Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
Aim Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment...
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| Veröffentlicht in: | Developmental medicine and child neurology 2014-04, Vol.56 (4), p.346-353 |
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| creator | Simpson, Nuala H Addis, Laura Brandler, William M Slonims, Vicky Clark, Ann Watson, Jocelynne Scerri, Thomas S Hennessy, Elizabeth R Bolton, Patrick F Conti‐Ramsden, Gina Fairfax, Benjamin P Knight, Julian C Stein, John Talcott, Joel B O'Hare, Anne Baird, Gillian Paracchini, Silvia Fisher, Simon E Newbury, Dianne F Consortium, SLI |
| description | Aim
Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia.
Method
Genome‐wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years).
Results
In the clinical language‐impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified.
Interpretation
The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non‐verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
What this paper adds
Individuals with language impairment have increased frequencies of sex chromosome aneuploidies.
Routine screening of individuals with language and/or literacy problems should be considered.
This article is commented on by Hidecker on pages 299–300 of this issue. |
| doi_str_mv | 10.1111/dmcn.12294 |
| format | Article |
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Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia.
Method
Genome‐wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years).
Results
In the clinical language‐impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified.
Interpretation
The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non‐verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
What this paper adds
Individuals with language impairment have increased frequencies of sex chromosome aneuploidies.
Routine screening of individuals with language and/or literacy problems should be considered.
This article is commented on by Hidecker on pages 299–300 of this issue.</description><identifier>ISSN: 0012-1622</identifier><identifier>EISSN: 1469-8749</identifier><identifier>DOI: 10.1111/dmcn.12294</identifier><identifier>PMID: 24117048</identifier><language>eng</language><publisher>England: BlackWell Publishing Ltd</publisher><subject>Adolescent ; Aneuploidy ; Child ; Child, Preschool ; Cohort Studies ; Dyslexia - epidemiology ; Dyslexia - genetics ; Female ; Genotype ; Humans ; Karyotyping ; Language Development Disorders - epidemiology ; Language Development Disorders - genetics ; Male ; Original ; Paternal Age ; Polymorphism, Single Nucleotide ; Prevalence ; Sex Chromosomes ; Young Adult</subject><ispartof>Developmental medicine and child neurology, 2014-04, Vol.56 (4), p.346-353</ispartof><rights>2013 The Authors. published by John Wiley & Sons Ltd on behalf of Mac Keith Press.</rights><rights>2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.</rights><rights>2013 The Authors. published by John Wiley & Sons Ltd on behalf of Mac Keith Press. 2013</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4204-1a159f421b803143f644e271d441315b6484807966773627fe6198fe4e32a2a63</citedby><cites>FETCH-LOGICAL-c4204-1a159f421b803143f644e271d441315b6484807966773627fe6198fe4e32a2a63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fdmcn.12294$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fdmcn.12294$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,315,782,786,887,1419,1435,27931,27932,45581,45582,46416,46840</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24117048$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Simpson, Nuala H</creatorcontrib><creatorcontrib>Addis, Laura</creatorcontrib><creatorcontrib>Brandler, William M</creatorcontrib><creatorcontrib>Slonims, Vicky</creatorcontrib><creatorcontrib>Clark, Ann</creatorcontrib><creatorcontrib>Watson, Jocelynne</creatorcontrib><creatorcontrib>Scerri, Thomas S</creatorcontrib><creatorcontrib>Hennessy, Elizabeth R</creatorcontrib><creatorcontrib>Bolton, Patrick F</creatorcontrib><creatorcontrib>Conti‐Ramsden, Gina</creatorcontrib><creatorcontrib>Fairfax, Benjamin P</creatorcontrib><creatorcontrib>Knight, Julian C</creatorcontrib><creatorcontrib>Stein, John</creatorcontrib><creatorcontrib>Talcott, Joel B</creatorcontrib><creatorcontrib>O'Hare, Anne</creatorcontrib><creatorcontrib>Baird, Gillian</creatorcontrib><creatorcontrib>Paracchini, Silvia</creatorcontrib><creatorcontrib>Fisher, Simon E</creatorcontrib><creatorcontrib>Newbury, Dianne F</creatorcontrib><creatorcontrib>Consortium, SLI</creatorcontrib><creatorcontrib>SLI Consortium</creatorcontrib><title>Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia</title><title>Developmental medicine and child neurology</title><addtitle>Dev Med Child Neurol</addtitle><description>Aim
Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia.
