2016 Volume 27 Issue 3 Pages 243-256
Smith-Magenis Syndrome (SMS) is a genetic disease associated with intellectual disability, caused by deletions and mutations of the RAI1 gene on chromosome 17p11.2. The syndrome prevalence is now estimated to be 1/15,000 births. This syndrome is characterized by complex clinical features, sleep disturbance and behavior problems. Behavior problems are most difficult for caregivers to manage. In Japan, especially in the areas of special needs education and welfare service, SMS is less well-known than other syndromes with a genetic basis. In this article, the authors review the literature on behavioral and cognitive profiles of SMS along with its associated clinical features and environmental correlates. As a result, disobedience, aggression, self-injury and property destruction were the most frequently reported behavior problems. These maladaptive behaviors were mostly associated with attention seeking function. Moreover, there were several syndrome-specific biological factors such as hearing loss, eye abnormalities, and peripheral neuropathy. Finally, implications were discussed for the enhancement of further effective development support based on an understanding of the characteristics of SMS.
