Family History Of Hearing Impairment Research Articles

Cochlear implantation compliance among minorities at high risk for hearing impairment following universal newborn hearing screening.

The universal newborn hearing screening (UNHS) allows for early detection of hearing impairment (HI). The goal of this current study was to evaluate the impact of cultural background involving consanguineous marriage on newborn HI diagnosed using UNHS, and compliance with hearing rehabilitation. This is a retrospective cohort study that included all children born at a single tertiary medical center between 2011 and 2017 who did not pass the UNHS (oto-acoustic emission and auditory brainstem response), and were diagnosed with HI. The study group included children from consanguineous marriage cultural background which were compared to a control group-all other children. Data were retrieved from the computerized medical charts and included epidemiological, audiological, and pregnancy/delivery-related data, and known risk factors for congenital HI. A total of 238 (196 study and 42 control) neonates were diagnosed with HI. Family history of HI was significantly more prevalent in the study group in mild-severe and profound HI subgroups (p = 0.03 and 0.01, respectively). Study group demonstrated lower rates of cochlear implantation (CI) compliance (p = 0.079), performed at a significantly older age (23 months (IQR 17-36.5) vs. 16 (IQR 12-26) months, p = 0.021). When recommended, bilateral CI compliance was significantly lower in the study group (94.1 vs.48.9%, p < 0.001). UNHS allows for early HI detection among minority populations at higher risk for CI, yet compliance rates remain lower compared with control. Familiarity of families with the importance of early detection and HI risk may result in higher compliance rates for cochlear implantation. Health providers should aim to improve education and communication with this unique group of patients and consider health promotion programs.

Risk Factors For Treatment-Induced Hearing Impairment: Perspective From A Resource-Poor African Setting

Background - Treatment-induced hearing impairment can result from prolonged administration of potentially ototoxic medications often in the pharmacotherapeutic management of chronic illnesses such as drug-resistant tuberculosis. Whereas drug ototoxicity may be idiosyncratic, it is imperative to be aware of its potential risk factors while treating patients. We aimed in our study to identify risks factors for hearing impairment in patients treated for drug-resistant pulmonary tuberculosis at our Centre. Patients and methods – This study was a 24-month prospective study of drug-resistant tuberculosis patients treated at the pulmonology unit of Federal Medical Centre, Owerri, Nigeria. Each patient had pure tone audiometry before commencement of treatment (baseline) and after three months of treatment for comparison. Clinical data was obtained using pre-tested examiner-administered questionnaire. Data collected was analyzed with SPSS version 25.0 and statistical significance set at p &lt; 0.05. Results - Thirty-eight (38) participants completed the study with a male-to-female (M:F) ratio of 1.53:1. The modal age group was 41-50 years and median duration of presenting complaints 9.9 weeks. HIV seroprevalence was 18.4% among the study participants. The baseline prevalence of hearing impairment was 73.7% but increased to 89.5% after three months of treatment with a cumulative incidence of 15.8% which was statistically significant (p &lt; 0.001). The identified risk factors for hearing impairment were age (&gt;50 years), family history of hearing impairment, kanamycin administration and BMI &lt;18.5kg/m2 . Conclusion – Kanamycin was associated with more severe hearing impairment than capreomycin. Advancing age, family history of hearing impairment and BMI &lt; 18.5kg/m2 were risk factors for development of hearing impairment in patients treated for drug-resistant tuberculosis in our setting.

Could Deafness Be the Hidden Burden of the Opioid Crisis?

