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Niki & Lauren

Where on Chromosome is Problem?

With Angelman Syndrome, the fifteenth chromosome is deleted. Other causes include uniparental disomy (two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent), translocation (rearrangement of parts between nonhomologous chromosomes), or single gene mutation in that region.

What Is the Problem?

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 inmicrocephaly (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%)
  • Abnormal alignment of eyes
  • Unusual lack of color in skin and eyes
  • Tongue thrusting; suck/swallowing disorders
  • Hyperactive tendon reflexes
  • Feeding problems during infancy
  • Uplifted, flexed arms during walking
  • Prominent jaw
  • 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

What is the Prognosis?

The extent of Angelman Syndrome on each person varies slightly. While some may have the ability to take care of themselves and use some speech, others cannot use the simplest of sign language or even walk. Early and continued participation in physical, occupational, and communication therapies are believed to improve significantly the prognosis. Hyperactivity and poor sleep patterns improve as time goes on and the frequency of seizures decrease and may even stop altogether. Many adults appear remarkably young for their age because of the features that Angelman Syndrome is usually associated with. Angelman syndrome is not a degenerative syndrome.

Cite Your Sources

http://en.wikipedia.org/wiki/Angelman_syndrome
http://www.angelman.org/