Document Type




Format of Original

8 p.

Publication Date




Source Publication

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Source ISSN


Original Item ID

doi: 10.1002/ajmg.b.32325


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.


Accepted version. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Vol. 168, No. 7 (October 2015): 536-543. DOI. © 2015 Wiley. Used with permission.

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