Πέμπτη 19 Ιανουαρίου 2017

Assessment With Children Who Need Augmentative and Alternative Communication (AAC): Clinical Decisions of AAC Specialists

Purpose
The purpose of this study was to explore how speech-language pathologists (SLPs) who are augmentative and alternative communication (AAC) specialists approach the assessment process for 2 case studies, 1 child with cerebral palsy and 1 with autism spectrum disorder. The aim of the study was to answer the following questions: (a) How do clinicians with expertise approach the AAC assessment process for children with developmental disabilities? (b) Can any initial hypothesis be drawn about how SLPs approach the assessment of children with motor versus social interactive deficits?
Method
This study used a phenomenological qualitative design. The researchers conducted 2 in-depth, semistructured interviews with 8 SLPs who specialized in AAC and self-identified as primarily working with children.
Results
Four major themes emerged from the data: area of assessment, method of assessment, evaluation preparation, and parent education. Each major theme contained multiple subthemes and categories within those subthemes.
Conclusions
Participants discussed similar areas of assessment for both cases, indicating that some aspects of AAC assessment are universal. However, the specific aspects of what they were assessing and how they went about assessing them differed between the 2 cases. The results of the current study provide an outline of an assessment protocol for children with complex communication needs.

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Assessment With Children Who Need Augmentative and Alternative Communication (AAC): Clinical Decisions of AAC Specialists

Purpose
The purpose of this study was to explore how speech-language pathologists (SLPs) who are augmentative and alternative communication (AAC) specialists approach the assessment process for 2 case studies, 1 child with cerebral palsy and 1 with autism spectrum disorder. The aim of the study was to answer the following questions: (a) How do clinicians with expertise approach the AAC assessment process for children with developmental disabilities? (b) Can any initial hypothesis be drawn about how SLPs approach the assessment of children with motor versus social interactive deficits?
Method
This study used a phenomenological qualitative design. The researchers conducted 2 in-depth, semistructured interviews with 8 SLPs who specialized in AAC and self-identified as primarily working with children.
Results
Four major themes emerged from the data: area of assessment, method of assessment, evaluation preparation, and parent education. Each major theme contained multiple subthemes and categories within those subthemes.
Conclusions
Participants discussed similar areas of assessment for both cases, indicating that some aspects of AAC assessment are universal. However, the specific aspects of what they were assessing and how they went about assessing them differed between the 2 cases. The results of the current study provide an outline of an assessment protocol for children with complex communication needs.

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Assessment With Children Who Need Augmentative and Alternative Communication (AAC): Clinical Decisions of AAC Specialists

Purpose
The purpose of this study was to explore how speech-language pathologists (SLPs) who are augmentative and alternative communication (AAC) specialists approach the assessment process for 2 case studies, 1 child with cerebral palsy and 1 with autism spectrum disorder. The aim of the study was to answer the following questions: (a) How do clinicians with expertise approach the AAC assessment process for children with developmental disabilities? (b) Can any initial hypothesis be drawn about how SLPs approach the assessment of children with motor versus social interactive deficits?
Method
This study used a phenomenological qualitative design. The researchers conducted 2 in-depth, semistructured interviews with 8 SLPs who specialized in AAC and self-identified as primarily working with children.
Results
Four major themes emerged from the data: area of assessment, method of assessment, evaluation preparation, and parent education. Each major theme contained multiple subthemes and categories within those subthemes.
Conclusions
Participants discussed similar areas of assessment for both cases, indicating that some aspects of AAC assessment are universal. However, the specific aspects of what they were assessing and how they went about assessing them differed between the 2 cases. The results of the current study provide an outline of an assessment protocol for children with complex communication needs.

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Digital Playground: Consumer Electronics Show

The 50th Consumer Electronics Show (CES) was held in Las Vegas on January 5–8, 2017. As usual, it was a veritable digital playground for technophiles.



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Distinguished Lecture Series, February 10, 2017, with Robert T. Knight, M.D.

Dr. Robert T. Knight

Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.”  Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.

 

 

 



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Distinguished Lecture Series, February 10, 2017, with Robert T. Knight, M.D.

Dr. Robert T. Knight

Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.”  Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.

 

 

 



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Distinguished Lecture Series, February 10, 2017, with Robert T. Knight, M.D.

