更新于：2024-05-01
Stuttering
口吃
更新于：2024-05-01
基本信息
别名 Dysphemia、Non-fluent speech、STUTTERING + [20] |
简介 A disturbance in the normal fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance is characterized by frequent repetitions or prolongations of sounds or syllables. Various other types of speech dysfluencies may also be involved including interjections, broken words, audible or silent blocking, circumlocutions, words produced with an excess of physical tension, and monosyllabic whole word repetitions. Stuttering may occur as a developmental condition in childhood or as an acquired disorder which may be associated with BRAIN INFARCTIONS and other BRAIN DISEASES. (From DSM-IV, 1994) |
关联
靶点 |
作用机制 |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段 |
首次获批国家/地区 |
首次获批日期 |
靶点 |
作用机制 |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段 |
首次获批国家/地区 |
首次获批日期 |
靶点 |
作用机制 |
在研机构 |
原研机构 |
在研适应症 |
非在研适应症 |
最高研发阶段 |
首次获批国家/地区 |
首次获批日期 |
Assessing safety and compliance of iLidcombe: an online program for children who stutter
Psychosocial outcomes of adults and teens who stutter undertaking group improv therapy
Listener perceptions of the speech of children who stutter with and without the use of trained speech patterns.
100 项与 口吃 相关的临床结果
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100 项与 口吃 相关的转化医学
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2024-02-16Molecular psychiatry
Genetic architecture of childhood speech disorder: a review.
Review
作者: Angela T Morgan ; David J Amor ; Miya D St John ; Ingrid E Scheffer ; Michael S Hildebrand
Severe speech disorders lead to poor literacy, reduced academic attainment and negative psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was recognized, implying a genetic basis; but the molecular genetic basis remained unknown. In 2001, investigation of a large three generational family with severe speech disorder, known as childhood apraxia of speech (CAS), revealed the first causative gene; FOXP2. A long hiatus then followed for CAS candidate genes, but in the past three years, genetic analysis of cohorts ascertained for CAS have revealed over 30 causative genes. A total of 36 pathogenic variants have been identified from 122 cases across 3 cohorts in this nascent field. All genes identified have been in coding regions to date, with no apparent benefit at this stage for WGS over WES in identifying monogenic conditions associated with CAS. Hence current findings suggest a remarkable one in three children have a genetic variant that explains their CAS, with significant genetic heterogeneity emerging. Around half of the candidate genes identified are currently supported by medium (6 genes) to strong (9 genes) evidence supporting the association between the gene and CAS. Despite genetic heterogeneity; many implicated proteins functionally converge on pathways involved in chromatin modification or transcriptional regulation, opening the door to precision diagnosis and therapies. Most of the new candidate genes for CAS are associated with previously described neurodevelopmental conditions that include intellectual disability, autism and epilepsy; broadening the phenotypic spectrum to a distinctly milder presentation defined by primary speech disorder in the setting of normal intellect. Insights into the genetic bases of CAS, a severe, rare speech disorder, are yet to translate to understanding the heritability of more common, typically milder forms of speech or language impairment such as stuttering or phonological disorder. These disorders likely follow complex inheritance with polygenic contributions in many cases, rather than the monogenic patterns that underly one-third of patients with CAS. Clinical genetic testing for should now be implemented for individuals with CAS, given its high diagnostic rate, which parallels many other neurodevelopmental disorders where this testing is already standard of care. The shared mechanisms implicated by gene discovery for CAS highlight potential new targets for future precision therapies.
2024-02-16American journal of speech-language pathology
Designing a Module on Stuttering and Cluttering: A Guide for Speech-Language Pathology Educators.
Article
作者: Amy Connery ; Caitríona Ní Shé
PURPOSE:
Due to the scope of practice of speech-language pathology (SLP) expanding considerably in recent times, there is reduced emphasis on certain communication conditions within the curricula of SLP university programs. Stuttering and cluttering are neglected components of such curricula, despite the complex clinical skill set required to work with these client groups. Evaluation of the content and quality of modules on stuttering and cluttering is warranted to ensure that SLP students are graduating with adequate competence and confidence for supporting people with these conditions. This tutorial, based on a review of the literature, aims to provide guidance to educators who are designing or revising such modules.
METHOD:
The All Ireland Society for Higher Education (AISHE) model for module design provides a practical and theoretically underpinned guide to educators in higher education on the design of a new module or the review of an existing one. The model's seven key components are discussed, and their application to a module on stuttering and cluttering is outlined.
RESULTS:
The AISHE model provides a systematic and user-friendly approach to module design in SLP university programs. It supports educators who are designing a new module or revising a module currently being taught on stuttering and cluttering.
CONCLUSIONS:
Educators are encouraged to familiarize themselves with the seven components of the AISHE model and to use it as a tool to design or revise modules on stuttering and cluttering. This will ensure that SLP students are graduating with increased competence and confidence in working with these client groups.
2024-02-15Journal of speech, language, and hearing research : JSLHR
Evaluation of an Integrated Fluency and Acceptance and Commitment Therapy Intervention for Adolescents and Adults Who Stutter.
Article
作者: Alice K Hart ; Lauren J Breen ; Neville W Hennessey ; Janet M Beilby
PURPOSE:
Developmental stuttering is a complex and multifaceted neurodevelopmental disorder that may cause pervasive negative consequences for adults who stutter (AWS). Historically, intervention for AWS has primarily addressed speech fluency, with less focus on the covert psychosocial aspects of the disorder. The purpose of this article is to report on a feasibility trial evaluating a novel integrated intervention that combines traditional stuttering management techniques with Acceptance and Commitment Therapy (ACT) for AWS.
METHOD:
Twenty-nine AWS participated in the feasibility trial. All participants successfully completed a combined fluency and ACT intervention, titled the fluency and Acceptance and Commitment Therapy for Stuttering (fACTS) Program. As this was a feasibility study, no control group was included. Intervention was administered by two certified practicing speech-language pathologists, over eight 60- to 90-min sessions.
RESULTS:
Generalized linear mixed modeling was used to determine change from pre- to post-intervention and follow-up. Significant pre- and post-intervention improvements in self-efficacy, psychosocial functioning, and psychological flexibility were observed, along with significant reductions in observable stuttering behaviors (i.e., stuttered speech frequency). Intervention gains for all variables of interest were maintained 3 and 6 months post-intervention.
CONCLUSIONS:
The fACTS Program was created to be a holistic and flexible intervention to promote self-efficacy beliefs and address stuttering-related psychosocial impacts and speech fluency goals of AWS. Preliminary results indicated positive improvement in all psychosocial outcomes (i.e., self-efficacy, psychosocial impact, and psychological flexibility) and observable speech fluency following completion of the program. Future clinical trials of the fACTS Program with an included control group will further investigate the mechanisms of change for the positive effects observed.
分析
对领域进行一次全面的分析。
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