Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/95195
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Type: Journal article
Title: Monogenic and chromosomal causes of isolated speech and language impairment
Author: Barnett, C.
van Bon, B.
Citation: Journal of Medical Genetics, 2015; 52(11):719-729
Publisher: BMJ Publishing Group
Issue Date: 2015
ISSN: 1468-6244
1468-6244
Statement of
Responsibility: 
C P Barnett, B W M van Bon
Abstract: The importance of a precise molecular diagnosis for children with intellectual disability, autism spectrum disorder and epilepsy has become widely accepted and genetic testing is an integral part of the diagnostic evaluation of these children. In contrast, children with an isolated speech or language disorder are not often genetically evaluated, despite recent evidence supporting a role for genetic factors in the aetiology of these disorders. Several chromosomal copy number variants and single gene disorders associated with abnormalities of speech and language have been identified. Individuals without a precise genetic diagnosis will not receive optimal management including interventions such as early testosterone replacement in Klinefelter syndrome, otorhinolaryngological and audiometric evaluation in 22q11.2 deletion syndrome, cardiovascular surveillance in 7q11.23 duplications and early dietary management to prevent obesity in proximal 16p11.2 deletions. This review summarises the clinical features, aetiology and management options of known chromosomal and single gene disorders that are associated with speech and language pathology in the setting of normal or only mildly impaired cognitive function.
Keywords: FOXP2; SETBP1; Speech and language; chromosome; trisomies
Rights: Copyright Article author (or their employer) 2015. Produced by BMJ Publishing Group Ltd under licence
RMID: 0030033925
DOI: 10.1136/jmedgenet-2015-103161
Appears in Collections:Medicine publications

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