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Journal article
Patterns of psychopathology and cognition in sex chromosome aneuploidy
Journal of neurodevelopmental disorders, v 13(1), pp 61-61
15 Dec 2021
PMID: 34911436
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Sex chromosome aneuploidies (SCAs) are a collectively common family of genetic disorders that increase the risk for neuropsychiatric and cognitive impairment. Beyond being important medical disorders in their own right, SCAs also offer a unique naturally occurring model for studying X- and Y-chromosome influences on the human brain. However, it remains unclear if (i) different SCAs are associated with different profiles of psychopathology and (ii) the notable interindividual variation in psychopathology is related to co-occurring variation in cognitive ability.
We examined scores for 11 dimensions of psychopathology [Child/Adult Behavior Checklist (CBCL)] and general cognitive ability [full-scale IQ (FSIQ) from Wechsler tests] in 110 youth with varying SCAs (XXY = 41, XYY = 22, XXX = 27, XXYY = 20) and 131 typically developing controls (XX = 59, XY = 72).
All SCAs were associated with elevated CBCL scores across several dimensions of psychopathology (two-sample t tests comparing the euploidic and aneuploidic groups [all |T| > 9, and p < 0.001]). Social and attentional functioning were particularly sensitive to the carriage of a supernumerary Y-chromosome. In particular, the XYY group evidenced significantly more social problems than both extra-X groups (Cohen's d effect size > 0.5, Bonferroni corrected p < .05). There was marked variability in CBCL scores within each SCA group, which generally correlated negatively with IQ, but most strongly so for social and attentional difficulties (standardized β, - 0.3). These correlations showed subtle differences as a function of the SCA group and CBCL scale.
There is domain-specific variation in psychopathology across SCA groups and domain-specific correlation between psychopathology and IQ within SCAs. These findings (i) help to tailor clinical assessment of this common and impactful family of genetic disorders and (ii) suggest that dosage abnormalities of X- and Y-linked genes impart somewhat distinct profiles of neuropsychiatric risk.
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Details
- Title
- Patterns of psychopathology and cognition in sex chromosome aneuploidy
- Creators
- Srishti Rau - Children’s National Health SystemEthan T Whitman - National Institute of Mental HealthKimberly Schauder - Children’s National Health SystemNikhita Gogate - Washington University Medical CenterNancy Raitano Lee - Drexel UniversityLauren Kenworthy - Children’s National Health SystemArmin Raznahan - National Institute of Mental Health
- Publication Details
- Journal of neurodevelopmental disorders, v 13(1), pp 61-61
- Publisher
- Springer BMC
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Psychological and Brain Sciences (Psychology)
- Web of Science ID
- WOS:000730547100001
- Scopus ID
- 2-s2.0-85121366073
- Other Identifier
- 991019167860204721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Clinical Neurology
- Neurosciences