of medication to decrease the
pressure in the eyes.
170 Pediatric conditions Hand notes
2.Laser treatment for glucoma to reduce the
fluid pressure in the eye.
3.Early phases of cataract, treatment may
only involves prescription glasses and
magnifies.
4. In progress cataract, surgery is the only
option fir the patient.
5.Laser procedure and surgical treatment are
used to reduced the effect of diabetic
retinopathy on the retina of the eye.
Visual perception deficit in
head injury
Definition
-Is any trauma that leads to injury of the
scalp, skull or the brain.
-After the brain injury,visual changes may
occur.These changes can vary from mild to
severe impairment depending on the type
and the location of the injury.The ability to
perform daily activities can be affected in
various ways.
-Types changes may be in
1. Ocularmotor control
2. Visual acuity
3. Visual attention
4. Visual perception
1. Oculamotor control difficulties result in
problem coordinating eye muscle. For
examples
•Difficulty in tracking object movement in
space with the eye
• Problem with scanning
•Difficulty with reading
•Double vision (a condition where two
images are form a single object either some
or all
171 Pediatric conditions Hand notes
of the time.The two images may be one
on top of the other, side by side or a mix of
both)
2. Visual acuity is simply how clearly you
see,whether it is near vision as needed for
Reading and far distant for driving.Any
changes included
• Needed for corrective lenses.
•Altered contrast sensitivity(seeing object
distinct from the background environment
for example seeing white sock on white
carpet).
3.Visual attention is the ability to focus on
object and environment to note specific
Characteristic and know their relationship
to each other.
4.Visual perception is the ability the brain to
interpret information. After the brain injury
visual perception can be altered in several
ways
•Visual field deficits-lose of vision in a
part of one sides of the body.
•Reduced visual attention-limited focus
sometimes on one side of the body
•Impaired spatial relation-decreased ability
to see object s in relations to their
environment or other object. For example
eating only from one side of the plate.
•Problem in reading
•Problem in the financial management
•Difficulty with functional mobility tasks
and navigating around environmental
Obstacles.
Bibliography
-Jane Case Smith fifth edition:occupational
therapy for children
-http://www.nhs.uk/condition/Double
vision/Pages/Introduction.aspx
-
http://www.wrongdiagnosis.com/symptom/b
lindness/causes.
172 Pediatric conditions Hand notes
Deaf and Blind
Introduction
In the subject Pediatric Condition,
there are many chapters we will learn. One
of the chapters is Children with Sensory
Deficits. In this chapter, I have do an
assignment about deaf and blind.
In this children problem, we can
define what definition of deaf is and
definition of blind. In this assignment, I also
put the type of deaf and blind and what are
the causes that lead to deaf and blind.
Besides that, we can know the clinical
presentation of deaf and blind. Furthermore,
we can define what the investigation for
deaf and blind is. We also can define what
the suitable medical management for deaf
and blind are.
Deaf is hearing impairment or the
condition where in ability to defect certain
frequencies of sound. Blind is the condition
of lacking visual perception. Deaf and blind
may result from genetic or disease.
There are much type of deaf and
blind such as conductive hearing loss and
colour blindness. This type of disorder can
be detect by doing some test and can be
treated by using hearing aids or do surgery.
Definition Of Deaf
Deaf is partially or completely
lacking in the sense of hearing.
Unable to receive sound.
Hard to hearing.
Deafness can occur in one or both
ears.
Definition Of Blind
The condition of lacking visual
perception due to physiological
factors.
Conditions that prevent an individual
from receive sound in any forms.
Can affect individuals of any age and
may occur at any time from infancy
through old age.
Type of Deaf
Conductive Hearing Loss- part in
the outer ear and/or middle ear don‘t
work properly. It is caused by head
injury, ear infection, birth defects
and disease such as otosclerosis.
Sensorineural Hearing Loss-
results from damage to the delicate
sensory hair cells of the inner ear or
the nerves which supply it. It is
causes by normal ageing proses, too
much loud noise, genetic, head
injury and certain medications.
A Mixed Hearing Loss- refers to a
combination of conductive and
sensorineural loss and means that a
problem occurs in both the outer or
middle and the inner ear.
A Central Hearing Loss- results
from damage or impairment to the
nerves or nuclei of the central
nervous system, either in the
pathways to the brain or in the brain
itself.
173 Pediatric conditions Hand notes
Neural Hearing Loss- hearing nerve
doesn‘t work properly causes by
genetic, head injury and tumour.
Type Of Blind
Colour blindness- the decreased
ability to perceive differences
between some of colour that other
can distinguish. It is more often of
genetic and may also occur because
of brain damage or exposure to
certain chemical.
Blind sight- is phenomenon in
which people are perceptually blind
in a certain area of their visual field
demonstrate some response to visual
stimuli.
Monocular blindness- is the visual
loss that affects only one eye. This
condition is common and could last
from a few minute to a few hours.
Night blindness- is a decreased
ability to see at night. Problems
seeing in any dark or dim lighting.
Causes Of Deaf
Age- old age have higher percentage
to loss sense of hearing than
children. The ability to hear
decrease with increasing of age.
Long-term Exposure to
Environmental Noise- People who
lives near airports or freeways is
exposed to levels of noise. Common
sources of damaging noise levels
include car stereos and
transportation. If one is exposed to
loud sound at high levels, then
hearing impairment will occur.
Genetic- If a family has a dominant
gene for deafness it will persist
across generations because it will
manifest itself in the offspring even
if it is inherited from only one parent
Disease or illness-
Measles may result in
auditory nerve damage
Mumps may result in
profound sensorineural
hearing loss
HIV may directly affect the
cochlea and central auditory
system.
Chlamydia may cause
hearing loss in new-born to
whom the disease has been
passed at birth.