Method
Genome‐wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years).
Results
In the clinical language‐impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified.
Interpretation
The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non‐verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
What this paper adds
Individuals with language impairment have increased frequencies of sex chromosome aneuploidies.
Routine screening of individuals with language and/or literacy problems should be considered.
This article is commented on by Hidecker on pages 299–300 of this issue.</description><subject>Adolescent</subject><subject>Aneuploidy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cohort Studies</subject><subject>Dyslexia - epidemiology</subject><subject>Dyslexia - genetics</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Karyotyping</subject><subject>Language Development Disorders - epidemiology</subject><subject>Language Development Disorders - genetics</subject><subject>Male</subject><subject>Original</subject><subject>Paternal Age</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Prevalence</subject><subject>Sex Chromosomes</subject><subject>Young Adult</subject><issn>0012-1622</issn><issn>1469-8749</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><recordid>eNp9kcFO3DAQhq2KqmyBSx-g8hEhhXrsWSe5IKGltEi0XOBsvM5kMUriYBPKvj2mS1G54Msc_Ombf_Qz9gXEIeT3rendcAhS1viBzQB1XVQl1ltsJgTIArSU2-xzSrdCCKXn-IltSwQoBVYzdn02uEg2UcPHSA-2o8ERDy1P9MjdTQx9SKEnbgeaxi74xlPifuBpJOdb73hnh9VkV8R9P1ofexruM9zwZp06evR2l31sbZdo72XusKvT75eLn8X5xY-zxfF54VAKLMDCvG5RwrISClC1GpFkCQ0iKJgvNVZYibLWuiyVlmVLGuqqJSQlrbRa7bCjjXeclj01LueItjNj9L2NaxOsN29_Bn9jVuHBoKwVapEF-y-CGO4mSvem98lRlw-kMCUDc1HlLEphRg82qIshpUjt6xoQ5rkS81yJ-VtJhr_-H-wV_ddBBmAD_PEdrd9RmZNfi98b6RP38pdZ</recordid><startdate>201404</startdate><enddate>201404</enddate><creator>Simpson, Nuala H</creator><creator>Addis, Laura</creator><creator>Brandler, William M</creator><creator>Slonims, Vicky</creator><creator>Clark, Ann</creator><creator>Watson, Jocelynne</creator><creator>Scerri, Thomas S</creator><creator>Hennessy, Elizabeth R</creator><creator>Bolton, Patrick F</creator><creator>Conti‐Ramsden, Gina</creator><creator>Fairfax, Benjamin P</creator><creator>Knight, Julian C</creator><creator>Stein, John</creator><creator>Talcott, Joel B</creator><creator>O'Hare, Anne</creator><creator>Baird, Gillian</creator><creator>Paracchini, Silvia</creator><creator>Fisher, Simon E</creator><creator>Newbury, Dianne F</creator><creator>Consortium, SLI</creator><general>BlackWell Publishing Ltd</general><scope>24P</scope><scope>WIN</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201404</creationdate><title>Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia</title><author>Simpson, Nuala H ; Addis, Laura ; Brandler, William M ; Slonims, Vicky ; Clark, Ann ; Watson, Jocelynne ; Scerri, Thomas S ; Hennessy, Elizabeth R ; Bolton, Patrick F ; Conti‐Ramsden, Gina ; Fairfax, Benjamin P ; Knight, Julian C ; Stein, John ; Talcott, Joel B ; O'Hare, Anne ; Baird, Gillian ; Paracchini, Silvia ; Fisher, Simon E ; Newbury, Dianne F ; Consortium, SLI</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4204-1a159f421b803143f644e271d441315b6484807966773627fe6198fe4e32a2a63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Aneuploidy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cohort Studies</topic><topic>Dyslexia - epidemiology</topic><topic>Dyslexia - genetics</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Karyotyping</topic><topic>Language Development Disorders - epidemiology</topic><topic>Language Development Disorders - genetics</topic><topic>Male</topic><topic>Original</topic><topic>Paternal Age</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Prevalence</topic><topic>Sex