Laing Jordanna, Kadoura Ziad, Guhle Brendan
Research, Klinefelter Support Society, Edmonton, CAN.
Psychology, University of Alberta, Edmonton, CAN.
Cureus. 2025 Jun 7;17(6):e85523. doi: 10.7759/cureus.85523. eCollection 2025 Jun.
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.
克兰费尔特综合征（KS）是一种男性因额外存在一条X染色体（47,XXY）而导致的疾病，与沟通困难的高患病率相关，然而，针对这一人群的言语语言治疗（SLT）的应用和评估仍知之甚少。尽管有大量关于KS患者语言障碍的文献记录，但尚未对SLT干预措施或结果进行全面的综合分析。为了填补这一空白，我们进行了一项范围综述，梳理了关于KS患者SLT的现有文献，以为未来的临床实践和研究提供参考。我们在四个数据库中进行了系统检索：PubMed、Embase、PsycINFO和Scopus。符合条件的研究讨论了与KS患者相关的SLT。检索共识别出57篇文章，经筛选后确定了4篇符合纳入标准的文章；对研究结果进行了叙述性综合分析。在数据提取之后，主题分析揭示了文献中的三个总体主题：（1）KS患者对SLT的高利用率，（2）针对语言缺陷的早期跨学科干预，以及（3）获取障碍和缺乏结果数据。研究结果表明，SLT是KS儿童最常接受的早期干预措施之一，但很少对治疗结果进行评估。早期跨学科干预模式被强调对于满足与KS相关的复杂语言需求至关重要；然而，及时获得干预的障碍普遍存在，包括提供者意识有限以及对KS的了解不足。此外，虽然报告了SLT的高使用率，但很少有研究评估干预措施的有效性或长期结果，这凸显了该领域进一步研究的必要性。这项范围综述的结果表明，提高医疗保健提供者和教育工作者的意识，以及持续评估SLT结果，对于优化对KS儿童的发育支持至关重要。
