Association of Autistic Spectrum Disorders With Dystrophinopathies

Hinton, Veronica J.; Cyrulnik, Shana E.; Fee, Robert J.; Batchelder, Abigail; Kiefel, Jacqueline M.; Goldstein, Edward M.; Kaufmann, Petra; De Vivo, Darryl C.

doi:10.1016/j.pediatrneurol.2009.05.011

« Previous Next »Pediatric Neurology
Volume 41, Issue 5 , Pages 339-346, November 2009

Association of Autistic Spectrum Disorders With Dystrophinopathies

Veronica J. Hinton, PhD
- Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York
- Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
- Communications should be addressed to: Dr. Hinton; Gertrude H. Sergievsky Center and Department of Neurology; College of Physicians and Surgeons; Columbia University; 630 West 168th Street, P & S Box 16; New York, NY 10032.
Shana E. Cyrulnik, PhD
- Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York
Robert J. Fee, BA
- Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York
Abigail Batchelder, MA
- Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York
Jacqueline M. Kiefel, PhD
- Department of Neuropsychology, Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia
Edward M. Goldstein, MD
- Department of Neurology, Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia
Petra Kaufmann, MD
- Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
Darryl C. De Vivo, MD
- Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York
- Department of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York

Received 18 March 2009; accepted 28 May 2009.

Parents of 85 boys with dystrophinopathies and 51 sibling controls completed the Social Communication Questionnaire, describing child behaviors associated with autism spectrum disorders and a rating of parental stress. Twenty-one boys with dystrophinopathies and no siblings received scores above the cut-point for possible autistic spectrum disorders. Mothers of identified children were given detailed interviews using the Autism Diagnostic Interview-Revised, and 16 boys (about 19% of the sample) met the criteria for autism spectrum disorders. Significant qualitative abnormalities in reciprocal social interactions and communication were evident in all, whereas restricted and repetitive behaviors were generally less pronounced in the group. Moreover, parents of boys with dystrophinopathy and autism spectrum disorders demonstrated significantly higher ratings of stress than parents of boys with dystrophinopathy alone. Increased attention to behavioral concerns associated with dystrophinopathies is necessary to ensure the well-being of the whole family.