Angelman syndrome

Angelman syndrome is a genetic disorder affecting the nervous system. It was first described by British Pediatrician, Harry Angelman M. D. in 1965. He initially referred it as “Happy puppet syndrome”.

Characteristic features:

Main features of this syndrome are as follows:

1. Delay in development

2. Intellectual disability

3. Serious type of impairment in speech

4. Movement and balance impairment

5. Broad flat nose

6. Fascination with water

7. High forehead

8. Large distance between eyes

9. sleep problems

10. walks with feet far apart

11. widely spaced teeth

Affected children may have epileptic seizures and a small sized head.

Children with this syndrome have a happy and excitable type of behavior with smiling and hand movements in a flapping manner. These signs start in the age of 6-12 months of age. These children have short attention span and are hyperactive.

The most common age of diagnosis is 3-7 years.

Number of cases of disease (prevalence):

1 in 12,000-20,000 people are affected by this Angelman syndrome.

Cause of Angelman Syndrome:

Angelman Syndrome is caused when the gene UBE3A (aAngelman syndrome gene) is turned off in the children.

References and Further Reading:

Alphabet Kids: From ADD to Zellweger Syndrome: A Guide to Developmental, Neurobiological and Psychological Disorders for Parents and Professionals by Robbie Woliver. Jessica Kingsley Publishers, 2008

http://ghr.nlm.nih.gov/condition/angelman-syndrome accessed August 06, 2011.

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