Effects of a Tablet-Based Home Practice Program With Telepractice on Treatment Outcomes in Chronic Aphasia

Purpose

The aim of this study was to determine if a tablet-based home practice program with weekly telepractice support could enable long-term maintenance of recent treatment gains and foster new language gains in poststroke aphasia.

Method

In a pre–post group study of home practice outcomes, 21 individuals with chronic aphasia were examined before and after a 6-month home practice phase and again at follow-up 4 months later. The main outcome measure studied was change in naming previously treated or untreated, practiced or unpracticed pictures of objects and actions. Individualized home practice programs were created in iBooks Author with semantic, phonemic, and orthographic cueing in pictures, words, and videos in order to facilitate naming of previously treated or untreated pictures.

Results

Home practice was effective for all participants with severity moderating treatment effects, such that individuals with the most severe aphasia made and maintained fewer gains. There was a negative relationship between the amount of training required for iPad proficiency and improvements on practiced and unpracticed pictures and a positive relationship between practice compliance and same improvements.

Conclusion

Unsupervised home practice with weekly video teleconferencing support is effective. This study demonstrates that even individuals with chronic severe aphasia, including those with no prior smart device or even computer experience, can attain independent proficiency to continue practicing and improving their language skills beyond therapy discharge. This could represent a low-cost therapy option for individuals without insurance coverage and/or those for whom mobility is an obstacle to obtaining traditional aphasia therapy.

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Effects of a Tablet-Based Home Practice Program With Telepractice on Treatment Outcomes in Chronic Aphasia

Purpose

The aim of this study was to determine if a tablet-based home practice program with weekly telepractice support could enable long-term maintenance of recent treatment gains and foster new language gains in poststroke aphasia.

Method

In a pre–post group study of home practice outcomes, 21 individuals with chronic aphasia were examined before and after a 6-month home practice phase and again at follow-up 4 months later. The main outcome measure studied was change in naming previously treated or untreated, practiced or unpracticed pictures of objects and actions. Individualized home practice programs were created in iBooks Author with semantic, phonemic, and orthographic cueing in pictures, words, and videos in order to facilitate naming of previously treated or untreated pictures.

Results

Home practice was effective for all participants with severity moderating treatment effects, such that individuals with the most severe aphasia made and maintained fewer gains. There was a negative relationship between the amount of training required for iPad proficiency and improvements on practiced and unpracticed pictures and a positive relationship between practice compliance and same improvements.

Conclusion

Unsupervised home practice with weekly video teleconferencing support is effective. This study demonstrates that even individuals with chronic severe aphasia, including those with no prior smart device or even computer experience, can attain independent proficiency to continue practicing and improving their language skills beyond therapy discharge. This could represent a low-cost therapy option for individuals without insurance coverage and/or those for whom mobility is an obstacle to obtaining traditional aphasia therapy.

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Effects of a Tablet-Based Home Practice Program With Telepractice on Treatment Outcomes in Chronic Aphasia

Purpose

The aim of this study was to determine if a tablet-based home practice program with weekly telepractice support could enable long-term maintenance of recent treatment gains and foster new language gains in poststroke aphasia.

Method

In a pre–post group study of home practice outcomes, 21 individuals with chronic aphasia were examined before and after a 6-month home practice phase and again at follow-up 4 months later. The main outcome measure studied was change in naming previously treated or untreated, practiced or unpracticed pictures of objects and actions. Individualized home practice programs were created in iBooks Author with semantic, phonemic, and orthographic cueing in pictures, words, and videos in order to facilitate naming of previously treated or untreated pictures.

Results

Home practice was effective for all participants with severity moderating treatment effects, such that individuals with the most severe aphasia made and maintained fewer gains. There was a negative relationship between the amount of training required for iPad proficiency and improvements on practiced and unpracticed pictures and a positive relationship between practice compliance and same improvements.

Conclusion

Unsupervised home practice with weekly video teleconferencing support is effective. This study demonstrates that even individuals with chronic severe aphasia, including those with no prior smart device or even computer experience, can attain independent proficiency to continue practicing and improving their language skills beyond therapy discharge. This could represent a low-cost therapy option for individuals without insurance coverage and/or those for whom mobility is an obstacle to obtaining traditional aphasia therapy.