Dr. Robert T. Knight

Join the Center for Clinical and Cognitive Neuroscience on Friday, February 10th in welcoming Robert T. Knight, M.D. for a distinguished lecture, “ Frontal Cortex and Human Behavior: Insights from Intracranial Recording.”  Lecture 1:00-2:30pm, Conrad Prebys Aztec Student Union Theatre followed by a light reception.

 

 

 



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A Near-Infrared Spectroscopy Study on Cortical Hemodynamic Responses to Normal and Whispered Speech in 3- to 7-Year-Old Children

Purpose
The purpose of this study was to assess cortical hemodynamic response patterns in 3- to 7-year-old children listening to two speech modes: normally vocalized and whispered speech. Understanding whispered speech requires processing of the relatively weak, noisy signal, as well as the cognitive ability to understand the speaker's reason for whispering.
Method
Near-infrared spectroscopy (NIRS) was used to assess changes in cortical oxygenated hemoglobin from 16 typically developing children.
Results
A profound difference in oxygenated hemoglobin levels between the speech modes was found over left ventral sensorimotor cortex. In particular, over areas that represent speech articulatory body parts and motion, such as the larynx, lips, and jaw, oxygenated hemoglobin was higher for whisper than for normal speech. The weaker stimulus, in terms of sound energy, thus induced the more profound hemodynamic response. This, moreover, occurred over areas involved in speech articulation, even though the children did not overtly articulate speech during measurements.
Conclusion
Because whisper is a special form of communication not often used in daily life, we suggest that the hemodynamic response difference over left ventral sensorimotor cortex resulted from inner (covert) practice or imagination of the different articulatory actions necessary to produce whisper as opposed to normal speech.

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Auditory Stimulus Processing and Task Learning Are Adequate in Dyslexia, but Benefits From Regularities Are Reduced

Purpose
The reading deficit for people with dyslexia is typically associated with linguistic, memory, and perceptual-discrimination difficulties, whose relation to reading impairment is disputed. We proposed that automatic detection and usage of serial sound regularities for individuals with dyslexia is impaired (anchoring deficit hypothesis), leading to the formation of less reliable sound predictions. Agus, Carrión-Castillo, Pressnitzer, and Ramus, (2014) reported seemingly contradictory evidence by showing similar performance by participants with and without dyslexia in a demanding auditory task that contained task-relevant regularities. To carefully assess the sensitivity of participants with dyslexia to regularities of this task, we replicated their study.
Method
Thirty participants with and 24 without dyslexia performed the replicated task. On each trial, a 1-s noise stimulus was presented. Participants had to decide whether the stimulus contained repetitions (was constructed from a 0.5-s noise segment repeated twice) or not. It is implicit in this structure that some of the stimuli with repetitions were themselves repeated across trials. We measured the ability to detect within-noise repetitions and the sensitivity to cross-trial repetitions of the same noise stimuli.
Results
We replicated the finding of similar mean performance. However, individuals with dyslexia were less sensitive to the cross-trial repetition of noise stimuli and tended to be more sensitive to repetitions in novel noise stimuli.
Conclusion
These findings indicate that online auditory processing for individuals with dyslexia is adequate but their implicit retention and usage of sound regularities is indeed impaired.

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A Near-Infrared Spectroscopy Study on Cortical Hemodynamic Responses to Normal and Whispered Speech in 3- to 7-Year-Old Children

Purpose
The purpose of this study was to assess cortical hemodynamic response patterns in 3- to 7-year-old children listening to two speech modes: normally vocalized and whispered speech. Understanding whispered speech requires processing of the relatively weak, noisy signal, as well as the cognitive ability to understand the speaker's reason for whispering.
Method
Near-infrared spectroscopy (NIRS) was used to assess changes in cortical oxygenated hemoglobin from 16 typically developing children.
Results
A profound difference in oxygenated hemoglobin levels between the speech modes was found over left ventral sensorimotor cortex. In particular, over areas that represent speech articulatory body parts and motion, such as the larynx, lips, and jaw, oxygenated hemoglobin was higher for whisper than for normal speech. The weaker stimulus, in terms of sound energy, thus induced the more profound hemodynamic response. This, moreover, occurred over areas involved in speech articulation, even though the children did not overtly articulate speech during measurements.
Conclusion
Because whisper is a special form of communication not often used in daily life, we suggest that the hemodynamic response difference over left ventral sensorimotor cortex resulted from inner (covert) practice or imagination of the different articulatory actions necessary to produce whisper as opposed to normal speech.

