ArticleMolecular psychiatry2025
Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications.
Article in Molecular psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Public involvement and co-design of longitudinal studies of sleep health alongside young people with rare genetic conditions.Research involvement and engagement · 2026Article
- Review
- Charting Brain Structure in 22q11.2 Deletion Syndrome with Clinical Neuroimaging.medRxiv : the preprint server for health sciences · 2026Article
- Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.Research square · 2025Article
- Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.bioRxiv : the preprint server for biology · 2025Article
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Atlas of Proteomic signatures of brain structure and its links to brain disorders.Nature communications · 2025Article
- Investigating mood and cognition in people with multiple sclerosis: a prospective cross-sectional study protocol.BMJ open · 2025Article
- Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.Psychiatry research · 2025Article
- Neurological Insights into 16p11.2- And 22q11.2-Related Disorders: A Mini-Review.Current genomics · 2025Review
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure.Journal of neurodevelopmental disorders · 2024Article
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34 authors.
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Abstract
Rare recurrent copy number variants (CNVs) at chromosomal loci 22q11.2 and 16p11.2 are genetic disorders with lifespan risk for neuropsychiatric disorders. Microdeletions and duplications are associated with neurocognitive deficits, yet few studies compared these groups using the same measures to address confounding measurement differences. We report a prospective international collaboration applying the same computerized neurocognitive assessment, the Penn Computerized Neurocognitive Battery (CNB), administered in a multi-site study on rare genomic disorders: 22q11.2 deletions (n = 492); 22q11.2 duplications (n = 106); 16p11.2 deletion (n = 117); and 16p11.2 duplications (n = 46). Domains examined include executive functions, episodic memory, complex cognition, social cognition, and psychomotor speed. Accuracy and speed for each domain were included as dependent measures in a mixed-model repeated measures analysis. Locus (22q11.2, 16p11.2) and Copy number (deletion/duplication) were grouping factors and Measure (accuracy, speed) and neurocognitive domain were repeated measures factors, with Sex and Site as covariates. We also examined correlation with IQ. We found a significant Locus × Copy number × Domain × Measure interaction (p = 0.0004). 22q11.2 deletions were associated with greater performance accuracy deficits than 22q11.2 duplications, while 16p11.2 duplications were associated with greater specific deficits than 16p11.2 deletions. Duplications at both loci were associated with reduced speed compared to deletions. Performance profiles differed among the groups with particularly poor memory performance of the 22q11.2 deletion group while the 16p11.2 duplication group had greatest deficits in complex cognition. Average accuracy on the CNB was moderately correlated with Full Scale IQ. Deletions and duplications of 22q11.2 and 16p11.2 have differential effects on accuracy and speed of neurocognition indicating locus specificity of performance profiles. These profile differences can help inform mechanistic substrates to heterogeneity in presentation and outcome, and can only be established in large-scale international consortia using the same neurocognitive assessment. Future studies could aim to link performance profiles to clinical features and brain function.
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