Management of Disability & Down Syndrome
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Transcript of Management of Disability & Down Syndrome
Management of Disability &
Down Syndrome
Presented by Dr Joan MurphyDepartment of Paediatrics, TCD, 2009
2009 Dr. J. Murphy, Paediatrics, TCD 2
IntroductionAims Definition of disability Definition of child groups Family centred care of child Key to care of child in hospital setting Definition of Down syndrome Treatable medial problems Medical Management in DS Think about all the Possibilities
2009 Dr. J. Murphy, Paediatrics, TCD 3
Definitions of Disability
Disorder
Impairment
Disability
Handicap
2009 Dr. J. Murphy, Paediatrics, TCD 4
Definitions of Disability (WHO 2001)
Mental impairment and learning disability– Intellectual impairment
• Mild / moderate / severe / profound• (IQ levels 50-69/35-49/20-34/>20) WHO 2001 Mental Health
– Learning disability• Denotes the presence of lower than normal intelligence
(IQ) (review for genetic association – ? syndrome)
– Specific Learning disability• Low intelligence/normal intelligence/high intelligence• ‘dyslexia’ (reading/writing/maths/ comprehension)• Developmental Coordination Disorder (DCD)
2009 Dr. J. Murphy, Paediatrics, TCD 5
Children with Disability Physical/ Sensory/Cognitive/Social Attention Deficit Hyperactivity Disorder
(ADHD) Autism Cerebral Palsy Down syndrome Visually/Hearing impaired Unlabelled (fine motor/gross motor)
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Key to Care of Child in Hospital
Age of child Trust Family centred care Commitment Involvement Time
2009 Dr. J. Murphy, Paediatrics, TCD 7
Child Groups Definition
Infancy (learning to trust/ vital bonding)
Toddler ( ability to control their bodies) Early childhood (strong imagination)
Middle childhood ( sense of competence)
Adolescence (rapid physical and emotional changes )Greatest risk by hospitalization
2009 Dr. J. Murphy, Paediatrics, TCD 8
Family Centred Care based on principles
Make Rights and well being of child your priority View Parents key to child’s health & well beingView parents as experts for their childSupport parents as individualsFacilitate access to supportsBuild on what is thereDevelop a partnership approachWork on interagency & interdepartmental basisPlan in a locally responsive way
2009 Dr. J. Murphy, Paediatrics, TCD 9
How to make it work
Trust Past experiences – borrow everyone's
“Tricks of the Trade” Games (age/ability appropriate) Flexibility (each child is an individual) Choice (limit them to two) Parents (collaboration) Child (centre of the paediatric practice)
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Health Problems in Disabilities Respiratory diseases Hearing loss - 40% fail to get treatment Vision problems GI problems Epilepsy / skin Joint / Mobility 50% Mental Health Screening No dedicated Guidelines for all disabilities
2009 Dr. J. Murphy, Paediatrics, TCD 11
Working in a Paediatric arena Communication
– verbal/ signing/ writing/ none? Consent Sedation - suitability / previous experience Psychosocial impacts
– Child– Family
Recovery & Many Future visits
2009 Dr. J. Murphy, Paediatrics, TCD 12
Care of a Patient with Disability Informed consent *
– Parent(s) Child/Adolescent– Community liaison Nurse/ RMHN
Pre-admission Plan– Liaison with Patient and Carer– Patients community supports– Primary Care Team– Community Special Services Team
*(Guidelines in relation to Obtaining Consent AMNCH – Version 1/Reviewed Sept 2006 - see appendices page 34)
2009 Dr. J. Murphy, Paediatrics, TCD 13
Care of a Patient with Disability Admission
– Assess need - additional healthcare resources
– Ensure family/carer involvement at level they desire
– Ensure Good Communication between all parties
Care Delivered: according to Care Plan and hospital / community protocols
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Care of a Patient with Disability
Medications (?Special attention)
– Preparation
– Times
– Method of administration
– Tailored to individual patient’s needs
2009 Dr. J. Murphy, Paediatrics, TCD 15
Care of a Patient with Disability Discharge Plan Patient with disability - complex discharge planning
needs Discuss at time of admission Ensure involvement of
– Patient/Family/Carers/Primary care team– Community Special needs
Discuss appropriate referrals– Clinical Psychology– Speech Therapy – Occupational Therapy/ Physiotherapy– Independent living– Community Health / GP/ Public Health Nurse/ Sp services
Contact name and telephone number
Dr. J. Murphy, Paediatrics, TCD
Delivering the news “…and it’s not just a sentence, every word is
important because you are hanging on to everything they say and you will remember every word that they say, it sticks in your mind. They need to really plan their sentences and their words because this is going to stay with you for the rest of your life.”
