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Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
Copy 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 character...
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| Published in: | British journal of psychiatry 2018-05, Vol.212 (5), p.287-294 |
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| creator | Thygesen, Johan H. Wolfe, Kate McQuillin, Andrew Viñas-Jornet, Marina Baena, Neus Brison, Nathalie D'Haenens, Greet Esteba-Castillo, Susanna Gabau, Elisabeth Ribas-Vidal, Núria Ruiz, Anna Vermeesch, Joris Weyts, Eddy Novell, Ramon Buggenhout, Griet Van Strydom, André Bass, Nick Guitart, Miriam Vogels, Annick |
| description | Copy 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.
A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.
The 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 |
| doi_str_mv | 10.1192/bjp.2017.65 |
| format | article |
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A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.
The 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.
In 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.</description><identifier>ISSN: 0007-1250</identifier><identifier>EISSN: 1472-1465</identifier><identifier>DOI: 10.1192/bjp.2017.65</identifier><identifier>PMID: 29693535</identifier><language>eng</language><publisher>Cambridge, UK: Cambridge University Press</publisher><subject>Adult ; Adults ; Autism ; Child Development Disorders, Pervasive - epidemiology ; Child Development Disorders, Pervasive - genetics ; Chromosomes ; Comorbidity ; Copy number ; DNA Copy Number Variations - genetics ; Europe - epidemiology ; Female ; Genes ; Genetics ; Humans ; Intellectual disabilities ; Intellectual Disability - epidemiology ; Intellectual Disability - genetics ; Male ; Medical records ; Mental disorders ; Mental Disorders - epidemiology ; Mental Disorders - genetics ; Microarray Analysis ; Middle Aged ; Neurodevelopmental disorders ; People with disabilities ; Psychiatrists ; Psychiatry ; Risk factors ; Schizophrenia ; Schizophrenia - epidemiology ; Schizophrenia - genetics ; Variants</subject><ispartof>British journal of psychiatry, 2018-05, Vol.212 (5), p.287-294</ispartof><rights>Copyright © The Royal College of Psychiatrists 2018</rights><rights>The Royal College of Psychiatrists 2018 2018 The Royal College of Psychiatrists</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c447t-970f9e399e8b2ff80f150c879b54959d577b6ea05df9234a4b5d33e80dac21ea3</citedby><cites>FETCH-LOGICAL-c447t-970f9e399e8b2ff80f150c879b54959d577b6ea05df9234a4b5d33e80dac21ea3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2213122564/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$H</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2213122564?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,780,784,885,12846,21394,21395,27924,27925,30999,33611,33612,34530,34531,43733,44115,72960,74221,74639</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29693535$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thygesen, Johan H.</creatorcontrib><creatorcontrib>Wolfe, Kate</creatorcontrib><creatorcontrib>McQuillin, Andrew</creatorcontrib><creatorcontrib>Viñas-Jornet, Marina</creatorcontrib><creatorcontrib>Baena, Neus</creatorcontrib><creatorcontrib>Brison, Nathalie</creatorcontrib><creatorcontrib>D'Haenens, Greet</creatorcontrib><creatorcontrib>Esteba-Castillo, Susanna</creatorcontrib><creatorcontrib>Gabau, Elisabeth</creatorcontrib><creatorcontrib>Ribas-Vidal, Núria</creatorcontrib><creatorcontrib>Ruiz, Anna</creatorcontrib><creatorcontrib>Vermeesch, Joris</creatorcontrib><creatorcontrib>Weyts, Eddy</creatorcontrib><creatorcontrib>Novell, Ramon</creatorcontrib><creatorcontrib>Buggenhout, Griet Van</creatorcontrib><creatorcontrib>Strydom, André</creatorcontrib><creatorcontrib>Bass, Nick</creatorcontrib><creatorcontrib>Guitart, Miriam</creatorcontrib><creatorcontrib>Vogels, Annick</creatorcontrib><title>Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders</title><title>British journal of psychiatry</title><addtitle>Br J Psychiatry</addtitle><description>Copy 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.
A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.
The 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.
