Prevalence and Application of Speech-Language Therapy in Individuals With Klinefelter Syndrome: A Scoping Review

克氏综合征患者言语语言治疗的普及程度和应用情况:一项范围界定综述

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Abstract

Klinefelter syndrome (KS), a condition resulting from the presence of an extra X chromosome in males (47,XXY), is associated with a high prevalence of communication difficulties, however, the application and evaluation of speech-language therapy (SLT) in this population remains poorly understood. Despite extensive documentation of language impairments in individuals with KS, no comprehensive synthesis of SLT interventions or outcomes has been conducted. To address this gap, we conducted a scoping review mapping the existing literature on SLT in individuals with KS to inform future clinical practice and research.  A systematic search was performed across four databases: PubMed, Embase, PsycINFO, and Scopus. Eligible studies discussed SLT in relation to individuals with KS. The search identified 57 articles, which were narrowed down to four articles that met the inclusion criteria; the findings were narratively synthesized.  Following data extraction, thematic analysis revealed three overarching themes within the literature: (1) High utilization of SLT in KS, (2) Early interdisciplinary intervention for language deficits, and (3) Access barriers and lack of outcome data.Findings highlight that SLT is one of the most frequently accessed early interventions for children with KS, yet therapeutic outcomes are rarely evaluated. Early interdisciplinary intervention models were emphasized as crucial for addressing the complex language needs associated with KS; however, barriers to timely access were prevalent, including limited provider awareness and insufficient knowledge of KS. Moreover, while high rates of SLT usage were reported, few studies assessed the effectiveness or long-term outcomes of interventions, emphasizing the need for further research in this area.  The findings of this scoping review suggest that improving awareness among healthcare providers and educators, along with ongoing evaluation of SLT outcomes, is essential to optimize developmental support for children with KS.

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