title: The role of candidate-gene CNTNAP2 in childhood apraxia of speech and specific language impairment.
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.
authors.affiliation: MGH Institute of Health Professions, Boston, Massachusetts.|Massachusetts Institute of Technology, Cambridge, Massachusetts.
authors.forename: T M
authors.initials: TM
authors.lastname: Centanni
authors.affiliation: University of Nebraska Medical Center, Nebraska Medical Center, Omaha, Nebraska.
authors.forename: J N
authors.initials: JN
authors.lastname: Sanmann
authors.affiliation: MGH Institute of Health Professions, Boston, Massachusetts.
authors.forename: J R
authors.initials: JR
authors.lastname: Green
authors.affiliation: MGH Institute of Health Professions, Boston, Massachusetts.|Marquette University, Milwaukee, Michigan.
authors.forename: J
authors.initials: J
authors.lastname: Iuzzini-Seigel
authors.affiliation: The Ohio State University, Columbus, Ohio.
authors.forename: C
authors.initials: C
authors.lastname: Bartlett
authors.affiliation: University of Nebraska Medical Center, Nebraska Medical Center, Omaha, Nebraska.
authors.forename: W G
authors.initials: WG
authors.lastname: Sanger
authors.affiliation: MGH Institute of Health Professions, Boston, Massachusetts.
authors.forename: T P
authors.initials: TP
authors.lastname: Hogan
mesh_terms: D000293:Adolescent; D001072:Apraxias / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D014644:Genetic Variation; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics*; D013060:Speech / Q000502:physiology; D013064:Speech Disorders / Q000235:genetics
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins
keywords: CAS; SLI; gene variant; speech production