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Auditory Stimulus Processing and Task Learning Are Adequate in Dyslexia, but Benefits From Regularities Are Reduced

Purpose
The reading deficit for people with dyslexia is typically associated with linguistic, memory, and perceptual-discrimination difficulties, whose relation to reading impairment is disputed. We proposed that automatic detection and usage of serial sound regularities for individuals with dyslexia is impaired (anchoring deficit hypothesis), leading to the formation of less reliable sound predictions. Agus, Carrión-Castillo, Pressnitzer, and Ramus, (2014) reported seemingly contradictory evidence by showing similar performance by participants with and without dyslexia in a demanding auditory task that contained task-relevant regularities. To carefully assess the sensitivity of participants with dyslexia to regularities of this task, we replicated their study.
Method
Thirty participants with and 24 without dyslexia performed the replicated task. On each trial, a 1-s noise stimulus was presented. Participants had to decide whether the stimulus contained repetitions (was constructed from a 0.5-s noise segment repeated twice) or not. It is implicit in this structure that some of the stimuli with repetitions were themselves repeated across trials. We measured the ability to detect within-noise repetitions and the sensitivity to cross-trial repetitions of the same noise stimuli.
Results
We replicated the finding of similar mean performance. However, individuals with dyslexia were less sensitive to the cross-trial repetition of noise stimuli and tended to be more sensitive to repetitions in novel noise stimuli.
Conclusion
These findings indicate that online auditory processing for individuals with dyslexia is adequate but their implicit retention and usage of sound regularities is indeed impaired.

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A Near-Infrared Spectroscopy Study on Cortical Hemodynamic Responses to Normal and Whispered Speech in 3- to 7-Year-Old Children

Purpose
The purpose of this study was to assess cortical hemodynamic response patterns in 3- to 7-year-old children listening to two speech modes: normally vocalized and whispered speech. Understanding whispered speech requires processing of the relatively weak, noisy signal, as well as the cognitive ability to understand the speaker's reason for whispering.
Method
Near-infrared spectroscopy (NIRS) was used to assess changes in cortical oxygenated hemoglobin from 16 typically developing children.
Results
A profound difference in oxygenated hemoglobin levels between the speech modes was found over left ventral sensorimotor cortex. In particular, over areas that represent speech articulatory body parts and motion, such as the larynx, lips, and jaw, oxygenated hemoglobin was higher for whisper than for normal speech. The weaker stimulus, in terms of sound energy, thus induced the more profound hemodynamic response. This, moreover, occurred over areas involved in speech articulation, even though the children did not overtly articulate speech during measurements.
Conclusion
Because whisper is a special form of communication not often used in daily life, we suggest that the hemodynamic response difference over left ventral sensorimotor cortex resulted from inner (covert) practice or imagination of the different articulatory actions necessary to produce whisper as opposed to normal speech.

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Auditory Stimulus Processing and Task Learning Are Adequate in Dyslexia, but Benefits From Regularities Are Reduced

Purpose
The reading deficit for people with dyslexia is typically associated with linguistic, memory, and perceptual-discrimination difficulties, whose relation to reading impairment is disputed. We proposed that automatic detection and usage of serial sound regularities for individuals with dyslexia is impaired (anchoring deficit hypothesis), leading to the formation of less reliable sound predictions. Agus, Carrión-Castillo, Pressnitzer, and Ramus, (2014) reported seemingly contradictory evidence by showing similar performance by participants with and without dyslexia in a demanding auditory task that contained task-relevant regularities. To carefully assess the sensitivity of participants with dyslexia to regularities of this task, we replicated their study.
Method
Thirty participants with and 24 without dyslexia performed the replicated task. On each trial, a 1-s noise stimulus was presented. Participants had to decide whether the stimulus contained repetitions (was constructed from a 0.5-s noise segment repeated twice) or not. It is implicit in this structure that some of the stimuli with repetitions were themselves repeated across trials. We measured the ability to detect within-noise repetitions and the sensitivity to cross-trial repetitions of the same noise stimuli.
Results
We replicated the finding of similar mean performance. However, individuals with dyslexia were less sensitive to the cross-trial repetition of noise stimuli and tended to be more sensitive to repetitions in novel noise stimuli.
Conclusion
These findings indicate that online auditory processing for individuals with dyslexia is adequate but their implicit retention and usage of sound regularities is indeed impaired.

