2022
DOI: 10.1101/2022.05.15.22274630
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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Abstract: Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we ascertained 70 unrelated probands with a clinical diagnosis of CAS and performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, struc… Show more

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Cited by 2 publications
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“…Hence, impaired social behaviour was associated with impaired language skills, but not vice versa. Further, it is important to recognise that speech and language impairment can be present in the absence of ID, with linguistic behaviours having their own biologically driven neurological pathways, (44).…”
Section: Discussionmentioning
confidence: 99%
“…Hence, impaired social behaviour was associated with impaired language skills, but not vice versa. Further, it is important to recognise that speech and language impairment can be present in the absence of ID, with linguistic behaviours having their own biologically driven neurological pathways, (44).…”
Section: Discussionmentioning
confidence: 99%