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1.
J Speech Lang Hear Res ; 67(5): 1385-1399, 2024 May 07.
Artículo en Inglés | MEDLINE | ID: mdl-38625147

RESUMEN

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: https://doi.org/10.23641/asha.25582980.


Asunto(s)
Ansiedad , Costo de Enfermedad , Depresión , Calidad de Vida , Tartamudeo , Humanos , Tartamudeo/psicología , Femenino , Masculino , Adulto , Calidad de Vida/psicología , Persona de Mediana Edad , Ansiedad/psicología , Depresión/psicología , Depresión/etiología , Adulto Joven , Estrés Psicológico/psicología , Adolescente , Anciano , Empleo/psicología , Encuestas y Cuestionarios , Autoinforme
2.
J Speech Lang Hear Res ; : 1-10, 2023 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-38052068

RESUMEN

PURPOSE: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost and time preclude in-depth assessment by a clinician. Equally, there is increasing emphasis on the need to recognize an individual's experience of their own condition. Here, we examined the agreement between self-reported stuttering severity compared to clinician ratings during a speech assessment. As a secondary objective, we determined whether self-reported stuttering severity correlated with an individual's subjective impact of stuttering. METHOD: Speech-language pathologists conducted face-to-face speech assessments with 195 participants (137 males) aged 5-84 years, recruited from a cohort of people with self-reported stuttering. Stuttering severity was rated on a 10-point scale by the participant and by two speech-language pathologists. Participants also completed the Overall Assessment of the Subjective Experience of Stuttering (OASES). Clinician and participant ratings were compared. The association between stuttering severity and the OASES scores was examined. RESULTS: There was a strong positive correlation between speech-language pathologist and participant-reported ratings of stuttering severity. Participant-reported stuttering severity correlated weakly with the four OASES domains and with the OASES overall impact score. CONCLUSIONS: Participants were able to accurately rate their stuttering severity during a speech assessment using a simple one-item question. This finding indicates that self-report stuttering severity is a suitable method for large-scale data collection. Findings also support the collection of self-report subjective experience data using questionnaires, such as the OASES, which add vital information about the participants' experience of stuttering that is not captured by overt speech severity ratings alone.

3.
Brain ; 146(12): 5086-5097, 2023 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-37977818

RESUMEN

Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.


Asunto(s)
Tartamudeo , Humanos , Animales , Ratones , Tartamudeo/genética , Tartamudeo/patología , Peptidil-Prolil Isomerasa F , Habla , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Mapeo Encefálico
4.
J Fluency Disord ; 78: 106015, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37776613

RESUMEN

BACKGROUND: Treatment of school-age children (6-12 years of age) who stutter is a public health priority. Their clinical needs include a psychosocial focus and stuttering reduction. For the latter clinical need, there is a critical window of opportunity for these children warranting research attention. PURPOSE: The purpose of the review is to guide future clinical research by establishing (a) what interventions are associated with stuttering reduction for school-age children (b) the reported immediate and longer-term effects of those interventions, and (c) the level of evidence for these interventions in terms of study design. METHODS: Fourteen databases and three conference proceedings were searched for interventions used to reduce stuttering in school-age children. Primary outcomes were mean stuttering reductions pre-treatment, immediately post-treatment, and any follow-up assessments. RESULTS: Of the 4305 studies identified from the databases, 67 studies met inclusion criteria. Five different treatment approaches were reported in the literature that might reduce stuttering for a school-age child, but with varying effect sizes. These include (a) operant methods, (b) speech restructuring, (c) combined operant methods and speech restructuring, (d) machine-driven treatments, and (e) treatments with a cognitive behaviour therapy component. CONCLUSIONS: Operant methods warrant investigation in future clinical trial research, as do variants of speech restructuring. Hybrid approaches showed encouraging results, including speech restructuring variants combined with operant methods or with cognitive behaviour therapy. However, evidence is preliminary only at Phase I and II trials. Several treatments with reported clinical promise have been overlooked for decades and require further investigation.


