Angelman Syndrome
Craig Dobson, MDCPT, MC, USARNCC 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
SeizuresDevelopmental delay/MR DQ20-35StrabismusSleep disturbanceHypermotoric behavior/tremulousnessAtaxiaExcessive happinessConstipationMicrocephaly
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 father’s 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.