A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss

1996 ◽  
Vol 5 (1) ◽  
pp. 23-32 ◽  
Author(s):  
Chris Halpin ◽  
Barbara Herrmann ◽  
Margaret Whearty
Keyword(s):  
Speech Production ◽  
Hearing Aids ◽  
Role Models ◽  
Speech Intelligibility ◽  
Large Scale ◽  
Speech Language Pathology ◽  
The Family ◽  
Patient Will ◽  
Language Pathology

The family described in this article provides an unusual opportunity to relate findings from genetic, histological, electrophysiological, psychophysical, and rehabilitative investigation. Although the total number evaluated is large (49), the known, living affected population is smaller (14), and these are spread from age 20 to age 59. As a result, the findings described above are those of a large-scale case study. Clearly, more data will be available through longitudinal study of the individuals documented in the course of this investigation but, given the slow nature of the progression in this disease, such studies will be undertaken after an interval of several years. The general picture presented to the audiologist who must rehabilitate these cases is that of a progressive cochlear degeneration that affects only thresholds at first, and then rapidly diminishes speech intelligibility. The expected result is that, after normal language development, the patient may accept hearing aids well, encouraged by the support of the family. Performance and satisfaction with the hearing aids is good, until the onset of the speech intelligibility loss, at which time the patient will encounter serious difficulties and may reject hearing aids as unhelpful. As the histological and electrophysiological results indicate, however, the eighth nerve remains viable, especially in the younger affected members, and success with cochlear implantation may be expected. Audiologic counseling efforts are aided by the presence of role models and support from the other affected members of the family. Speech-language pathology services were not considered important by the members of this family since their speech production developed normally and has remained very good. Self-correction of speech was supported by hearing aids and cochlear implants (Case 5’s speech production was documented in Perkell, Lane, Svirsky, & Webster, 1992). These patients received genetic counseling and, due to the high penetrance of the disease, exhibited serious concerns regarding future generations and the hope of a cure.

scholarly journals Evaluación perceptual de la insuficiencia velofaríngea en personas con fisura del paladar: una revisión integradora de literatura

2021 ◽  
pp. 1
Author(s):  
Felipe Inostroza-Allende ◽  
Gustavo Baeza-Pavez ◽  
Paula Del-Valle-Román ◽  
Jason Fernández-Antifil ◽  
Constanza Yáñez-Pavez ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Speech Production ◽  
Speech Intelligibility ◽  
Velopharyngeal Insufficiency ◽  
Speech Language Pathology ◽  
Speech Articulation ◽  
Cleft Palate Speech ◽  
Language Pathology ◽  
Production Measurement

La insuficiencia velofaríngea (IVF) secundaria de fisura del paladar corresponde al cierre incompleto del mecanismo velofaríngeo durante el habla, debido a una falta de tejido en el paladar blando o las paredes de la faringe, lo cual genera una resonancia hipernasal y una emisión nasal de aire en los sonidos orales. Al respecto, en la literatura existen diversas propuestas para la evaluación perceptual de la IVF. Por esto, el objetivo del presente estudio es describir la evaluación perceptiva auditiva de la insuficiencia velofaríngea, mediante una revisión integradora de literatura. Para ello, en mayo de 2020 las bases de datos electrónicas PUBMED, LILACS, SciELO y Cochrane, fueron consultadas utilizando las palabras claves en inglés: “Velopharyngeal Sphincter”, “Velopharyngeal Insufficiency”, “Cleft Palate”, “Speech Intelligibility”, “Speech Production Measurement”, “Speech Articulation Tests” y “Speech-Language Pathology” y sus respectivos equivalentes en portugués y español. Se seleccionaron artículos originales relacionados al tema, y se creó un protocolo específico para la extracción de los datos. En total se encontraron 2.385 artículos. De ellos, 2.354 fueron excluidos por el título, 13 por el resumen y 3 luego de la lectura del texto completo. Finalmente, a partir de la metodología desarrollada, en esta revisión fueron utilizados 33 artículos. A partir de la revisión realizada se concluye que los parámetros más utilizados en la evaluación son la hipernasalidad, la emisión nasal y la articulación compensatoria asociada a IVF. Estos parámetros son evaluados principalmente en oraciones, habla espontánea y palabras, por un fonoaudiólogo experto, en vivo y mediante grabaciones de audio.

