Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Related Articles

Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Int J Audiol. 2017 Jan 23;:1-7

Authors: Huber R, Bisitz T, Gerkmann T, Kiessling J, Meister H, Kollmeier B

Abstract
OBJECTIVE: The perceived qualities of nine different single-microphone noise reduction (SMNR) algorithms were to be evaluated and compared in subjective listening tests with normal hearing and hearing impaired (HI) listeners.
DESIGN: Speech samples added with traffic noise or with party noise were processed by the SMNR algorithms. Subjects rated the amount of speech distortions, intrusiveness of background noise, listening effort and overall quality, using a simplified MUSHRA (ITU-R, 2003 ) assessment method.
STUDY SAMPLE: 18 normal hearing and 18 moderately HI subjects participated in the study.
RESULTS: Significant differences between the rating behaviours of the two subject groups were observed: While normal hearing subjects clearly differentiated between different SMNR algorithms, HI subjects rated all processed signals very similarly. Moreover, HI subjects rated speech distortions of the unprocessed, noisier signals as being more severe than the distortions of the processed signals, in contrast to normal hearing subjects.
CONCLUSIONS: It seems harder for HI listeners to distinguish between additive noise and speech distortions or/and they might have a different understanding of the term "speech distortion" than normal hearing listeners have. The findings confirm that the evaluation of SMNR schemes for hearing aids should always involve HI listeners.

PMID: 28112001 [PubMed - as supplied by publisher]

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Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Related Articles

Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Int J Audiol. 2017 Jan 23;:1-7

Authors: Huber R, Bisitz T, Gerkmann T, Kiessling J, Meister H, Kollmeier B

Abstract
OBJECTIVE: The perceived qualities of nine different single-microphone noise reduction (SMNR) algorithms were to be evaluated and compared in subjective listening tests with normal hearing and hearing impaired (HI) listeners.
DESIGN: Speech samples added with traffic noise or with party noise were processed by the SMNR algorithms. Subjects rated the amount of speech distortions, intrusiveness of background noise, listening effort and overall quality, using a simplified MUSHRA (ITU-R, 2003 ) assessment method.
STUDY SAMPLE: 18 normal hearing and 18 moderately HI subjects participated in the study.
RESULTS: Significant differences between the rating behaviours of the two subject groups were observed: While normal hearing subjects clearly differentiated between different SMNR algorithms, HI subjects rated all processed signals very similarly. Moreover, HI subjects rated speech distortions of the unprocessed, noisier signals as being more severe than the distortions of the processed signals, in contrast to normal hearing subjects.
CONCLUSIONS: It seems harder for HI listeners to distinguish between additive noise and speech distortions or/and they might have a different understanding of the term "speech distortion" than normal hearing listeners have. The findings confirm that the evaluation of SMNR schemes for hearing aids should always involve HI listeners.

PMID: 28112001 [PubMed - as supplied by publisher]

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Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Related Articles

Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Int J Audiol. 2017 Jan 23;:1-7

Authors: Huber R, Bisitz T, Gerkmann T, Kiessling J, Meister H, Kollmeier B

Abstract
OBJECTIVE: The perceived qualities of nine different single-microphone noise reduction (SMNR) algorithms were to be evaluated and compared in subjective listening tests with normal hearing and hearing impaired (HI) listeners.
DESIGN: Speech samples added with traffic noise or with party noise were processed by the SMNR algorithms. Subjects rated the amount of speech distortions, intrusiveness of background noise, listening effort and overall quality, using a simplified MUSHRA (ITU-R, 2003 ) assessment method.
STUDY SAMPLE: 18 normal hearing and 18 moderately HI subjects participated in the study.
RESULTS: Significant differences between the rating behaviours of the two subject groups were observed: While normal hearing subjects clearly differentiated between different SMNR algorithms, HI subjects rated all processed signals very similarly. Moreover, HI subjects rated speech distortions of the unprocessed, noisier signals as being more severe than the distortions of the processed signals, in contrast to normal hearing subjects.
CONCLUSIONS: It seems harder for HI listeners to distinguish between additive noise and speech distortions or/and they might have a different understanding of the term "speech distortion" than normal hearing listeners have. The findings confirm that the evaluation of SMNR schemes for hearing aids should always involve HI listeners.

