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Angelman Syndrome

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

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Angelman Syndrome

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  1. Angelman Syndrome Craig Dobson, MD CPT, MC, USAR NCC Pediatrics

  2. 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.

  3. Angelman Features • Seizures • Developmental delay/MR DQ20-35 • Strabismus • Sleep disturbance • Hypermotoric behavior/tremulousness • Ataxia • Excessive happiness • Constipation • Microcephaly

  4. Multiple Genetic Mechanisms • Overall cause is loss of maternally imprinted copy of genes on Chr15. • Prader-Willi is parental lost.

  5. 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%)

  6. 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.

  7. 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

  8. Management, cont. • Sleep disturbance • Create “safe sleeping” area • High rails • Cushioning • Low to floor • Medications: • Chloral • Benedryl • Melatonin 0.3mg 1hr prior to sleep

  9. 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

  10. 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

  11. 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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