Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD
Phelan–McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current study delineates the sensory reactivity phenotype a...
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doaj-90306f34e30a4a72962dedfae3fcae002021-07-23T13:41:40ZengMDPI AGGenes2073-44252021-06-011297797710.3390/genes12070977Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASDTeresa Tavassoli0Christina Layton1Tess Levy2Mikaela Rowe3Julia George-Jones4Jessica Zweifach5Stacey Lurie6Joseph D. Buxbaum7Alexander Kolevzon8Paige M. Siper9School of Psychology and Clinical Language Sciences, University of Reading, Berkshire RG6 6BZ, UKSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USASeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USARadiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA 94143, USASchool of Psychology, University of Texas at Austin, Austin, TX 78712, USASeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USAFerkauf Graduate School of Psychology, Yeshiva University, Bronx, NY 10461, USASeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USASeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USASeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USAPhelan–McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current study delineates the sensory reactivity phenotype and examines genotype–phenotype interactions in a large sample of children with PMS. Sensory reactivity was measured in a group of 52 children with PMS, 132 children with iASD, and 54 typically developing (TD) children using the Sensory Assessment for Neurodevelopmental Disorders (SAND). The SAND is a clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on the DSM-5 criteria for ASD. Children with PMS demonstrated significantly greater hyporeactivity symptoms and fewer hyperreactivity and seeking symptoms compared to children with iASD and TD controls. There were no differences between those with Class I deletions or sequence variants and those with larger Class II deletions, suggesting that haploinsufficiency of <i>SHANK3</i> is the main driver of the sensory phenotype seen in PMS. The syndrome-specific sensory phenotype identified in this study is distinct from other monogenic forms of ASD and offers insight into the potential role of <i>SHANK3</i> deficiency in sensory reactivity. Understanding sensory reactivity abnormalities in PMS, in the context of known glutamatergic dysregulation, may inform future clinical trials in the syndrome.https://www.mdpi.com/2073-4425/12/7/977Phelan–McDermid syndromeautism spectrum disordersensory reactivity |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Teresa Tavassoli Christina Layton Tess Levy Mikaela Rowe Julia George-Jones Jessica Zweifach Stacey Lurie Joseph D. Buxbaum Alexander Kolevzon Paige M. Siper |
spellingShingle |
Teresa Tavassoli Christina Layton Tess Levy Mikaela Rowe Julia George-Jones Jessica Zweifach Stacey Lurie Joseph D. Buxbaum Alexander Kolevzon Paige M. Siper Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD Genes Phelan–McDermid syndrome autism spectrum disorder sensory reactivity |
author_facet |
Teresa Tavassoli Christina Layton Tess Levy Mikaela Rowe Julia George-Jones Jessica Zweifach Stacey Lurie Joseph D. Buxbaum Alexander Kolevzon Paige M. Siper |
author_sort |
Teresa Tavassoli |
title |
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD |
title_short |
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD |
title_full |
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD |
title_fullStr |
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD |
title_full_unstemmed |
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD |
title_sort |
sensory reactivity phenotype in phelan–mcdermid syndrome is distinct from idiopathic asd |
publisher |
MDPI AG |
series |
Genes |
issn |
2073-4425 |
publishDate |
2021-06-01 |
description |
Phelan–McDermid syndrome (PMS) is one of the most common genetic forms of autism spectrum disorder (ASD). While sensory reactivity symptoms are widely reported in idiopathic ASD (iASD), few studies have examined sensory symptoms in PMS. The current study delineates the sensory reactivity phenotype and examines genotype–phenotype interactions in a large sample of children with PMS. Sensory reactivity was measured in a group of 52 children with PMS, 132 children with iASD, and 54 typically developing (TD) children using the Sensory Assessment for Neurodevelopmental Disorders (SAND). The SAND is a clinician-administered observation and corresponding caregiver interview that captures sensory symptoms based on the DSM-5 criteria for ASD. Children with PMS demonstrated significantly greater hyporeactivity symptoms and fewer hyperreactivity and seeking symptoms compared to children with iASD and TD controls. There were no differences between those with Class I deletions or sequence variants and those with larger Class II deletions, suggesting that haploinsufficiency of <i>SHANK3</i> is the main driver of the sensory phenotype seen in PMS. The syndrome-specific sensory phenotype identified in this study is distinct from other monogenic forms of ASD and offers insight into the potential role of <i>SHANK3</i> deficiency in sensory reactivity. Understanding sensory reactivity abnormalities in PMS, in the context of known glutamatergic dysregulation, may inform future clinical trials in the syndrome. |
topic |
Phelan–McDermid syndrome autism spectrum disorder sensory reactivity |
url |
https://www.mdpi.com/2073-4425/12/7/977 |
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