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21
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
URL: https://publications.aston.ac.uk/id/eprint/21009/1/Increased_prevalence_of_sex_chromosome_aneuploidies_in_specific_language_impairment_and_dyslexia.pdf
https://publications.aston.ac.uk/id/eprint/21009/
https://doi.org/10.1111/dmcn.12294
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22
Language against the odds, or rather not: the weak central coherence hypothesis and language
In: Journal of neurolinguistics. - Orlando, Fla. : Elsevier 25 (2012) 1, 13-30
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23
Morphology in autism spectrum disorders: local processing bias and language
In: Cognitive neuropsychology. - Abingdon : Routledge, Taylor & Francis Group 29 (2012) 7-8, 584-600
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24
Editorial
In: Dyslexia. - Bracknell : British Dyslexia Association 16 (2010) 1, 1
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25
Making links: introduction to the special issue
In: Dyslexia. - Bracknell : British Dyslexia Association 14 (2008) 3, 153-154
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26
Impaired balance in developmental dyslexia? A meta-analysis of the contending evidence
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27
Selected papers from the 6th conference of the British Dyslexia Association
Talcott, Joel B. (Hrsg.); Alphen, Petra van (Mitarb.); Bree, Elise de (Mitarb.)...
In: Dyslexia. - Bracknell : British Dyslexia Association 10 (2004) 4, 265-384
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28
Selected papers from the 6th conference of the British Dyslexia Association (Part 1)
Talcott, Joel B. (Hrsg.); Lyytinen, Heikki (Mitarb.); Ahonen, Timo (Mitarb.)...
In: Dyslexia. - Bracknell : British Dyslexia Association 10 (2004) 3, 145-264
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29
Dyslexia in context
In: Dyslexia. - Bracknell : British Dyslexia Association 10 (2004) 3, 145
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30
Sensory processing, reading, IQ, and attention
In: Journal of experimental child psychology. - Orlando, Fla. : Acad. Press 88 (2004) 3, 274-295
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31
The perception of 'sine-wave speech' by adults with developmental dyslexia
In: Journal of speech, language, and hearing research. - Rockville, Md. : American Speech-Language-Hearing Association 46 (2003) 1, 68-79
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32
Commentaries on "Evaluation of an exercise-based treatment for children with reading difficulties, by David Reynolds, Roderick I. Nicolson and Helen Hambly" and authors' response
Rack, John (Mitarb.); Hatcher, Peter J. (Mitarb.); Richards, Ian L. (Mitarb.)...
In: Dyslexia. - Bracknell : British Dyslexia Association 9 (2003) 3, 137-176
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33
Science, sophistry and 'commercial sensitivity': Comments on 'evaluation of an exercise-based treatment for children with reading difficulties', by Reynolds, Nicolson and Hambly
In: Dyslexia. - Bracknell : British Dyslexia Association 9 (2003) 3, 146-150
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34
Impaired sensitivity to dynamic stimuli in poor readers of a regular orthography
In: Brain & language. - Orlando, Fla. [u.a.] : Elsevier 87 (2003) 2, 259-266
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35
Impaired sensitivity to dynamic stimuli in poor readers of a regular orthography
In: Brain & language. - Orlando, Fla. [u.a.] : Elsevier 87 (2003) 2, 259-266
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36
On the relationship between dynamic visual and auditory processing and literacy skills : results from a large primary-school study
In: Dyslexia. - Bracknell : British Dyslexia Association 8 (2002) 4, 204-225
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37
Comments on "The Dyslexia Ecosystem" : a reply to Nicolson
In: Dyslexia. - Bracknell : British Dyslexia Association (2002), 226-233
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38
Comments on 'the dyslexia ecosystem': a reply to Nicolson
In: Dyslexia. - Bracknell : British Dyslexia Association 8 (2002) 4, 226-233
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39
On the relationship between dynamic visual and auditory processing and literacy skills; results from a large primary-school study
In: Dyslexia. - Bracknell : British Dyslexia Association 8 (2002) 4, 204-225
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40
Separate influences of acoustic AM and FM sensitivity on the phonological decording skills of impaired and normal readers
In: Journal of cognitive neuroscience. - Cambridge, Mass. : MIT Press Journals 14 (2002) 6, 866-874
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