A Study of Effect of Consanguinity on Cochlear Morphology in Patients with Congenital Bilateral Profound Sensorineural Hearing Loss

Kavitha, Y; Sabarigirish, K.; Joish, Upendra Kumar; Saxena, S; Dutta, Angshuman

doi:10.1007/s12070-017-1230-2

Cited by 3 publications

(3 citation statements)

References 6 publications

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“…3 Some authors investigated the cause of this association and Kavitha et al performed a prospective MRI study that suggested that genetic defects resulted in a cochlea with normal morphology but abnormal function. 10 A study carried out in Qatar, a country with one of the highest rates of consanguinity in the world, showed a strong correlation between parental consanguinity and hearing loss. 4 In a study from Pakistan, a country with a high rate of consanguinity, there was a positive association between consanguinity and profound sensorineural hearing loss.…”

Section: Discussionmentioning

confidence: 99%

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study

Leal

Lopes²,

Peixoto³

et al. 2023

Acta Med Port

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Introduction: Genetic causes are responsible for half of the cases of hearing loss, most of them being the result of non-syndromic genetic changes resulting from autosomal recessive inheritance. Parental consanguinity might be an indicator to consider in the diagnosis of these cases. The aim of this study was to assess its importance as a risk factor for childhood hearing loss.Material and Methods: A retrospective cohort study conducted in a district hospital, between 2014 and 2018. We included all live births born during this period and excluded those with risk factors for childhood hearing loss other than parental consanguinity and those without hearing screening. We formed two study groups: newborns with parental consanguinity and newborns without risk factors. All the participants underwent hearing screening with the primary outcome of this study being the result of the screening. Those with a not normal result or with parental consanguinity also underwent diagnostic audiological evaluation.Results: Among 8513 live births, we studied 96 newborns with first-degree parental consanguinity and 96 newborns without risk factors. We found a statistically significant difference (p = 0.007) between the groups, with a ‘refer’ screening result rate of 24% in the group with parental consanguinity and 9.4% in the group without risk factors. We diagnosed one case of sensorineural hearing loss and another of mixed hearing loss in the first group andnone of these cases in the second.Conclusion: Parental consanguinity was associated with a higher risk of a refer screening result in newborns, which suggests the need to consider this as a risk factor for childhood hearing loss.

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Section: Discussionmentioning

confidence: 99%

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study

Leal

Lopes²,

Peixoto³

et al. 2023

Acta Med Port

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“…However, Kavitha et al study showed normal cochlear morphology in all the children born out of consanguineous marriages. Authors suggested that consanguinity, as a risk factor for development of sensorineural hearing loss, may not result in gross structural anomaly of cochlea [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Determination risk factors for severe and profound hearing loss in child candidates for cochlear implantation in southeast of Iran during 2014-2020

et al. 2022

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Background Hearing loss can have a major impact on children’s language development, academic success and hearing comprehension. The aim of the present study was to determinate risk factors for severe and profound hearing loss in child candidates for cochlear implantation in southeast of Iran during 2014–2020. Materials and methods This case-control study consisted of 400 children referring to a cochlear implant center (in southeastern Iran) from Bandar Abbas, Zahedan and Kerman during the years 2014–2020 as cases. The subjects were selected using the random sampling method; 200 children hospitalized in Shafa and Afzalipour hospitals were selected as controls. Results Based on the results of the multivariate logistic regression, weight less than 1500 g (OR = 4.40: p < 0.05), hospitalization in NICU (OR = 7.21: p < 0.05), family history of hearing loss (OR = 11.47: p < 0.05), Gestational age over 35 (OR = 9.63: p < 0.05), intracranial hemorrhage (OR = 5.18: p < 0.05), consanguineous marriage (OR = 12.48: p < 0.05) and high fever and seizures (OR = 3.02: p < 0.05) were recognized as risk factors for sensorineural deafness in children. Conclusion Most of the risk factors for deafness are preventable, and hereditary factors play an important role in congenital deafness in children. Therefore, genetic counseling before consanguineous marriage, early diagnosis, timely intervention can prevent many cases of hearing loss in children.

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“…But consanguineous marriage has not resulted in any structural anomaly of cochlea. 18 Genetic testing in these offsprings need not be extensive and thus we can limit it to the selective screening of those genes responsible for the functioning of the cochlea rather than its anatomical development. Our study has tried to identify those genes which need to be specifically screened.…”

Section: Discussionmentioning

confidence: 99%

Frequency of W24X Gene Polymorphism among the Students from Hearing Impaired Schools of Shimoga District

Bhaktha

Manjula

2021

BJOHNS

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Introduction An important accompaniment of Non-syndromic sensorineural hearing loss is family history and consanguinity. One of the widely studied single nucleotide polymorphism is the gap junction protein beta-2 (GJB2) gene which encodes the protein connexin26. This study aims to detect the frequency of W24X mutation in a population with non-syndromic sensorineural hearing loss concerning the degree of consanguinity. Materials and Methods The study includes 76 subjects with Non-syndromic sensorineural hearing loss. These subjects had congenital sensorineural hearing loss and other causes for the same had been ruled out. The SNP rs 104894396 was identified by the PCR-RFLP method. Results The frequency of the wild allele was 0.84% and the mutant allele was 0.15%. The frequency of wild allele and mutant allele did not differ much between patients with and without consanguinity. The association between consanguineous marriage and allele frequency was not significant. Gene polymorphism was not present in 77 percent of our NSHL subjects, though 79 percent of our study population were a result of consanguineous marriage. Conclusion Though the role of consanguineous marriages in congenital sensorineural hearing loss is well established, the association between allele frequency and consanguineous marriage was not seen. We assume that other genes responsible for deafness may be involved in the population.

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A Study of Effect of Consanguinity on Cochlear Morphology in Patients with Congenital Bilateral Profound Sensorineural Hearing Loss

Cited by 3 publications

References 6 publications

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study

Parental Consanguinity and Risk for Childhood Hearing Loss: A Retrospective Cohort Study

Determination risk factors for severe and profound hearing loss in child candidates for cochlear implantation in southeast of Iran during 2014-2020

Frequency of W24X Gene Polymorphism among the Students from Hearing Impaired Schools of Shimoga District

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