Asunto(s)
Terapia Cognitivo-Conductual , Tartamudeo , Humanos , Niño , Tartamudeo/terapia , Tartamudeo/psicología , Resultado del Tratamiento , Logopedia/métodos , Habla
5.
BMJ Open ; 13(8): e071004, 2023 08 16.
Artículo en Inglés | MEDLINE | ID: mdl-37586864

RESUMEN

INTRODUCTION: Australian practices for diagnosing fetal alcohol spectrum disorder (FASD) are lengthy and require specialist expertise. Specialist teams are based in urban locations; they are expensive and have prolonged waitlists. Innovative, flexible solutions are needed to ensure First Nations children living in rural/remote communities have culturally appropriate and equitable access to timely diagnosis and support. This study compares the accuracy of rapid assessments (index tests) that can be administered by a range of primary healthcare practitioners to specialist standardised FASD assessments (reference tests). The cost-efficiency of index tests will be compared with reference tests. METHODS AND ANALYSIS: At least 200 children aged 6-16 years at-risk of FASD will be recruited across at least seven study sites. Following standards for reporting diagnostic accuracy study (STARD) guidelines, all children will complete index and reference tests. Diagnostic accuracy statistics (including receiver operating curves, sensitivity, specificity, positive and negative predictive values and likelihood ratios) will identify whether rapid assessments can accurately identify: (1) the presence of an FASD diagnosis and (2) impairment in each neurodevelopmental domain, compared to comprehensive assessments. Direct and indirect healthcare costs for index tests compared to reference tests will be collected in primary healthcare and specialist settings. ETHICS AND DISSEMINATION OF RESULTS: Children's Health Queensland Hospital and Health Service Human Research Ethics Committee (HREC/20/QCHQ/63173); Griffith University Human Research Ethics Committee (2020/743). Results will assist in validating the use of index tests as part of a tiered neurodevelopmental assessment process that was co-designed with First Nations community and primary healthcare practitioners. Outcomes will be summarised and provided to participating practitioners and sites, and disseminated to community health services and consumers. Findings will be presented at national and international conferences and published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: ACTRN12622000498796.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal , Niño , Femenino , Embarazo , Humanos , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Australia , Costos de la Atención en Salud , Salud Infantil , Hospitales Pediátricos
6.
J Med Internet Res ; 25: e46781, 2023 07 10.
Artículo en Inglés | MEDLINE | ID: mdl-37428547

RESUMEN

BACKGROUND: The need for scalable delivery of mental health care services that are efficient and effective is now a major public health priority. Artificial intelligence (AI) tools have the potential to improve behavioral health care services by helping clinicians collect objective data on patients' progress, streamline their workflow, and automate administrative tasks. OBJECTIVE: The aim of this study was to determine the feasibility, acceptability, and preliminary efficacy of an AI platform for behavioral health in facilitating better clinical outcomes for patients receiving outpatient therapy. METHODS: The study was conducted at a community-based clinic in the United States. Participants were 47 adults referred for outpatient, individual cognitive behavioral therapy for a main diagnosis of a depressive or anxiety disorder. The platform provided by Eleos Health was compared to a treatment-as-usual (TAU) approach during the first 2 months of therapy. This AI platform summarizes and transcribes the therapy session, provides feedback to therapists on the use of evidence-based practices, and integrates these data with routine standardized questionnaires completed by patients. The information is also used to draft the session's progress note. Patients were randomized to receive either therapy provided with the support of an AI platform developed by Eleos Health or TAU at the same clinic. Data analysis was carried out based on an intention-to-treat approach from December 2022 to January 2023. The primary outcomes included the feasibility and acceptability of the AI platform. Secondary outcomes included changes in depression (Patient Health Questionnaire-9) and anxiety (Generalized Anxiety Disorder-7) scores as well as treatment attendance, satisfaction, and perceived helpfulness. RESULTS: A total of 72 patients were approached, of whom 47 (67%) agreed to participate. Participants were adults (34/47, 72% women and 13/47, 28% men; mean age 30.64, SD 11.02 years), with 23 randomized to the AI platform group, and 24 to TAU. Participants in the AI group attended, on average, 67% (mean 5.24, SD 2.31) more sessions compared to those in TAU (mean 3.14, SD 1.99). Depression and anxiety symptoms were reduced by 34% and 29% in the AI platform group versus 20% and 8% for TAU, respectively, with large effect sizes for the therapy delivered with the support of the AI platform. No group difference was found in 2-month treatment satisfaction and perceived helpfulness. Further, therapists using the AI platform submitted their progress notes, on average, 55 hours earlier than therapists in the TAU group (t=-0.73; P<.001). CONCLUSIONS: In this randomized controlled trial, therapy provided with the support of Eleos Health demonstrated superior depression and anxiety outcomes as well as patient retention, compared with TAU. These findings suggest that complementing the mental health services provided in community-based clinics with an AI platform specializing in behavioral treatment was more effective in reducing key symptoms than standard therapy. TRIAL REGISTRATION: ClinicalTrials.gov NCT05745103; https://classic.clinicaltrials.gov/ct2/show/NCT05745103.


