Clinical Features in Angelman Syndrome
March 21st, 2007Always 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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