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Informational masking and the effects of differences in fundamental frequency and fundamental-frequency contour on phonetic integration in a formant ensemble

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Publication date: Available online 18 January 2017
Source:Hearing Research
Author(s): Robert J. Summers, Peter J. Bailey, Brian Roberts
This study explored the effects on speech intelligibility of across-formant differences in fundamental frequency (ΔF0) and F0 contour. Sentence-length speech analogues were presented dichotically (left = F1 + F3; right = F2), either alone or—because competition usually reveals grouping cues most clearly—accompanied in the left ear by a competitor for F2 (F2C) that listeners must reject to optimize recognition. F2C was created by inverting the F2 frequency contour. In experiment 1, all left-ear formants shared the same constant F0 and ΔF0F2 was 0 or ±4 semitones. In experiment 2, all left-ear formants shared the natural F0 contour and that for F2 was natural, constant, exaggerated, or inverted. Adding F2C lowered keyword scores, presumably because of informational masking. The results for experiment 1 were complicated by effects associated with the direction of ΔF0F2; this problem was avoided in experiment 2 because all four F0 contours had the same geometric mean frequency. When the target formants were presented alone, scores were relatively high and did not depend on the F0F2 contour. F2C impact was greater when F2 had a different F0 contour from the other formants. This effect was a direct consequence of the associated ΔF0; the F0F2 contour per se did not influence competitor impact.



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Informational masking and the effects of differences in fundamental frequency and fundamental-frequency contour on phonetic integration in a formant ensemble

alertIcon.gif

Publication date: Available online 18 January 2017
Source:Hearing Research
Author(s): Robert J. Summers, Peter J. Bailey, Brian Roberts
This study explored the effects on speech intelligibility of across-formant differences in fundamental frequency (ΔF0) and F0 contour. Sentence-length speech analogues were presented dichotically (left = F1 + F3; right = F2), either alone or—because competition usually reveals grouping cues most clearly—accompanied in the left ear by a competitor for F2 (F2C) that listeners must reject to optimize recognition. F2C was created by inverting the F2 frequency contour. In experiment 1, all left-ear formants shared the same constant F0 and ΔF0F2 was 0 or ±4 semitones. In experiment 2, all left-ear formants shared the natural F0 contour and that for F2 was natural, constant, exaggerated, or inverted. Adding F2C lowered keyword scores, presumably because of informational masking. The results for experiment 1 were complicated by effects associated with the direction of ΔF0F2; this problem was avoided in experiment 2 because all four F0 contours had the same geometric mean frequency. When the target formants were presented alone, scores were relatively high and did not depend on the F0F2 contour. F2C impact was greater when F2 had a different F0 contour from the other formants. This effect was a direct consequence of the associated ΔF0; the F0F2 contour per se did not influence competitor impact.



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Informational masking and the effects of differences in fundamental frequency and fundamental-frequency contour on phonetic integration in a formant ensemble

alertIcon.gif

Publication date: Available online 18 January 2017
Source:Hearing Research
Author(s): Robert J. Summers, Peter J. Bailey, Brian Roberts
This study explored the effects on speech intelligibility of across-formant differences in fundamental frequency (ΔF0) and F0 contour. Sentence-length speech analogues were presented dichotically (left = F1 + F3; right = F2), either alone or—because competition usually reveals grouping cues most clearly—accompanied in the left ear by a competitor for F2 (F2C) that listeners must reject to optimize recognition. F2C was created by inverting the F2 frequency contour. In experiment 1, all left-ear formants shared the same constant F0 and ΔF0F2 was 0 or ±4 semitones. In experiment 2, all left-ear formants shared the natural F0 contour and that for F2 was natural, constant, exaggerated, or inverted. Adding F2C lowered keyword scores, presumably because of informational masking. The results for experiment 1 were complicated by effects associated with the direction of ΔF0F2; this problem was avoided in experiment 2 because all four F0 contours had the same geometric mean frequency. When the target formants were presented alone, scores were relatively high and did not depend on the F0F2 contour. F2C impact was greater when F2 had a different F0 contour from the other formants. This effect was a direct consequence of the associated ΔF0; the F0F2 contour per se did not influence competitor impact.