PMID: 28112001 [PubMed - as supplied by publisher]

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Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Related Articles

Comparison of single-microphone noise reduction schemes: can hearing impaired listeners tell the difference?

Int J Audiol. 2017 Jan 23;:1-7

Authors: Huber R, Bisitz T, Gerkmann T, Kiessling J, Meister H, Kollmeier B

Abstract
OBJECTIVE: The perceived qualities of nine different single-microphone noise reduction (SMNR) algorithms were to be evaluated and compared in subjective listening tests with normal hearing and hearing impaired (HI) listeners.
DESIGN: Speech samples added with traffic noise or with party noise were processed by the SMNR algorithms. Subjects rated the amount of speech distortions, intrusiveness of background noise, listening effort and overall quality, using a simplified MUSHRA (ITU-R, 2003 ) assessment method.
STUDY SAMPLE: 18 normal hearing and 18 moderately HI subjects participated in the study.
RESULTS: Significant differences between the rating behaviours of the two subject groups were observed: While normal hearing subjects clearly differentiated between different SMNR algorithms, HI subjects rated all processed signals very similarly. Moreover, HI subjects rated speech distortions of the unprocessed, noisier signals as being more severe than the distortions of the processed signals, in contrast to normal hearing subjects.
CONCLUSIONS: It seems harder for HI listeners to distinguish between additive noise and speech distortions or/and they might have a different understanding of the term "speech distortion" than normal hearing listeners have. The findings confirm that the evaluation of SMNR schemes for hearing aids should always involve HI listeners.

PMID: 28112001 [PubMed - as supplied by publisher]

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Validity of the modified Berg Balance Scale in adults with intellectual and visual disabilities.

Validity of the modified Berg Balance Scale in adults with intellectual and visual disabilities.

Res Dev Disabil. 2017 Jan 20;62:58-68

Authors: Dijkhuizen A, Krijnen WP, van der Schans CP, Waninge A

Abstract
BACKGROUND: A modified version of the Berg Balance Scale (mBBS) was developed for individuals with intellectual and visual disabilities (IVD). However, the concurrent and predictive validity has not yet been determined.
AIM: The purpose of the current study was to evaluate the concurrent and predictive validity of the mBBS for individuals with IVD.
METHOD: Fifty-four individuals with IVD and Gross Motor Functioning Classification System (GMFCS) Levels I and II participated in this study. The mBBS, the Centre of Gravity (COG), the Comfortable Walking Speed (CWS), and the Barthel Index (BI) were assessed during one session in order to determine the concurrent validity. The percentage of explained variance was determined by analyzing the squared multiple correlation between the mBBS and the BI, COG, CWS, GMFCS, and age, gender, level of intellectual disability, presence of epilepsy, level of visual impairment, and presence of hearing impairment. Furthermore, an overview of the degree of dependence between the mBBS, BI, CWS, and COG was obtained by graphic modelling. Predictive validity of mBBS was determined with respect to the number of falling incidents during 26 weeks and evaluated with Zero-inflated regression models using the explanatory variables of mBBS, BI, COG, CWS, and GMFCS.
RESULTS: The results demonstrated that two significant explanatory variables, the GMFCS Level and the BI, and one non-significant variable, the CWS, explained approximately 60% of the mBBS variance. Graphical modelling revealed that BI was the most important explanatory variable for mBBS moreso than COG and CWS. Zero-inflated regression on the frequency of falling incidents demonstrated that the mBBS was not predictive, however, COG and CWS were.
CONCLUSIONS: The results indicated that the concurrent validity as well as the predictive validity of mBBS were low for persons with IVD.

PMID: 28113094 [PubMed - as supplied by publisher]

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Assessment of oxidative stress markers and hearing thresholds in patients with obstructive sleep apnea-hypopnoea treated with cysteine and superoxide dismutase therapy.

Assessment of oxidative stress markers and hearing thresholds in patients with obstructive sleep apnea-hypopnoea treated with cysteine and superoxide dismutase therapy.