In 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.</description><subject>Adult</subject><subject>Adults</subject><subject>Autism</subject><subject>Child Development Disorders, Pervasive - epidemiology</subject><subject>Child Development Disorders, Pervasive - genetics</subject><subject>Chromosomes</subject><subject>Comorbidity</subject><subject>Copy number</subject><subject>DNA Copy Number Variations - genetics</subject><subject>Europe - epidemiology</subject><subject>Female</subject><subject>Genes</subject><subject>Genetics</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - epidemiology</subject><subject>Intellectual Disability - genetics</subject><subject>Male</subject><subject>Medical records</subject><subject>Mental disorders</subject><subject>Mental Disorders - epidemiology</subject><subject>Mental Disorders - genetics</subject><subject>Microarray Analysis</subject><subject>Middle Aged</subject><subject>Neurodevelopmental disorders</subject><subject>People with disabilities</subject><subject>Psychiatrists</subject><subject>Psychiatry</subject><subject>Risk factors</subject><subject>Schizophrenia</subject><subject>Schizophrenia - 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epidemiology</topic><topic>Child Development Disorders, Pervasive - genetics</topic><topic>Chromosomes</topic><topic>Comorbidity</topic><topic>Copy number</topic><topic>DNA Copy Number Variations - genetics</topic><topic>Europe - epidemiology</topic><topic>Female</topic><topic>Genes</topic><topic>Genetics</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - epidemiology</topic><topic>Intellectual Disability - genetics</topic><topic>Male</topic><topic>Medical records</topic><topic>Mental disorders</topic><topic>Mental Disorders - epidemiology</topic><topic>Mental Disorders - genetics</topic><topic>Microarray Analysis</topic><topic>Middle Aged</topic><topic>Neurodevelopmental disorders</topic><topic>People with disabilities</topic><topic>Psychiatrists</topic><topic>Psychiatry</topic><topic>Risk factors</topic><topic>Schizophrenia</topic><topic>Schizophrenia - epidemiology</topic><topic>Schizophrenia - genetics</topic><topic>Variants</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thygesen, Johan H.</creatorcontrib><creatorcontrib>Wolfe, Kate</creatorcontrib><creatorcontrib>McQuillin, Andrew</creatorcontrib><creatorcontrib>Viñas-Jornet, Marina</creatorcontrib><creatorcontrib>Baena, Neus</creatorcontrib><creatorcontrib>Brison, Nathalie</creatorcontrib><creatorcontrib>D'Haenens, Greet</creatorcontrib><creatorcontrib>Esteba-Castillo, Susanna</creatorcontrib><creatorcontrib>Gabau, Elisabeth</creatorcontrib><creatorcontrib>Ribas-Vidal, Núria</creatorcontrib><creatorcontrib>Ruiz, Anna</creatorcontrib><creatorcontrib>Vermeesch, Joris</creatorcontrib><creatorcontrib>Weyts, Eddy</creatorcontrib><creatorcontrib>Novell, Ramon</creatorcontrib><creatorcontrib>Buggenhout, Griet Van</creatorcontrib><creatorcontrib>Strydom, André</creatorcontrib><creatorcontrib>Bass, Nick</creatorcontrib><creatorcontrib>Guitart, Miriam</creatorcontrib><creatorcontrib>Vogels, Annick</creatorcontrib><collection>Cambridge Open Access Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Applied Social Sciences Index & Abstracts (ASSIA)</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Psychology Database (Alumni)</collection><collection>Social Science Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>Sociology Collection</collection><collection>Psychology Database (ProQuest)</collection><collection>Research Library</collection><collection>Social Science Database</collection><collection>Sociology Database</collection><collection>Research Library (Corporate)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thygesen, Johan H.</au><au>Wolfe, Kate</au><au>McQuillin, Andrew</au><au>Viñas-Jornet, Marina</au><au>Baena, Neus</au><au>Brison, Nathalie</au><au>D'Haenens, Greet</au><au>Esteba-Castillo, Susanna</au><au>Gabau, Elisabeth</au><au>Ribas-Vidal, Núria</au><au>Ruiz, Anna</au><au>Vermeesch, Joris</au><au>Weyts, Eddy</au><au>Novell, Ramon</au><au>Buggenhout, Griet Van</au><au>Strydom, André</au><au>Bass, Nick</au><au>Guitart, Miriam</au><au>Vogels, Annick</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders</atitle><jtitle>British journal of psychiatry</jtitle><addtitle>Br J Psychiatry</addtitle><date>2018-05</date><risdate>2018</risdate><volume>212</volume><issue>5</issue><spage>287</spage><epage>294</epage><pages>287-294</pages><issn>0007-1250</issn><eissn>1472-1465</eissn><abstract>Copy 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.
A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.
The 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.
In 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.</abstract><cop>Cambridge, UK</cop><pub>Cambridge University Press</pub><pmid>29693535</pmid><doi>10.1192/bjp.2017.65</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Adults Autism Child Development Disorders, Pervasive - epidemiology Child Development Disorders, Pervasive - genetics Chromosomes Comorbidity Copy number DNA Copy Number Variations - genetics Europe - epidemiology Female Genes Genetics Humans Intellectual disabilities Intellectual Disability - epidemiology Intellectual Disability - genetics Male Medical records Mental disorders Mental Disorders - epidemiology Mental Disorders - genetics Microarray Analysis Middle Aged Neurodevelopmental disorders People with disabilities Psychiatrists Psychiatry Risk factors Schizophrenia Schizophrenia - epidemiology Schizophrenia - genetics Variants |
| title | Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders |
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