Angelman Syndrome

Angelman syndrome – aka. 15q11-13 MATERNAL DELETION SYNDROME

  • “Neurodevelopmental” genetic disorder
    • Deletions account for >70% of cases
    • Deletions in region of BP1 to BP3 can be subclassified into class I and II deletions
      • Class I are larger and extend from BP1-BP3 ∴ greater disease severity with need for more seizure medications, greater difficulties in expressive language and higher incidence of autism spectrum disorders
  • Characteristics:
    • Severe to profound intellectual disability
    • Postnatal microcephaly
    • Movement or balance disorder, usually in the form of gait ataxia and/or tremulous movement of limbs
    • Distinctive facial features as adult – “coarse”
    • may present with: frequent laughter or smiling, apparent happy demeanor, easily excitable personality, often with hand flapping movement, hypermotoric behaviour, fascination with water, mouthing behaviours and a short attention span
      • but with age, tend to become less excitable and sleeping issues tend to improve

  • Other manifestations:
    • 80% have seizures
      • abnormal EEG with large-amplitude slow-spike waves (seen even when no seizures)
    • Sleep – often compromised with frequent waking and altered sleep cycles
    • Obesity
    • Constipation
    • Scoliosis
    • Limited verbal communication
    • Self-injurious behaviour
    • Feeding problems and gastroesophageal reflx
  • Management:
    • Seizures:
      • If mild, may respond well to clonazepam
    • Severe sleep disturbances
      • Melatonin and/or clonidine

References:

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