Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome
Open accessAbstract
Children with 22q11.2 deletion syndrome (22q11DS), a copy-number variation (CNV) genetic disorder, demonstrate a great deal of variability in IQ scores and are at particular risk for cognitive difficulties, with up to 45% experiencing intellectual disability. This study explored the IQ relationship between individuals with 22q11DS, their parents and their siblings. Participants included individuals with 22q11DS, unaffected siblings and community controls, who participated in a longitudinal study of 22q11DS. Significant associations between proband and relative (parent, sibling) IQ scores were found. Results suggest that the cognitive functioning of first-degree relatives could be a useful marker of general genetic background and/or environmental effects, and can explain some of the large phenotypic variability in 22q11DS. These findings underscore the importance of including siblings and parents in studies of 22q11DS whenever possible.
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Common variant-related polygenic risk and rare inherited variants in the genetic background also impact the phenotypic expression of rare, large-effect pathogenic variants in NDDs.
“Common variant-related polygenic risk and rare inherited variants in the genetic background also impact the phenotypic expression of rare, large-effect pathogenic variants in NDDs”
From Insufficient Evidence for “Autism-Specific” Genes (2020) · cites this paper as [60]
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Self-citation
- Authors
- Olszewski, A. K., Radoeva, P. D., Fremont, W., Kates, W. R., & Antshel, K. M.
- Affiliations
- SUNY Upstate Medical University (US)
- Corresponding author
- Olszewski, Amy K.
- Venue
- Research in Developmental Disabilities
- Publisher
- Elsevier BV
- Published
- 2014-12
- Volume
- 35
- Issue
- 12
- Pages
- 3582-3590
- ISSN
- 0891-4222 (ISSN-L)
- PMC
- PMC4253715
- OpenAlex
- W1973079242
- Cited by
- 37
- References
- 42
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 3 · 2023: 2 · 2022: 6 · 2021: 11 · 2020: 2 · 2018: 3 · 2016: 2 · 2015: 4
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Research in Developmental Disabilities (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Social Sciences › Psychology › Experimental and Cognitive Psychology › Cognitive Abilities and Testing
- Keywords
- 22q11.2 deletion syndrome, intelligence quotient, intellectual disability, phenotypic variability, copy number variation, genetic background, environmental effects
- MeSH terms
- Adolescent, Child, Developmental Disabilities, Cognition, DiGeorge Syndrome, Female, Humans, Intelligence, Longitudinal Studies, Male, Parents, Wechsler Scales, Cohort Studies, Case-Control Studies, Siblings, Young Adult
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