Autism-World

Angelman Syndrome,short for AS,is an uncommon neurogenetic genetic disorder which was first described by pediatrician Dr. Harry Angelman in 1965. Dr. Harry Angelman is an English physician.He noted that all had a stiff, jerky gait, absent speech, excessive laughter and seizures. Other cases were eventually published but the condition was considered to be extremely rare at that time, and many physicians doubted its existence. But now it is believed thousands of Angelman Syndrome cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism or other childhood disorders.
Angelman syndrome is characterized by severe developmental delay or mental retardation, absence or near absence of speech, gait ataxia and/or tremulousness of the limbs,characteristic facial abnormalities, episodes of uncontrolled electrical activity in the brain (seizures),and prolonged episodes (paroxysms) of inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the “happy puppet” syndrome.
The genetic basis of Angelman Syndrome is very complex, but the majority of cases are due to a deletion of segment 15q11q13 on the maternally derived chromosome 15.The ubiquitin ligase gene (UBE3A) is found in the Angelman Syndrome chromosomal region. It codes for an enzyme that is a key part of a cellular protein degradation system. Angelman Syndrome is thought to occur when mutations in UBE3A disrupt protein break down during brain development.
Developmental delays are first noted at around six months of age; however, the unique clinical features of Angelman Syndrome do not become manifest until after one year of age, and it can take several years before the correct clinical diagnosis is obvious.

This entry was posted on Wednesday, March 21st, 2007 at 11:00 am and is filed under Angelman Syndrome.