Diagnosis and Treatment of Congenital Sensorineural Hearing Loss

Chari, Divya A; Chan, Dylan K.

doi:10.1007/s40136-017-0163-3

Cited by 25 publications

(19 citation statements)

References 38 publications

(41 reference statements)

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“…2 Identifying the underlying cause of HI is critical, as it allows for targeted therapeutic decision making. 3 About 30 to 50% of congenital cases of HI in sub-Saharan Africa are inherited, with non-syndromic HI (NSHI) representing approximately 86.1% to 92.5% of all genetic HI cases. 2,4 NSHI is mainly inherited in an autosomal recessive (AR) manner (∼80% of cases), while autosomal dominant (AD) inheritance is less frequent but not negligible, as it accounts for ∼18% of NSHI cases.…”

Section: Introductionmentioning

confidence: 99%

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

Wonkam‐Tingang

Schrauwen

Esoh

et al. 2021

Exp Biol Med (Maywood)

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Approximately half of congenital hearing impairment cases are inherited, with non-syndromic hearing impairment (NSHI) being the most frequent clinical entity of genetic hearing impairment cases. A family from Cameroon with NSHI was investigated by performing exome sequencing using DNA samples obtained from three family members, followed by direct Sanger sequencing in additional family members and controls participants. We identified an autosomal dominantly inherited novel missense variant [NM_001174116.2:c.918G>T; p.(Q306H)] in DMXL2 gene (MIM:612186) that co-segregates with mild to profound non-syndromic sensorineural hearing impairment . The p.(Q306H) variant which substitutes a highly conserved glutamine residue is predicted deleterious by various bioinformatics tools and is absent from several genome databases. This variant was also neither found in 121 apparently healthy controls without a family history of hearing impairment , nor 112 sporadic NSHI cases from Cameroon. There is one previous report of a large Han Chinese NSHI family that segregates a missense variant in DMXL2. The present study provides additional evidence that DMXL2 is involved in hearing impairment etiology, and we suggest DMXL2 should be considered in diagnostic hearing impairment panels.

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Section: Introductionmentioning

confidence: 99%

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

Wonkam‐Tingang

Schrauwen

Esoh

et al. 2021

Exp Biol Med (Maywood)

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“…Meanwhile, ABR / BERA measurements used Biologic System AEP Version 1.3.0 (years 2004-2014) (Bio-Logic Systems Corp., Mundelein, Chicago, IL, USA), where the results of the measurement were the intensity of the V wave appeared ≤25 dB and > 26 dB. Interpretation of examination results confirmed no hearing loss if the OAE result was "Pass" and the ABR / BERA result was the V wave appeared at intensity ≤25 dB (12,13) .…”

Section: Participantsmentioning

confidence: 99%

Neonatal Asphyxia as a Risk Factor for Sensorineural Hearing Loss in Indonesian Children

Anggraeni,

Wijana,

Rachyanti

2021

Indian Journal of Forensic Medicine & Toxicology

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Background: Neonatal Asphyxia is one of the risk factors for hearing loss in children. Neonatal Asphyxia causes cochlear damage due to lack of oxygenation and tissue perfusion which can lead to cell death. Objective: Determining the risk of Neonatal Asphyxia for the occurrence of sensorineural hearing loss in children. Methods: A case control study was done between July to September 2020. Children with sensorineural hearing loss are on study group and the control group is children with normal hearing. Participants were measured for previous labor history based on medical records that confirmed asphyxia. Participants were also examined for DPOAE and ABR / BERA. The measurement results were analyzed using the Chi-Square test, which was significant if p <0.05. Results: Most participants aged 2-3 years experienced hearing loss (65.96%) and normal (68.08%; p = 0.835). Participants of sensorineural hearing loss with Neonatal Asphyxia (57.4%) were more than non-Neonatal Asphyxia (42.6%; OR = 1.82; 95% CI 0.81 -4.13; p = 0.149). Conclusion: Neonatal Asphyxia increases the risk of sensorineural hearing loss by 1.82 times compared to children without Neonatal Asphyxia.

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“…2 A genetic diagnosis can similarly help elucidate the type and progression of HL, thus significantly affecting management. 6 During the past decade, genetic testing has become a cornerstone of diagnostic workup for children with HL. Causative variants in more than 150 genes have been identified so far, including GJB2 (OMIM 220290), SLC26A4 (OMIM 605646), OTOF (OMIM 603681), CDH23 (OMIM 601067), and STRC (OMIM 606440).…”

Section: Introductionmentioning

confidence: 99%

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort

et al. 2022

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ImportanceA genetic diagnosis can help elucidate the prognosis of hearing loss, thus significantly affecting management. Previous studies on diagnostic yield of hearing loss genetic tests have been based on largely homogenous study populations.ObjectivesTo examine the diagnostic yield of genetic testing in a diverse population of children, accounting for sociodemographic and patient characteristics, and assess whether these diagnoses are associated with subsequent changes in clinical management.Design, Setting, and ParticipantsThis retrospective cohort study included 2075 patients seen at the Children’s Communications Clinic, of whom 517 completed hearing loss gene panel testing between January 1, 2015, and November 1, 2021, at the University of California, San Francisco Benioff Children’s Hospital system. From those 517 patients, 426 children with at least 2 audiograms were identified and analyzed. Data were gathered from November 2021 to January 2022 and analyzed from January to February 2022.Main Outcomes and MeasuresThe measures of interest were sociodemographic characteristics (age at testing, gender, race and ethnicity, primary language, and insurance type), hearing loss characteristics, and medical variables. The outcome was genetic testing results. Variables were compared with univariate and multivariable logistic regression.ResultsOf the 2075 patients seen at the Children’s Communications Clinic, 517 (median [range] age, 8 [0-31] years; 264 [51.1%] male; 351 [67.9%] from an underrepresented minority [URM] group) underwent a hearing loss panel genetic test between January 1, 2015, and November 1, 2021. Among those 517 patients, 426 children (median [range] age, 8 [0-18] years; 221 [51.9%] male; 304 [71.4%] from an URM group) with 2 or more audiograms were included in a subsequent analysis. On multivariable logistic regression, age at testing (odds ratio [OR], 0.87; 95% CI, 0.78-0.97), URM group status (OR, 0.29; 95% CI, 0.13-0.66), comorbidities (OR, 0.27; 95% CI, 0.14-0.53), late-identified hearing loss (passed newborn hearing screen; OR, 0.27; 95% CI, 0.08-0.86), and unilateral hearing loss (OR, 0.04; 95% CI, 0.005-0.33) were the only factors associated with genetic diagnosis. No association was found between genetic diagnosis yield and other sociodemographic variables or hearing loss characteristics. Patients in URM and non-URM groups had statistically similar clinical features. A total of 32 of 109 children (29.4%) who received a genetic diagnosis received diagnoses that significantly affected prognosis because of identification of syndromic or progressive sensorineural hearing loss or auditory neuropathy spectrum disorder relating to otoferlin.Conclusions and RelevanceThis cohort study’s findings suggest that genetic testing may be broadly useful in improving clinical management of children with hearing loss. More research is warranted to discover and characterize diagnostic genes for those who have been historically underrepresented in research and medicine.

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Diagnosis and Treatment of Congenital Sensorineural Hearing Loss

Cited by 25 publications

References 38 publications

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family

Neonatal Asphyxia as a Risk Factor for Sensorineural Hearing Loss in Indonesian Children

Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort

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