Asunto(s)
Ansiedad , Terapia Cognitivo-Conductual , Depresión , Adulto , Femenino , Humanos , Masculino , Ansiedad/terapia , Inteligencia Artificial , Terapia Conductista , Depresión/terapia , Resultado del Tratamiento
7.
Psychiatr Serv ; 74(12): 1291-1293, 2023 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-37287229

RESUMEN

The American Medical Association adopted a resolution in June 2022 recognizing voting as a social determinant of health. As psychiatric professionals and trainees with experience in civic health, the authors argue that psychiatrists must consider the relationship between voting and mental health as part of care delivery. People with psychiatric illness can experience unique barriers to voting and garner mental health benefits from civic engagement. Provider-led activities to promote voting are accessible and simple. Given the benefits of voting, and the availability of interventions to foster voter engagement, psychiatrists have an obligation to promote voting access among their patients.


Asunto(s)
Trastornos Mentales , Psiquiatría , Estados Unidos , Humanos , Trastornos Mentales/terapia , Salud Mental , Política
8.
Int J Lang Commun Disord ; 58(5): 1829-1845, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37132231

RESUMEN

BACKGROUND: Contemporary clinical and empirical perspectives indicate that management of the psychosocial features of stuttering is fundamental for effective treatment. Interventions that improve psychosocial outcomes for school-age children who stutter are, therefore, needed. AIMS: This systematic review identifies what psychosocial outcomes have been explored in existing school-age clinical research, the measures used and the potential treatment effects. This will provide guidance for developing interventions that reflect contemporary perspectives of stuttering management. METHODS & PROCEDURES: A total of 14 databases and three conference proceedings were searched for clinical reports of psychosocial outcomes of children aged 6-12 years. The review did not include pharmacological interventions. Psychosocial measures and outcomes were analysed in each study based on data recorded pre-treatment, immediately post-treatment and for any follow-up assessments. MAIN CONTRIBUTIONS: Of the 4051 studies identified from the databases, a total of 22 studies met criteria for inclusion in the review. From these 22 studies, the review identified four prominent psychosocial domains that have been explored in school-age clinical research to date: Impact of stuttering, communication attitude, anxiety and speech satisfaction. These domains vary in measurement and effect sizes. Two behavioural treatments were associated with anxiety reduction, even though they did not contain anxiolytic procedures. No evidence of potential treatment effects emerged for communication attitudes. Quality of life-an important psychosocial domain pertinent to health economics-did not feature in school-age clinical reports. CONCLUSIONS & IMPLICATIONS: The psychosocial features of stuttering need to be managed during the school years. Three psychosocial domains-impact of stuttering, anxiety and speech satisfaction-show evidence of potential treatment effects. This review provides direction for future clinical research so that speech-language pathologists can effectively and holistically manage school-age children who stutter. WHAT THIS PAPER ADDS: What is already known on the subject Elevated levels of anxiety are apparent for children and adolescents who stutter. Therefore, the need to assess and manage psychosocial features of stuttering are expertly regarded as clinical priorities. Clinical trials of such psychosocial features of stuttering for children aged 6-12 years are not well advanced and, therefore, do not reflect current best practice management of this disorder. What this study adds to existing knowledge This systematic review identifies four different psychosocial domains measured and reported in the literature for school-age stuttering management. For three psychosocial domains, some evidence of potential treatment effects emerged with participant numbers greater than 10: Impact of stuttering, anxiety and speech satisfaction. Though treatment effect sizes varied, there is a suggestion that cognitive behaviour therapy can improve anxiety of school-age children who stutter. There is also suggestion that two other behavioural treatments can improve anxiety of school-age children who stutter. What are the potential or actual clinical implications of this work? Given the essential need for school-age children who stutter to receive management of any speech-related anxiety they may experience, it would be productive to discover in future clinical research what interventions could contribute to that goal-behavioural or psychosocial, or both. This review reveals that cognitive behaviour therapy, and other behavioural treatments, are associated with anxiety reductions. Such approaches should be considered for future clinical trial research to help advance the evidence base for managing school-age stuttering.


