Cargando…

A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants

The heritability of intelligence or general cognitive ability is estimated at 41% and 66% in children and adults respectively. Many rare copy number variants are associated with neurodevelopmental and neuropsychiatric conditions (ND-CNV), including schizophrenia and autism spectrum disorders, and ma...

Descripción completa

Detalles Bibliográficos
Autores principales: Molloy, Ciara J., Quigley, Ciara, McNicholas, Áine, Lisanti, Linda, Gallagher, Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082763/
https://www.ncbi.nlm.nih.gov/pubmed/37031194
http://dx.doi.org/10.1038/s41398-023-02421-6
_version_ 1785021379719987200
author Molloy, Ciara J.
Quigley, Ciara
McNicholas, Áine
Lisanti, Linda
Gallagher, Louise
author_facet Molloy, Ciara J.
Quigley, Ciara
McNicholas, Áine
Lisanti, Linda
Gallagher, Louise
author_sort Molloy, Ciara J.
collection PubMed
description The heritability of intelligence or general cognitive ability is estimated at 41% and 66% in children and adults respectively. Many rare copy number variants are associated with neurodevelopmental and neuropsychiatric conditions (ND-CNV), including schizophrenia and autism spectrum disorders, and may contribute to the observed variability in cognitive ability. Here, we reviewed studies of intelligence quotient or cognitive function in ND-CNV carriers, from both general population and clinical cohorts, to understand the cognitive impact of ND-CNV in both contexts and identify potential genotype-specific cognitive phenotypes. We reviewed aggregate studies of sets ND-CNV broadly linked to neurodevelopmental and neuropsychiatric conditions, and genotype-first studies of a subset of 12 ND-CNV robustly associated with schizophrenia and autism. Cognitive impacts were observed across ND-CNV in both general population and clinical cohorts, with reports of phenotypic heterogeneity. Evidence for ND-CNV-specific impacts were limited by a small number of studies and samples sizes. A comprehensive understanding of the cognitive impact of ND-CNVs would be clinically informative and could identify potential educational needs for ND-CNV carriers. This could improve genetic counselling for families impacted by ND-CNV, and clinical outcomes for those with complex needs.
format Online
Article
Text
id pubmed-10082763
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-100827632023-04-10 A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants Molloy, Ciara J. Quigley, Ciara McNicholas, Áine Lisanti, Linda Gallagher, Louise Transl Psychiatry Review Article The heritability of intelligence or general cognitive ability is estimated at 41% and 66% in children and adults respectively. Many rare copy number variants are associated with neurodevelopmental and neuropsychiatric conditions (ND-CNV), including schizophrenia and autism spectrum disorders, and may contribute to the observed variability in cognitive ability. Here, we reviewed studies of intelligence quotient or cognitive function in ND-CNV carriers, from both general population and clinical cohorts, to understand the cognitive impact of ND-CNV in both contexts and identify potential genotype-specific cognitive phenotypes. We reviewed aggregate studies of sets ND-CNV broadly linked to neurodevelopmental and neuropsychiatric conditions, and genotype-first studies of a subset of 12 ND-CNV robustly associated with schizophrenia and autism. Cognitive impacts were observed across ND-CNV in both general population and clinical cohorts, with reports of phenotypic heterogeneity. Evidence for ND-CNV-specific impacts were limited by a small number of studies and samples sizes. A comprehensive understanding of the cognitive impact of ND-CNVs would be clinically informative and could identify potential educational needs for ND-CNV carriers. This could improve genetic counselling for families impacted by ND-CNV, and clinical outcomes for those with complex needs. Nature Publishing Group UK 2023-04-08 /pmc/articles/PMC10082763/ /pubmed/37031194 http://dx.doi.org/10.1038/s41398-023-02421-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Review Article
Molloy, Ciara J.
Quigley, Ciara
McNicholas, Áine
Lisanti, Linda
Gallagher, Louise
A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title_full A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title_fullStr A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title_full_unstemmed A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title_short A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
title_sort review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10082763/
https://www.ncbi.nlm.nih.gov/pubmed/37031194
http://dx.doi.org/10.1038/s41398-023-02421-6
work_keys_str_mv AT molloyciaraj areviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT quigleyciara areviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT mcnicholasaine areviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT lisantilinda areviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT gallagherlouise areviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT molloyciaraj reviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT quigleyciara reviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT mcnicholasaine reviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT lisantilinda reviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants
AT gallagherlouise reviewofthecognitiveimpactofneurodevelopmentalandneuropsychiatricassociatedcopynumbervariants