Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

Nuala H. Simpson, Laura Addis, William M. Brandler, Vicky Slonims, Ann Clark, Jocelynne Watson, Thomas S. Scerri, Elizabeth R. Hennessy, Patrick F. Bolton, Gina Conti-Ramsden, Benjamin P. Fairfax, Julian C. Knight, John Stein, Joel B. Talcott, Anne O'Hare, Gillian Baird, Silvia Paracchini, Simon E. Fisher, Dianne F. Newbury, R. Nudel & 10 others A. P. Monaco, E. Simonoff, A. Pickles, A. Everitt, J. Seckl, H. Cowie, W. Cohen, J. Nasir, D. V M Bishop, Z. Simkin

Research output: Contribution to journalArticle

18 Citations (Scopus)

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. 

LanguageEnglish
Pages346-353
Number of pages8
JournalDevelopmental Medicine and Child Neurology
Volume56
Issue number4
DOIs
Publication statusPublished - Apr 2014

Fingerprint

Dyslexia
Sex Chromosomes
Aneuploidy
Language
Klinefelter Syndrome
Language Disorders
Turner Syndrome
Cytogenetic Analysis
Genetic Testing
Karyotype
Single Nucleotide Polymorphism
Genome
Population

Keywords

  • sex chromosome aneuploidies
  • language impairment
  • dyslexia
  • written language disorders
  • spoken language disorders
  • specific language impairment
  • SLI

Cite this

Simpson, N. H., Addis, L., Brandler, W. M., Slonims, V., Clark, A., Watson, J., ... Simkin, Z. (2014). Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Developmental Medicine and Child Neurology, 56(4), 346-353. https://doi.org/10.1111/dmcn.12294
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. ; Nudel, R. ; Monaco, A. P. ; Simonoff, E. ; Pickles, A. ; Everitt, A. ; Seckl, J. ; Cowie, H. ; Cohen, W. ; Nasir, J. ; Bishop, D. V M ; Simkin, Z. / Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. In: Developmental Medicine and Child Neurology. 2014 ; Vol. 56, No. 4. pp. 346-353.
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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. ",
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author = "Simpson, {Nuala H.} and Laura Addis and Brandler, {William M.} and Vicky Slonims and Ann Clark and Jocelynne Watson and Scerri, {Thomas S.} and Hennessy, {Elizabeth R.} and Bolton, {Patrick F.} and Gina Conti-Ramsden and Fairfax, {Benjamin P.} and Knight, {Julian C.} and John Stein and Talcott, {Joel B.} and Anne O'Hare and Gillian Baird and Silvia Paracchini and Fisher, {Simon E.} and Newbury, {Dianne F.} and R. Nudel and Monaco, {A. P.} and E. Simonoff and A. Pickles and A. Everitt and J. Seckl and H. Cowie and W. Cohen and J. Nasir and Bishop, {D. V M} and Z. Simkin",
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Simpson, NH, Addis, L, Brandler, WM, Slonims, V, Clark, A, Watson, J, Scerri, TS, Hennessy, ER, Bolton, PF, Conti-Ramsden, G, Fairfax, BP, Knight, JC, Stein, J, Talcott, JB, O'Hare, A, Baird, G, Paracchini, S, Fisher, SE, Newbury, DF, Nudel, R, Monaco, AP, Simonoff, E, Pickles, A, Everitt, A, Seckl, J, Cowie, H, Cohen, W, Nasir, J, Bishop, DVM & Simkin, Z 2014, 'Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia' Developmental Medicine and Child Neurology, vol. 56, no. 4, pp. 346-353. https://doi.org/10.1111/dmcn.12294

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. / 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.; Nudel, R.; Monaco, A. P.; Simonoff, E.; Pickles, A.; Everitt, A.; Seckl, J.; Cowie, H.; Cohen, W.; Nasir, J.; Bishop, D. V M; Simkin, Z.

In: Developmental Medicine and Child Neurology, Vol. 56, No. 4, 04.2014, p. 346-353.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

AU - Simpson, Nuala H.

AU - Addis, Laura

AU - Brandler, William M.

AU - Slonims, Vicky

AU - Clark, Ann

AU - Watson, Jocelynne

AU - Scerri, Thomas S.

AU - Hennessy, Elizabeth R.

AU - Bolton, Patrick F.

AU - Conti-Ramsden, Gina

AU - Fairfax, Benjamin P.

AU - Knight, Julian C.

AU - Stein, John

AU - Talcott, Joel B.

AU - O'Hare, Anne

AU - Baird, Gillian

AU - Paracchini, Silvia

AU - Fisher, Simon E.

AU - Newbury, Dianne F.

AU - Nudel, R.

AU - Monaco, A. P.

AU - Simonoff, E.

AU - Pickles, A.

AU - Everitt, A.

AU - Seckl, J.

AU - Cowie, H.

AU - Cohen, W.

AU - Nasir, J.

AU - Bishop, D. V M

AU - Simkin, Z.

PY - 2014/4

Y1 - 2014/4

N2 - 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. 

AB - 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. 

KW - sex chromosome aneuploidies

KW - language impairment

KW - dyslexia

KW - written language disorders

KW - spoken language disorders

KW - specific language impairment

KW - SLI

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U2 - 10.1111/dmcn.12294

DO - 10.1111/dmcn.12294

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