ERIC Number: EJ1426469
Record Type: Journal
Publication Date: 2024-Jun
Pages: 16
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-0162-3257
EISSN: EISSN-1573-3432
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
Journal of Autism and Developmental Disorders, v54 n6 p2386-2401 2024
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).
Descriptors: Genetics, Etiology, Comparative Analysis, Profiles, Autism Spectrum Disorders, Symptoms (Individual Disorders), Clinical Diagnosis, Intellectual Disability, Identification, Caregiver Attitudes, Sensory Integration, Behavior Patterns
Springer. Available from: Springer Nature. One New York Plaza, Suite 4600, New York, NY 10004. Tel: 800-777-4643; Tel: 212-460-1500; Fax: 212-460-1700; e-mail: customerservice@springernature.com; Web site: https://bibliotheek.ehb.be:2123/
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: National Institute of Mental Health (NIMH) (DHHS/NIH)
Authoring Institution: N/A
Grant or Contract Numbers: R01MH100047; R01MH101221