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How to Optimally Fit a Hearing Aid for Bimodal Cochlear Implant Users: A Systematic Review

Objectives: Bimodal hearing has shown to improve speech recognition in quiet and in noise and to improve sound localization compared with unilateral cochlear implant (CI) use alone. Fitting the CI and hearing aid (HA) separately has been described well, but HA fitting procedures for bimodal CI users are not well researched or widely accepted. The aim of the present study was to systematically review the literature on the effect of different HA fitting strategies on auditory performance in bimodal CI users. Design: Original articles, written in English, were identified through systematic searches in Medline (OvidSP), Embase, Web of Science, Scopus, CINAHL, Cochrane, PubMed publisher, and Google Scholar. The quality of the studies was assessed on five aspects: methodologic quality (with the methodological index for nonrandomized studies score), number of subjects, quality of the description of contralateral hearing loss, quality of HA verification, and direct comparison of HA fitting procedures based on auditory performance. Results: A total of 1665 records were retrieved, of which 17 were included for systematical reviews. Critical appraisal led to three high-quality studies, 10 medium-quality studies, and four low-quality studies. The results of the studies were structured according to four topics: frequency response, frequency translation/transposition, dynamic range compression, and loudness. In general, a bimodal benefit was found in most studies, using various strategies for the HA fitting. Using a standard prescription rule such as National Acoustics Laboratory formula-non-linear 1, National Acoustics Laboratory formula-non-linear 2, or desired sensation level is a good starting point in children and adults. Conclusions: Although a bimodal benefit was found in most studies, there is no clear evidence how certain choices in HA fitting contribute to optimal bimodal performance. A generally accepted HA prescription rule is an essential part of most fitting procedures used in the studies. Current evidence suggests that frequency lowering or transposition is not beneficial. Individual fine tuning based on loudness or general preference is often applied, but its additional value for auditory performance should be investigated more thoroughly. Good quality comparative studies are needed to further develop evidence-based fitting procedures in case of bimodal listening. Received August 26, 2017; accepted February 6, 2018. ACKNOWLEDGMENTS: We thank Wichor Bramer, Biomedical Information Specialist, Medical Library, for his help by setting up our search strategy. The authors have no conflicts of interest to disclose. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Jantien L. Vroegop, ENT Department, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands. E-mail: j.l.vroegop@erasmusmc.nl Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds

Objectives: Auditory neuropathy (AN) is a clinical disorder characterized by the absence of auditory brainstem response and presence of otoacoustic emissions. A gradual loss of otoacoustic emissions has been reported for some cases of AN. Such cases could be diagnosed as cochlear hearing loss and lead to misunderstanding of the pathology when patients first visit clinics after the loss of otoacoustic emissions. The purpose of this study was to investigate the time course of changes in distortion product otoacoustic emissions (DPOAEs) in association with patients’ genetic and clinical backgrounds, including the use of hearing aids. Design: DPOAE measurements from 31 patients with AN were assessed. Genetic analyses for GJB2, OTOF, and mitochondrial m.1555A> G and m.3243A> G mutations were conducted for all cases, and the analyses for CDH23 and OPA1 were conducted for the selected cases. Patients who were younger than 10 years of age at the time of AN diagnosis were designated as the pediatric AN group (22 cases), and those who were 18 years of age or older were designated as the adult AN group (9 cases). DPOAE was measured at least twice in all patients. The response rate for DPOAEs was defined and analyzed. Results: The pediatric AN group comprised 10 patients with OTOF mutations, 1 with GJB2 mutations, 1 with OPA1 mutation, and 10 with indefinite causes. Twelve ears (27%) showed no change in DPOAE, 20 ears (46%) showed a decrease in DPOAE, and 12 ears (27%) lost DPOAE. Loss of DPOAE occurred in one ear (2%) at 0 years of age and four ears (9%) at 1 year of age. The time courses of DPOAEs in patients with OTOF mutations were divided into those with early loss and those with no change, indicating that the mechanism for deterioration of DPOAEs includes not only the OTOF mutations but also other common modifier factors. Most, but not all, AN patients who used hearing aids showed deterioration of DPOAEs after the start of using hearing aids. A few AN patients also showed deterioration of DPOAEs before using hearing aids. The adult AN group comprised 2 patients with OPA1 mutations, 2 with OTOF mutations, and 5 with indefinite causes. Four ears (22%) showed no change in DPOAE, 13 ears (72%) showed a decrease, and one ear (6%) showed a loss of DPOAE. Although the ratio of DPOAE decrease was higher in the adult AN group than in the pediatric AN group, the ratio of DPOAE loss was lower in the adult AN group. DPOAE was not lost in all four ears with OPA1 mutations and in all four ears with OTOF mutations in the adult group. Conclusions: DPOAE was decreased or lost in approximately 70% of pediatric and about 80% of adult AN patients. Eleven percent of pediatric AN patients lost DPOAEs by 1 year of age. Genetic factors were thought to have influenced the time course of DPOAEs in the pediatric AN group. In most adult AN patients, DPOAE was rarely lost regardless of the genetic cause. K. Kitao designed the study, performed the experiments, analyzed the data, and drafted the article. H.M. and K.N. performed genetic analysis and drafted the article. N. Morimoto, A.N., Y.A., T. Sugiuchi, S.M., Y.O., N. Morita, H.S., T. Shintani, S.F., and K. Kaga contributed to the gathering and interpretation of clinical data. T.M. conceived and designed the study, participated in its coordination, and drafted and finalized the article. All authors read and approved the final article. This work was supported by a Grant-in-Aid for Clinical Research from the National Hospital Organization [H27-NHO (Kankaku)-02]. The authors have no conflicts of interest to declare. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Tatsuo Matsunaga, Division of Hearing and Balance Research, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguro, Tokyo 8902, Japan. E-mail: matsunagatatsuo@kankakuki.go.jp Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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How to Optimally Fit a Hearing Aid for Bimodal Cochlear Implant Users: A Systematic Review

Objectives: Bimodal hearing has shown to improve speech recognition in quiet and in noise and to improve sound localization compared with unilateral cochlear implant (CI) use alone. Fitting the CI and hearing aid (HA) separately has been described well, but HA fitting procedures for bimodal CI users are not well researched or widely accepted. The aim of the present study was to systematically review the literature on the effect of different HA fitting strategies on auditory performance in bimodal CI users. Design: Original articles, written in English, were identified through systematic searches in Medline (OvidSP), Embase, Web of Science, Scopus, CINAHL, Cochrane, PubMed publisher, and Google Scholar. The quality of the studies was assessed on five aspects: methodologic quality (with the methodological index for nonrandomized studies score), number of subjects, quality of the description of contralateral hearing loss, quality of HA verification, and direct comparison of HA fitting procedures based on auditory performance. Results: A total of 1665 records were retrieved, of which 17 were included for systematical reviews. Critical appraisal led to three high-quality studies, 10 medium-quality studies, and four low-quality studies. The results of the studies were structured according to four topics: frequency response, frequency translation/transposition, dynamic range compression, and loudness. In general, a bimodal benefit was found in most studies, using various strategies for the HA fitting. Using a standard prescription rule such as National Acoustics Laboratory formula-non-linear 1, National Acoustics Laboratory formula-non-linear 2, or desired sensation level is a good starting point in children and adults. Conclusions: Although a bimodal benefit was found in most studies, there is no clear evidence how certain choices in HA fitting contribute to optimal bimodal performance. A generally accepted HA prescription rule is an essential part of most fitting procedures used in the studies. Current evidence suggests that frequency lowering or transposition is not beneficial. Individual fine tuning based on loudness or general preference is often applied, but its additional value for auditory performance should be investigated more thoroughly. Good quality comparative studies are needed to further develop evidence-based fitting procedures in case of bimodal listening. Received August 26, 2017; accepted February 6, 2018. ACKNOWLEDGMENTS: We thank Wichor Bramer, Biomedical Information Specialist, Medical Library, for his help by setting up our search strategy. The authors have no conflicts of interest to disclose. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Jantien L. Vroegop, ENT Department, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands. E-mail: j.l.vroegop@erasmusmc.nl Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds

Objectives: Auditory neuropathy (AN) is a clinical disorder characterized by the absence of auditory brainstem response and presence of otoacoustic emissions. A gradual loss of otoacoustic emissions has been reported for some cases of AN. Such cases could be diagnosed as cochlear hearing loss and lead to misunderstanding of the pathology when patients first visit clinics after the loss of otoacoustic emissions. The purpose of this study was to investigate the time course of changes in distortion product otoacoustic emissions (DPOAEs) in association with patients’ genetic and clinical backgrounds, including the use of hearing aids. Design: DPOAE measurements from 31 patients with AN were assessed. Genetic analyses for GJB2, OTOF, and mitochondrial m.1555A> G and m.3243A> G mutations were conducted for all cases, and the analyses for CDH23 and OPA1 were conducted for the selected cases. Patients who were younger than 10 years of age at the time of AN diagnosis were designated as the pediatric AN group (22 cases), and those who were 18 years of age or older were designated as the adult AN group (9 cases). DPOAE was measured at least twice in all patients. The response rate for DPOAEs was defined and analyzed. Results: The pediatric AN group comprised 10 patients with OTOF mutations, 1 with GJB2 mutations, 1 with OPA1 mutation, and 10 with indefinite causes. Twelve ears (27%) showed no change in DPOAE, 20 ears (46%) showed a decrease in DPOAE, and 12 ears (27%) lost DPOAE. Loss of DPOAE occurred in one ear (2%) at 0 years of age and four ears (9%) at 1 year of age. The time courses of DPOAEs in patients with OTOF mutations were divided into those with early loss and those with no change, indicating that the mechanism for deterioration of DPOAEs includes not only the OTOF mutations but also other common modifier factors. Most, but not all, AN patients who used hearing aids showed deterioration of DPOAEs after the start of using hearing aids. A few AN patients also showed deterioration of DPOAEs before using hearing aids. The adult AN group comprised 2 patients with OPA1 mutations, 2 with OTOF mutations, and 5 with indefinite causes. Four ears (22%) showed no change in DPOAE, 13 ears (72%) showed a decrease, and one ear (6%) showed a loss of DPOAE. Although the ratio of DPOAE decrease was higher in the adult AN group than in the pediatric AN group, the ratio of DPOAE loss was lower in the adult AN group. DPOAE was not lost in all four ears with OPA1 mutations and in all four ears with OTOF mutations in the adult group. Conclusions: DPOAE was decreased or lost in approximately 70% of pediatric and about 80% of adult AN patients. Eleven percent of pediatric AN patients lost DPOAEs by 1 year of age. Genetic factors were thought to have influenced the time course of DPOAEs in the pediatric AN group. In most adult AN patients, DPOAE was rarely lost regardless of the genetic cause. K. Kitao designed the study, performed the experiments, analyzed the data, and drafted the article. H.M. and K.N. performed genetic analysis and drafted the article. N. Morimoto, A.N., Y.A., T. Sugiuchi, S.M., Y.O., N. Morita, H.S., T. Shintani, S.F., and K. Kaga contributed to the gathering and interpretation of clinical data. T.M. conceived and designed the study, participated in its coordination, and drafted and finalized the article. All authors read and approved the final article. This work was supported by a Grant-in-Aid for Clinical Research from the National Hospital Organization [H27-NHO (Kankaku)-02]. The authors have no conflicts of interest to declare. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Tatsuo Matsunaga, Division of Hearing and Balance Research, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguro, Tokyo 8902, Japan. E-mail: matsunagatatsuo@kankakuki.go.jp Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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How to Optimally Fit a Hearing Aid for Bimodal Cochlear Implant Users: A Systematic Review

