ArticleJournal of neurodevelopmental disorders2021
Patterns of psychopathology and cognition in sex chromosome aneuploidy.
Article in Journal of neurodevelopmental disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Age-related differences in psychopathology within sex chromosome trisomies.European child & adolescent psychiatry · 2025Article
- Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males.Psychological medicine · 2025Article
- Exploring the relationship between cognition and mental health in intersex participants in the UK Biobank study.The Clinical neuropsychologist · 2025Article
- Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- vs. Y-chromosome aneuploidy effects in males.medRxiv : the preprint server for health sciences · 2025Article
- X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.Journal of neurodevelopmental disorders · 2024Article
- The Variegation of Human Brain Vulnerability to Rare Genetic Disorders and Convergence With Behaviorally Defined Disorders.Biological psychiatry · 2024Article
- Sex and gender in neurodevelopmental conditions.Nature reviews. Neurology · 2023Review
- Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.Journal of neurodevelopmental disorders · 2023Article
- Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study.The lancet. Psychiatry · 2023Article
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Abstract
backgroundSex 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.
methodsWe 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).
resultsAll 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.
conclusionsThere 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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