Angelman Syndrome: Term 2

Name: Mehak Sikka
Url: http://www.medicinenet.com/angelman_syndrome/article.htm

Angelman syndrome is a genetic condition that is present at birth (congenital). It causes intellectual disability and other features. Other characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems and hyperactive behaviour. In most cases, the cause is a missing section (deletion) on the mother’s copy of chromosome 15. Angelman syndrome was once known as ‘happy puppet syndrome’ because of the child’s sunny outlook and jerky movements. It is now called Angelman syndrome after Harry Angelman, the doctor who first investigated the symptoms in 1965. Most diagnoses are made between the ages of three and seven years of age. Estimates vary, but Angelman syndrome is thought to affect one child in every 10,000 to 25,000.   Angelman syndrome may be mistaken for autism because of similar symptoms, including hyperactive behaviour, speech problems and hand flapping. However, a child with Angelman syndrome is highly sociable, unlike a child with autism. It is important that the child is carefully diagnosed, because sometimes Angelman syndrome and autism are both present. There is no cure for Angelman syndrome.  

In our class, during the Unit on molecular genetics, we learned about a few genetic disorders and what can happen when genetic mutations take place in DNA sequences. We learned about chromosomal mutations too. This is how Angel man syndrome relates to what we've learned during Term 2.