Chromosomes</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Simpson, Nuala H</creatorcontrib><creatorcontrib>Addis, Laura</creatorcontrib><creatorcontrib>Brandler, William M</creatorcontrib><creatorcontrib>Slonims, Vicky</creatorcontrib><creatorcontrib>Clark, Ann</creatorcontrib><creatorcontrib>Watson, Jocelynne</creatorcontrib><creatorcontrib>Scerri, Thomas S</creatorcontrib><creatorcontrib>Hennessy, Elizabeth R</creatorcontrib><creatorcontrib>Bolton, Patrick F</creatorcontrib><creatorcontrib>Conti‐Ramsden, Gina</creatorcontrib><creatorcontrib>Fairfax, Benjamin P</creatorcontrib><creatorcontrib>Knight, Julian C</creatorcontrib><creatorcontrib>Stein, John</creatorcontrib><creatorcontrib>Talcott, Joel B</creatorcontrib><creatorcontrib>O'Hare, Anne</creatorcontrib><creatorcontrib>Baird, Gillian</creatorcontrib><creatorcontrib>Paracchini, Silvia</creatorcontrib><creatorcontrib>Fisher, Simon E</creatorcontrib><creatorcontrib>Newbury, Dianne F</creatorcontrib><creatorcontrib>Consortium, SLI</creatorcontrib><creatorcontrib>SLI Consortium</creatorcontrib><collection>Wiley Online Library (Open Access Collection)</collection><collection>Wiley Online Library (Open Access Collection)</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Developmental medicine and child neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Simpson, Nuala H</au><au>Addis, Laura</au><au>Brandler, William M</au><au>Slonims, Vicky</au><au>Clark, Ann</au><au>Watson, Jocelynne</au><au>Scerri, Thomas S</au><au>Hennessy, Elizabeth R</au><au>Bolton, Patrick F</au><au>Conti‐Ramsden, Gina</au><au>Fairfax, Benjamin P</au><au>Knight, Julian C</au><au>Stein, John</au><au>Talcott, Joel B</au><au>O'Hare, Anne</au><au>Baird, Gillian</au><au>Paracchini, Silvia</au><au>Fisher, Simon E</au><au>Newbury, Dianne F</au><au>Consortium, SLI</au><aucorp>SLI Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia</atitle><jtitle>Developmental medicine and child neurology</jtitle><addtitle>Dev Med Child Neurol</addtitle><date>2014-04</date><risdate>2014</risdate><volume>56</volume><issue>4</issue><spage>346</spage><epage>353</epage><pages>346-353</pages><issn>0012-1622</issn><eissn>1469-8749</eissn><abstract>Aim
Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia.
Method
Genome‐wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years).
Results
In the clinical language‐impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified.
Interpretation
The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non‐verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.
What this paper adds
Individuals with language impairment have increased frequencies of sex chromosome aneuploidies.
Routine screening of individuals with language and/or literacy problems should be considered.
This article is commented on by Hidecker on pages 299–300 of this issue.</abstract><cop>England</cop><pub>BlackWell Publishing Ltd</pub><pmid>24117048</pmid><doi>10.1111/dmcn.12294</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Developmental medicine and child neurology, 2014-04, Vol.56 (4), p.346-353 |
| issn | 0012-1622 1469-8749 |
| language | eng |
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| source | Wiley Online Library - AutoHoldings Journals; MEDLINE; Wiley Online Library (Open Access Collection) |
| subjects | Adolescent Aneuploidy Child Child, Preschool Cohort Studies Dyslexia - epidemiology Dyslexia - genetics Female Genotype Humans Karyotyping Language Development Disorders - epidemiology Language Development Disorders - genetics Male Original Paternal Age Polymorphism, Single Nucleotide Prevalence Sex Chromosomes Young Adult |
| title | Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia |
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