Parent,
Informing Families Focus Groups
162009
Dr. J. Murphy, Paediatrics, TCD
Informing Families
“ It’s the toughest part of the job really. When you have experience you will prioritise this, because it’s a big priority, because it’s something that parents remember” Consultant Paediatrician
Informing Families Focus Groups
172009
Dr. J. Murphy, Paediatrics, TCD
Informing Families of their Child’s Disability
National Best Practice Guidelines
Guiding Principles
Best Practice Recommendations
National Federation of Voluntary Bodies www.fedvol.ie
182009
2009 Dr. J. Murphy, Paediatrics, TCD 19
What is Down Syndrome? A common condition
– Characteristic features (120)– Always some degree of learning disability – Dr. John Langdon Down (London)1866 – Prof Jerome Lejeune (Paris)1959
Present at birth – Parents of all ages– All social and educational levels– All ethnic groups
Unknown Cause No cure and cannot be prevented
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Down Syndrome Chromosomal Karyotype
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Types of Down Syndrome
Types of Down Syndrome
– Trisomy 21 (95%)• Three chromosomes 21 in every cell
– Translocation (3-5%)• Extra part of chromosome 21 attaches to
another chromosome in every cell
– Mosaic 1-2 % • Mixture of cells, some with an extra
chromosome 21 and others with just two.
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Epidemiology of Down Syndrome Incidence 1/546 live births (Eurocat 1990)
Maternal Age Risk15-19 1 in 1,84120-24 1 in 1,55425-29 1 in 1,03330-34 1 in 65735-39 1 in 23240-44 1 in 7345+ 1 in 26
"The Epidemiology of Down Syndrome in the Four counties of Ireland 1981-1990" Z. Johnson et al ‘Journal of Public Health Medicine’ Vol. 18, No. 1, pp.78-86. c Oxford University
Press.
Only 35% pregnancies survive to term (Oxford)
Prevalence of DS in Co Galway O’Nuallain et al IMJ 2007;100:1:329-331 1/373 live births over 20 year period 1981-2000 Retrospective study
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Life Expectancy
Life expectancy– Survival rate from < 60% - > 95% at 1 year of age (Hayes C., Johnson Z., 1997)
Birth Rate– 1 in 547 live births (Eurocat)
Population in Ireland– 3,559 persons with Down Syndrome ROI (1981 census of Mental Handicap Mulcahy M., l985)– 24% of all persons with learning disability
2009 Dr. J. Murphy, Paediatrics, TCD
Some Clinical Features Low muscle tone Head small / Neck short Upward slant to the eyes Wide nasal bridge Abnormal shape of the ears A single palmar crease with
incurved little finger Excessive ability to extend the joints Sandal gap between 1st and 2nd toes Upper & Lower Jaw usually smaller
– Tongue average size – more difficult to hold in smaller cavity
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Increased Medical Problems Most significant features – for medical care and
management– Cardiac– Growth– Thyroid disorders - Diabetes– Gastrointestinal Tract– Hearing impairment– Visual impairment– Orthopaedic -CERVICAL SPINE INSTABILITY – Sleep Obstructive Apnoea– Speech and Language– Epilepsy– Leukaemia– Klinefelter syndrome– Alzheimer’s Disease
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Cardiac defects (n=394)Cardiac anomalies = 45.7 %
61 (15.5%) Innocent heart murmur
52 (13.2%) AVSD (Atrioventricular Septal Defect) 23 (5.9%) ASD (Atrial Septal Defect) 21 (5.3%) VSD (Ventricular Septal Defect)
19 (4.8%) PDA (Patent Ductus Arteriosus)
9 (2.3%) ASD VSD
4 (1.0%) PDA VSD
4 (1.0%) Pulmonary Hypertension(Monitoring Children & Adolescents with Down Syndrome 1999Murphy Joan, Philip M., Meehan J., Harper J., Maine P., McShane D., O’Regan M.., Macken S., Roche E., Hoey HMCV)
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Growth Height
– 2 SD below general Irish population
Weight – general Irish population
Head Circumference – 2 SD below general Irish population
BMI – increased
Age of Menarche – general Irish population (range 9-15 years)
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Weight Results Age < 10 years
Overweight (%) Obesity (%)Girls (n=88) 18 (20) 15 (17)Boys (n=118) 22 (19) 25 (21)
Age > 10 years Overweight (%) Obesity (%)
Girls (n=86) 14 (16) 27 (31)Boys (n=89) 14 (16) 28 (31)
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Puberty in Girls