Maximizing Expertise and Collaboration to Support Students With Brain Injury: A Case Study in Speech-Language Pathology

2019 ◽  
Vol 4 (6) ◽  
pp. 1267-1282
Author(s):  
Jessica Salley ◽  
Sarah Krusen ◽  
Margaret Lockovich ◽  
Bethany Wilson ◽  
Brenda Eagan-Johnson ◽  
...  
Keyword(s):  
Brain Injury ◽  
Medical Setting ◽  
Speech Language Pathology ◽  
Speech Language Pathologists ◽  
Team Members ◽  
School Activities ◽  
School Based ◽  
Language Pathology ◽  
Specialized Education

Purpose Through a hypothetical case study, this article aimed to describe an evidence-based approach for speech-language pathologists in managing students with moderate-to-severe traumatic brain injury (TBI), particularly within a formal statewide-supported school-based brain injury team model, such as the BrainSTEPS Brain Injury School Consulting Program operating in Pennsylvania and Colorado. Conclusion Upon transitioning from the medical setting back to school, children with TBI present with unique educational needs. Children with moderate-to-severe TBIs can demonstrate a range of strengths and deficits in speech, language, cognition, and feeding and swallowing, impacting their participation in various school activities. The specialized education, training, and insight of speech-language pathologists, in collaboration with multidisciplinary medical and educational team members, can enable the success of students with TBI when transitioning back to school postinjury ( DePompei & Blosser, 2019 ; DePompei & Tyler, 2018 ). This transition should focus on educational planning, implementation of strategies and supports, and postsecondary planning for vocations or higher education.

Chronic Refractory Cough: A Case Study

2017 ◽  
Vol 2 (3) ◽  
pp. 57-62
Author(s):  
Anna Maria Siciliano
Keyword(s):  
Quality Of Life ◽  
Adult Female ◽  
Chronic Cough ◽  
Treatment Regime ◽  
Speech Language Pathology ◽  
Old Adult ◽  
Language Pathology

This paper presents a successful behavioral case study in treatment of chronic refractory cough in a 60-year-old adult female. The efficacy for speech-language pathology treating chronic cough is discussed along with description of treatment regime. Discussion focuses on therapy approaches used and the patient's report of changes in quality of life and frequency, duration, and severity reduction of her cough after treatment.

Systems-Based Approaches to Speech-Language Pathology Service Delivery for School Age Children

2020 ◽  
pp. 113-136
Author(s):  
RaMonda Horton
Keyword(s):  
Service Delivery ◽  
School Age Children ◽  
School Age ◽  
Speech Language Pathology ◽  
School Based ◽  
Language Pathology ◽  
Culture Environment ◽  
Culture And Development ◽  
The Relationship

This chapter will provide readers with an overview of how a systems-based approach can be used to understand the relationship between culture, environment, language, and disability. It will identify a useful model of ecology, culture, and development that can and should be considered in conjunction with the WHO-ICF framework to guide service delivery in school-based settings. This chapter will also provide an overview of systems-based approaches that can be used when working with children from traditionally marginalized backgrounds. Finally, a case study example will be used to provide guidance on the application of systems-based approaches to service delivery for children in school-based settings.

Revitalising the self-sufficient household economy: the Social Land Programme in Hungary

2019 ◽  
pp. 165-178
Author(s):  
Judit Csoba ◽  
Flórián Sipos
Keyword(s):  
Rural Communities ◽  
Role Models ◽  
Living Standard ◽  
Small Scale ◽  
Positive Role ◽  
Self Sufficiency ◽  
The Social ◽  
The Family ◽  
Social And Physical Environment

The authors introduce the Social Land Programmes, Hungary. Social Land Programmes aim to strengthen self-sufficiency and reduce reliance on social aid by helping people with no financial means to engage with small-scale agriculture. The case study investigated eight rural communities participating in a Social Land Programme. Innovative features include bottom up organisation designed and carried out locally (in contrast to top-down public employment programmes in Hungary). For local leaders, producing food and improving living standard are its main points. They also see various other benefits that include improving the social and physical environment and passing on positive role models within the family. However, they consider national goals of increased employment and self-sustainability to be over optimistic.

The Growth and Dissolution of a Large-Scale Business Enterprise

2012 ◽  
Author(s):  
Gordon Boyce
Keyword(s):  
Twentieth Century ◽  
Large Scale ◽  
Financial Structure ◽  
Industrial Sector ◽  
Business Enterprise ◽  
Early Twentieth Century ◽  
The Social ◽  
The Family ◽  
The World

This book is an in-depth case study of the Furness Withy and Co Shipping Group, which operated both tramp and liner services and was one of the five major British shipping groups of the early twentieth century. It demonstrates how British shipowners of this period generated success by exploring Christopher Furness’ career in relation to the social, political, and cultural currents during a time of tremendous shipping growth in Britain and the establishment of some of the largest shipping firms in the world. It approaches the study from three angles. The first analyses how the Furness Group expanded its shipping activities and became involved with the industrial sector. The second illustrates the organisational and financial structure of the enterprise. Finally, the Group’s leadership and entrepreneurship is scrutinised and placed within the wider context of twentieth century British business. The case study begins in 1870, with an introduction explaining how Christopher Furness came to join the family company, Thomas Furness and Co. in order develop services, expand, and instigate the changes and mergers that brought the Furness Group into existence. There are thirteen chronologically presented chapters, a bibliography, and seven appendices of data including an ownership timeline, tonnage statistics, acquisitions, a list of maritime associates, and a timeline of Christopher Furness’ life. The book concludes in 1919 with the de-merging of the Furness Group’s shipping and industrial holdings, the resignation of the Furness family from the company’s board, the sale of their shares, and the move into managing the firm’s industrial interests.