Acta Biomed. 2017 Jan 16;87(3):253-258

Authors: Serra A, Maiolino L, Cocuzza S, Di Luca M, Campione G, Licciardello L, Di Mauro P

Abstract
BACKGROUND AND AIM OF THE WORK: In OSAHS, the hypoxia and reoxygenation cicles, maintain a state of oxidative stress, which seems to cause a change in the oxidative balance. Our aim is to compare the markers of oxidative stress with audiological findings and OSAHS severity, in OSAHS patients untreated and also treated ones, with cysteine and superoxide dismutase.
METHODS: 65 patients (42 Men, 23 Women) with 30-65 years age range have been enrolled, with a mean age of 52.6 ± 13.3 years with moderate OSAHS. We have analyzed plasma and lymphocyte markers of oxidative stress (glutathione, thioredoxin and heat shock protein) and they were underwent tonal audiometry. Patients were divided in two groups: Group A (32 patients) included patients treated for 8 weeks with cysteine and superoxide dismutase; Group B (33 patients) included patients untreated.
RESULTS: The research showed a significant increase in reduced glutathione levels (p<0.05) in OSAHS patients treated; conversely, it showed a decrease of oxidized glutathione level (p<0.05) in treated patients than OSAHS untreated ones. The thioredoxin values, in untreated OSAHS patients, appear to be reduced than in OSAHS patients treated (p<0.05), and that the heat shock protein values were more elevated in untreated OSAHS patients (p<0.05). Finally, it was found that a correlation exists between the severity of OSAHS and auditory dysfunction.
CONCLUSIONS: The study of the oxidative stress markers has produced results which lead to support the idea that, in a personalized therapy context, the use of antioxidant therapy can cooperate effectively the first choice treatment.

PMID: 28112690 [PubMed - in process]

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Validity of the modified Berg Balance Scale in adults with intellectual and visual disabilities.

Validity of the modified Berg Balance Scale in adults with intellectual and visual disabilities.

Res Dev Disabil. 2017 Jan 20;62:58-68

Authors: Dijkhuizen A, Krijnen WP, van der Schans CP, Waninge A

Abstract
BACKGROUND: A modified version of the Berg Balance Scale (mBBS) was developed for individuals with intellectual and visual disabilities (IVD). However, the concurrent and predictive validity has not yet been determined.
AIM: The purpose of the current study was to evaluate the concurrent and predictive validity of the mBBS for individuals with IVD.
METHOD: Fifty-four individuals with IVD and Gross Motor Functioning Classification System (GMFCS) Levels I and II participated in this study. The mBBS, the Centre of Gravity (COG), the Comfortable Walking Speed (CWS), and the Barthel Index (BI) were assessed during one session in order to determine the concurrent validity. The percentage of explained variance was determined by analyzing the squared multiple correlation between the mBBS and the BI, COG, CWS, GMFCS, and age, gender, level of intellectual disability, presence of epilepsy, level of visual impairment, and presence of hearing impairment. Furthermore, an overview of the degree of dependence between the mBBS, BI, CWS, and COG was obtained by graphic modelling. Predictive validity of mBBS was determined with respect to the number of falling incidents during 26 weeks and evaluated with Zero-inflated regression models using the explanatory variables of mBBS, BI, COG, CWS, and GMFCS.
RESULTS: The results demonstrated that two significant explanatory variables, the GMFCS Level and the BI, and one non-significant variable, the CWS, explained approximately 60% of the mBBS variance. Graphical modelling revealed that BI was the most important explanatory variable for mBBS moreso than COG and CWS. Zero-inflated regression on the frequency of falling incidents demonstrated that the mBBS was not predictive, however, COG and CWS were.
CONCLUSIONS: The results indicated that the concurrent validity as well as the predictive validity of mBBS were low for persons with IVD.

PMID: 28113094 [PubMed - as supplied by publisher]

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Assessment of oxidative stress markers and hearing thresholds in patients with obstructive sleep apnea-hypopnoea treated with cysteine and superoxide dismutase therapy.

Assessment of oxidative stress markers and hearing thresholds in patients with obstructive sleep apnea-hypopnoea treated with cysteine and superoxide dismutase therapy.

