Journal of Pediatric Psychology Advance Access originally published online on March 8, 2006
Journal of Pediatric Psychology 2006 31(9):945-955; doi:10.1093/jpepsy/jsj106
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Published by Oxford University Press 2006
Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects
1 Division of Human and Molecular Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, 2 Shriners Hospitals for Children-Philadelphia, 3 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 4 Kennedy Krieger Institute, Johns Hopkins University, School of Medicine, 5 Division of Endocrinology, Department of Pediatrics, The Children’s Hospital of Philadelphia, 6 McDermott Center for Human Growth and Development and Department of Internal Medicine, University of Texas Southwestern Medical School, and 7 Department of Pediatrics, Thomas Jefferson University and duPont Hospital for Children
All correspondence concerning this article should be addressed to Maximilian Muenke, MD, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive - MSC 3717, Building 35, Room 1B-203, Bethesda, Maryland 20892-3717. E-mail: mmuenke{at}nhgri.nih.gov.
Received July 15, 2005; revision revised October 31, 2005, February 1, 2006; accepted February 9, 2006
Background Turner syndrome (TS) results from the loss of part or all of one X chromosome in females. It can result in short stature, various dysmorphic findings, and difficulties with psychosocial adjustment. Girls with TS have previously been found to exhibit increased levels of hyperactivity and inattention. However, no studies have assessed whether individuals with TS meet strict (DSM-IV) criteria for attention-deficit/hyperactivity disorder (ADHD). Objective We looked at the prevalence of ADHD in girls with TS and evaluated the contribution of imprinting on cognitive performance (IQ) and ADHD. Methods We tested 50 girls with TS for ADHD, IQ, academic performance, and parental origin of the X chromosome. Results We report an 18-fold increase in the prevalence of ADHD in girls with TS (24%) compared with girls in the general population (1.3%) (p < .01) and a 4.8 fold increase when compared with boys and girls in the general population (5%) (p < .05). In contrast to previous reports, our molecular studies in females with 45,X also showed no association between IQ scores and the parental origin of the intact X chromosome. Conclusions We find an increased prevalence of ADHD in girls with TS but no evidence for imprinting effects for cognitive performance.
Key words: ADHD; imprinting; social cognition; Turner syndrome; X-inactivation.
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