Centanni T M, Sanmann J N, Green J R, Iuzzini-Seigel J, Bartlett C, Sanger W G, Hogan T P
MGH Institute of Health Professions, Boston, Massachusetts.
Massachusetts Institute of Technology, Cambridge, Massachusetts.
Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):536-43. doi: 10.1002/ajmg.b.32325. Epub 2015 Jun 19.
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.
儿童言语失用症（CAS）是一种使人衰弱的儿科言语障碍，其特征是症状表现各异、存在共病缺陷且对干预的反应有限。特定语言障碍（SLI）是一种遗传性儿科语言障碍，其特征是口语技能延迟和/或紊乱，包括语义、句法和语篇受损。迄今为止，与CAS和SLI相关的基因尚未完全明确。在本研究中，我们评估了7名CAS儿童和8名SLI儿童的行为和基因特征，同时确保所有儿童均无共病损伤。在2名CAS儿童中发现了CNTNAP2基因的缺失，但在任何SLI儿童中均未发现。尽管发音分数较低，但这些儿童在语言和单词阅读评估中表现出中等至高水平。这些发现表明，CNTNAP2基因内的遗传变异可能与言语产生缺陷有关。