Acta Biomed. 2017 Jan 16;87(3):253-258

Authors: Serra A, Maiolino L, Cocuzza S, Di Luca M, Campione G, Licciardello L, Di Mauro P

Abstract
BACKGROUND AND AIM OF THE WORK: In OSAHS, the hypoxia and reoxygenation cicles, maintain a state of oxidative stress, which seems to cause a change in the oxidative balance. Our aim is to compare the markers of oxidative stress with audiological findings and OSAHS severity, in OSAHS patients untreated and also treated ones, with cysteine and superoxide dismutase.
METHODS: 65 patients (42 Men, 23 Women) with 30-65 years age range have been enrolled, with a mean age of 52.6 ± 13.3 years with moderate OSAHS. We have analyzed plasma and lymphocyte markers of oxidative stress (glutathione, thioredoxin and heat shock protein) and they were underwent tonal audiometry. Patients were divided in two groups: Group A (32 patients) included patients treated for 8 weeks with cysteine and superoxide dismutase; Group B (33 patients) included patients untreated.
RESULTS: The research showed a significant increase in reduced glutathione levels (p<0.05) in OSAHS patients treated; conversely, it showed a decrease of oxidized glutathione level (p<0.05) in treated patients than OSAHS untreated ones. The thioredoxin values, in untreated OSAHS patients, appear to be reduced than in OSAHS patients treated (p<0.05), and that the heat shock protein values were more elevated in untreated OSAHS patients (p<0.05). Finally, it was found that a correlation exists between the severity of OSAHS and auditory dysfunction.
CONCLUSIONS: The study of the oxidative stress markers has produced results which lead to support the idea that, in a personalized therapy context, the use of antioxidant therapy can cooperate effectively the first choice treatment.

PMID: 28112690 [PubMed - in process]

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Relationships among spinal mobility and sagittal alignment of spine and lower extremity to quality of life and risk of falls

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Yoshinori Ishikawa, Naohisa Miyakoshi, Michio Hongo, Yuji Kasukawa, Daisuke Kudo, Yoichi Shimada
Spinal deformities can affect quality of life (QOL) and risk of falling, but no studies have explored the relationships of spinal mobility and sagittal alignment of spine and the lower extremities simultaneously. Purpose of this study is to clarify the relationship of those postural parameters to QOL and risk of falling. The study evaluated 110 subjects (41 men, 69 women; mean age, 73 years). Upright and flexion and extension angles for thoracic kyphosis, lumbar lordosis, and spinal inclination were evaluated with SpinalMouse^®. Total-body inclination and hip and knee flexion angles in upright position were measured from lateral photographs. Subjects were divided into Fallers (n=23, 21%) and Non-fallers (n=87, 79%) based on past history of falls. QOL was assessed using the Short Form 36 Health Survey (SF-36^®). Age, total-body inclination, spinal inclination upright and in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and knee flexion correlated significantly with the SF-36. Multiple regression analysis revealed total-body inclination and knee flexion to have the most significant relationships with the SF-36. SF-36, total-body inclination, spinal inclination in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and hip and knee flexion angles differed significantly between Fallers and Non-fallers (P<0.05 for all). Multivariate logistic regression analyses revealed lumbar lordosis in extension to be a significant predictor of falling (P=0.038). Forward-stooped posture and knee-flexion deformity could be important indicator of lower QOL. Moreover, limited extension in the lumbar spine could be a useful screening examination for fall prevention in the elderly.



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Differences in knee adduction moment between healthy subjects and patients with osteoarthritis depend on the knee axis definition

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): S. Meireles, F. De Groote, S. Van Rossom, S. Verschueren, I. Jonkers
ObjectiveThis study, firstly, investigates the effect of using an anatomical versus a functional axis of rotation (FAR) on knee adduction moment (KAM) in healthy subjects and patients with knee osteoarthritis (KOA). Secondly, this study reports KAM for models with FAR calculated using weight-bearing and non-weight-bearing motion.DesignThree musculoskeletal models were created using OpenSim with different knee axis of rotation (AR): transepicondylar axis (TEA); FAR calculated based on SARA algorithm using a weight-bearing motion (wFAR) and a non-weight-bearing motion (nwFAR). KAM were calculated during gait in fifty-nine subjects (n=20 healthy, n=16 early OA, n=23 established OA) for all models and groups.ResultsSignificant differences between the three groups in the first peak KAM were found when TEA was used (p=0.038). However, these differences were no longer present when using FAR. In subjects with established OA, KAMs were significantly reduced when using nwFAR compared to TEA models but also compared to wFAR models.ConclusionThe presence of excessive KAM in subjects with established KOA showed to be dependent on the definition of the AR: anatomical versus functional. Therefore, caution should be accounted when comparing KAM in different studies on KOA patients. In patients with end-stage knee OA where increased passive knee laxity is likely to exist, the use of weight-bearing motions should be considered to avoid increased variability in the location and orientation of a FAR obtained from activities with only limited joint loading.



