Enriched Biology, Hour 5
April 17, 2013
Angelman syndrome is a neuro-genetic disorder. It causes speech impairment, developmental delay, ataxia (imbalance and uncoordinated movement), scoliosis (curvature of the spine), and unique behavior including: frequent laughter or smiling, jerky movements or hand-flapping, and an unusually happy demeanor. Many cases also involve microcephaly (small head size) and seizures, as well as hypopigmentation (undercoloration of the hair, skin and eyes), abnormal sleep cycles, and a fascination with water (“NINDS”).
In 1965, Harry Angelman discovered what was originally titled “happy puppet syndrome”, due to the frequent smiling and hand-flapping movements of children with the disorder. The name seemed derogatory, and was eventually changed to Angelman syndrome (Williams, Peters, and Calculator 3). Doctor Joseph E. Wagstaff diagnosed and treated many patients with AS and made many discoveries about it, which greatly contributed to today’s understanding of the disorder. Doctors Ype Elgersma and Ed Weeber discovered that inhibition of CaMK2 (a gene essential for learning) is responsible for neurological deficits in patients with Angelman syndrome (Angelman). AS was (and still is) often misdiagnosed as Down syndrome or ADD/ADHD. The first cases of Angelman syndrome didn’t show up in North America until the early 1980s.
AS is very rarely inherited, and anyone is susceptible to it, even without a family history of it. The odds of having it are one out of fifteen thousand. It is caused by either a mutation in or an absence of the maternal copy of the Ube3A gene on chromosome fifteen. Many parts of your brain only use the maternal copy of this gene, and if it is absent or damaged, the result is Angelman syndrome (“Angelman”, Genetics). When the paternal copy is absent or damaged, the result is an entirely different disorder: Prader-Willi syndrome (“Related”).