The Angelman Syndrome

637 Words Feb 5th, 2018 2 Pages
It is a genetic disorder and Angelman noted the disease as a unique 'syndrome' by the presence of "several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter" (Stรถppler 2012: 1). Symptoms usually become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected. Although children with Angelman syndrome are prone to epileptic seizures from age two onward, their life expectancy is otherwise normal. Identifiers of Angelman syndrome include cognitive and developmental delays and problems with coordination of speech and movement (Stรถppler 2012:1). Children with Angelman syndrome are also often described as hyperactive. Children appear normal at birth but often begin to have feeding problems and do not meet expected developmental milestones.
The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will…
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