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Relationships among spinal mobility and sagittal alignment of spine and lower extremity to quality of life and risk of falls

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Yoshinori Ishikawa, Naohisa Miyakoshi, Michio Hongo, Yuji Kasukawa, Daisuke Kudo, Yoichi Shimada
Spinal deformities can affect quality of life (QOL) and risk of falling, but no studies have explored the relationships of spinal mobility and sagittal alignment of spine and the lower extremities simultaneously. Purpose of this study is to clarify the relationship of those postural parameters to QOL and risk of falling. The study evaluated 110 subjects (41 men, 69 women; mean age, 73 years). Upright and flexion and extension angles for thoracic kyphosis, lumbar lordosis, and spinal inclination were evaluated with SpinalMouse^®. Total-body inclination and hip and knee flexion angles in upright position were measured from lateral photographs. Subjects were divided into Fallers (n=23, 21%) and Non-fallers (n=87, 79%) based on past history of falls. QOL was assessed using the Short Form 36 Health Survey (SF-36^®). Age, total-body inclination, spinal inclination upright and in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and knee flexion correlated significantly with the SF-36. Multiple regression analysis revealed total-body inclination and knee flexion to have the most significant relationships with the SF-36. SF-36, total-body inclination, spinal inclination in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and hip and knee flexion angles differed significantly between Fallers and Non-fallers (P<0.05 for all). Multivariate logistic regression analyses revealed lumbar lordosis in extension to be a significant predictor of falling (P=0.038). Forward-stooped posture and knee-flexion deformity could be important indicator of lower QOL. Moreover, limited extension in the lumbar spine could be a useful screening examination for fall prevention in the elderly.



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Differences in knee adduction moment between healthy subjects and patients with osteoarthritis depend on the knee axis definition

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): S. Meireles, F. De Groote, S. Van Rossom, S. Verschueren, I. Jonkers
ObjectiveThis study, firstly, investigates the effect of using an anatomical versus a functional axis of rotation (FAR) on knee adduction moment (KAM) in healthy subjects and patients with knee osteoarthritis (KOA). Secondly, this study reports KAM for models with FAR calculated using weight-bearing and non-weight-bearing motion.DesignThree musculoskeletal models were created using OpenSim with different knee axis of rotation (AR): transepicondylar axis (TEA); FAR calculated based on SARA algorithm using a weight-bearing motion (wFAR) and a non-weight-bearing motion (nwFAR). KAM were calculated during gait in fifty-nine subjects (n=20 healthy, n=16 early OA, n=23 established OA) for all models and groups.ResultsSignificant differences between the three groups in the first peak KAM were found when TEA was used (p=0.038). However, these differences were no longer present when using FAR. In subjects with established OA, KAMs were significantly reduced when using nwFAR compared to TEA models but also compared to wFAR models.ConclusionThe presence of excessive KAM in subjects with established KOA showed to be dependent on the definition of the AR: anatomical versus functional. Therefore, caution should be accounted when comparing KAM in different studies on KOA patients. In patients with end-stage knee OA where increased passive knee laxity is likely to exist, the use of weight-bearing motions should be considered to avoid increased variability in the location and orientation of a FAR obtained from activities with only limited joint loading.



