Genetics Content in the Graduate Audiology Curriculum

2004 ◽  
Vol 13 (2) ◽  
pp. 126-134 ◽  
Author(s):  
Kathleen S. Arnos ◽  
Maria G. Della Rocca ◽  
Michael A. Karchmer ◽  
Brandt Culpepper ◽  
Wendy F. Cohn
Keyword(s):  
Hearing Loss ◽  
Core Competencies ◽  
Academic Programs ◽  
Diagnostic Process ◽  
Family History Information ◽  
Genetic Mechanisms ◽  
Children With Hearing Loss ◽  
Current Report

Astounding progress has been made in the identification and characterization of genes for hearing loss, which has led to an increasing role of genetics evaluation and testing in the diagnostic process for children with hearing loss. The importance of health professionals such as audiologists gaining core competencies in genetics has been recognized. The current report describes a survey of academic programs in audiology designed to determine the extent to which genetics content is included in the curriculum. Responses from 56% of existing academic programs indicate that 95% include some genetics content in their programs, with the total number of classroom hours ranging from 2 to 65. Most programs included information on basic genetic mechanisms, syndromes, and interpreting family history information, while many fewer reported covering the molecular basis of hearing loss, genetic testing, or ethical or legal issues. The results of this survey demonstrate the need to incorporate more genetics content into audiology curricula and suggest strategies for assisting audiology faculty with this process.

scholarly journals Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1237
Author(s):  
Anna Morgan ◽  
Stefania Lenarduzzi ◽  
Beatrice Spedicati ◽  
Elisabetta Cattaruzzi ◽  
Flora Maria Murru ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Disease Genes ◽  
Italian Population ◽  
Essential Information ◽  
Whole Exome ◽  
Relevant Role ◽  
Multiplex Ligation Probe Amplification ◽  
Syndromic Hearing Loss

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients’ future management.

Professionals’ Perspectives on Supporting Deaf Multilingual Learners and Their Families

2020 ◽  
Vol 26 (1) ◽  
pp. 70-84
Author(s):  
Kathryn Crowe ◽  
Mark Guiberson
Keyword(s):  
Decision Making ◽  
Hearing Loss ◽  
Phenomenological Study ◽  
Language Choice ◽  
Language Management ◽  
Knowledge Resources ◽  
Raising Children ◽  
Children With Hearing Loss ◽  
Insight Into

Abstract Parents frequently report that advice from professionals is important in making decisions about how their child with hearing loss will communicate. Little is currently known about how professionals support parents raising children with hearing loss in spoken language multilingual environments, children who are described as d/Deaf multilingual learners (DMLs). The purpose of this phenomenological study was to gain insight into professionals’ perspectives and experiences working with such families, particularly in relation to supporting parents in decision-making about multilingualism and language choice. Nineteen professionals discussed their experiences working with DMLs and their families, the role of professionals in decision-making about multilingualism and language choice, and the factors that they considered were important when supporting DMLs and their families. Inductive thematic analysis yielded three themes: child characteristics (language, development), negotiating and supporting language (information, parents’ language, role of language, timing, leadership, language management), and professional issues (knowledge, resources). This paper provides an important insight into professional considerations in supporting DMLs and their families, such as the role and functioning of evidence-based practice.

Vocabulary development in children with hearing loss: The role of child, family, and educational variables

2012 ◽  
Vol 33 (1) ◽  
pp. 119-128 ◽  
Author(s):  
Karien M. Coppens ◽  
Agnes Tellings ◽  
William van der Veld ◽  
Robert Schreuder ◽  
Ludo Verhoeven
Keyword(s):  
Hearing Loss ◽  
Vocabulary Development ◽  
Children With Hearing Loss ◽  
Educational Variables

Listening, Language, and Literacy Development and Children With Hearing Loss Who are Learning Spoken Language

2020 ◽  
pp. 36-51
Author(s):  
Lyn Robertson
Keyword(s):  
Hearing Loss ◽  
Literary Criticism ◽  
Meaning Making ◽  
Spoken Language ◽  
Language And Literacy ◽  
Symbol Systems ◽  
Thinking Processes ◽  
Children With Hearing Loss ◽  
The Individual

This chapter explores the acquisition of spoken language and literacy in children with hearing loss whose auditory access through the use of hearing technology enables them to listen, and it examines the relationships among language, thought, and print that offer explanation of the role of spoken language as the foundation for literacy. It defines reading and writing as thinking processes that make use of symbol systems representative of spoken language and gives attention to the numerous cueing systems and conventions comprising representations of meaning. Drawing from cognitive psychology, linguistics, psycholinguistics, sociolinguistics, literary criticism, and critical traditions developed over time through study of people with typical hearing, this chapter argues that meaning making resides in the individual in the presence of symbols both heard and seen and for maximizing spoken language acquisition in children with hearing loss so as to prepare them for lifelong literacy and language use.

Impact of Meeting Early Hearing Detection and Intervention Benchmarks on Spoken Language

2021 ◽  
pp. 105381512110252
Author(s):  
Brittany Grey ◽  
Elizabeth K. Deutchki ◽  
Emily A. Lund ◽  
Krystal L. Werfel
Keyword(s):  
Hearing Loss ◽  
Early Intervention ◽  
Spoken Language ◽  
Language Outcomes ◽  
Number Of Children ◽  
Predictive Role ◽  
Outcomes For Children ◽  
Children With Hearing Loss ◽  
Unique Predictor

This study compared preschool spoken language outcomes for children with hearing loss who met the Early Hearing Detection and Intervention (EHDI) guidelines to those who did not, as well as compared outcomes for those who met the current EHDI guidelines to those who met the earlier benchmarks. Finally, the predictive role of meeting each component of the guidelines was evaluated relative to language outcomes. Children who met the EHDI guidelines had higher language scores than those who did not; however, there was no difference between children who met the current guidelines and those who met the earlier benchmarks. Entering early intervention by 6 months of age was the only unique predictor of spoken language outcomes. The findings suggest that EHDI programs should target increasing the number of children with hearing loss who meet the current 1-3-6 benchmarks with a particular focus on enrollment in early intervention by 6 months.

scholarly journals The role of neuroradiology in intracerebral haemorrhage

2011 ◽  
Vol 2 (1S) ◽  
pp. 31
Author(s):  
Daniele Prosetti ◽  
Francesca Vannozzi ◽  
Fabio Scazzeri
Keyword(s):  
Case Report ◽  
Intracranial Haemorrhage ◽  
Case Reports ◽  
Cerebral Haemorrhage ◽  
Diagnostic Process ◽  
Digital Subtraction ◽  
Computerised Tomography ◽  
Diagnostic Role

The neuroradiologist plays a fundamental role in evaluating cerebral haemorrhage, from the clinical suspect until the final diagnosis.The neuroradiologist’s role consists not only in highlighting the presence of an haemorrhage, but also in specifying its localization and its nature, and in assessing, together with the neurosurgeon, the adequate treatment.With the aid of some case reports, this article underlines the role of neuroradiologist in the diagnostic process. For each case report discussed, computerised tomography (CT) and digital subtraction angiography (DSA) findings are given, to better highlight the diagnostic role of these techniques in the detection and characterization of intracranial haemorrhage.

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