Age of onset of Menarche
• Mean age 12.6 yrs < general Irish population
• Age of Menarche (Range 9 - 13.5 yrs)
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Menstruation in DS
Regular menstruation 76%
Average cycle (days) 28
Ovulatory Cycles 88.5% (Scola, Peuschel
1992)
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Thyroid Disease in DS
Clinical features hypothyroidism lethargy ) developmental delay ) poor height ) overlap with clinical weight ) features of DS constipation ) depression/dementia )
Clinical diagnosis unreliable
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Thyroid Disease in DS Increased frequency DS
– 0.7% neonates / 16.4% school children/ 22% adults
Most common abnormality is hypothyroidism Both congenital and acquired Prevalence of thyroid disease increases with age Clinical features of DS can mask the presenting
signs and symptoms of hypothyroidism Biochemical screening for the presence of thyroid
disease in DS is necessary Undiagnosed hypothyroidism may result in
– preventable secondary handicap
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Gastrointestinal Tract Embryological and structural
– Anorectal (imperforate or stenosis) 10%
– Duodenal or jejunal (atresia or stenosis)
– Hirschsprung Disease 2% (50% present after age 1 month)
Motility and co-ordination– Feeding difficulties
– Constipation
– Toddler diarrhoea
– Gastro-oesophageal reflux (GOR)
– Gall stones
Autoimmune– Coeliac disease 4-17%
– Hepatitis
2009 Dr. J. Murphy, Paediatrics, TCD 34
Supporting Feeding & Oral Development in Young Children
Guidelines for ParentsBooklet is intended as a ref 1st 2 to 3 yrs
Not expected to read it - cover to cover
Dip in & out of it as questions arise
Need guidance regarding baby’s next steps
It is not intended to replace direct contact with multidisciplinary team
2009 Dr. J. Murphy, Paediatrics, TCD 35ISBN 1-890627-23-2
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Hearing problems in DS
60-85% mild to mod conductive hearing loss Sensorineural hearing loss 10-15% Mixed hearing loss Progressive in nature Social isolation and behavioural difficulties May be misinterpreted as depression or
dementia in adults
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HEARING IMPAIRMENT
Hearing Loss
Conductive Mixed Sensorineural
Outer ear
Middle ear
Inner ear
Pappas 1985
Hearing Loss
Conductive Mixed Sensorineural
Hearing Loss
Conductive Mixed Sensorineural
Outer ear
Middle ear
Inner ear
Pappas 1985
Conductive Hearing impairment (CHL)
Sensory Neural Hearing Loss (SNHL)
Mixed Hearing Loss (CHL+SNHL)
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Free on Web
www.ndcs.org.uk
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Visual problems Common in DS >50% require glasses Refractive errors Strabismus Cataract Glaucoma Keratoconus In older patient – high myopia(near sightedness) Early diagnoses and treatment
Prevents Unnecessary secondary handicap
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Orthopaedic problems Reduced muscle tone and laxity in
ligaments Abnormal skeletal development Cervical spine instability (1%) Subluxation of elbow joint (0.3%) Patella instability (1.5%) Scoliosis (0.8%) Subluxation hip joints (1.8%) Flat feet (63%)
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2009 Dr. J. Murphy, Paediatrics, TCD 42
Atlantoaxial Instability
Normal
Abnormal– The odontoid
occupies the safe zone of steel
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Cervical spine instability
Signs & Symptoms Pain behind the ear or elsewhere in the
neck Abnormal head posture Torticollis Deterioration of gait/ manipulative skills Reduced bowel and/or bladder control
REFER IMMEDIATELY
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Speech & Language Problems Speech impairment common Receptive lanquage skills increased Expressive language skills decreased Linguistic area easier (vocabulary) Grammar more difficult No speech and Language problems unique to
children with DS. Linked to hearing impairment (otitis media with
effusion, or fluid in the middle ear without signs or symptoms of ear infection)
2009 Dr. J. Murphy, Paediatrics, TCD 45
Epilepsy in Down Syndrome Why do people with DS develop Epilepsy?
