The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment

T. M. Centanni, J. N. Sanmann, J. R. Green, J. Iuzzini-Seigel, C. Bartlett, W. G. Sanger, T. P. Hogan

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Childhood apraxia of speech (CAS) is a debilitating pediatric speech disorder characterized by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific Language Impairment (SLI) is an inherited pediatric language disorder characterized by delayed and/or disordered oral language skills including impaired semantics, syntax, and discourse. To date, the genes associated with CAS and SLI are not fully characterized. In the current study, we evaluated behavioral and genetic profiles of seven children with CAS and eight children with SLI, while ensuring all children were free of comorbid impairments. Deletions within CNTNAP2 were found in two children with CAS but not in any of the children with SLI. These children exhibited average to high performance on language and word reading assessments in spite of poor articulation scores. These findings suggest that genetic variation within CNTNAP2 may be related to speech production deficits.

Original languageEnglish (US)
Pages (from-to)536-543
Number of pages8
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume168
Issue number7
DOIs
StatePublished - Oct 1 2015

Keywords

  • CAS
  • Gene variant
  • SLI
  • Speech production

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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