NIDCD Working Group Considerations for Developing and Implementing Genetic Diagnostic Tests for Hereditary Hearing Impairment and Other Communication Disorders

1998 ◽  
Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 43
Author(s):  
Tung-Lin Lee ◽  
Pei-Hsuan Lin ◽  
Pei-Lung Chen ◽  
Jin-Bon Hong ◽  
Chen-Chi Wu

Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.


Revista CEFAC ◽  
2019 ◽  
Vol 21 (3) ◽  
Author(s):  
Vanessa Boldarini de Godoy ◽  
Lia Netto Vaz Faiad ◽  
Maria Aparecida Miranda de Paula Machado ◽  
Patrícia de Abreu Pinheiro Crenitte ◽  
Dionísia Aparecida Cusin Lamônica ◽  
...  

ABSTRACT Objective: to verify if the current Brazilian Legislation assures the effective school inclusion of individuals with communication disorders. Methods: the present study is an integrative review. Legislation related to the topic was searched on public databases, such as the website of the Planalto Palace (Brazilian Federal government headquarters), the website of the Culture and Education Ministry (Ministério de Educação e Cultura - MEC) the website of the National Education Council from Federal Government. Brazilian laws, ordinances and guidelines regarding special education of individuals with autism, intellectual disability, hearing impairment and dyslexia were consulted, since the descriptor "Communication Disorders" did not show any results. Results: twenty-one (21) identified norms met the inclusion criteria. Among these, thirteen (13) address disabilities in a generalized manner. The other eight (8) regulations are specific in relation to autism, intellectual disability, hearing impairment and dyslexia. Conclusion: despite the significant number of norms, the current Brazilian legislation does not allow for real school inclusion. Individuals with communication disorders do not have a specific legislation that could guide the peculiarities of each disorder, as well as their special educational needs. Thus, it was concluded that these individuals need legal support respecting their specificities, to allow their effective school inclusion.


2012 ◽  
Vol 23 (10) ◽  
pp. 757-767 ◽  
Author(s):  
Charles S. Watson ◽  
Gary R. Kidd ◽  
James D. Miller ◽  
Cas Smits ◽  
Larry E. Humes

Background: An estimated 36 million US citizens have impaired hearing, but nearly half of them have never had a hearing test. As noted by a recent National Institutes of Health/National Institute on Deafness and Other Communication Disorders (NIH/NIDCD) Working Group, “In the United States (in contrast to many other nations) there are no readily accessible low cost hearing screening programs…” (Donahue et al, 2010, p. 2). Since 2004, telephone administered screening tests utilizing three-digit sequences presented in noise have been developed, validated, and implemented in seven countries. Each of these tests has been based on a test protocol conceived by Smits and colleagues in The Netherlands. Purpose: Investigators from Communication Disorders Technology, Inc., Indiana University, and VU University Medical Center of Amsterdam agreed to collaborate in the development and validation of a screening test for hearing impairment suitable for delivery over the telephone, for use in the United States. This test, utilizing spoken three-digit sequences (triplets), was to be based on the design of Smits and his colleagues. Research Design: A version of the digits-in-noise test was developed utilizing digit triplets spoken in Middle American dialect. The stimuli were individually adjusted to speech-to-noise ratio (SNR) values yielding 50% correct identification, on the basis of data collected from a group of 10 young adult listeners with normal hearing. A final set of 64 homogeneous stimuli were selected from an original 160 recorded triplets. Each test consisted of a series of 40 triplets drawn at random, presented in a noise background. The SNR threshold for 50% correct identification of the triplets was determined by a one-down, one-up adaptive procedure. The test was implemented by telephone, and administered to listeners with varying levels of hearing impairment. The listeners were then evaluated with pure-tone tests and other audiometric measures as clinically appropriate. Study Sample: Ninety participants included 72 who were volunteers from the regular client population at the Indiana University Hearing Clinic, and 18 who were recruited with a newspaper ad offering a free hearing test. Of the 90 participants, 49 were later determined to have mean pure-tone thresholds greater than 20 dB hearing level (HL). Data Collection and Analysis: The primary data analyses were correlations between telephone test thresholds and other measures, including pure-tone thresholds and speech recognition tests, collected for the same participants. Results: The correlation between the telephone test and pure-tone thresholds (r = 0.74) was within the range of correlations observed with successful telephone screening tests in use in other countries. Thresholds based on the average of only 21 trials (trials five through 25 of the 40-trial tracking history) yielded sensitivity and specificity values of 0.80 and 0.83, respectively, using pure-tone average(0.5, 1.0, 2.0 kHz) >20 dB HL as the criterion measure. Conclusions: This US version of the digits-in-noise telephone screening test is sufficiently valid to be implemented for use by the general public. Its properties are quite similar to those telephone screening tests currently in use in most European countries. Telephone tests provide efficient, easy to use, and valid screening for functional hearing impairment. The results of this test are a reasonable basis for advising those who fail to seek a comprehensive hearing evaluation by an audiologist.


2003 ◽  
Vol 1 (1) ◽  
pp. 29-32 ◽  
Author(s):  
MARKUS HF PFISTER ◽  
ANIL K LALWANI

1999 ◽  
Vol 64 (1) ◽  
pp. 318-323 ◽  
Author(s):  
Anil K. Lalwani ◽  
William M. Luxford ◽  
Anand N. Mhatre ◽  
Ali Attaie ◽  
Edward R. Wilcox ◽  
...  

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