Angelman Syndrome - Signs and Symptoms

Signs and Symptoms

The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals.

Consistent (100%)

  • Developmental delay, functionally severe
  • Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
  • Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
  • Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span

Frequent (more than 80%)

  • Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
  • Seizures, onset usually < 3 years of age
  • Abnormal EEG, characteristic pattern with large amplitude slow-spike waves

Associated (20–80%)

  • Strabismus
  • Hypopigmented skin and eyes
  • Tongue thrusting; suck/swallowing disorders
  • Hyperactive tendon reflexes
  • Feeding problems during infancy
  • Uplifted, flexed arms during walking
  • Prominent mandible
  • Increased sensitivity to heat
  • Wide mouth, wide-spaced teeth
  • Sleep disturbance
  • Frequent drooling, protruding tongue
  • Attraction to/fascination with water
  • Excessive chewing/mouthing behaviors
  • Flat back of head
  • Smooth palms

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