Angelman Syndrome Essay

Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically, the first noticeable sign is usually feeding problems or a delay in development. It is caused by a deletion or mutation, such as translocation, in Chromosome 15, long arm q, band 12. Some references note the affected region as bands 11.2-13. This area

Also a distinct feature in those affected is a happy and excitable demeanor coupled with frequent smiling and/or outbursts of laughs. Other major clinical features include: severe developmental delays or intellectual disability (mental retardation), ataxia or loss of control of bodily movements which leads to balance disorder, sudden jerky movements or trembling of extremities, severe speech impairment, seizures or epilepsy, and hypopigmentation, which is the lightening of skin or hair color. Other complications associated with Angelman syndrome are sleep disorders, hyperactivity, scoliosis, and obesity. Infants with Angelman Syndrome have problems sucking and swallowing. Younger children experience increased motor activity, which may include moving from one activity to another in short amount of time or generally short attention span. Hyperactivity often subsides with age, and medication usually isn't necessary. Sleep disorders such as abnormal wake patterns or lack of sleep are very common among those with Angelman Syndrome. Drug or behavior therapy may help, but it may also lessen with age. Older children tend to be prone to obesity due to increased appetite. Scoliosis or curvature of the spine is not as common but may still occur in those