o Brains are smaller and more sphericalo Hypoplasia of frontal and temporal lobeso Microscopic: altered structure of cerebral cortex
Frequency – Down syndrome 5-10%– General population 0.5-1%
Types of epilepsyo Infantile Epilepsy (< 1 year age)o Late Epilepsy (grand mal 8-10%) o Reflex Epilepsy (fits triggered by startle reaction)
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Practical management Epilepsy
Knowledge anxieties confidence Treatment – common standards Respect risks (traffic, water) No unnecessary restrictions Normally a favourable prognosis
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Leukaemia in DS Newborns – Transient leukaemia
– Condition resembles leukaemia but disappears on its own without treatment in a few weeks or months
– ? Increased of developing leukaemia in later life
Acute Myelocytic Leukaemia – common in first 3 years of life
Acute Lymphocytic Leukaemia – after age 3 yrs Treatment of AML – children with DS respond better
than children without DS Treatment of ALL – response rate appears to be equal Of those with DS who develop Leukaemia
– 80% ALL and 20% AML
2009 Dr. J. Murphy, Paediatrics, TCD 48
Klinefelter syndrome in DS
Boys with DS have an extra X chromosome (1/100)
Relatively small testes Will not undergo normal body development
during adolescence Infertility May require treatment with male sex hormone
to develop the normal physical changes of puberty
2009 Dr. J. Murphy, Paediatrics, TCD 49
Management in DS Provide Accurate information Breaking the news/diagnosis
– Say this in a positive way Remember Your first words to a family
have a Lifelong Impact Be the first step on the ladder to help
them achieve the positive adjustments needed in their lives
Focus on what can be done
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How You can Help Always use the child’s name Look at Mam and Dad when
communicating Empathy - Try to understand what it
means to have a child with Down syndrome or any disability
Listen to and learn from parents
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Parents Emotional time Take care of themselves Difficult for couples to help each other
– Both coming to this with their own history and value system
– Protecting each other may make it difficult to express their true feelings
It’s OK if they don’t feel those feelings It’s the ‘Down Syndrome’ that they are
having the problem with --Not their baby
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Individuels– Dignity– Inclusion– Normalisation– Self-determination– Quality of Life
Families– The family is the base of integration– The needs of the family itself need to be met
Rights of People with Disabilities
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2009 Dr. J. Murphy, Paediatrics, TCD 54
2009 Dr. J. Murphy, Paediatrics, TCD
People with DS can Achieve
Walk/Dance/Skate Talk/Read/Write Ride a bicycle Photography Swimming/Horse riding Gymnastics Computers Work Marry/have partner
2009 Dr. J. Murphy, Paediatrics, TCD 56
How many here have International Gold Medals?
Gold medalist Swimmers
2009 Dr. J. Murphy, Paediatrics, TCD 57
Guidelines for using Growth ChartsPreterm babies Insufficient data to compile preterm centiles If < 37 weeks do no plot until reach EDD, and adjust for
prematurity for first year If > 37 weeks plot as for chronological age
Underweight Babies below 2nd centile likely to have significant feeding
difficulties or pathology and need further assessment
Overweight Charts reflect the level of obesity in the current population NOT
the standard to be aimed for If weight >75th centile calculate and chart BMI If weight >98th centile on BMI needs further assessment
2009 Dr. J. Murphy, Paediatrics, TCD 58
New Information sources People with Learning Disabilities: Guide for
Health Professionals (Corbett, 2007)– John Wiley & Son Ltd, Chichester– ISBN 13 978 0 470 01986 3 W: www.wileycom
Behaviour Self (Dave Hingsburger)– Diverse City Press Inc.– ISBN 1 896230 06 7
Black Ink (Dave Hingsburger) – Practical advice & Clear Guidelines of Dealing with
reports of Sexual Abuse from People with Intellectual Disabilities
– ISBN 1 896230 30 X Handbook of Mental Health care for persons
with developmental disability (Ruth Ryan MD)– Diverse City Press Inc.– SBN 1 896230 24 5
2009 Dr. J. Murphy, Paediatrics, TCD 59
THANK YOU
2009 Dr. J. Murphy, Paediatrics, TCD 60
Contact DetailsDr. Joan Murphy PhD
Clinical/Research Nurse Specialist/LecturerDepartment of Paediatrics /TCDPhone: 01 8963785/ Fax 3786
Mobile: 0878334916/ Bleep 7193Email: [email protected]
Your questions are important to me