NotesFAQContact Us
Collection
Advanced
Search Tips
Peer reviewed Peer reviewed
Direct linkDirect link
ERIC Number: EJ866806
Record Type: Journal
Publication Date: 2009
Pages: 15
Abstractor: As Provided
Reference Count: 41
ISBN: N/A
ISSN: ISSN-1931-5864
Smith-Magenis Syndrome: Genetic Basis and Clinical Implications
Finucane, Brenda; Haas-Givler, Barbara
Journal of Mental Health Research in Intellectual Disabilities, v2 n2 p134-148 2009
Smith-Magenis syndrome (SMS) is a neurobehavioral disorder associated with deletions and mutations of the "RAI1" gene on chromosome 17p11.2. Clinical features of the syndrome include intellectual disability, sleep disturbance, craniofacial differences, and a distinctive profile of stereotypic and self-injurious behaviors. Although the functional role of "RAI1" and neighboring genes is not completely understood, disruption of these genes is thought to contribute to specific clinical features of the disorder. Maladaptive behaviors in people with SMS appear to reflect a complex interplay between physiology and environment that may be further compounded by an underlying developmental asynchrony. Management requires a multidisciplinary approach and involves treatment for sleep disturbance, speech and occupational therapies, medical monitoring, educational and behavioral interventions, and family support. (Contains 3 figures.)
Routledge. Available from: Taylor & Francis, Ltd. 325 Chestnut Street Suite 800, Philadelphia, PA 19106. Tel: 800-354-1420; Fax: 215-625-2940; Web site: http://www.tandf.co.uk/journals
Publication Type: Journal Articles; Reports - Descriptive
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A