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Informational masking and the effects of differences in fundamental frequency and fundamental-frequency contour on phonetic integration in a formant ensemble

Publication date: Available online 18 January 2017
Source:Hearing Research
Author(s): Robert J. Summers, Peter J. Bailey, Brian Roberts
This study explored the effects on speech intelligibility of across-formant differences in fundamental frequency (ΔF0) and F0 contour. Sentence-length speech analogues were presented dichotically (left = F1 + F3; right = F2), either alone or—because competition usually reveals grouping cues most clearly—accompanied in the left ear by a competitor for F2 (F2C) that listeners must reject to optimize recognition. F2C was created by inverting the F2 frequency contour. In experiment 1, all left-ear formants shared the same constant F0 and ΔF0F2 was 0 or ±4 semitones. In experiment 2, all left-ear formants shared the natural F0 contour and that for F2 was natural, constant, exaggerated, or inverted. Adding F2C lowered keyword scores, presumably because of informational masking. The results for experiment 1 were complicated by effects associated with the direction of ΔF0F2; this problem was avoided in experiment 2 because all four F0 contours had the same geometric mean frequency. When the target formants were presented alone, scores were relatively high and did not depend on the F0F2 contour. F2C impact was greater when F2 had a different F0 contour from the other formants. This effect was a direct consequence of the associated ΔF0; the F0F2 contour per se did not influence competitor impact.



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Informational masking and the effects of differences in fundamental frequency and fundamental-frequency contour on phonetic integration in a formant ensemble

Publication date: Available online 18 January 2017
Source:Hearing Research
Author(s): Robert J. Summers, Peter J. Bailey, Brian Roberts
This study explored the effects on speech intelligibility of across-formant differences in fundamental frequency (ΔF0) and F0 contour. Sentence-length speech analogues were presented dichotically (left = F1 + F3; right = F2), either alone or—because competition usually reveals grouping cues most clearly—accompanied in the left ear by a competitor for F2 (F2C) that listeners must reject to optimize recognition. F2C was created by inverting the F2 frequency contour. In experiment 1, all left-ear formants shared the same constant F0 and ΔF0F2 was 0 or ±4 semitones. In experiment 2, all left-ear formants shared the natural F0 contour and that for F2 was natural, constant, exaggerated, or inverted. Adding F2C lowered keyword scores, presumably because of informational masking. The results for experiment 1 were complicated by effects associated with the direction of ΔF0F2; this problem was avoided in experiment 2 because all four F0 contours had the same geometric mean frequency. When the target formants were presented alone, scores were relatively high and did not depend on the F0F2 contour. F2C impact was greater when F2 had a different F0 contour from the other formants. This effect was a direct consequence of the associated ΔF0; the F0F2 contour per se did not influence competitor impact.



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Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

Related Articles

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

PLoS One. 2017;12(1):e0170011

Authors: Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y

Abstract
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.
METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.
RESULTS: The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.
CONCLUSION: This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.

PMID: 28099493 [PubMed - in process]



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United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.

United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.

Cochlear Implants Int. 2017 Jan 18;:1-13

Authors: Cullington HE, Bele D, Brinton JC, Cooper S, Daft M, Harding J, Hatton N, Humphries J, Lutman ME, Maddocks J, Maggs J, Millward K, O'Donoghue G, Patel S, Rajput K, Salmon V, Sear T, Speers A, Wheeler A, Wilson K

Abstract
OBJECTIVES: This fourteen-centre project used professional rating scales and parent questionnaires to assess longitudinal outcomes in a large non-selected population of children receiving simultaneous and sequential bilateral cochlear implants.
METHODS: This was an observational non-randomized service evaluation. Data were collected at four time points: before bilateral cochlear implants or before the sequential implant, one year, two years, and three years after. The measures reported are Categories of Auditory Performance II (CAPII), Speech Intelligibility Rating (SIR), Bilateral Listening Skills Profile (BLSP) and Parent Outcome Profile (POP).
RESULTS: Thousand and one children aged from 8 months to almost 18 years were involved, although there were many missing data. In children receiving simultaneous implants after one, two, and three years respectively, median CAP scores were 4, 5, and 6; median SIR were 1, 2, and 3. Three years after receiving simultaneous bilateral cochlear implants, 61% of children were reported to understand conversation without lip-reading and 66% had intelligible speech if the listener concentrated hard. Auditory performance and speech intelligibility were significantly better in female children than males. Parents of children using sequential implants were generally positive about their child's well-being and behaviour since receiving the second device; those who were less positive about well-being changes also generally reported their children less willing to wear the second device.
CONCLUSION: Data from 78% of paediatric cochlear implant centres in the United Kingdom provide a real-world picture of outcomes of children with bilateral implants in the UK. This large reference data set can be used to identify children in the lower quartile for targeted intervention.

PMID: 28098502 [PubMed - as supplied by publisher]



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United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.

United Kingdom national paediatric bilateral project: Results of professional rating scales and parent questionnaires.

Cochlear Implants Int. 2017 Jan 18;:1-13

Authors: Cullington HE, Bele D, Brinton JC, Cooper S, Daft M, Harding J, Hatton N, Humphries J, Lutman ME, Maddocks J, Maggs J, Millward K, O'Donoghue G, Patel S, Rajput K, Salmon V, Sear T, Speers A, Wheeler A, Wilson K

Abstract
OBJECTIVES: This fourteen-centre project used professional rating scales and parent questionnaires to assess longitudinal outcomes in a large non-selected population of children receiving simultaneous and sequential bilateral cochlear implants.
METHODS: This was an observational non-randomized service evaluation. Data were collected at four time points: before bilateral cochlear implants or before the sequential implant, one year, two years, and three years after. The measures reported are Categories of Auditory Performance II (CAPII), Speech Intelligibility Rating (SIR), Bilateral Listening Skills Profile (BLSP) and Parent Outcome Profile (POP).
RESULTS: Thousand and one children aged from 8 months to almost 18 years were involved, although there were many missing data. In children receiving simultaneous implants after one, two, and three years respectively, median CAP scores were 4, 5, and 6; median SIR were 1, 2, and 3. Three years after receiving simultaneous bilateral cochlear implants, 61% of children were reported to understand conversation without lip-reading and 66% had intelligible speech if the listener concentrated hard. Auditory performance and speech intelligibility were significantly better in female children than males. Parents of children using sequential implants were generally positive about their child's well-being and behaviour since receiving the second device; those who were less positive about well-being changes also generally reported their children less willing to wear the second device.
CONCLUSION: Data from 78% of paediatric cochlear implant centres in the United Kingdom provide a real-world picture of outcomes of children with bilateral implants in the UK. This large reference data set can be used to identify children in the lower quartile for targeted intervention.

PMID: 28098502 [PubMed - as supplied by publisher]



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NIOSH launches hearing loss prevention app

CDC's National Institute for Occupational Safety and Health (NIOSH) announces the availability of a new mobile application (app) for iOS devices that will measure sound levels in the workplace to...

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NIOSH launches hearing loss prevention app

CDC's National Institute for Occupational Safety and Health (NIOSH) announces the availability of a new mobile application (app) for iOS devices that will measure sound levels in the workplace to...

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NIOSH launches hearing loss prevention app

CDC's National Institute for Occupational Safety and Health (NIOSH) announces the availability of a new mobile application (app) for iOS devices that will measure sound levels in the workplace to...

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Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

PLoS One. 2017;12(1):e0170011

Authors: Wang Q, Fei P, Gu H, Zhang Y, Ke X, Liu Y

Abstract
OBJECTIVES: By analyzing the different phenotypes of two Chinese DFNA9 families with the same mutation located in the intervening region between the LCCL and vWFA domains of cochlin and testing the functional changes in the mutant cochlin, we investigated the different pathogeneses for mutations in LCCL and vWFA domains.
METHODS: Targeted next-generation sequencing for deafness-related genes was used to identify the mutation in the proband in family #208. The probands of family #208 and family #32 with the same p.C162Y mutation were followed for more than 3 years to evaluate the progression of hearing loss and vestibular dysfunction using pure-tone audiometry, caloric testing, electrocochleogram, vestibular-evoked myogenic potential, and video head-impulse test. The disruption of normal cleavage to produce secreted LCCL domain fragments and the tendency to form aggregations of mutant cochlins were tested by in vitro cell experiments.
RESULTS: The two families showed different clinical symptoms. Family #32 was identified as having early-onset, progressive sensorineural hearing loss, similar to the symptoms in DFNA9 patients with cochlin mutations in the vWFA domain. The proband of family #208 endured late-onset recurrent paroxysmal vertigo attacks and progressively deteriorating hearing, similar to symptoms in those with cochlin mutations in the LCCL domain. We therefore suggest that the disrupted cleavage of the LCCL domain fragment is likely to cause vestibular dysfunction, and aggregation of mutant cochlin caused by mutations in the vWFA domain is responsible for early-onset hearing loss. The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin, resulting in the different phenotypes in the two families.
CONCLUSION: This study demonstrates that DFNA9 families with the same genotype may have significantly different phenotypes. The mutation site in cochlin is related to the pathological mechanism underlying the different phenotypes.

PMID: 28099493 [PubMed - in process]



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