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Investigating the effects of handedness on the consistency of lateralization for speech production and semantic processing tasks using functional transcranial Doppler sonography
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Testing the unitary theory of language lateralization using functional transcranial Doppler sonography in adults
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CATALISE : a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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CATALISE : a multinational and multidisciplinary Delphi consensus study. Identifying language impairments in children
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Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia
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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.. - 2014
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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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Keyword:
Neuroscience. Biological psychiatry. Neuropsychiatry; Special aspects of education
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URL: https://doi.org/10.1111/dmcn.12294 https://strathprints.strath.ac.uk/48936/
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CNTNAP2 variants affect early language development in the general population
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Overlaps between autism and language impairment: phenomimicry or shared etiology?
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Lower-frequency event-related desynchronization: a signature of late mismatch responses to sounds, which is reduced or absent in children with specific language impairment
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Genes, cognition, and communication: insights from neurodevelopmental disorders
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Weak hand preference in children with down syndrome is associated with language deficits
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Weak hand preference in children with Down syndrome is associated with language deficits
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Heritability of specific language impairment depends on diagnostic criteria
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Heritable risk factors associated with language impairments
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Is poor frequency modulation detection linked to literacy problems? A comparison of specific reading disability and mild to moderate sensorineural hearing loss
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Speech and non-speech processing in people with specific language impairment: a behavioural and electrophysiological study
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Frequency discrimination deficits in people with specific language impairment : reliability, validity, and linguistic correlates
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