Angelman syndrome?

Question

what are the some facts about angelman syndrome?

Answer 1

Angelman syndrome, caused by a genetic defect on chromosome 15, includes developmental delay, near absence of speech, and facial abnormalities. The most striking characteristic of someone with Angelman syndrome, though, is the appearance of being happy most of the time, with frequent smiling and prolonged episodes of laughter.

Angelman syndrome may occur in people of all ethnic backgrounds. About 70-75% of individuals born with Angelman syndrome have no family history of the disorder.

Symptoms

Individuals with Angelman syndrome share common characteristics:

Developmental delay and functional impairment

Disparity between understanding language and speaking; speaks few or no words; may be able to use nonverbal gestures

Short attention span, hyperactivity, easily excitable, appears happy, frequent smiling and/or laughing

Difficulty with movement or balance, including difficulty walking and/or tremors of limbs.

In addition, individuals with Angelman syndrome may have:

Seizures of any type

Delayed, disproportionate growth of head in childhood

Hypopigmented skin and eyes

Wide mouth, widely-spaced teeth, protruding tongue, drooling, feeding problems and frequently putting things in the mouth during infancy

Sleep disturbance.

Answer 2

This is a complex syndrome that affects the nervous system. There is usually mental retardation, speech deficits, seizures and small head size. Weirdly many of these people are blond. They tend to be happy, excitable kids who often mouth objects and flap their hands.

It is usually caused by an inactive gene inherited from the mother. Normally each parent has a copy of a certain gene. When the mother's copy is inactive, then Angelman's will be evident.

Answer 3

There is an Angelman syndrome website - google it!

Answer 4

I know these sites are excellent-

http://en.wikipedia.org/wiki/Angelman_Sy...

http://www.neuroguide.com/