Angelman Syndrome

Angelman syndrome

Annotated Bibliography

Kristiin Mets

Clayton State University

Abstract

Named for the English pediatrician Dr. Harry Angelman who identified and first mentioned it in 1965, Angelman Syndrome is a rare neuro-genetic disorder that occurs in on in 15,000 live births. AS is an example of genomic imprinting that is caused by the mutations in the gene, UBE3A located on chromosome 15. Angelman Syndrome is characterized by severe intellectual and developmental disability, seizures, jerky movements, sleep disturbance, frequent laughing or smiling, and usually a happy demeanor. Because of their youthful, happy appearance and because of the syndrome’s name, people with AS disorder are often referred as “Angels”.

A couple of years ago in biology class we talked about different developmental disorders and how they affect people and their lives. The one I remember the most is Angelman Syndrome and that is why on my research I chose to look at the effects the syndrome has on people diagnosed with Angelman Syndrome. I focused on the behavioral changes, relationships and also, tried to find out if there is a drug or treatment to make their lives a bit easier.

Brun Gasca, C., Obiols, J. E., Bonillo, A., Artigas, J., Lorente, I., Gabau, E., & ... Turk, J. (2010). Adaptive behaviour in Angelman syndrome: its profile and relationship to age. Journal Of Intellectual Disability Research, 54(11), 1024-1029.                                              This study tries to find out if there is a specific adaption behavior profile among the people with Angelman Syndrome. The areas the researches focused on were motor skills, language and communication, personal life skills and community life skills. As a result, none of the 25 people studied had reached a developmental age of 3 years. A specific behavior profile was found with social and communication skills as weaknesses and personal life skills emerged as relative strengths.

Didden, R., Korzilius, H., Kamphuis, A., Sturmey, P., Lancioni, G., & Curfs, L. (2006). Preferences in individuals with Angelman syndrome assessed by a modified Choice Assessment Scale. Journal of Intellectual Disability Research, 50(1), 54-60.               Since it is noted that individuals with AS tend to be attracted to and fascinated with water, the purpose of this study was to investigate the preferences in individuals with AS between water-related items and non-water-related items. This study confirms the clinical impressions of earlier studies stating that persons with AS have indeed strong interest in water-related items rather than interest in non-water-related items. Also, they are less likely to avoid items related to water than items that are not related to it.

Grieco, J. C., Ciarlone, S. L., Gieron-Korthals, M., Schoenberg, M. R., Smith, A. G., Philpot, R. M., ... Weeber, E. J. An open-label pilot trial of minocycline in children as a treatment for Angelman syndrome. (2014). BMC Neurology, 14(1), 42-59. Retrieved from http://www.biomedcentral.com/1471-2377/14/232                                                                   It has been said that minocycline has an ability to improve behavioral performance in humans with cognitive disruption. The purpose of this study was to determine the drug’s effect on the cognitive and behavioral manifestations of the disorder. As a result the measures (clinical and neuropsychological) suggest the drug causes improvements in the adaptive behaviors of children with Angelman syndrome.