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Angelman Syndrome

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Angelman Syndrome

  1. 1. Angelman Syndrome Craig Dobson, MD CPT, MC, USAR NCC Pediatrics
  2. 2. Case <ul><li>20mo male with h/o developmental delay, presents for evaluation of constipation. </li></ul><ul><li>PMH: </li></ul><ul><ul><li>Frequent seizures, multiple anticonvulsants. </li></ul></ul><ul><ul><li>Chromosome analysis normal. </li></ul></ul><ul><ul><li>Surgeries: strabismus correction planned. </li></ul></ul><ul><li>Physical exam </li></ul><ul><ul><li>Notable for a happy, giggling child, also slight jitteriness with movements. </li></ul></ul>
  3. 3. Angelman Features <ul><li>Seizures </li></ul><ul><li>Developmental delay/MR DQ20-35 </li></ul><ul><li>Strabismus </li></ul><ul><li>Sleep disturbance </li></ul><ul><li>Hypermotoric behavior/tremulousness </li></ul><ul><li>Ataxia </li></ul><ul><li>Excessive happiness </li></ul><ul><li>Constipation </li></ul><ul><li>Microcephaly </li></ul>
  4. 4. Multiple Genetic Mechanisms <ul><li>Overall cause is loss of maternally imprinted copy of genes on Chr15. </li></ul><ul><li>Prader-Willi is parental lost. </li></ul>
  5. 5. Causes of lost maternal imprint <ul><li>Deletion on maternal chromosome 15. (70%) </li></ul><ul><li>Uniparenteral disomy of Chromosome 15 (2-3%) </li></ul><ul><ul><li>Two copies of father’s Chr 15. </li></ul></ul><ul><li>Mutation of maternal UBE3A gene. (5-7%) </li></ul><ul><li>Imprinting defect (3-5%) </li></ul><ul><li>Unknown (15%) </li></ul>
  6. 6. Angelman Sx Sz. Management <ul><li>Seizure Management </li></ul><ul><ul><li>Partial motor, often minor movements </li></ul></ul><ul><ul><li>Difficult to distinguish from tremulousness. </li></ul></ul><ul><ul><li>Often difficult to control. </li></ul></ul><ul><ul><li>Valproate and clonazepam often work best. </li></ul></ul>
  7. 7. Management, cont <ul><li>Developmental delay </li></ul><ul><ul><li>Minimum of spoken words, ~20 </li></ul></ul><ul><ul><li>Begin non-verbal communication early. </li></ul></ul><ul><ul><ul><li>Sign, difficult with ataxia </li></ul></ul></ul><ul><ul><ul><li>Picture boards </li></ul></ul></ul><ul><li>Ataxia </li></ul><ul><ul><li>Supportive sitting </li></ul></ul><ul><ul><li>Gait training </li></ul></ul>
  8. 8. Management, cont. <ul><li>Sleep disturbance </li></ul><ul><ul><li>Create “safe sleeping” area </li></ul></ul><ul><ul><ul><li>High rails </li></ul></ul></ul><ul><ul><ul><li>Cushioning </li></ul></ul></ul><ul><ul><ul><li>Low to floor </li></ul></ul></ul><ul><ul><li>Medications: </li></ul></ul><ul><ul><ul><li>Chloral </li></ul></ul></ul><ul><ul><ul><li>Benedryl </li></ul></ul></ul><ul><ul><ul><li>Melatonin 0.3mg 1hr prior to sleep </li></ul></ul></ul>
  9. 9. Management, cont. <ul><li>Orthopedic problems </li></ul><ul><ul><li>90% of AS children learn to walk. </li></ul></ul><ul><ul><li>However, commonly have subluxed or pronated ankles or tight gastrocs. </li></ul></ul><ul><ul><li>May require bracing and alignment surgeries. </li></ul></ul><ul><ul><li>Scoliosis is common </li></ul></ul>
  10. 10. Prognosis/Outcome <ul><li>Adulthood </li></ul><ul><ul><li>Improvement of hyperactivity/Sleep patterns. </li></ul></ul><ul><ul><li>Daytime continence usually achieved. </li></ul></ul><ul><ul><li>Reduced seizure activity. </li></ul></ul><ul><ul><li>May transition to group home, but not independent. </li></ul></ul><ul><ul><li>Worsening scoliosis </li></ul></ul>
  11. 11. Prognosis/Outcomes <ul><li>Adulthood, cont. </li></ul><ul><ul><li>Improve in receptive speech and sign language. </li></ul></ul><ul><ul><li>Limited expressive speech (~20 words). </li></ul></ul><ul><ul><li>Most walk, but may need assistive devices. </li></ul></ul><ul><ul><li>Normal life span. </li></ul></ul>

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