An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech.

IF 2.2 2区医学 Q1 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Journal of Speech Language and Hearing Research Pub Date : 2024-09-26 Epub Date: 2023-09-15 DOI:10.1044/2023_JSLHR-22-00714

Mariana L Lauretta, Anna Jarmolowicz, David J Amor, Stephanie Best, Angela T Morgan

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Abstract

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative approach.

Method: Semistructured interviews were conducted with 12 pediatric SLPs using a behavior change theory (Theoretical Domains Framework [TDF]) within a case study describing a child with complex co-occurring features, including childhood apraxia of speech. Interviews focused on three stages of the patient journey (prereferral, referral, and postreferral). Interviews were analyzed to identify barriers and enablers to considering incorporation of genetics in current clinical practice. Barriers and enablers were grouped and mapped onto a contextually relevant TDF-coded analysis framework.

Results: Barriers were identified across several TDF domains, through all stages of the patient journey. Lack of confidence, relevance, and level of experience were most common prereferral, and connection to and awareness of genetics services and contextual factors were barriers in the referral stage. Perception of professional role, knowledge, and beliefs about effects on families were barriers postreferral. Associated enablers were also identified, including seeing value in genetic diagnosis, support from other health care professionals, supervision, and relationships with genetics services.

Conclusions: Results of this qualitative study highlight barriers and enablers to incorporating genetics into speech-language pathology clinical practice. These findings will assist in the development of theory-informed implementation strategies to support SLPs into the future.

Supplemental material: https://doi.org/10.23641/asha.24112800.

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通过儿童言语障碍病例研究探讨遗传学在言语病理学中的障碍和促进因素。

目的：随着基因检测和分析技术的进步，儿童言语障碍这一罕见言语病症的遗传学基础得以进一步确定。本研究旨在采用一种以理论为依据的定性方法，了解语言病理学家（SLPs）将遗传学纳入临床实践的考虑因素：方法：采用行为改变理论（理论领域框架[TDF]），对12名儿科语言病理学家进行了半结构式访谈。访谈的重点是患者旅程的三个阶段（转诊前、转诊和转诊后）。对访谈内容进行分析，以确定将遗传学纳入当前临床实践的障碍和促进因素。对障碍和促进因素进行了分组，并将其映射到与背景相关的 TDF 编码分析框架中：结果：在患者就医过程的各个阶段，都发现了一些TDF领域的障碍。转诊前最常见的障碍是缺乏信心、相关性和经验水平，而转诊阶段的障碍则是与遗传学服务的联系、对遗传学服务的认识以及背景因素。转诊后的障碍包括对专业角色的看法、知识和对家庭影响的信念。研究还发现了相关的促进因素，包括看到遗传诊断的价值、其他医护人员的支持、监督以及与遗传学服务机构的关系：这项定性研究的结果强调了将遗传学纳入言语语言病理学临床实践的障碍和促进因素。这些研究结果将有助于制定有理论依据的实施策略，为未来的语言病理医生提供支持。补充材料：https://doi.org/10.23641/asha.24112800。

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来源期刊

Journal of Speech Language and Hearing Research AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY-REHABILITATION

CiteScore

4.10

自引率

19.20%

发文量

538

审稿时长

4-8 weeks

期刊介绍： Mission: JSLHR publishes peer-reviewed research and other scholarly articles on the normal and disordered processes in speech, language, hearing, and related areas such as cognition, oral-motor function, and swallowing. The journal is an international outlet for both basic research on communication processes and clinical research pertaining to screening, diagnosis, and management of communication disorders as well as the etiologies and characteristics of these disorders. JSLHR seeks to advance evidence-based practice by disseminating the results of new studies as well as providing a forum for critical reviews and meta-analyses of previously published work. Scope: The broad field of communication sciences and disorders, including speech production and perception; anatomy and physiology of speech and voice; genetics, biomechanics, and other basic sciences pertaining to human communication; mastication and swallowing; speech disorders; voice disorders; development of speech, language, or hearing in children; normal language processes; language disorders; disorders of hearing and balance; psychoacoustics; and anatomy and physiology of hearing.