Profound childhood hearing loss in a South Africa cohort: Risk profile, diagnosis and age of intervention

Roux, Talita le; Swanepoel, De Wet; Louw, Anel; Vinck, Bart; Tshifularo, Mashudu

doi:10.1016/j.ijporl.2014.09.033

Cited by 33 publications

(35 citation statements)

References 53 publications

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“…Based on clinical and otologic examinations, researchers identified Waardenburg (n = 13), vitiligo deafness (n = 2), treacher collins (n = 2), Hunters (n = 1), Crouzon's (n = 1), Pendred's (n = 1), and trichorhinophalangeal (n = 1) syndromes (Sellars, 1977). Additional reports of syndromic deafness in Sub-Saharan Africa include cases of Usher's, Pierre Robinson, and Leopard syndromes (le Roux et al, 2015). While these syndromes account for the majority of syndromic hearing loss cases in the developed world, they are infrequent causes of hearing loss in African populations and are not considered to be strong risk factors for hearing loss in these populations (Friderichs et al, 2012).…”

Section: Syndromic Deafnessmentioning

confidence: 99%

The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

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Section: Syndromic Deafnessmentioning

confidence: 99%

The genetic basis of deafness in populations of African descent

Rudman

Kabahuma

Bressler

et al. 2017

Journal of Genetics and Genomics

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“…Early implantation during periods of optimal neural plasticity maximizes early auditory experience and leads to more ageappropriate speech and language skills [67,82,83], which may also increase the likelihood for mainstream education from earlier ages onwards. Likely contributing factors for this delay between diagnosis and implantation include funding constraints, lack of prompt referral to specialized CI services, parental barriers such as delayed/missed appointments, complex medical conditions, family indecision and geographical location [81,84,85].…”

Section: Discussionmentioning

confidence: 99%

Predictors of pediatric cochlear implantation outcomes in South Africa

Roux

Vinck

Butler

et al. 2016

International Journal of Pediatric Otorhinolaryngology

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Objective: To identify and describe predictors of pediatric cochlear implantation outcomes in a South African population. Methods:A retrospective study of 301 pediatric CI recipients from five cochlear implant programs was conducted and cross-sectional outcome data were added at the time of data collection. Twenty potential prognostic factors were identified from the retrospective dataset, including biographical, cochlear implant (CI), family and risk factors. Multiple regression analyses was performed to identify predictor variables that influence outcomes in terms of auditory performance (CAP scores), speech production (SIR scores), communication mode and educational placement.Results: Although implanted children within this sample did not have equal opportunity to access a second implant, bilateral implantation was strongly predictive of better auditory performance and speech production scores, an oral mode of communication and mainstream education. NICU admittance/ prematurity were associated with poorer auditory performance and speech production scores, together with a higher probability for non-oral communication and non-mainstream education. The presence of one or more additional developmental 2 condition was predictive of poorer outcomes in terms of speech production and educational placement, while a delay between diagnosis and implantation of more than one year was also related to non-mainstream education. Ethnicities other than Caucasian were predictive of poorer auditory performance scores and a lower probability for mainstream education.Conclusion: An extensive range of prognostic indicators were identified for pediatric CI outcomes in South Africa. These predictive factors of better and poorer outcomes should guide pediatric CI services to promote optimal outcomes and assist professionals in providing evidence-based informational counselling.

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“…[2] South African (SA) studies have documented bacterial meningitis as a risk factor for hearing loss. [3,4] Furthermore, 6% of all acquired sensorineural hearing loss (SNHL) in the paediatric population can be attributed to bacterial meningitis. [3] A 12-year study examining the risk of neurological abnormalities and central auditory dysfunction following meningitis reported that SNHL may remain stable, or may fluctuate spontaneously.…”

Section: Researchmentioning

confidence: 99%

“…[3,4] Furthermore, 6% of all acquired sensorineural hearing loss (SNHL) in the paediatric population can be attributed to bacterial meningitis. [3] A 12-year study examining the risk of neurological abnormalities and central auditory dysfunction following meningitis reported that SNHL may remain stable, or may fluctuate spontaneously. [2] Permanent and transient hearing loss develops within the first few days after the onset of meningitis, [1] highlighting the importance of early audiology referrals and accurate audiological diagnosis.…”

Section: Researchmentioning

confidence: 99%

Hearing outcomes in children with meningitis at Red Cross War Memorial Children’s Hospital, Cape Town, South Africa: A silent crisis

2018

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Background. Bacterial meningitis is one of the most common causes of hearing loss. Hearing loss develops within the first few days following the onset of meningitis, highlighting the importance of early audiology referrals. Post-meningitis hearing loss may lead to cochlear ossification, making traditional cochlear implantation impossible. Objectives. To determine the duration of time from meningitis diagnosis to audiology referral. A second objective was to determine the prevalence and severity of meningitis-related sensorineural hearing loss (SNHL) at Red Cross War Memorial Children's Hospital (RCWMCH), a paediatric tertiary hospital in Cape Town, South Africa (SA). Methods. A retrospective folder review of all children diagnosed with meningitis and referred for audiological evaluation was conducted over an 18-month period between 1 January 2015 and 30 June 2016. Descriptive statistical methods were used for data analysis. Results. The total number of inpatients diagnosed with unspecified meningitis at RCWMCH between January 2015 and June 2016 was 345. The total number diagnosed with bacterial meningitis was 68. Only 16 children with meningitis (23.5%) were referred to the Department of Audiology at RCWMCH over the 18-month period. Twelve children had confirmed bacterial meningitis. All the children had up-to-date immunisations. The mean (standard deviation) time from diagnosis to audiology referral was 17 weeks (16.9; range 1-60). The overall prevalence of hearing loss was 42.8%. Four children (28.5%) were diagnosed with severe to profound SNHL. Conclusions. Less than a quarter of all children diagnosed with bacterial meningitis at RCWMCH over the 18-month study period were referred to audiology. Frequent delays in referrals for audiological assessment following meningitis were noted. This may indicate a lack of awareness on the part of doctors. Healthcare practitioners need to be made aware of the need for prompt audiological testing for children with meningitis. In SA, local guidelines for early diagnosis and monitoring of hearing in children who have had meningitis should be developed in order to improve hearing outcomes.

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Profound childhood hearing loss in a South Africa cohort: Risk profile, diagnosis and age of intervention

Cited by 33 publications

References 53 publications

The genetic basis of deafness in populations of African descent

The genetic basis of deafness in populations of African descent

Predictors of pediatric cochlear implantation outcomes in South Africa

Hearing outcomes in children with meningitis at Red Cross War Memorial Children’s Hospital, Cape Town, South Africa: A silent crisis

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