The United States’ opioid epidemic has become one of its worst public health crises, but fentanyl abuse is now increasingly being observed outside of the US. 1 Indeed, illicitly manufactured fentanyl is at the heart of the third wave of the opioid epidemic in the US, which began in 2013. 2 Risk of opioid overdose increases among those of male gender aged 20-40 years, in addition to those with a history of psychiatric illness, or chronic, severe medical illness. 3The Patient’s Audiometry Results. Opioid crisis, opioid epidemic, hearing loss, deafness, therapy.While the focus is naturally on fatalities, which the Centers for Disease Control and Prevention cites as the main cause of injury-related death in the US 4, this case demonstrates the additional detriment opioids may have on hearing, which is likely underreported. Patients might present with bizarre behavior, which can reasonably be attributed to comorbid psychiatric illness or drug misuse itself, although could be due to sensory impairment secondary to drug use. While the risk of respiratory depression leading to hypoxia and subsequent brain injury is well understood, the impact on hearing is less so. One proposed mechanism is hypoperfusion of the vestibulocochlear system because of vasopasm, opioid induced vasculitis, or contamination of the drug with other substances, which might be particularly true for illegally procured opiates. A hypoxic independent adverse reaction is also believed to be at play and likely more prevalent among younger patients. This might also have ramifications for those on long-term methadone treatment, in whom long-term hearing loss is rarely reported but subtle sensorineural hearing loss may present. 5 The following case study evidences the sudden sensorineural hearing loss that can occur as an additional, lesser-known adverse event, alongside severe respiratory and generalized central nervous system depression. Case Study: An adolescent male is found at home by a family member, having last been seen a few hours previously. He is unresponsive and cyanosed. On arrival to the emergency department, he is immediately transferred to the intensive care unit for intubation and ventilation to manage type 2 respiratory failure. His family confirms a history of recreational cannabis use, and aside from common childhood (nonauditory) infections, there is no other past medical history and no family history of hearing impairment. He was previously fit and well, working full time at a warehouse. Opioid misuse was confirmed following admission, based on relevant evidence found in his bedroom. Following extubation, behavioral disturbances manifested, marked by agitation, verbal aggression, and sexual disinhibition, which were not in keeping with his premorbid personality. This was managed with input from Liaison Psychiatry and use of medication: olanzapine and clonazepam. Extubation also marked an awareness of deafness, which was confirmed as sensorineural deafness on audiology testing, for which bilateral hearing aids were ultimately required. Audiometry (Figure 1) confirmed severe hearing loss in the left ear and moderate hearing loss in the right ear. By the time of admission to neurorehabilitation at a different hospital group two months after the initial presentation, hearing aids were not yet available. Verbal communication was augmented with writing and gestures. Remarkably, he remained jovial, although his family’s distress was heightened by an inability to communicate with him verbally. He was nonetheless consistent in identifying a “brain problem” as the reason for admission and, of his own volition, spoke of not wanting to resume illicit drug use, recognizing its adverse impact. Clonazepam was ceased, followed by olanzapine, within the first fortnight of admission, given transfer to an environment that offered regular routine and neurorehabilitation therapies. Supply of hearing aids approximately a fortnight into the neurorehabilitation admission marked significant improvement in engagement in therapies and social interaction, much to the delight of his parents. PATIENT OUTCOME On admission to a specialist inpatient neurorehabilitation unit, where a more structured routine could be facilitated, with use of bilateral hearing aids, previous inappropriate behavior ceased. He was increasingly able to manage personal activities of daily living independently. CONSIDERATIONS Clinicians are well-versed in the respiratory adverse events associated with opioid overdose, but lesser known is the risk of hearing loss. Audiologists can help voice the importance of hearing assessment in cases of opioid overdose to help patients achieve optimal recovery outcomes. Consider audiological testing in individuals who present with opioid overdose. Addressing hearing loss can help improve engagement in a structured neurorehabilitation program, which can support functional recovery. Educate family members and caregivers of the implications of hearing loss, so that improved care and communcation can be facilitated.

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal.

