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Smith-Magenis Syndrome: A Case Study

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Discussing Smith - Magenis syndrome is based on the prevailing need of compiling evidence based information in regards to this genetic condition and its management for the therapists treating those patients in our agency. The development of this topic also obeys to the need of delivering positioning, handling, and activities guidelines to the teachers and families with children with this disorder at our practice. Potentially these principles can get translated to other genetic conditions with similar manifestations.
Smith – Magenis, also known as SMS, affects 1 in 25,000 individuals worldwide (Genetics Home Reference, 2017). Currently, at our clinic we have two female toddler patients with that diagnosis receiving educational and therapeutic services. Most people with this disorder have a deletion of a region of the chromosome material 17, specifically the loss of one particular gene: RAI1. SMS is a complex developmental condition affecting multiple functions of the body. Smith – Magenis’ patients present sleep disturbances, …show more content…
& Elsea, S.H. (2015). Smith – Magenis syndrome and its influence on development, behavior, and obesity – Own experience. Developmental Period Medicine 19 (2). 149-156.

Elsea, S.H. & Santhosh, G. (2008). Practical genetics. Smith – Magenis syndrome. European Journal of Human Genetics 16. 412 - 421. doi: 10.1038/sj.ejhg.5202009

Genetics Home Reference (2017). Smith -Magenis syndrome. Retrieved January 30, 2017 from: https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome#statistics

Guide to Physical Therapist Practice 3.0. Alexandria, VA: American Physical Therapy Association; 2014. Available at: http://guidetoptpractice.apta.org/. Accessed [January 30, 2017].

Nijim, Y., Adawi, A., Bisharat, B., & Bowirrat, A. (2016). First case report of Smith Magenis syndrome (SMS) among the Arab community in Nazareth: View and overview. Medicine 95 (3). p e2362. doi:

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