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Journal article
Variegation of autism related traits across seven neurogenetic disorders
Translational psychiatry, v 12(1), pp 149-149
07 Apr 2022
PMID: 35393403
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Gene dosage disorders (GDDs) constitute a major class of genetic risks for psychopathology, but there is considerable debate regarding the extent to which different GDDs induce different psychopathology profiles. The current research speaks to this debate by compiling and analyzing dimensional measures of several autism-related traits (ARTs) across seven diverse GDDs. The sample included 350 individuals with one of 7 GDDs, as well as reference idiopathic autism spectrum disorder (ASD; n = 74) and typically developing control (TD; n = 171) groups. The GDDs were: Down, Williams-Beuren, and Smith-Magenis (DS, WS, SMS) syndromes, and varying sex chromosome aneuploidies ("plusX", "plusXX", "plusY", "plusXY"). The Social Responsiveness Scale (SRS-2) was used to measure ARTs at different levels of granularity-item, subscale, and total. General linear models were used to examine ART profiles in GDDs, and machine learning was used to predict genotype from SRS-2 subscales and items. These analyses were completed with and without covariation for cognitive impairment. Twelve of all possible 21 pairwise GDD group contrasts showed significantly different ART profiles (7/21 when co-varying for IQ, all Bonferroni-corrected). Prominent GDD-ART associations in post hoc analyses included relatively preserved social motivation in WS and relatively low levels of repetitive behaviors in plusX. Machine learning revealed that GDD group could be predicted with plausible accuracy (~60-80%) even after controlling for IQ. GDD effects on ARTs are influenced by GDD subtype and ART dimension. This observation has consequences for mechanistic, clinical, and translational aspects of psychiatric neurogenetics.
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Details
- Title
- Variegation of autism related traits across seven neurogenetic disorders
- Creators
- Nancy Raitano Lee - Drexel UniversityXin Niu - Drexel UniversityFengqing Zhang - Drexel UniversityLiv S Clasen - National Institute of Mental HealthBeth A Kozel - National Heart Lung and Blood InstituteAnn C M Smith - National Human Genome Research InstituteGregory L Wallace - George Washington UniversityArmin Raznahan - Section on Developmental Neurogenomics, Human Genetics Branch, Division of Intramural Research at the National Institute of Mental Health, National Institutes of Health, Bethesda, MD, 20892, USA. raznahana@mail.nih.gov.
- Publication Details
- Translational psychiatry, v 12(1), pp 149-149
- Publisher
- Springer Nature
- Grant note
- ZIA MH002949 / Intramural NIH HHS Z01 HG200352 / Intramural NIH HHS ZIA HL006212 / Intramural NIH HHS 1ZIAMH002949-04 / NIMH NIH HHS R21 HD100997 / NICHD NIH HHS Z01 HG000109 / Intramural NIH HHS R21 HD106164 / NICHD NIH HHS ZID HG200352 / Intramural NIH HHS
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychological and Brain Sciences (Psychology)
- Web of Science ID
- WOS:000779361900004
- Scopus ID
- 2-s2.0-85128058276
- Other Identifier
- 991019168727604721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Psychiatry