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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability

Authors :
Caitlin M. Hudac
Nicole R. Friedman
Victoria R. Ward
Rachel E. Estreicher
Grace C. Dorsey
Raphael A. Bernier
Evangeline C. Kurtz-Nelson
Rachel K. Earl
Evan E. Eichler
Emily Neuhaus
Source :
Journal of Autism and Developmental Disorders. 2024 54(6):2386-2401.
Publication Year :
2024

Abstract

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which [approximately] 70% have a known pathogenic genetic etiology. Caregivers endorsed poor registration (i.e., high sensory threshold, passive behaviors) for all genetic subgroups relative to an "idiopathic" comparison group with an ASD diagnosis and without a known genetic etiology. Genetic profiles indicated prominent sensory seeking in "ADNP," "CHD8," and "DYRK1A," prominent sensory sensitivities in "SCN2A," and fewer sensation avoidance behaviors in "GRIN2B" (relative to the idiopathic ASD comparison group).

Details

Language :
English
ISSN :
0162-3257 and 1573-3432
Volume :
54
Issue :
6
Database :
ERIC
Journal :
Journal of Autism and Developmental Disorders
Publication Type :
Academic Journal
Accession number :
EJ1426469
Document Type :
Journal Articles<br />Reports - Research
Full Text :
https://doi.org/10.1007/s10803-023-05897-9