Asunto(s)
Tartamudeo , Adolescente , Humanos , Niño , Tartamudeo/diagnóstico , Tartamudeo/terapia , Tartamudeo/psicología , Calidad de Vida , Habla , Ansiedad/terapia , Ansiedad/psicología , Comunicación
9.
Aust J Prim Health ; 29(1): 30-37, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36372153

RESUMEN

BACKGROUND: This qualitative study explored staff experiences of co-designing and implementing a novel interprofessional (IP) First Nations child health assessment (the helpful check), developed in partnership with a remote North-Queensland Aboriginal CommunityControlled Health Organisation. METHOD: Eleven staff across two teams (family health and allied health) were involved in co-designing and implementing the child health assessment and associated IP practices. Interviews were undertaken using a semi-structured interview template and were audio recorded and transcribed verbatim. Data were analysed using thematic analysis. RESULTS: Three overarching themes were developed: (1) connect teams by building strong relationships; (2) leave space for helpful check processes to evolve; and (3) integrate helpful check processes into routine practice to sustain change. CONCLUSIONS: Results demonstrate how the incorporation of IP practices into a remote primary healthcare setting led to perceived benefits for both the health service staff and clients.


Asunto(s)
Salud Infantil , Servicios de Salud , Niño , Humanos , Queensland , Investigación Cualitativa
10.
Blood ; 141(14): 1737-1754, 2023 04 06.
Artículo en Inglés | MEDLINE | ID: mdl-36577137

RESUMEN

HOXA9 is commonly upregulated in acute myeloid leukemia (AML), in which it confers a poor prognosis. Characterizing the protein interactome of endogenous HOXA9 in human AML, we identified a chromatin complex of HOXA9 with the nuclear matrix attachment protein SAFB. SAFB perturbation phenocopied HOXA9 knockout to decrease AML proliferation, increase differentiation and apoptosis in vitro, and prolong survival in vivo. Integrated genomic, transcriptomic, and proteomic analyses further demonstrated that the HOXA9-SAFB (H9SB)-chromatin complex associates with nucleosome remodeling and histone deacetylase (NuRD) and HP1γ to repress the expression of factors associated with differentiation and apoptosis, including NOTCH1, CEBPδ, S100A8, and CDKN1A. Chemical or genetic perturbation of NuRD and HP1γ-associated catalytic activity also triggered differentiation, apoptosis, and the induction of these tumor-suppressive genes. Importantly, this mechanism is operative in other HOXA9-dependent AML genotypes. This mechanistic insight demonstrates the active HOXA9-dependent differentiation block as a potent mechanism of disease maintenance in AML that may be amenable to therapeutic intervention by targeting the H9SB interface and/or NuRD and HP1γ activity.


Asunto(s)
Leucemia Mieloide Aguda , Proteínas de Unión a la Región de Fijación a la Matriz , Humanos , Proteómica , Proteínas de Homeodominio/genética , Proteínas de Homeodominio/metabolismo , Leucemia Mieloide Aguda/tratamiento farmacológico , Factores de Transcripción/genética , Proteínas Asociadas a Matriz Nuclear , Cromatina , Receptores de Estrógenos/genética , Receptores de Estrógenos/uso terapéutico , Proteínas de Unión a la Región de Fijación a la Matriz/genética
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