Autism spectrum features in Smith–Magenis syndrome

Authors

  • Gonzalo Laje,

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    • 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.

  • Rebecca Morse,

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    • 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.

  • William Richter,

  • Jonathan Ball,

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    • Jonathan W. Ball and William Richter, both special volunteers in the Office of the Clinical Director, NHGRI/NIH worked with the SMS Research Team between 2007 and 2009. Mr. Richter received a B.S. in Biology and Society from Cornell University and worked for 5 years as a behavioral therapist with children with autism; he is entering his 2nd year of medical school at Georgetown University, Washington, DC. Jonathan Ball received a B.S. in Psychology from Towson University, Towson, MD and, after completing his pre-health post-baccalaureate studies at University Maryland, College Park, MD, he hopes to pursue a medical degree.

  • Maryland Pao,

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    • Maryland Pao, M.D., is the Clinical Director of the National Institute of Mental Health. She serves as Chief of the Psychiatry Consultation Liaison Service in the Hatfield Clinical Research Center at NIH and is the NIMH Clinical Fellowship Training Director. Board certified in Pediatrics, General Psychiatry, Child and Adolescent Psychiatry and Psychosomatic Medicine, her core research interests are in the complex interactions between somatic and psychiatric illnesses.

  • Ann C.M. Smith

    Corresponding author
    • Office of the Clinical Director, National Human Genome Research Institutes, NIH, 10 Center Drive, MSC 1851, Bldg. 10, room 10C103, Bethesda, MD 20892-1851.
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    • Ann C.M. Smith, M.A., D.Sc. (Hon), is a board certified genetic counselor in the Office of the Clinical Director, Division of Intramural Research of the National Human Genome Research Institute. In collaboration with an interdisciplinary team of intramural investigators at the NIH Hatfield Clinical Research Center, she is adjunct principal investigator of two protocols studying Smith–Magenis syndrome (SMS), a syndrome she described in the early 1980s. As a senior genetic counselor member of the NHGRI/NIH medical genetics consult service, she provides support to NIH investigators on issues related to medical genetics, genetic counseling, and molecular genetic testing.


  • 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.

Abstract

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.

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