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Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome

Authors

  • Andrea Diaz-Stransky,

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    • Andrea Diaz-Stransky, M.D. is a Psychiatry and Behavioral Neuroscience Trainee at Johns Hopkins University School of Medicine. She has a special interest in the field of Child Psychiatry, and focuses on characterizing behavioral phenotypes of genetic, metabolic and neurologic disorders. She is a member of the American Academy of Child and Adolescent Psychiatry and the American Psychiatric Association.

  • Elaine Tierney

    Corresponding author
    • KKI Psychiatry, Rm. 227A, 716 North Broadway, Baltimore, MD 21205.
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    • Elaine Tierney, M.D. is Director of Psychiatry at Kennedy Krieger Institute, and Associate Professor in the Department of Psychiatry and Behavioral Sciences at Johns Hopkins University School of Medicine. As a pediatric and adult psychiatrist, Dr. Tierney's special research interest has been in autism, genetic, metabolic and neurological disorders that cause behavioral disturbances. She is a member of the American Academy of Child and Adolescent Psychiatry, the American Psychiatric Association, the Maryland Psychiatric Society, and the Maryland Regional Council of Child and Adolescent Psychiatry.


  • How to cite this article: Diaz-Stransky A, Tierney E. 2012. Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome. Am J Med Genet Part C Semin Med Genet 160C: 295–300.

Abstract

The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith–Lemli–Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has identified increased rates of intellectual disability, language and motor developmental delay, repeated self-injury behaviors, sensory hyperreactivity, hyperactivity, affect dysregulation, and sleep disturbances. Some research has suggested that carriers of the gene mutation that results in SLOS display increased risk of suicidal behavior. Cholesterol dysregulation impairs neuroplasticity, which may be a mechanism underlying some of the mentioned abnormalities. Discrete positive effects have been reported with the use of cholesterol supplementation in the treatment of SLOS. Research has been limited by the small number of subjects available, and a limited understanding of lipid metabolism in the brain. Hopefully future research will help clarify the role that cholesterol plays in cognitive and behavioral abnormalities like the ones associated with SLOS. This would accelerate the development of treatments for SLOS, and perhaps also further understanding of non-syndromic psychiatric disorders such as autism and attention deficit hyperactivity disorder. © 2012 Wiley Periodicals, Inc.

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