Angelman Syndrome

Angelman Syndrome

Features

Seizures
Developmental delay/MR DQ20-35
Strabismus
Sleep disturbance
Hypermotoric behavior/tremulousness
Ataxia
Excessive happiness
Constipation
Microcephaly


CAUSE

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%)




Management:

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


Developmental delay
Minimum of spoken words, ~20
Begin non-verbal communication early.
Sign, difficult with ataxia
Picture boards


Ataxia
Supportive sitting
Gait training

Sleep disturbance
Create “safe sleeping” area
High rails
Cushioning
Low to floor

Medications:
Chloral
Benedryl
Melatonin 0.3mg 1hr prior to sleep

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
Improve in receptive speech and sign language.
Limited expressive speech (~20 words).
Most walk, but may need assistive devices.
Normal life span