Objectives: Bimodal hearing has shown to improve speech recognition in quiet and in noise and to improve sound localization compared with unilateral cochlear implant (CI) use alone. Fitting the CI and hearing aid (HA) separately has been described well, but HA fitting procedures for bimodal CI users are not well researched or widely accepted. The aim of the present study was to systematically review the literature on the effect of different HA fitting strategies on auditory performance in bimodal CI users. Design: Original articles, written in English, were identified through systematic searches in Medline (OvidSP), Embase, Web of Science, Scopus, CINAHL, Cochrane, PubMed publisher, and Google Scholar. The quality of the studies was assessed on five aspects: methodologic quality (with the methodological index for nonrandomized studies score), number of subjects, quality of the description of contralateral hearing loss, quality of HA verification, and direct comparison of HA fitting procedures based on auditory performance. Results: A total of 1665 records were retrieved, of which 17 were included for systematical reviews. Critical appraisal led to three high-quality studies, 10 medium-quality studies, and four low-quality studies. The results of the studies were structured according to four topics: frequency response, frequency translation/transposition, dynamic range compression, and loudness. In general, a bimodal benefit was found in most studies, using various strategies for the HA fitting. Using a standard prescription rule such as National Acoustics Laboratory formula-non-linear 1, National Acoustics Laboratory formula-non-linear 2, or desired sensation level is a good starting point in children and adults. Conclusions: Although a bimodal benefit was found in most studies, there is no clear evidence how certain choices in HA fitting contribute to optimal bimodal performance. A generally accepted HA prescription rule is an essential part of most fitting procedures used in the studies. Current evidence suggests that frequency lowering or transposition is not beneficial. Individual fine tuning based on loudness or general preference is often applied, but its additional value for auditory performance should be investigated more thoroughly. Good quality comparative studies are needed to further develop evidence-based fitting procedures in case of bimodal listening. Received August 26, 2017; accepted February 6, 2018. ACKNOWLEDGMENTS: We thank Wichor Bramer, Biomedical Information Specialist, Medical Library, for his help by setting up our search strategy. The authors have no conflicts of interest to disclose. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Jantien L. Vroegop, ENT Department, Erasmus Medical Center, Postbus 2040, 3000 CA Rotterdam, The Netherlands. E-mail: j.l.vroegop@erasmusmc.nl Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds

Objectives: Auditory neuropathy (AN) is a clinical disorder characterized by the absence of auditory brainstem response and presence of otoacoustic emissions. A gradual loss of otoacoustic emissions has been reported for some cases of AN. Such cases could be diagnosed as cochlear hearing loss and lead to misunderstanding of the pathology when patients first visit clinics after the loss of otoacoustic emissions. The purpose of this study was to investigate the time course of changes in distortion product otoacoustic emissions (DPOAEs) in association with patients’ genetic and clinical backgrounds, including the use of hearing aids. Design: DPOAE measurements from 31 patients with AN were assessed. Genetic analyses for GJB2, OTOF, and mitochondrial m.1555A> G and m.3243A> G mutations were conducted for all cases, and the analyses for CDH23 and OPA1 were conducted for the selected cases. Patients who were younger than 10 years of age at the time of AN diagnosis were designated as the pediatric AN group (22 cases), and those who were 18 years of age or older were designated as the adult AN group (9 cases). DPOAE was measured at least twice in all patients. The response rate for DPOAEs was defined and analyzed. Results: The pediatric AN group comprised 10 patients with OTOF mutations, 1 with GJB2 mutations, 1 with OPA1 mutation, and 10 with indefinite causes. Twelve ears (27%) showed no change in DPOAE, 20 ears (46%) showed a decrease in DPOAE, and 12 ears (27%) lost DPOAE. Loss of DPOAE occurred in one ear (2%) at 0 years of age and four ears (9%) at 1 year of age. The time courses of DPOAEs in patients with OTOF mutations were divided into those with early loss and those with no change, indicating that the mechanism for deterioration of DPOAEs includes not only the OTOF mutations but also other common modifier factors. Most, but not all, AN patients who used hearing aids showed deterioration of DPOAEs after the start of using hearing aids. A few AN patients also showed deterioration of DPOAEs before using hearing aids. The adult AN group comprised 2 patients with OPA1 mutations, 2 with OTOF mutations, and 5 with indefinite causes. Four ears (22%) showed no change in DPOAE, 13 ears (72%) showed a decrease, and one ear (6%) showed a loss of DPOAE. Although the ratio of DPOAE decrease was higher in the adult AN group than in the pediatric AN group, the ratio of DPOAE loss was lower in the adult AN group. DPOAE was not lost in all four ears with OPA1 mutations and in all four ears with OTOF mutations in the adult group. Conclusions: DPOAE was decreased or lost in approximately 70% of pediatric and about 80% of adult AN patients. Eleven percent of pediatric AN patients lost DPOAEs by 1 year of age. Genetic factors were thought to have influenced the time course of DPOAEs in the pediatric AN group. In most adult AN patients, DPOAE was rarely lost regardless of the genetic cause. K. Kitao designed the study, performed the experiments, analyzed the data, and drafted the article. H.M. and K.N. performed genetic analysis and drafted the article. N. Morimoto, A.N., Y.A., T. Sugiuchi, S.M., Y.O., N. Morita, H.S., T. Shintani, S.F., and K. Kaga contributed to the gathering and interpretation of clinical data. T.M. conceived and designed the study, participated in its coordination, and drafted and finalized the article. All authors read and approved the final article. This work was supported by a Grant-in-Aid for Clinical Research from the National Hospital Organization [H27-NHO (Kankaku)-02]. The authors have no conflicts of interest to declare. Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and text of this article on the journal’s Web site (www.ear-hearing.com). Address for correspondence: Tatsuo Matsunaga, Division of Hearing and Balance Research, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguro, Tokyo 8902, Japan. E-mail: matsunagatatsuo@kankakuki.go.jp Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.

