Speech disorders 3
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Speech disorders 3By:
Majid Mojarrad
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incidence of 1/10,000 to 1/30,000
Deletion of maternal 15q11-13
Maternal Uniparental disomy of 15q11-13
Severe mental retardation
Severe speech impairment
Delayed development by 6–12 months of age
Receptive language skills
Nonverbal communication
Angelman syndrome
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balance disorder◦ unstable and jerky movements◦ gait ataxia◦ tremulous movements of the limbs
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Happy Excited Active Short attention span “Happy Puppet” syndrome
Happy phenotype
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Normal newborn phenotype
Developmental delay
◦ Starting around 6 months of age
◦ Eventually classified as severe developmental delay and/or mental retardation
◦ Profound speech impairment
◦ Absent or minimal use of words
◦ Receptive and nonverbal communication skills
Movement or balance disorder
◦ Abnormal ataxic gait
◦ Puppet-like jerky movements of limbs
◦ Hand flapping movement
Consistent cardinal features
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Seizure
Abnormal EEG
Strabismus
Wide mouth
Widely spaced teeth
Frequent drooling
Swallowing disorder
Feeding problems during infancy
Hypopigmented skin
Light hair and eye color,
Other signs
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Deletion of normally active paternally inherited genes at chromosome 15q11-q13
neurogenetic disorder characterized by:◦ Hypotonia◦ feeding difficulties in infancy
Followed by◦ Hyperphagia◦ Hypogonadism◦ mental retardation◦ Short stature
It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis
incidence of Prader-Willi syndrome is approximately 1/10,000 to 1/15,000 individuals
Prader-Willi syndrome
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Neonatal presentation
◦ Central hypotonia in infancy
◦ Poor feeding/sucking
◦ Poor weight gain (failure to thrive)
◦ Genital hypoplasia/hypogonadism
◦ Diminished deep tendon reflexes
◦ Abnormal squeaky weak cry
◦ History of fetal inactivity (in utero hypotonia)
CLINICAL FEATURES
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Developmental delay Mild dysmorphic features
◦ Almond-shaped eyes◦ Dolichocephaly◦ Narrow bifrontal diameter◦ Narrow nasal bridge◦ Small mandible◦ Small mouth◦ High-arched palate◦ Down-turned lips◦ Thick viscous saliva
Speech articulation defects
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relatively common genetic disorder 1 in 4000 live births Variable phenotype
◦ velocardiofacial syndrome◦ DiGeorge syndrome◦ Takao syndrome◦ Cayler craniofacial syndrome
Del(22q11.2) Syndromes
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congenital heart defects palate abnormalities aplasia or hypoplasia of the thymus small or absent parathyroid glands distinct facial features immune problems learning disabilities other abnormalities speech abnormalities congnitive difficulties
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failure to thrive
feeding problems due to their palate abnormalities
Gastroesophageal reflux
vomiting problems
Generalized growth problems
Short stature
specific learning disabilities
developmental delay
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higher rates of:◦ bipolar affective disorder◦ manic-depressive illness◦ Schizoaffective disorder◦ Depression◦ Mild mental retardation◦ attention deficit hyperactivity disorder
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Martin-Bell syndrome Most common form of inherited mental retardation about one in 4,000 to one in 6,250 males Three nucleotide repeat expansion (CGG) developmental delay variable levels of mental retardation behavioral and emotional difficulties
Fragile X syndrome
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Long face Prominent forehead Prominent/long ears Prominent jaw
Typical facial features
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Delayed developmental milestones Mild to severe mental retardation Difficulty with:
◦ abstract thinking◦ Sequential processing◦ Mathematics◦ short-term memory◦ visual motor coordination
Seizures
CNS involvement
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Hyperextensible finger joints Double-jointed thumbs Flat feet High-arched palate Mitral valve prolapse (55%, diagnosed by echocardiography) Dilatation of the ascending aorta Inguinal hernia Soft skin
Connective tissue dysplasia
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Poor eye contact (excessive shyness) Attention-deficit/hyperactivity disorder Hyperactivity Speech disorder Echolalia Autism Autistic-like features Schizotypal personality disorder Anxiety disorder
Behavior abnormalities
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congenital condition associated with abnormalities of the head
and the bones of the spinal column
one of every 3,000 to 5,000 live births
Males are affected more frequently than females
abnormalities are typically limited to the face and vertebrae
Goldenhar syndrome
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Can be bilateral or unilateral
Hemifacial microsomia
Ocular manifestations
◦ Unilateral microphthalmia
◦ Strabismus
◦ Optic nerve hypoplasia
◦ Macular hypoplasia
◦ Microphthalmia
◦ Anophthalmia
Clinical features
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Ear anomalies◦ Microtia◦ Preauricular tags and/or pits◦ Middle ear anomaly◦ Inner ear defects◦ Variable deafness
Vertebral defects◦ Hemivertebrae◦ Hypoplasia of vertebrae, usually cervical◦ Abnormal ribs◦ scoliosis
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Craniofacial features◦ Cranial nerve palsy◦ Cleft lip/palate◦ Malfunction of soft palate◦ Decreased parotid secretion◦ Anomalies in function or structure of the tongue◦ Low scalp hair line
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Rare X-linked recessive disorder (Xq26.1) Congenital cataracts mental retardation Generalized aminoaciduria New mutations in 31.6% of affected males Germline mosaicism in 4.5%
Lowe syndrome
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Eye abnormalities◦ Congenital cataracts (the hallmark of the disease)
Developed prenatally Always present prior to birth
◦ Congenital glaucoma◦ Microphthalmos◦ Nystagmus◦ Decreased visual acuity (blindness)
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Neonatal/infantile hypotonia Delay in motor milestones Cognitive impairment Areflexia by one year of age Mental retardation (common but not cardinal feature) Seizures Neuropathologic and neuroimaging abnormalities Self injury
CNS (prominently involved organ) and behavioral abnormalities
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Secondary consequences of hypotonia, renal tubular acidosis,
and/or hypophosphatemia
◦ Short stature
◦ Joint hypermobility
◦ Dislocated hips
◦ Scoliosis
◦ Kyphosis
◦ Fractures
Musculoskeletal abnormalities
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Progressive myopia, retinal detachment and blindness,
and premature degenerative changes in various joints
autosomal dominant with wide variation in expression
locus and allelic heterogeneity
COL2A1 gene mutations: Chr12q13.11-q13.2
STICKLER SYNDROME
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Hearing impairment Normal intelligence Facial bone hypoplasia
◦ Flat midface◦ Depressed nasal bridge◦ Maxillary hypoplasia◦ Mandibular hypoplasia◦ High arched/cleft palate◦ Abnormal teeth
Joint hyperextensibility Enlarged joints
Clinical features
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Long fingers Scoliosis Hip dislocation Relative muscle hypoplasia Premature osteoarthritis
Clinical features
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