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Case
20mo male with h/o developmental delay, presents for evaluation of constipation. PMH:
Frequent seizures, multiple anticonvulsants. Chromosome analysis normal. Surgeries: strabismus correction planned.
Physical exam
Notable for a happy, giggling child, also slight jitteriness with movements.
Angelman Features
Seizures Developmental delay/MR DQ20-35 Strabismus Sleep disturbance Hypermotoric behavior/tremulousness Ataxia Excessive happiness Constipation Microcephaly
Mutation of maternal UBE3A gene. (5-7%) Imprinting defect (3-5%) Unknown (15%)
Management, cont
Developmental delay
Minimum of spoken words, ~20 Begin non-verbal communication early.
Sign, difficult with ataxia Picture boards
Ataxia
Supportive sitting Gait training
Management, cont.
Sleep disturbance
Create safe sleeping area
High rails Cushioning Low to floor
Medications:
Chloral Benedryl Melatonin 0.3mg 1hr prior to sleep
Management, cont.
Orthopedic problems
90% of AS children learn to walk. However, commonly have subluxed or pronated ankles or tight gastrocs. May require bracing and alignment surgeries. Scoliosis is common
Prognosis/Outcome
Adulthood
Improvement of hyperactivity/Sleep patterns. Daytime continence usually achieved. Reduced seizure activity. May transition to group home, but not independent. Worsening scoliosis
Prognosis/Outcomes
Adulthood, cont.
Improve in receptive speech and sign language. Limited expressive speech (~20 words). Most walk, but may need assistive devices. Normal life span.