Simple SummaryThe prevalence of GJB2-related (MIM: 121011) congenital non-syndromic hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European ancestry. However, in sub-Saharan Africa, except for Ghana, previous data showed that the prevalence of GJB2-associated NSHI is close to zero. To investigate the contribution of GJB2 mutations in autosomal recessive NSHI in Senegal, we screened 129 affected and 143 unaffected individuals from 44 multiplex families, 9 sporadic cases, and 148 hearing controls with no personal or family history of hearing impairment, by targeted gene sequencing. We identified three pathogenic GJB2 variants in 34% (n = 15/44) of multiplex families, of which 80% (n = 12/15) were consanguineous. The most common variant, GJB2: c.94C>T: p.(Arg32Cys), accounted for 27.3% (n = 12/44) of familial cases. We also identified the previously reported “Ghanaian” founder variant, GJB2: c.427C>T: p.(Arg143Trp), in four multiplex Senegalese families. Relatively high allele frequencies of c.94C>T. and c.427C>T variants were observed among the screened hearing controls: 1% (n = 2/148 ∗ 2), and 2% (n = 4/148 ∗ 2), respectively. No GJB6-D13S18 deletion was identified in any of the hearing-impaired participants. The data suggest that GJB2: c.94C>T: p.(Arg32Cys) should be routinely tested in NSHI in Senegal.This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal. We investigated a total of 129 affected and 143 unaffected individuals from 44 multiplex families by segregating autosomal recessive non-syndromic HI, 9 sporadic HI cases of putative genetic origin, and 148 control individuals without personal or family history of HI. The DNA samples were screened for GJB2 coding-region variants and GJB6-D3S1830 deletions. The mean age at the medical diagnosis of the affected individuals was 2.93 ± 2.53 years [range: 1–15 years]. Consanguinity was present in 40 out of 53 families (75.47%). Variants in GJB2 explained HI in 34.1% (n = 15/44) of multiplex families. A bi-allelic pathogenic variant, GJB2: c.94C>T: p.(Arg32Cys) accounted for 25% (n = 11/44 families) of familial cases, of which 80% (n = 12/15) were consanguineous. Interestingly, the previously reported “Ghanaian” founder variant, GJB2: c.427C>T: p.(Arg143Trp), accounted for 4.5% (n = 2/44 families) of the families investigated. Among the normal controls, the allele frequency of GJB2: c.94C>T and GJB2: c.427C>T was estimated at 1% (2/148 ∗ 2) and 2% (4/148 ∗ 2), respectively. No GJB6-D3S1830 deletion was identified in any of the HI patients. This is the first report of a genetic investigation of HI in Senegal, and suggests that GJB2: c.94C>T: p.(Arg32Cys) and GJB2: c.427C>T: p.(Arg143Trp) should be tested in clinical practice for congenital HI in Senegal.

The effects of mode of delivery, maternal age, birth weight, gender and family history on screening hearing results: A cross sectional study

IntroductionCongenital hearing impairment is one of the principal issues that make distress to families especially those with a family history of hearing problems. Early detection of hearing impairment can make a difference regarding cognitive, attention, learning, speech, and social and emotional development of babies. Otoacoustic test emission is a very common screening test that can be used to pick up early cases and relieve family stress. We tried to evaluate the factors that may disrupt our results regarding the OAE test. MethodsA cross-sectional study included infants who were admitted to the nursery unit alone. Infants who were admitted to the NICU unit, infants with craniofacial anomalies, infants with vernix in the external auditory canal, and Infants with Stigmata associated with a syndrome known to include a sensorineural hearing loss were excluded from the study. Both transient evoked otoacoustic emissions (TEOAE) with distortion product otoacoustic emissions (DPOAE) Screening tests were performed by the same professional audiologist experienced in neonatal screening. ResultsA total of 1413 newborns (733 males and 680 females) were included in the study. Among them, 1368 babies (96.8%) passed the first OAE in both ears, while 45 babies (3.2%) didn't pass the first OAE in one or both ears.Significant correlations between the female gender and family history of congenital hearing loss with failure of the first OAE test results. Moreover, vaginal delivery (VD) infants had a 1.5-fold higher failure rates of first OAE test screening results in comparison to caesarian delivery (CD) infants. ConclusionOur study demonstrated higher failure rates of the first OAE in female infants, vaginal delivery infants, and infants with a family history of hearing impairment. It is recommended to postpone the first phase of hearing screening for those infants until the first scheduled vaccine appointment to achieve higher compliance attendance, and decrease family stress associated with false-negative results of the test.

To the question of genetic predisposition to the development of professional sensorineural hearing loss

The 443 employees of Krasmash JSC, who have been working under conditions of increased noise for at least 1 year, were surveyed and examined. A hearing study was performed by speech and tonal audiometry. Tonal audiometry was carried out in accord with according to a standard method in the frequency range 125-8000 Hz. People with chronic hearing impairment, survivors of meningitis and family history of hearing impairment were excluded from the study. The allelic composition of the studied genes was determined in the remaining group of 288 workers (study group). Polymorphisms were detected using bioluminescent method, developed by the authors earlier. The study group comprised 122 people with hearing impairment (experimental group) and 166 people without impairment (control group). The genotyping results of on allelic variants rs494024 (CAT), rs7598759 (NCL), rs2227956 (HSPA1L), rs7095441 (PCDH15) and rs7785846 (PON2) showed that their frequencies in the study group did not differ and were comparable with those for the European population. No statistically significant differences were revealed in the distribution of the genotypes of the studied mutations between the experimental and control groups. Also no statistically significant associations we found between hearing impairment and availability of two or several SNPs, or these SNPs and clinical characteristics of the disease (degree of hearing impairment, tinnitus). In the group of workers with an experience of 5 to 16 years, an association was found for hearing impairment and SNP rs494024, as well as when it is combined with rs7598759. The associations between SNP rs7598759, rs2227956, and rs7095441 and hearing impairment were not found. In the group of workers with 5-16 year experience, this association was found for SNP rs494024, as well as when it is combined with rs7598759. Discovered associations require further study.

Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.

Mutations in mitochondrial DNA, especially in 12S rRNA gene, are the most important causes for hearing loss. In particular, the A1555G and C1494T mutations have been found to be associated with both aminoglycoside-induced and non-syndromic hearing loss in many families worldwide. To determine the frequency of C1494T mutation in deaf patients, in the current study, we screened this mutation in 655 patients with non-syndromic hearing loss and 300 control subjects. After PCR amplification of mitochondrial 12S rRNA gene and direct sequence analysis, we found that there were 2 patients carrying the C1494T mutation; however, this mutation was not detected in 300 healthy subjects. Further genetic counseling suggested that only 1 patient had an obvious family history of hearing impairment. Clinical evaluation showed that 3 of 10 matrilineal relatives suffered from hearing loss, with different age at onset of hearing loss. Molecular analysis revealed the presence of homoplasmic 12S rRNA C1494T and ND5 T12338C mutations, together with a set of polymorphisms belonging to human mitochondrial haplogroup F2. Interestingly, T12338C mutation resulted in the replacement of the first amino acid, a translation-initiating methionine with a threonine, shortening 2 amino acids of ND5 polypeptide. Moreover, this mutation is located in 2 nucleotides adjacent to the 3’ end of the mt-tRNALeu(CUN) gene. Therefore, this mutation may alter ND5 mRNA metabolism and the processing of RNA precursors. Thus, the combination of T12338C and C1494T mutations may contribute to deafness expression in this family. Taken together, our data suggested that the C1494T mutation was the molecular basis for hearing loss, screening for the mitochondrial DNA pathogenic mutations was recommended for early detection, prevention, and diagnosis of mitochondrial deafness.

Analysis of mitochondrial A1555G mutation in infants with hearing impairment.

Mutations in the mitochondrial 12S ribosomal RNA gene have been identified to be associated with deafness. Among these, the A to G transition at position 1555 is one of the most common pathogenic mutations associated with hearing loss. In order to evaluate the allele frequency of this mutation in infants with hearing loss, the A1555G mutation was screened in 300 deaf children and 100 age- and sex-matched healthy subjects. Consequently, 5 patients with this mutation were identified, whereas the mutation was absent in healthy controls. Among the patients with the mutation, only one had an obvious family history of hearing impairment. Notably, this pedigree manifested a high penetrance of deafness. In particular, the penetrance of deafness was 80 and 40%, when the aminoglycoside antibiotics (AmAn) was included or excluded, respectively. Clinical evaluation of this family exhibited a wide degree of hearing loss. Furthermore, screening for the complete mitochondrial genes revealed the occurrence of A1555G and transfer (t)RNAThr T15943C mutations, together with other genetic variations belonging to East Asian haplogroup C. Notably, the T15943C mutation, located at the T arm of tRNAThr, could disrupt the 63T-55A base-pairing and impair tRNA metabolism. Therefore, it was hypothesized that the combination of A1555G and T15943C mutations may result in mitochondrial dysfunction that is responsible for deafness. Screening for A1555G, as well as other potential pathogenic mutations in the mitochondrial genome, is critical for clinical diagnosis and prevention of hearing impairment.

Consanguinity and hearing impairment in a deaf school

Objective: To find out the frequency of consanguinity and positive family history of hearing impairment among deaf children in a deaf school in Bangladesh. Methods: This was a retrospective study were included 150 patients. They were subjected to complete audiological examinations. These pupils were collected from Integrated Pre-school for Hearing Impaired children (IPSHIC) of SAHIC, Mohakhali, Dhaka, Bangladesh. Results: The results showed that out of 150 Hearing impaired (HI ) children 30.0% (45) were from the consanguineous parents and 70.0% (105) from non- consanguineous parents. Also found 22.0% (33) had positive family history of hearing impairment. Conclusion: Prevention is only means to reduce the prevalence of Congenital hearing impairment. DOI: http://dx.doi.org/10.3329/bjo.v20i2.22020 Bangladesh J Otorhinolaryngol; October 2014; 20(2): 60-65

Assessment of the Ototoxic Effects of Amikacin and Meropenem among Neonates in a Tertiary Government Hospital

Objective: Using pre and post-treatment otoacoustic emission (OAE) tests, this study aimed to assess the ototoxic effect of meropenem, amikacin and meropenem plus amikacin among neonates treated for sepsis neonatorum in a neonatal intensive care unit versus untreated outpatient controls.&#x0D; Methods:&#x0D; Study design: Prospective Quasi-Experimental Controlled Clinical Trial&#x0D; Setting: Tertiary Government Hospital&#x0D; Subjects: Neonates treated for sepsis neonatorum in the Neonatal Intensive Care Unit between August to October 2012 who met inclusion criteria were included in this study. Controls were neonates born in the same institution who were not admitted and did not receive any antibiotic treatment. Excluded were those with APGAR &lt; 5 at first minute, birth weight &lt; 1000 grams, clinically evident congenital anomalies, and initial “refer” results on OAE.&#x0D; Neonates were subjected to OAE testing before and after 7 days treatment with amikacin, meropenem, or a combination of both drugs. Results were analysed using chi-square test. Maternal drug intake, family history of hearing impairment and clinical outcomes (whether expired or discharged improved) were not included in this study. Assessment of ototoxic effects were limited to OAE alone and not confirmed by ABR.&#x0D; &#x0D; Results: OAE “refer” rates were as follows: no amikacin and no meropenem, 0% (0/42); amikacin only, 33.3% (3/9); meropenem only, 25% (2/8) and amikacin and meropenem, 50% (10/20). Statistical analysis showed that hearing loss was dependent on treatment (c2 =23.741, p = &lt; 0.001). Overall, statistical analysis showed that there is an increased risk of hearing loss when treated with amikacin and/or meropenem as compared to no treatment.&#x0D; &#x0D; Conclusion: There is an increased risk of ototoxicity when amikacin, meropenem, or a combination of both drugs is administered to neonates. While the ototoxic effects of amikacin have been elucidated, further studies involving meropenem and its potential ototoxic effect are recommended.&#x0D; &#x0D; Keywords: ototoxicity, amikacin, meropenem, otoacoustic emission testing, neonatal hearing loss&#x0D;

Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview

The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.024, respectively). High SNHL percentages were evidenced also in NICU babies, due to the various pathologies and risk factors presented by these infants, and among newborns who suffered from hyperbilirubinemia (11.97 and 9.52 %, respectively). The mean degree of hearing loss for children with family history of HI (>100 dB HL) emphasizes the necessity of an early diagnosis to avoid the consequences of auditory deprivation. Craniofacial abnormalities and syndromes associated to HI showed an important relationship (P < 0.00001) with conductive hearing loss. A progressive increase was evidenced in SNHL incidence as the number of risk factors rises (from 5.12 for 2 risk factors to 28.5 % for 5 or more) with a significant difference among the groups (P = 0.049); multiple risk factors showed an additional cofactor for HL (r (2) = 0.93). Considering the high SNHL prevalence (10.03 %) in infants at risk, this study highlights the necessity to implement a neonatal hearing screening program in Western Sicily.

Prelingual sensorineural hearing loss and infants at risk: Western Sicily report

ObjectiveTo evaluate independent etiologic factor associated with sensorineural hearing loss (SNHL) in newborn at risk; to study the role of their interaction especially in NICU infants who present often multiple risk factors for SNHL. MethodsThe main risk factors for SNHL reported by JCIH 2007 were evaluated on 508 infant at risk ranging from 4 to 20 weeks of life, transferred to the Audiology Department of Palermo from the main births centers of Western Sicily. After a global audiological assessment, performed with TEOAE, tympanometry and ABR, the prevalence and the effect of risk factors was statistically studied through univariate and multivariate analysis on the total population (normal and deaf subjects). ResultsFifty-one infants (10.03%) were diagnosed with SNHL (45 bilateral and 6 monolateral) with a mean hearing threshold of 87.39±28.25dB HL; from logistic regression analysis family history of hearing impairment (HI) and TORCH infections resulted independent significant risk factors (P<0.00001 and P=0.024 respectively). High SNHL percentages were evidenced also in NICU babies, due to the various pathologies and risk factors presented by these infants, and among newborns who suffered from hyperbilirubinemia requiring exchange transfusion (11.97% and 9.52% respectively). Craniofacial abnormalities (CFA) and syndromes associated to HI showed an important relationship (P<0.00001) with conductive hearing loss (CHL). Multiple regression analysis of the variation in SNHL among NICU infants evidenced an increased risk for SNHL of 21.24% and of 19.33% respectively in preterm infants and in case of hyperbilirubinemia if respiratory distress is concomitant with these risk factors. It was also observed an higher risk of SNHL (99.66%) in case of coexistence of prematurity and hyperbilirubinemia. Finally among infants with very low birth weight (VLBW) it was evidenced a statistically difference between the mean weight of SNHL infants respect to NHL newborns (P=0.048). ConclusionThe high SNHL prevalence (10.03%) in our cohort underlines how infants at risk are more susceptible to suffer from SNHL; in particular NICU newborns have a 33% greater chance of developing SNHL, because of the presence of multiple risk factors (or=1.33) and their interaction. As the number of coexisting risk factors increases, the prevalence of SNHL also increases (r2=0.93).

Association of family history and consanguinity with permanent hearing impairment

Background: Risk factors for hearing impairment can offer important information for both the family and health-care providers regarding etiology, other associated health problems, and risk of recurrence in sub-sequent pregnancy. Family history and consanguinity indicates the possible involvement of genetic factors. Objective: The aim of the study is to find the strength of association of family history and consanguinity with permanent hearing impairment in infants. Materials and Methods: A case-control study was designed on 420 infants with permanent hearing impairment and normal hearing from the year 2008 to 2012. The case control ratio was 1:1. Alternate sampling method was used in a hospital for selecting the control group. Parent interview was carried out to collect the information of family history of hearing impairment and consanguineous marriage. Results: Family history and consanguinity was seen in 18.6% and 39.5% of the hearing-impaired group. These factors were associated with hearing impairment with a high significance (odds ratio (OR) 6.5; 95% Confidence interval (CI) 2.8, 15.1; P = 0.000 and OR: 2.7; 95% CI 1.9-3.9; P = 0.000). The combination of risk-factors is seen in 10% of the hearing-impaired group, whereas only 0.5% had it in the control group. Conclusion: Family history and consanguinity seems to be an important risk factor of hearing impairment both in isolation and in combination.

Role of the Mitochondrial Mutations, m.827A&gt;G and the Novel m.7462C&gt;T, in the Origin of Hearing Loss

Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m.1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m.827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m.7472insC mutation and three probands presented a novel variant, m.7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation.

Hearing impairment and poverty: The epidemiology of ear disease in Peruvian schoolchildren

Objectives 1) To measure prevalence of hearing impairment (HI) in schoolchildren living in poverty in Peru. 2) To identify risk factors for HI and assess its impact on academic performance. Study Design Cross-sectional. Setting Elementary schools in an asentimiento humano (shantytown) near Lima, Peru, October 2008 to March 2009. Subjects Schoolchildren (n = 335), ages six to 19 years. Methods Audiological health was assessed with pure-tone audiometry, tympanometry, and otoscopy. The primary outcome was HI, defined as average threshold >25 dB HL for 0.5, 1, 2, and 4 kHz, in one or both ears (per World Health Organization/International Organization for Standardization). A questionnaire on health history was administered to parents. Statistical analysis included univariate analysis for χ 2 values and odds ratios (ORs), and multivariate logistic regression. Results HI prevalence: 6.9 percent (95% confidence interval [CI] 4.2%-9.6%). Risk factors for HI (OR, 95% CI, P value): neonatal jaundice (5.59, 1.63-19.2, 0.015), seizure (7.31, 2.50-21.4, 0.0013), hospitalization (4.01, 1.66-9.68, 0.003), recurrent otitis media (5.06, 1.98-12.9, 0.002), past otorrhea (4.70, 1.84-12.0, 0.003), family history of HI at <35 years (2.91, 1.19-7.14, 0.026), tympanic membrane abnormality (13.8, 4.48-42.7, <0.001), cerumen impaction (15.8, 4.71-53.1, <0.001), and eustachian tube dysfunction (4.87, 1.74-13.7, <0.001). HI was an independent predictor of academic failure (3.36, 1.15-9.82, 0.03). Conclusions Impoverished Peruvian schoolchildren were four to seven times more likely to experience HI than children living in higher-income countries. Untreated middle ear disease in the context of limited access to pediatric care was a major risk factor for HI. Furthermore, HI was associated with worse scholastic achievement. These results support prioritization of pediatric ear health as an essential component of the global health agenda, especially in resource-poor countries.

Polish Universal Neonatal Hearing Screening Program—4-year experience (2003–2006)

The aim of this paper is to share our experience and observations in running the Universal Neonatal Hearing Screening Program on a national level, present results and indicate some problems that have arisen during these 4 years. Polish Universal Neonatal Hearing Screening Program started back in 2002 in all neonatal units in Poland. Implemented testing methods consisted of test of transient evoked otoacoustic emission (TEOAE) performed in all new born children in their first 2-3 days of life and auditory brainstem response testing (ABR) conducted on children, who did not meet the TEOAE pass criteria. Additional questionnaire registered information on ototoxic drugs and family history of hearing impairment in every newborn. Diagnosed children were further referred for treatment and rehabilitation. After 4 years of running the program (between 2003 and 2006) a total number of 1,392,427 children were screened for hearing impairment, what stands for 96.3% of all delivered babies, registered in Poland. The screening program enabled to identify and refer for further treatment 2485 children with various types of hearing loss, 312 with profound (0.02% of population) and 145 with severe sensorineural hearing loss (0.11% of population). Our results indicate the accuracy of newborn hearing screening which remain an issue. Although improvement is needed in both intervention systems and diagnostic follow-up of hospitals, the Polish Universal Neonatal Hearing Program fully has achieved the main goal, the identification and treatment of hearing impaired children.

Reconhecimento verbal de lactentes com fissura labiopalatina com e sem história de indicadores de risco para a audição

Os primeiros dois anos de vida são críticos para a aquisição e desenvolvimento de habilidades auditivas e linguagem. OBJETIVO: Verificar o desempenho de lactentes com fissura labiopalatina (FLP) com e sem indicadores de risco à audição (IRA) no teste de reconhecimento verbal (TRV). Estudo prospectivo. MATERIAL E MÉTODOS: Pais de 100 lactentes (9 a 18 meses) com FLP foram entrevistados para verificar a presença de IRA e à constituição dos grupos em estudo. Todos os lactentes foram submetidos ao TRV. Resultados: Doenças otológicas, não-amamentação natural, tabagismo dos pais, insuficiência das vias aéreas superiores, permanência na incubadora e antecedentes com surdez foram os IRA mais freqüentes. 85 lactentes apresentaram IRA e 40% deles TRV alterado. 15 não apresentaram IRA e 73% apresentaram desempenho no TRV esperado para a sua idade. Não foi encontrada significância (p=0,326) entre os grupos. 54 lactentes apresentaram história de otite média (OM) e 31% deles tiveram alteração no TRV. 46 não apresentaram OM e apresentaram desempenho no TRV esperado para a sua idade. Encontrada diferença significativa (p=0,000). CONCLUSÃO: Identificou-se a presença de outros IRA além FLP. O desempenho dos lactentes com e sem histórico de IRA não diferiu no TRV. A presença de doenças otológicas interferiu significativamente no TRV.

Verbal recognition of infants with cleft lip and palate with and without history of risk indicators for hearing loss

SummaryThe first two years of life are critical for the acquisition and development of hearing and speaking skills.AimThis prospective study aims to verify the performance of infants with cleft lip and palate (CLP) with and without risk factors for hearing (RFH) in the verbal recognition test (VRT).Materials And MethodThe parents of 100 infants (9 to 18 months of age) with CLP were interviewed to investigate the presence of RFH and to sort out the characteristics of the study groups. All infants underwent VRT.ResultsOtologic diseases, lack of breastfeeding, parental smoking, upper airway insufficiency, stay in an incubator, and family history of hearing impairment were the most frequent RFH. Eighty-five infants had RFH, among which 40% had altered VRT results; fifteen did not have any RFH and 73% performed as expected for their age range in the VRT. There was no significant difference (p=0.326) between groups. Fifty-four infants had history of otitis media (OM), among which 31% had altered VRT results; forty-six had no history of OM and performed as expected for their age range in the VRT; Statistically significant difference (p=0.000) was found.ConclusionOther risk factors for hearing aside CLP were found. Infants with and without history of RFH performed similarly in the VRT. The presence of otologic diseases significantly interfered with the VRT.

Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A &gt; G mutation in young adult diabetic subjects in Sri Lanka

The maternally inherited mt3243A > G mutation is associated with a variable clinical phenotype including diabetes and deafness (MIDD). We aimed to determine the prevalence and clinical characteristics of MIDD in a large South Asian cohort of young adult-onset diabetic patients from Sri Lanka. DNA was available from 994 subjects (age of diagnosis 16-40 years, age at recruitment < or = 45 years). Mutation screening was performed using a QRT-PCR method on an ABI 7900HT system using sequence-specific probes. Samples with heteroplasm > or = 5.0% were considered positive. Nine (four males) mutation-positive subjects were identified (prevalence 0.9%). They were diagnosed at a younger age (25.9 +/- 4.8 years vs. 31.9 +/- 5.6 years, P = 0.002) and were lean (body mass index [BMI] 18.7 +/- 2.7 kg/m(2) vs. 24.7 +/- 4.0 kg/m(2), P < 0.001) compared to NMCs. One mutation-positive subject (11.1%) had metabolic syndrome, compared to 633 (64.3%) of NMCs. Insulin therapy within 6 months of diagnosis was used in four (44.0%) carriers compared to 6.9% of NMCs (P = 0.002). Combined screening criteria of any two of maternal history of diabetes, personal history of hearing impairment and family history of hearing impairment only identified five (55%) of the carriers, with a positive predictive value of 7.4%. The prevalence of mt3243A > G mutation among young adult-onset diabetic subjects from Sri Lanka was 0.9%. Our study demonstrates that a maternal family history of diabetes and either a personal and/or family history of deafness only distinguish half of patients with MIDD from Sri Lankan subjects with young-onset diabetes.

The impact of a family history of hearing problems on those with hearing difficulties themselves: an exploratory studyEl impacto de la historia familiar de problemas auditivos en quienes tienen problemas auditivos: un estudio exploratorio

The objective of the study was to investigate the effects of a family history of hearing impairment on those people with the hearing impairment themselves. The subjects were 102 consecutive patients with a family history of hearing impairment, seen in an audiological rehabilitation clinic. Each was given an open-ended questionnaire asking whether such a family history had any effects on them and, if so, to list any effects. Results were qualitatively analysed. 57 subjects indicated effects. Of those listed, 57% were positive, 19% negative, and 24% neutral. The most common positive effects concerned realising the importance of hearing aids and early help-seeking. Common negative effects were concern for the future of themselves and their children. Neutral effects were a reported ignorance or denial of a family history. The results emphasize the importance of asking patients about any family history when planning their rehabilitative programme.