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Relationships among spinal mobility and sagittal alignment of spine and lower extremity to quality of life and risk of falls

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): Yoshinori Ishikawa, Naohisa Miyakoshi, Michio Hongo, Yuji Kasukawa, Daisuke Kudo, Yoichi Shimada
Spinal deformities can affect quality of life (QOL) and risk of falling, but no studies have explored the relationships of spinal mobility and sagittal alignment of spine and the lower extremities simultaneously. Purpose of this study is to clarify the relationship of those postural parameters to QOL and risk of falling. The study evaluated 110 subjects (41 men, 69 women; mean age, 73 years). Upright and flexion and extension angles for thoracic kyphosis, lumbar lordosis, and spinal inclination were evaluated with SpinalMouse^®. Total-body inclination and hip and knee flexion angles in upright position were measured from lateral photographs. Subjects were divided into Fallers (n=23, 21%) and Non-fallers (n=87, 79%) based on past history of falls. QOL was assessed using the Short Form 36 Health Survey (SF-36^®). Age, total-body inclination, spinal inclination upright and in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and knee flexion correlated significantly with the SF-36. Multiple regression analysis revealed total-body inclination and knee flexion to have the most significant relationships with the SF-36. SF-36, total-body inclination, spinal inclination in extension, thoracic kyphosis in flexion, lumbar lordosis upright and in extension, and hip and knee flexion angles differed significantly between Fallers and Non-fallers (P<0.05 for all). Multivariate logistic regression analyses revealed lumbar lordosis in extension to be a significant predictor of falling (P=0.038). Forward-stooped posture and knee-flexion deformity could be important indicator of lower QOL. Moreover, limited extension in the lumbar spine could be a useful screening examination for fall prevention in the elderly.



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Differences in knee adduction moment between healthy subjects and patients with osteoarthritis depend on the knee axis definition

Publication date: March 2017
Source:Gait & Posture, Volume 53
Author(s): S. Meireles, F. De Groote, S. Van Rossom, S. Verschueren, I. Jonkers
ObjectiveThis study, firstly, investigates the effect of using an anatomical versus a functional axis of rotation (FAR) on knee adduction moment (KAM) in healthy subjects and patients with knee osteoarthritis (KOA). Secondly, this study reports KAM for models with FAR calculated using weight-bearing and non-weight-bearing motion.DesignThree musculoskeletal models were created using OpenSim with different knee axis of rotation (AR): transepicondylar axis (TEA); FAR calculated based on SARA algorithm using a weight-bearing motion (wFAR) and a non-weight-bearing motion (nwFAR). KAM were calculated during gait in fifty-nine subjects (n=20 healthy, n=16 early OA, n=23 established OA) for all models and groups.ResultsSignificant differences between the three groups in the first peak KAM were found when TEA was used (p=0.038). However, these differences were no longer present when using FAR. In subjects with established OA, KAMs were significantly reduced when using nwFAR compared to TEA models but also compared to wFAR models.ConclusionThe presence of excessive KAM in subjects with established KOA showed to be dependent on the definition of the AR: anatomical versus functional. Therefore, caution should be accounted when comparing KAM in different studies on KOA patients. In patients with end-stage knee OA where increased passive knee laxity is likely to exist, the use of weight-bearing motions should be considered to avoid increased variability in the location and orientation of a FAR obtained from activities with only limited joint loading.



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Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

Related Articles

Phenotype of a Belgian Family With 6p25 Deletion Syndrome.

Ann Otol Rhinol Laryngol. 2016 Sep;125(9):734-45

Authors: Weegerink NJ, Swinnen FK, Vanakker OM, Casselman JW, Dhooge IJ

Abstract
BACKGROUND: The 6p25 deletion syndrome is one of the many syndromes with both hearing impairment as well as vision impairment. However, the audiometric characteristics and radiological findings of patients with 6p25 deletions are only scarcely described in literature. This study focused on characterizing the audiometric and radiological features of a Belgian family with a chromosome 6p25 deletion.
OBJECTIVE: To evaluate the hearing impairment, audiometric testing and radiological examination of the temporal bones in 3 family members with a 3.4 Mb deletion in chromosome band 6p25.
RESULTS: All 3 family members demonstrated slowly progressive sensorineural or mixed hearing impairment. Radiologic examination revealed thickened and sclerotic stapes in all patients and a minor internal partition type II of the cochlea in 2 patients.
CONCLUSION: There is a significant phenotypic variability within and among families with the 6p25 deletion syndrome. A thorough genotype-phenotype correlation is difficult because of the small number of affected patients and the limited clinical data available. More clinical data of families with 6p25 deletions need to be published in order to create a reliable and precise phenotypic characterization. However, our findings can facilitate counseling of hearing impairment caused by 6p25 deletions.

PMID: 27242366 [PubMed - indexed for MEDLINE]

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