Abstract
Phelan–McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype.
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Acknowledgments
We would like to thank all the participants for taking part in our research, as well as the Autism Treatment Network for access to its database and technical support. This Network activity was supported by Autism Speaks and cooperative agreement UA3 MC11054 through the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Research Program to the Massachusetts General Hospital. This work was conducted through the Autism Speaks Autism Treatment Network. This work was supported by grants from the Beatrice and Samuel A. Seaver Foundation and the American Academy of Child and Adolescent Psychiatry/Campaign for America’s Kids Summer Medical Student Fellowship (AM), T. T. received funding from the Wallace Research Foundation, the Seaver Foundation and the Autism Science Foundation during the period of this work. A. K. received research support from NIMH (R34 MH100276-01), NINDS (U54 NS092090-01), the Autism Science Foundation, the Seaver Foundation, Hoffmann-La Roche, and Neuren Pharmaceuticals.
Author Contributions
All authors contributed extensively to the work presented in this paper. AM designed the study, collected and analyzed the data, wrote the initial draft of the paper, and participated in revising the manuscript and addressing the reviewers’ comments. AK and TT helped with designing the study. TT helped with data analysis. SL, ATW and AK helped with testing and data acquisition. All authors assisted with manuscript development and participated in revising the manuscript and addressing the reviewers’ comments.
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Mieses, A.M., Tavassoli, T., Li, E. et al. Brief Report: Sensory Reactivity in Children with Phelan–McDermid Syndrome. J Autism Dev Disord 46, 2508–2513 (2016). https://doi.org/10.1007/s10803-016-2754-0
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DOI: https://doi.org/10.1007/s10803-016-2754-0