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Journal of Autism and Developmental Disorders

Gepubliceerd in:

08-04-2023 | S:I: .Developmental Approach and Targeted Treatment of Sensory Alterations

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

Auteurs: 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

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2024

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 ~ 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).

vorige artikel Do Children Think it is Important to Predict Learning and Behaviour Problems, and Do They Think Genetic Screening Has a Role to Play in This?

volgende artikel Brief Report: A Specialized Fitness Program for Individuals with Autism Spectrum Disorder Benefits Physical, Behavioral, and Emotional Outcomes

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Please note that we have elected to use the term autism spectrum disorder (abbreviated to ASD) to describe certain subgroups throughout this manuscript, in part because our goal is to examine differences based upon the specific DSM-V diagnostic category. Recent guidance endorses the exclusive use of “identity-first” language (Dwyer 2022; Kenny et al., 2016). However, we note that language consensus is less clear for our sample that is uniquely saturated by presence of known genetic etiologies and co-occurring intellectual disability (> 60%). Thus, because our comparison group is unified in that the participants have an ASD diagnosis and do not have a known genetic etiology, we use the term “idiopathic ASD” to reference this group.

Here, we use the term ‘modulation’ based upon the definitions used by Dunn and colleagues in the Sensory Profile measure (W Dunn 1999) and subsequent publications (Ben-Sasson et al., 2007, 2009; Mulligan 2002). These sources describe sensory modulation as the regulation and management of one’s response to sensory input in a graded and adaptive manner.

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Titel: Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability
Auteurs: 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
Publicatiedatum: 08-04-2023
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 6/2024
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-023-05897-9

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