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The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? |
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| Authors: | Angela L Rachubinski Susan Hepburn Ellen R Elias Katheleen Gardiner Tamim H Shaikh |
| Institution: | 1. JFK Partners, Section of Developmental Pediatrics, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA;2. Department of Human Development and Family Studies, Colorado State University, Fort Collins, CO, USA;3. Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA
Special Care Clinic, Children's Hospital Colorado, Aurora, CO, USA;4. Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA Linda Crnic Institute for Down Syndrome, University of Colorado Denver School of Medicine, Aurora, CO, USA;5. Section of Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, CO, USA |
| Abstract: | Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS. Because all individuals with the classic presentation of DS have trisomy 21, it is possible that those with co-occurring DS and ASD may have additional genetic variants which can act as modifiers of the phenotype, leading to the development of ASD. © 2016 John Wiley & Sons, Ltd. |
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