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Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome

PURPOSE OF REVIEW: The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one...

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Autores principales: Fiksinski, Ania M., Schneider, Maude, Zinkstok, Janneke, Baribeau, Danielle, Chawner, Samuel J. R. A., Vorstman, Jacob A. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7904715/
https://www.ncbi.nlm.nih.gov/pubmed/33625600
http://dx.doi.org/10.1007/s11920-021-01225-z
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author Fiksinski, Ania M.
Schneider, Maude
Zinkstok, Janneke
Baribeau, Danielle
Chawner, Samuel J. R. A.
Vorstman, Jacob A. S.
author_facet Fiksinski, Ania M.
Schneider, Maude
Zinkstok, Janneke
Baribeau, Danielle
Chawner, Samuel J. R. A.
Vorstman, Jacob A. S.
author_sort Fiksinski, Ania M.
collection PubMed
description PURPOSE OF REVIEW: The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond. RECENT FINDINGS: We will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective. SUMMARY: We outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.
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spelling pubmed-79047152021-03-19 Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome Fiksinski, Ania M. Schneider, Maude Zinkstok, Janneke Baribeau, Danielle Chawner, Samuel J. R. A. Vorstman, Jacob A. S. Curr Psychiatry Rep Child and Adolescent Disorders (TD Benton, Section Editor) PURPOSE OF REVIEW: The 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond. RECENT FINDINGS: We will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective. SUMMARY: We outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions. Springer US 2021-02-24 2021 /pmc/articles/PMC7904715/ /pubmed/33625600 http://dx.doi.org/10.1007/s11920-021-01225-z Text en © The Author(s) 2021 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Child and Adolescent Disorders (TD Benton, Section Editor)
Fiksinski, Ania M.
Schneider, Maude
Zinkstok, Janneke
Baribeau, Danielle
Chawner, Samuel J. R. A.
Vorstman, Jacob A. S.
Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title_full Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title_fullStr Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title_full_unstemmed Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title_short Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome
title_sort neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome
topic Child and Adolescent Disorders (TD Benton, Section Editor)
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7904715/
https://www.ncbi.nlm.nih.gov/pubmed/33625600
http://dx.doi.org/10.1007/s11920-021-01225-z
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