Characterization of speech and language phenotype in the 8p23.1 syndrome.

ABSTRACT: The 8p23.1 duplication syndrome is a rare genetic condition with an estimated prevalence rate of 1 out of 58,000. Although the syndrome was associated with speech and language delays, a comprehensive assessment of speech and language functions has not been undertaken in this population. To address this issue, the present study reports rigorous speech and language, in addition to oral-facial and developmental, assessment of a 50-month-old Turkish-speaking boy who was diagnosed with the 8p23.1 duplication syndrome. Standardized tests of development, articulation and phonology, receptive and expressive language and a language sample analysis were administered to characterize speech and language skills in the patient. The language sample was obtained in an ecologically valid, free play and con

SUBMITTER: Karsan C 

PROVIDER: S-EPMC11564291 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature