Epidemiologic patterns in childhood hearing loss: a review

Davidson, Jennifer; Hyde, M. L.; Alberti, P. W.

doi:10.1016/0165-5876(89)90051-7

Cited by 92 publications

(53 citation statements)

References 84 publications

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“…On the other hand a late diagnosis of congenital hearing loss is really not acceptable as hearing loss shows a higher incidence (1 -2/1000) than phenylketonuria (1/12000) and hypothyroidism (1/3500) [41][42][43].…”

Section: Discussionmentioning

confidence: 99%

Transient evoked otoacoustic emissions (TEOAEs) in new-borns: normative data

Paludetti

Ottaviani

Fetoni

et al. 1999

International Journal of Pediatric Otorhinolaryngology

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Objecti6e: Early diagnosis and rehabilitation of congenital hearing loss are mandatory in order to achieve a satisfactory linguistic and cognitive development. A universal hearing screening in order to identify congenital hearing losses before 3 months of age is required. Methods: TEOAEs are an easy to perform, short lasting, not invasive and low-cost test with a high sensitivity. 320 at term new-borns (640 ears) without any risk factor for hearing loss underwent TEOAEs. The new-borns were screened 3 days after birth. Those who failed the first test were retested when possible before the discharge from the hospital. ABR was performed 3 months later in cases who failed TEOAE. Results: The median TEOAE sampling time was 98 s, the median test duration was 14 min. The mean stimulus amplitude was 80 dB peSPL in the left ear and 81 dB peSPL in the right ear, noise levels within the external meatus during sampling were 44 dB SPL on the right ear and 43 dB SPL on the left one, noise contained within the response (A-B difference) was 8.65 dB SPL in the left ear and 8.74 dB SPL in the right ear, mean TEOAEs amplitudes were 21.49 dB SPL and 21.78 dB SPL in the right and left ear respectively, the mean lower and upper limit of the spectrum being 678 and 5720 Hz. According to these criteria 494/640 ears (77.2%) passed the test at the first recording, while TEOAEs resulted to be absent in 146/640 ears (22.8%). A retest was performed successfully before the discharge from the Hospital in 30/640 ears (4.7%). An ABR recording within the third month of life was scheduled as out-patient in the 58 new-borns (116 ears, 18.2%) who failed the test. 18 of them (36 ears, 5.6%) did not complete the program, 19 new-borns (38 ears, 11.8%) showed a normal ABR, while two new-borns (four ears, 0.6%) failed ABR after 3 months. A second ABR performed after 6 months was normal. Conclusions: TEOAEs recording seems at now the test of choice for a universal hearing screening. However, a greater standardization of criteria both in performing the test and in evaluating the results is needed.

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Section: Discussionmentioning

confidence: 99%

Transient evoked otoacoustic emissions (TEOAEs) in new-borns: normative data

Paludetti

Ottaviani

Fetoni

et al. 1999

International Journal of Pediatric Otorhinolaryngology

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“…9 Given this complexity, it is not surprising that sequence variation in any one of hundreds of genes can lead to hearing loss. Hearing loss occurs in approximately 1 to 3 of 1,000 children, 10 and is generally attributed to pure genetic factors in approximately 50% of cases. 11 In approximately 30% of cases, a specific syndrome can be identified, with more than 400 syndromes claiming hearing loss as a component.…”

Section: Hearing Lossmentioning

confidence: 99%

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

Kenneson

Braun

Boyle

2002

Genetics in Medicine

362

323

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Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic sensorineural hearing loss in some populations. This article reviews genetic epidemiology studies of the alleles of GJB2, prevalence rates, genotype-phenotype relations, contribution to the incidence of hearing loss, and other issues related to the clinical validity of genetic testing for GJB2. This review focuses primarily on three alleles: 167⌬T, 35⌬G, and 235⌬C. These alleles are recessive for nonsyndromic prelingual sensorineural hearing loss, and the evidence suggests complete penetrance but variable expressivity. GENEThe Gap Junction Beta 2 or GJB2 gene (GenBank M86849, OMIM: *121011) resides at the chromosomal location 13q11 and encodes for the protein connexin 26, a beta class gap junction protein expressed in the cochlea and in the epidermis. 3 Connexin 26 hexamers form channels between cells that, when open, allow cell-to-cell diffusion of small molecules. This function is necessary for recycling potassium in the cochlea that plays a critical role in sensorineural hearing function. 4 The GJB2 gene is small, with the entire coding region of 680 base pairs falling within exon 2. GENE VARIANTSAided by the relatively small size of the GJB2 gene, the flourish of activity on the genetics of hearing loss has resulted in rapid identification of GJB2 variants. Missense, nonsense, frameshift, insertion, and deletion variants have all been reported. To identify published genetic epidemiology studies related to GJB2, we searched the MEDLINE database using the keywords GJB2, connexin 26, and hearing loss to identify relevant studies. References in related studies were also reviewed.A list of GJB2 variants is presented in Table 1. Some variants are benign polymorphisms, with a high prevalence rate in various populations. For example, the V27I, E114G, and I203T variants were found on 54%, 55%, and 94% of Japanese chromosomes, respectively. 5,6 The 167⌬T, 35⌬G (also known as 30⌬G), 235⌬C, and R143W alleles are the most common hearing loss-associated GJB2 alleles in the Ashkenazi Jewish, Caucasian, Japanese, and Ghanian populations, respectively. The best-characterized population is Caucasian of northern European descent. Table 2 presents the heterozygote carrier frequencies of the first three alleles either in the general population (hearing status unknown) or in control groups (without hearing loss). Ascertainment details were generally lacking and are listed in Table 2 as described in the publication. Likewise, descriptive information, including sex and age, were generally not provided. Despite these limitations, the studies consistently reported a prevalence of the 35⌬G allele in the range of 1% to 3%. In fact, one population-based study, which genotyped 560 randomly selected neonatal bloodspots in the Midwestern United States, detected a 35⌬G heterozygosity rate of 2.5% in this predominantly Caucasian population. 7 In addition to Caucasians, ...

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“…Otitis media, inflammation of the middle ear epithelial lining, remains the most common cause of hearing impairment in children (Davidson et al 1989;Kubba et al 2000). It is also the most common cause of surgery in children in the developed world.…”

Section: Introductionmentioning

confidence: 99%

The Deaf Mouse Mutant Jeff (Jf) is a Single Gene Model of Otitis Media

Hardisty

Erven

Logan

et al. 2002

JARO

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Otitis media is the most common cause of hearing impairment in children and is primarily characterized by inflammation of the middle ear mucosa. Yet nothing is known of the underlying genetic pathways predisposing to otitis media in the human population. Increasingly, large-scale mouse mutagenesis programs have undertaken systematic and genomewide efforts to recover large numbers of novel mutations affecting a diverse array of phenotypic areas involved with genetic disease including deafness. As part of the UK mutagenesis program, we have identified a novel deaf mouse mutant, Jeff ( Jf ). Jeff maps to the distal region of mouse chromosome 17 and presents with fluid and pus in the middle ear cavity. Jeff mutants are 21% smaller than wild-type littermates, have a mild craniofacial abnormality, and have elevated hearing thresholds. Middle ear epithelia of Jeff mice show evidence of a chronic proliferative otitis media. The Jeff mutant should prove valuable in elucidating the underlying genetic pathways predisposing to otitis media.

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Epidemiologic patterns in childhood hearing loss: a review

Cited by 92 publications

References 84 publications

Transient evoked otoacoustic emissions (TEOAEs) in new-borns: normative data

Transient evoked otoacoustic emissions (TEOAEs) in new-borns: normative data

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

The Deaf Mouse Mutant Jeff (Jf) is a Single Gene Model of Otitis Media

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