Clinical Features in Angelman Syndrome

March 21st, 2007
   

Always Seen/Consistent (100%)

  • Developmental delay, functionally severe( failure to match developmental milestones of other children)
  • Profound speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
  • Movement or balance disorder(tremulous movement of limbs, stiffness and jerkiness in limbs), ataxia of gait and/or tremulous movement of limbs
  • Behavioral uniqueness: any combination of frequent laughter/smiling,easily excitable personality,apparent happy demeanor ,often with hand flapping movements; short attention span and hyperactivityFrequent (more than 80%)

Frequent/Usually Seen (more than 80%)

  • Small head size – often by age two years; *Seizures – onset usually before three years of age; *Abnormal EEG (brain wave pattern irregularity).
  • Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
  • Seizures, onset usually < 3 years of age

Associated/Frequent (20 – 80%)

  • Hyperactive tendon reflexes
  • Hypo pigmented skin, light hair and eye colour (compared to family), a feature in deletion cases
  • Tongue thrusting; suck/swallowing disorders
  • ??Strabismus
  • Feeding problems during infancy
  • Uplifted, flexed arms during walking
  • Prominent mandible
  • Increased sensitivity to heat
  • Wide mouth, wide-spaced teeth
  • Sleep disturbance
  • Flat back of head(Flat occiput)
  • Attraction to/fascination with water
  • Excessive chewing/mouthing behaviors
  • Frequent drooling, protruding tongue


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