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

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

doi:10.1007/s10803-023-05897-9

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

J Autism Dev Disord. 2023 Apr 8:1-16. doi: 10.1007/s10803-023-05897-9. Online ahead of print.

Authors

Caitlin M Hudac^{1

2

3}, Nicole R Friedman^{4

5}, Victoria R Ward^{4

5}, Rachel E Estreicher^{4

5}, Grace C Dorsey^{4

5}, Raphael A Bernier⁶, Evangeline C Kurtz-Nelson⁷, Rachel K Earl⁶, Evan E Eichler^{8

9}, Emily Neuhaus^{6

10}

Affiliations

¹ Department of Psychology, University of South Carolina, 1800 Gervais Street, Columbia, SC, 29201, USA. chudac@mailbox.sc.edu.
² Department of Psychology, University of Alabama, Tuscaloosa, AL, USA. chudac@mailbox.sc.edu.
³ Carolina Autism and Neurodevelopment Research Center, University of South Carolina, Columbia, SC, USA. chudac@mailbox.sc.edu.
⁴ Center for Youth Development and Intervention, University of Alabama, Tuscaloosa, AL, USA.
⁵ Department of Psychology, University of Alabama, Tuscaloosa, AL, USA.
⁶ Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
⁷ Department of Pediatrics, Indiana University, Indianapolis, IN, USA.
⁸ Department of Genome Sciences, University of Washington, Seattle, WA, USA.
⁹ Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
¹⁰ Seattle Children's Research Institute, Seattle, WA, USA.

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 ~ 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).

Keywords: Autism spectrum disorder; Genetic subgroups; Intellectual disability; Sensory behaviors.

Abstract

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