Barriers/enablers to genetics in speech-language pathology (Lauretta et al., 2023)

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 S1. Clinical vignette.Supplemental Material S2. Interview guide.Supplemental Material S3. TDF domains in context.Supplemental Material S4. Complete list of barriers and associated enablers.Lauretta, M. L., Jarmolowicz, A., Amor, D. J., Best, S., & Morgan, A. T. (2023). An investigation of barriers and enablers for genetics in speech-language pathology explored through a case study of childhood apraxia of speech. Journal of Speech, Language, and Hearing Research. Advance online publication. https://doi.org/10.1044/2023_JSLHR-22-00714Publisher Note: This article is part of the Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium.</p

Stuttering burden and psychosocial impact (Engelen et al., 2024)

Purpose: Stuttering is a speech condition that can have a major impact on a person’s quality of life. This descriptive study aimed to identify subgroups of people who stutter (PWS) based on stuttering burden and to investigate differences between these subgroups on psychosocial aspects of life.Method: The study included 618 adult participants who stutter. They completed a detailed survey examining stuttering symptomatology, impact of stuttering on anxiety, education and employment, experience of stuttering, and levels of depression, anxiety, and stress. A two-step cluster analytic procedure was performed to identify subgroups of PWS, based on self-report of stuttering frequency, severity, affect, and anxiety, four measures that together inform about stuttering burden.Results: We identified a high- (n = 230) and a low-burden subgroup (n = 372). The high-burden subgroup reported a significantly higher impact of stuttering on education and employment, and higher levels of general depression, anxiety, stress, and overall impact of stuttering. These participants also reported that they trialed more different stuttering therapies than those with lower burden.Conclusions: Our results emphasize the need to be attentive to the diverse experiences and needs of PWS, rather than treating them as a homogeneous group. Our findings also stress the importance of personalized therapeutic strategies for individuals with stuttering, considering all aspects that could influence their stuttering burden. People with high-burden stuttering might, for example, have a higher need for psychological therapy to reduce stuttering-related anxiety. People with less emotional reactions but severe speech distortions may also have a moderate to high burden, but they may have a higher need for speech techniques to communicate with more ease. Future research should give more insights into the therapeutic needs of people highly burdened by their stuttering.Supplemental Material S1. Identification and description of stuttering subgroups.Supplemental Material S2. Results of sensitivity analysis for age groups.Supplemental Material S3. R code for cluster inspection and principal component analysis.Engelen, M. M., Franken, M.-C. J. P., Stipdonk, L. W., Horton, S. E., Jackson, V. E., Reilly, S., Morgan, A. T., Fisher, S. E., van Dulmen, S., & Eising, E. (2024). The association between stuttering burden and psychosocial aspects of life in adults. Journal of Speech, Language, and Hearing Research, 67(5), 1385–1399. https://doi.org/10.1044/2024_JSLHR-23-00562</p