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Angelman Syndrome

Craig Dobson, MD CPT, MC, USAR NCC Pediatrics

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

Multiple Genetic Mechanisms


Overall cause is loss of maternally imprinted copy of genes on Chr15. Prader-Willi is parental lost.

Causes of lost maternal imprint


Deletion on maternal chromosome 15. (70%) Uniparenteral disomy of Chromosome 15 (2-3%)
Two copies of fathers Chr 15.

Mutation of maternal UBE3A gene. (5-7%) Imprinting defect (3-5%) Unknown (15%)

Angelman Sx Sz. Management


Seizure Management
Partial motor, often minor movements Difficult to distinguish from tremulousness. Often difficult to control. Valproate and clonazepam often work best.

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.

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