Syphilis is commonly
transmitted from pregnant
women to their fetuses, and
about a third of the infected
children will eventually
become deaf.
Otosclerosis is a hardening of
the stapes in the middle ear
and causes conductive
hearing loss.
Medication-Some medications cause
irreversible damage to the ear, and
are limited in their use for this
reason. This includes some diuretics,
aspirin and NSAIDs, and macrolide
antibiotics.
Exposure to Ototoxic Chemical-
Hearing loss can also result from
specific drug. Ototoxic chemicals
174 Pediatric conditions Hand notes
have an additive effect on a person‘s
hearing loss. Fatal alcohol syndrome
is reported to cause hearing loss of
infants born to alcoholic mother.
Physical trauma- People who had
head injury are especially vulnerable
to hearing loss or tinnitus, either
temporary or permanent. There can
be damage either to the ear itself or
to the brain centers that process the
aural information conveyed by the
ears.
Causes Of Blind
Genetic- eyes disease that
transmission from parent by genes.
Cataract- clouding of the lens of the
eyes which impedes the passage of
light.
Glaucoma- an eyes disorder in
which the optic nerve suffer damage.
Corneal opacities- inflammatory
eyes disease that cause scarring of
the cornea.
Trachoma- is a bacterial infection of
the eyes. Infection spreads from
person to person.
Accident- blind can occur if
something hurt the eyes.
Optic nerve (atrophy)-affect the
nerve bundle that send signal from
the eyes to the back of the brain.
Childhood blindness can be caused by
conditions related to pregnancy, such as
congenital rubella syndrome and retinopathy
of prematurity. Blindness also can occur in
combination with such condition as mental
retardation, autism spectrum disorder,
cerebral palsy, hearing impairment, and
epilepsy.
Clinical Presentation Of Deaf
Clinical sign;
Doesn‘t react when called
Appears inattentive or prone to
daydreaming
Listens to the TV at high volume
Balance problems
Language impairment
Talk too loudly
Mispronounces words
Behind in development motor skill
and coordination
Is often tired, grump, frustrated or
over-active
Clinical symptom in infants;
1-4 months : lack of response to
sound or voices.
4-8 months : disinterest in musical
toy.
: Lack of
verbalization such as babbling
8-12 months : lack of recognition of
child‘s own name
12-16 months: lack of speech
175 Pediatric conditions Hand notes
Clinical Presentation Of Blind
Clinical symptom;
Impaired vision
Language impairment
Poor vision
Denial of colour issues
Clinical sign;
Eyes don‘t line up, one eye appears
Crossed or looks out
Eyelids are red-rimmed, crusted or
swollen
Eyes are watery
Child rubs eyes a lot
Blinks more than usual
Has trouble reading
Things are blurry or hard to see
Investigation Of Deaf
SCANNING TEST
Otoacoustic Emissions Test (OAE)
the machine send sound to
the inner ear
Automated Auditory Brainstem
Response (AABR)
A small device that makes
special sound is placed in
baby ear.
A machine measure the
hearing nerve‘s response to
the sound.
If the children fails one of the skinning test,
they should do full hearing evaluation test
FULL HEARING EVALUATION
TEST
Test Age
Diagnostic Auditory
Brainstem Response
Under 6
months
Visual Reinforcement
Audiometry (VRA)
6 months to
2 years
Conditioned Play
Audiometry (CPA)
2 years to 4
years
Tympanometry Any age
Investigation Of Blind
Ishihara plates-the test consist of a
colour red plates which contains a
circle of dots appearing randomized
in colour size.
Night vision threshold test (NVTT)-
is an example of a colour perception
test.
Physical examination
Blood pressure- high blood pressure
increase risk of hypertensive
retinopathy, stroke and central retinal
vein thrombosis.
Visual acuity- reflects the integrity
of the central field
Examination of pupils
Ophthalmoscopy and slit lamp
examination-to examine the optic
nerve.
176 Pediatric conditions Hand notes
Medical Management of Deaf
A child with a hearing loss may
prefer to stay away from noisy
places, such as rock concerts,
Football games, and airports, as this
can cause noise overflow.
Controlling noise and using hearing
protectors are insufficiency for
preventing hearing loss from these
chemical.
Myringotomy
Psychotherapy
Tumpanoplasty tube placement
Cochlear implants
For children with a severe to
profound sensorineural hearing loss,
who receive little from hearing aids.
Bone conduction implants
For children with conductive hearing
loss, mixed hearing loss or sided
deafness.
Hearing aids
For children with a mild-to-moderate
sensorineural hearing loss.
MEDICAL MANAGEMENT OF BLIND
Contact lenses- used after surgery for
bilateral or unilateral cataracts in
children under two years of age.
Glasses- used in selected cases when
the cataract surgery involves both
eyes and contact lenses have failed.
Colour vision test
Cataract surgery-removal of the
natural lens of the eyes.
Laser surgery-is the surgery using a
laser to cut tissue instance of a
scalpel.
Use drug- example: Prednisone,
Timoptic, Xalatan
References
http://deafness.about.com/od/medical
causes/tp/topcauses.htm
http://www.pamf.org/hearinghealth/f
act/type.html
http://deafness.about.com/og/earbasi
c/a/typesoftloss.htm
http://www.pamf.org/hearinghealth/f
act/children.html
http://www.preventblindness.org/chil
dren/trouble-signs.html
http://en.wikipedia.org/wiki/hearing-
impairment
http://www.cochlear.com/au/hearing-
and-hearing-loss/type-hearing-loss-
children
http://www.cochlear.com/au/signs-
symptom-hearing-loss-children
http://www.cochlear.com/au/hearing-
loss-treatments/children
177
Acknowledgment
Thanks for all the students who involved to prepared this hands notes.