Gonzalo Laje, M.D. M.H.Sc. is an Associate Clinical Investigator at the Intramural Research Program at the National Institute of Mental Health, NIH. He is board certified in General Psychiatry and holds a Master of Health Sciences in Clinical Research. His research interests include pharmacogenetics and psychiatric management of genetic disorders. He has been the recipient of multiple awards and he serves as member of the NIH SMS Research Team. Rebecca S. Morse, M.A., is an applied developmental psychology doctoral student at George Mason University in Virginia. She has spent the past 8 years at the NIH working with families of children and adults with Smith–Magenis syndrome. Her research interests include maladaptive and self-injurious behaviors, intellectual disabilities, family functioning, and issues of grief and bereavement.
Article first published online: 27 OCT 2010
Published 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Behavioral Phenotypes in Neurogenetic Syndromes
Volume 154C, Issue 4, pages 456–462, 15 November 2010
How to Cite
Laje, G., Morse, R., Richter, W., Ball, J., Pao, M. and Smith, A. C.M. (2010), Autism spectrum features in Smith–Magenis syndrome. Am. J. Med. Genet., 154C: 456–462. doi: 10.1002/ajmg.c.30275
The authors have no conflict of interest to report.
How to cite this article: Laje G, Morse R, Richter W, Ball J, Pao M, Smith ACM. 2010. Autism spectrum features in Smith–Magenis syndrome. Am J Med Genet Part C Semin Med Genet 154C:456–462.
- Issue published online: 27 OCT 2010
- Article first published online: 27 OCT 2010
- Intramural Research Programs of the National Institute of Mental Health and the National Human Genome Research Institute, NIH, USDHHS
- del 17p11.2;
- microdeletion syndrome;
- behavioral phenotype;
- social communication
Smith–Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well-defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic-like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T-scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene–brain–behavior interactions in SMS and autism spectrum disorders. Published 2010 Wiley-Liss, Inc.