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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 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.

				
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