Angelman Syndrome
Introduction
Angelman syndrome is found in 1 of 10,000 births. It is a micro deletion syndrome affecting chromosome 15 involves a process of genomic imprinting where a sequence of genes from the maternal chromosome are silencing the critical corresponding genes from the fathers chromosome so that the end result is a defective chromosomal gene sequence in that region. This interferes with the fetal development and results in a series of changes in the person born with this chromosomal abnormality. The mirror image micro deletion syndrome of Angelman Syndrome is the Prader Willi syndrome, where the deletion of 15q11-q13 is paternally derived.
Signs and symptoms
In the case of Angelman syndrome there is a small head (microcephaly) and the individuals have mental retardation. Here is an image of a child with Angelman syndrome.
Their movements are puppet-like, but not truly ataxic. A person with Angelman syndrome will frequently burst out in unprovoked laughter. Seizures are also common and EEG recordings between seizures will show a characteristic pattern of bifrontal runs of notched slow waves. Sleep EEG’s show slow and sharp waves. The brain has normally folded surfaces (normal gyral development), but a mildly thinned grey matter layer (mild cerebral atrophy). The cerebellum shows marked atrophy.
Treatment
As this is a genetic syndrome, there is no treatment available. These individuals will need to live in a supportive environment and often end up in a specialized home that is equipped to deal with these patients.
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