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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
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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.
Keyword: Neuroscience. Biological psychiatry. Neuropsychiatry; Special aspects of education
URL: https://doi.org/10.1111/dmcn.12294
https://strathprints.strath.ac.uk/48936/
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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4
Prosody and melody in vowel disorder
In: Clinical linguistics ; 2. Clinical phonetics and speech measurement. - London [u.a.] : Routledge (2010), 412-448
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5
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
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Paper 44. Prosody and Melody in Vowel Disorder, Journal of Linguistics, 1999, 35, 489-525
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CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
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8
CMIP and ATP2C2 modulate phonological short-term memory in language impairment
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9
Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment
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10
Receptive language disorder in childhood: Familial aspects and long term outcomes: Results from a Scottish study
Clark, Ann; o'hare, anne; Watson, Jocelynne. - : BMJ Publishing Group Ltd, 2007
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Severe receptive language disorder in childhood--familial aspects and long-term outcomes: results from a Scottish study
Clark, Ann; O’Hare, Anne; Watson, Jocelynne. - : BMJ Publishing Group Ltd, 2007
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12
Receptive language disorder in childhood: Familial aspects and long term outcomes: Results from a Scottish study
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13
Effects of computer-based intervention through acoustically modified speech (Fast ForWord) in severe mixed receptive-expressive language impairment : outcomes from a randomized controlled trial
In: Journal of speech, language, and hearing research. - Rockville, Md. : American Speech-Language-Hearing Association 48 (2005) 3, 715-729
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14
Changes in linguapalatal contact patterns during therapy for velar fronting in a 10-year-old with Down's syndrome.
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15
Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment
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16
Changes in linguapalatal contact patterns during therapy for velar fronting in a 10-year-old with Down's syndrome
In: International journal of language & communication disorders. - Oxford : Wiley-Blackwell 38 (2003) 1, 47-64
OLC Linguistik
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17
Changes in linguapalatal contact patterns during therapy for velar fronting in a 10-year-old with Down's syndrome
In: International journal of language & communication disorders. - Oxford : Wiley-Blackwell 38 (2003) 1, 47-64
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18
Development of cue weighting in children's speech perception
Turk, Alice; Watson, Jocelynne; Mayo, Catherine. - : Temporal Integration in the Perception of Speech, 2002
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19
Context-Conditioned Error Patterns in Disordered Systems.
Watson, Jocelynne; Scobbie, James M.; Bates, Sally. - : Butterworth Heinemann, 2002
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20
Flexibility of acoustic cue weighting in children's speech perception
Watson, Jocelynne; Turk, Alice; Mayo, Catherine. - : Acoustical Society of America, 2001
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