ArticleThe British journal of psychiatry : the journal of mental science2018
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.
Article in The British journal of psychiatry : the journal of mental science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Trial
- Socio-genomics of intellectual disability in African populations: top research-producing countries.Journal of community genetics · 2026Review
- Are CNV Risk Scores Linked to Neurodevelopmental and Mental Health Characteristics Within CNV-Associated Intellectual Disability?medRxiv : the preprint server for health sciences · 2026Article
- The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities.Scientific reports · 2026Article
- The continued promise of genomic technologies and software in neurogenetics.Journal of neuromuscular diseases · 2025Review
- Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes.Nature reviews. Neurology · 2024Review
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.Molecular cytogenetics · 2022Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- Diagnosis and Workup of Intellectual Disability in Adults: Suggested Strategies for the Adult Neurologist.Neurology. Clinical practice · 2021Review
- Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.Neurogenetics · 2021Article
- The psychiatric phenotypes of 1q21 distal deletion and duplication.Translational psychiatry · 2021Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Reciprocal Copy Number Variations at 22q11.2 Produce Distinct and Convergent Neurobehavioral Impairments Relevant for Schizophrenia and Autism Spectrum Disorder.Biological psychiatry · 2020Article
- Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature.Translational psychiatry · 2020Review
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19 authors.
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Abstract
backgroundCopy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised.AimsTo determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders.
methodA chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.
resultsThe yield of pathogenic CNVs was high - 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P<0.0001), schizophrenia (3.1%, P<0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations.
conclusionsIn the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry.Declaration of interestNone.
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