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 F. Stein, Joel B. Talcott, Anne O'Hare, Gillian Baird, Silvia Paracchini, Simon E. Fisher, Dianne F. Newbury*,

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Original languageEnglish
Pages (from-to)346-353
Number of pages8
JournalDevelopmental Medicine and Child Neurology
Issue number4
Early online date9 Oct 2013
Publication statusPublished - 2013

Bibliographical note

© 2013 Mac Keith Press
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Funding: MRC (G1000569/1, MR/J003719/1); Max Planck Society; Wellcome Trust (074318, 088891, 090532/Z/09/Z); European Research Council under European Union (281824); National Institute for Health Research (NIHR) Oxford Biomedical Research Centre; National Institute of Health Research (UK); Biomedical Research Centre in Mental Health at the South London & Maudsley NHS Trust Hospital, London


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