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Harry and Audrey attended several ASF meetings and Audrey corresponded with many US families.
Dr. Harry Angelman (1915-1996)
and hif wife, Audrey (1936-1999)
In 1965, Dr. Harry Angelman, an English physician, first described three children with characteristics now known as the Angelman syndrome (AS). He noted that Angelman syndrome is a genetic disorder that is particular to chromosome 15. This genetically based neurological disorder causes general developmental delays, epilepsy and absence of speech. Still today, Angelman syndrome is relatively unknown and often undiagnosed.
According to the survey by Charles Williams, MD, reviewed in 2008,
The prevalence of Angelman syndrome in individuals is around 1:15,000
According to the Clinical Genetic Service, Department of Health, more than 50 cases
were diagnosed in Hong Kong. On average three to five new cases were confirmed annually in the last 5 years.
Angelman syndrome is usually not recognized in early infancy since the developmental problems are nonspecific during this time. The most common age of diagnosis is between two and five years when the characteristic behaviors and features become most evident.
1. Important Developmental Delays
2. Absence of Speech
3. Movement or Balance Disorder
4. Happy Demeanour
5. Epileptic Seizures
6. Sleep Disturbances
7. Strabismus
8. Wide Mouth, Widely Spaced Teeth
9. Feeding Problems, Tongue Thrust, Suck/ Swallow Disorders
In general, all of the AS genetic mechanisms lead to a somewhat uniform clinical picture of severe to profound mental retardation, characteristic behaviors, and severe limitations in speech and language. These correlations are broadly summarized as :
1. Chromosome Deletion ~70%
2. UBE3A Mutation 5-10%
3. Imprinting Center Defect 3-5%
4. Paternal Uniparental Disomy (UPD) 2-3%
5. Other chromosome Rearrangements 1-2%
6. Unknown 10-15%
In general, all of the AS genetic mechanisms lead to a somewhat uniform clinical picture of severe to profound mental retardation, characteristic behaviors, and severe limitations in speech and language.
Source: 7th edition Facts about Angelman Syndrome by Charles A. Williams, M.D., Sarika U. Peters, Ph.D., Stephen N. Calculator, Ph.D. in 2009
In the event of any discrepancy, the English original shall prevail.
Special thanks to SPEAR Translation sponsors and provides Chinese translation.
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