Document Type
Article
Language
eng
Format of Original
8 p.
Publication Date
10-2015
Publisher
Wiley
Source Publication
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Source ISSN
1552-4841
Original Item ID
doi: 10.1002/ajmg.b.32325
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.
Recommended Citation
Centanni, Tracy M.; Sanmann, J. N.; Green, J. R.; Iuzzini-Seigel, Jenya; Bartlett, Christopher W.; Sanger, W. G.; and Hogan, Tiffany P., "The Role of Candidate-Gene CNTNAP2 in Childhood Apraxia of Speech and Specific Language Impairment" (2015). Speech Pathology and Audiology Faculty Research and Publications. 34.
https://epublications.marquette.edu/spaud_fac/34
Comments
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.