The “Manic Pixie Dream Girl of the Synth-Pop World” and Her “Baby Doll Lisp”

2019 ◽  
Vol 31 (1) ◽  
pp. 131-156
Author(s):  
Jessica A. Holmes
Keyword(s):  
Physical Disabilities ◽  
Speech Language Pathology ◽  
Popular Music Studies ◽  
Communicative Disorders ◽  
Language Pathology ◽  
English Speaking ◽  
English Speaking World ◽  
Cultural Constructions ◽  
Baby Doll

Audible in speech and song, electro-pop singer Grimes’s so-called “baby doll” lisp generates endless buzz online, ranging from light-hearted adoration, to infantilization, to sexual fetish and even to ableist, misogynist anti-fandom. This article uses the reception of her lisp to build an intersectional theory of lisping across its medical and socio-cultural constructions, bridging work in disability studies, dysfluency studies, voice studies, and popular music studies in the process. I situate the slippage between adoring, infantilizing, fetishistic, and violent characterizations of Grimes’s lisp as reflective of the infantilization of “communicative disorders” in speech language pathology, and the dysfunction associated with feminine coded-speech patterns (e.g. vocal fry and up talk) in the popular imaginary. Lisping is profitably understood as an audible form of “liminal” difference relative to visible physical disabilities (St. Pierre), and to certain ableist, gendered, and racialized conceptions of normative vocality. Ultimately, in the English-speaking world, the lisp is symbolically-coded feminine while exceeding the norms of female vocality, thereby giving rise to a polarizing set of associations that work against female authority and, by extension in Grimes’s case, female musical authorship. Grimes’s reception thus offers a valuable case study for interrogating how misogynist fantasies regarding femininity are thought localized in the female voice, and the symbolic ties between disability and femininity.

Stimulability Measures and Dynamic Assessment of Speech Adaptability

2012 ◽  
Vol 19 (1) ◽  
pp. 12-18 ◽  
Author(s):  
Amy M. Glaspey
Keyword(s):  
Speech Production ◽  
Dynamic Assessment ◽  
Preschool Age ◽  
Traditional Practices ◽  
Speech Language Pathology ◽  
Point Scale ◽  
Language Pathology ◽  
Over Time

Stimulability has a long history in the field of speech-language pathology. The purpose of this article is to show different procedures that have been used over time and how stimulability methodologies are variable across clinicians. Global correction, phoneme-based, and dynamic assessment of speech adaptability approaches are presented. These measures are illustrated using a case sample of a preschool-age girl with severe phonological disorder. Furthermore, dynamic assessment of speech adaptability is highlighted as a newer strategy that encompasses stimulability and expands traditional practices in the diagnostic and treatment phases of intervention. A 15-point scale is used to document a child’s ability to adapt speech production when given a systematic presentation of cues and linguistic environments.

Assessment of Reliable Change Using 95% Credible Intervals for the Differences in Proportions: A Statistical Analysis for Case-Study Methodology

2015 ◽  
Vol 58 (3) ◽  
pp. 728-739 ◽  
Author(s):  
Rachael Unicomb ◽  
Kim Colyvas ◽  
Elisabeth Harrison ◽  
Sally Hewat
Keyword(s):  
Statistical Analysis ◽  
Case Studies ◽  
Clinical Significance ◽  
Communication Disorders ◽  
Speech Language Pathology ◽  
Reliable Change ◽  
Case Study Methodology ◽  
Language Pathology ◽  
Study Methodology

Purpose Case-study methodology studying change is often used in the field of speech-language pathology, but it can be criticized for not being statistically robust. Yet with the heterogeneous nature of many communication disorders, case studies allow clinicians and researchers to closely observe and report on change. Such information is valuable and can further inform large-scale experimental designs. In this research note, a statistical analysis for case-study data is outlined that employs a modification to the Reliable Change Index (Jacobson & Truax, 1991). The relationship between reliable change and clinical significance is discussed. Example data are used to guide the reader through the use and application of this analysis. Method A method of analysis is detailed that is suitable for assessing change in measures with binary categorical outcomes. The analysis is illustrated using data from one individual, measured before and after treatment for stuttering. Conclusions The application of this approach to assess change in categorical, binary data has potential application in speech-language pathology. It enables clinicians and researchers to analyze results from case studies for their statistical and clinical significance. This new method addresses a gap in the research design literature, that is, the lack of analysis methods for noncontinuous data (such as counts, rates, proportions of events) that may be used in case-study designs.

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