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 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.

Publication DOI:
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences > Clinical and Systems Neuroscience
College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN)
College of Health & Life Sciences
College of Health & Life Sciences > School of Optometry > Vision, Hearing and Language
Additional Information: © 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
Uncontrolled Keywords: Clinical Neurology,Pediatrics, Perinatology, and Child Health,Developmental Neuroscience
Publication ISSN: 1469-8749
Last Modified: 15 Feb 2024 08:08
Date Deposited: 06 Feb 2014 12:21
Full Text Link: http://onlineli ... .12294/abstract
Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type: Article
Published Date: 2013
Published Online Date: 2013-10-09
Authors: 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 F.
Talcott, Joel B. (ORCID Profile 0000-0001-7958-8369)
O'Hare, Anne
Baird, Gillian
Paracchini, Silvia
Fisher, Simon E.
Newbury, Dianne F.
, SLI Consortium



Version: Published Version

License: Creative Commons Attribution

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