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Clinical experience with multigene carrier panels in the reproductive setting.

Clinical experience with multigene carrier panels in the reproductive setting.

Prenat Diagn. 2018 Apr 23;:

Authors: Terhaar C, Teed N, Allen R, Dohany L, Settler C, Holland C, Longman RE

Abstract
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders.
METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases). All panels utilized targeted genotype analysis of pre-selected mutations via next-generation sequencing (NGS). We calculated positivity rates for each panel.
RESULTS: Positivity rates were 7.2% for PreparentTM Trio, 13.2% for PreparentTM Standard, and 35.8% for PreparentTM Global. The most frequent positive results in the Global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and non-syndromic hearing loss.
CONCLUSIONS: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.

PMID: 29683194 [PubMed - as supplied by publisher]

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Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Related Articles

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Am J Med Genet A. 2018 May;176(5):1200-1206

Authors: Patil SJ, Das Bhowmik A, Bhat V, Satidevi Vineeth V, Vasudevamurthy R, Dalal A

Abstract
Otofaciocervical syndrome (OTFCS) is described as a single gene disorder of both autosomal dominant and autosomal recessive inheritance. The major clinical features of OTFCS include ear malformations (external/middle/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in PAX1 gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in PAX1 as the underlying genetic cause.

PMID: 29681087 [PubMed - in process]

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Talking to Toddlers: Drawing on Mothers' Perceptions of Using Wearable and Mobile Technology in the Home.

Related Articles

Talking to Toddlers: Drawing on Mothers' Perceptions of Using Wearable and Mobile Technology in the Home.

Stud Health Technol Inform. 2017;239:21-27

Authors: Choo D, Dettman S, Dowell R, Cowan R

Abstract
BACKGROUND: Mother-child interactions often give rise to opportunities for early language learning in the context of everyday life. Persuasive technology has the potential to influence maternal language behaviours in the home and promote mothers' active engagement in the development of their children's communication skills.
AIM: This paper explored maternal perceptions regarding the use of a language tracking wearable (Language Environment Analysis; LENA) device and a parent education smartphone application in an 8-week trial with their young children.
METHODS: Mother/child dyads were enrolled in a feasibility trial designed to obtain objective auditory and linguistic data from each child's naturalistic settings (Control Condition), provide feedback to mothers about their child's home language environment (LENA Feedback Condition), and to explore effectiveness of an app designed to promote meaningful parent/child interactions during daily routines (LENA Feedback and App Condition).
RESULTS AND DISCUSSION: The majority of mothers (80%) who participated in the trial reported a preference for using the mobile app and/or LENA technology again. Maternal responses during this pilot informed the design of an ongoing, prospective language intervention study for parents and their young children with significant hearing loss.

PMID: 28756432 [PubMed - indexed for MEDLINE]

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