Occurence of autism spectrum disorder in the hearing-impaired population: how to achieve earlier diagnosis

This paper discusses the incidence of hearing impaired children with Autism Spectrum Disorder and methods of diagnosis.

Difference limens for first formant frequencies of synthesized vowels in hearing-impaired listeners

This paper studies auditory-vowel perception abilities of the hearing impaired. The study investigated the relationship among the difference limen for first formant frequencies of synthesized vowels in severe and profoundly hearing-impaired listeners, degree of hearing low, and general auditory speech perception.

Development of a high-frequency hearing loss questionnaire for children

The "Pediatric Assessment of Hearing" questionnaire was developed to evaluate how children with high-frequency hearing loss perform in various listening conditions.

Quality of life measure for adolescents and children with hearing loss

The purpose of this investigation was to determine the impact of hearing loss on the quality of life of adolescents and children. Focus group sessions were held for parents and children or adolescents with hearing loss to discuss their perceptions. Quality of life questionnaires were developed for adolescents and children with hearing loss.

A limited scope of objectives for the education of parents of young hearing impaired children

This paper discusses objectives for educating parents of hearing impaired children.

Language behavior of the young hearing impaired child

This paper discusses a study of language development of hearing impaired children.

Comparison of written and spoken language from deaf and hearing children at five age levels

This dissertation compares oral and written language development in hearing and deaf children. The study applies grammatical, lexical and syntactical measures to describe and analyze the differences in language development in groups of hearing and orally-taught hearing-impaired children and to relate these findings to chronological age.

The effects of earmuffs and hearing impairment on word discrimination in noise

This paper discusses a study to determine selection of hearing protective devices to ensure optimum speech discrimination.

Evaluation of sentence perception of adults with hearing loss when using a video teleconferencing system

This study evaluate the speech perception of hearing-impaired adults (with varying degrees of deafness) when using a video teleconferencing system (an integrated service digital network).

Impact of captions on deaf and hearing perception of multimedia video clips

We investigate the impact of captions on deaf and hearing perception of multimedia video clips. We measure perception using a parameter called Quality of Perception (QoP), which encompasses not only a user's satisfaction with multimedia clips, but also his/her ability to perceive, synthesise and analyse the informational content of such presentations. By studying perceptual diversity, it is our aim to identify trends that will help future implementation of adaptive multimedia technologies. Results show that although hearing level has a significant affect on information assimilation, the effect of captions is not significant on the objective level of information assimilated. Deaf participants predict that captions significantly improve their level of information assimilation, although no significant objective improvement was measured. The level of enjoyment is unaffected by a participant’s level of hearing or use of captions.

Evaluation of directional microphone drift in digital hearing aids

The occurrence of directional microphone drift following hearing aid use has been infrequently examined. This study uses the front-to-side ratio to evaluate changes in directional microphone output from new behind-the-ear hearing aids and following approximately three months of hearing aid use. Results indicate no overall significant differences in the front-to-side ratio between initial and follow-up measurements.

The search of a genetic basis for noise-induced hearing loss (NIHL)

Background and aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to NIHL. Subjects and methods: The family history and genotypes were studied for candidate genes in 107 individuals with NIHL, 44 with other causes of hearing impairment and 104 controls. Mutations frequently found among deaf individuals were investigated (35delG, 167delT in GJB2, Delta(GJB6- D13S1830), Delta(GJB6- D13S1854) in GJB6 and A1555G in MT-RNR1 genes); allelic and genotypic frequencies were also determined at the SNP rs877098 in DFNB1, of deletions of GSTM1 and GSTT1 and sequence variants in both MTRNR1 and MTTS1 genes, as well as mitochondrial haplogroups. Results: When those with NIHL were compared with the control group, a significant increase was detected in the number of relatives affected by hearing impairment, of the genotype corresponding to the presence of both GSTM1 and GSTT1 enzymes and of cases with mitochondrial haplogroup L1. Conclusion: The findings suggest effects of familial history of hearing loss, of GSTT1 and GSTM1 enzymes and of mitochondrial haplogroup L1 on the risk of NIHL. This study also described novel sequence variants of MTRNR1 and MTTS1 genes.

Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness, Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. Methods: We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found. Results: Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect. The c.35delG in the GJB2 gene was the most frequent mutation (37/300; 12.4%), detected in 23% familial and 6.2% the sporadic cases. The second most frequent mutation (1%; 3/300) was the del(GJB6- D13S1830), always found associated with the c.35delG mutation. Nineteen different sequence variations were found in the GJB2 gene. In addition to the c.35delG mutation, nine known pathogenic alterations were detected 0 67delT, p.Trp24X, p.Val37lle, c.176_191del16, c.235delC, p.Leu90Pro, p.Arg127His, c.509insA, and p.Arg184Pro, Five substitutions had been previously considered benign polymorphisms: c.-15C>T, p.Val27lle, p.Met34hr, p.Ala40Ala, and p.Gly160Ser. Two previously reported Mutations of unknown pathogenicity were found (p.Lys168Arg, and c.684C>A), and two novel substitutions, p.Leu81Val (c.G241C) and p.Met195Val (c.A583G), both in heterozygosis without an accompanying mutation in the other allele. None of these latter four variants of undefined status was present in a sample of 100 hearing controls. Conclusions: The present study demonstrates that Mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil, thus justifying their screening in a routine basis. The diversity of variants in our sample reflects the ethnic heterogeneity of the Brazilian population.

The importance of retesting the hearing screening as an indicator of the real early hearing disorder

Early diagnosis of hearing loss minimizes its impact on child development. We studied factors that influence the effectiveness of screening programs. To investigate the relationship between gender, weight at birth, gestational age, risk factors for hearing loss, venue for newborn hearing screening and pass and fail results in the retest. Prospective cohort study was carried out in a tertiary referral hospital. The screening was performed in 565 newborns through transient evoked otoacoustic emissions in three admission units before hospital discharge and retest in the outpatient clinic. Gender, weight at birth, gestational age, presence of risk indicators for hearing loss and venue for newborn hearing screening were considered. Full-term infants comprised 86% of the cases, preterm 14%, and risk factors for hearing loss were identified in 11%. Considering the 165 newborns retested, only the venue for screening, Intermediate Care Unit, was related to fail result in the retest. Gender, weight at birth, gestational age and presence of risk factors for hearing loss were not related to pass and/or fail results in the retest. The screening performed in intermediate care units increases the chance of continued fail result in the Transient Otoacoustic Evoked Emissions test.

Quality of life in elderly adults before and after hearing aid fitting

Presbycusis is a common disorder in the elderly, which causes hearing loss and may contribute to the development of some psychiatric disorders, leading to isolation clue to communication difficulties in the social environment. Objective: To identify through the WHOQOL (World Health Organization Quality of Life Questionnaire), the quality of life of hearing impaired individuals before and after hearing aid fittings. Method: We had 30 individuals with hearing loss, all over 60 years of age - patients from a Speech Therapy Clinic. The patients answered the WHOQOL questions without the use of hearing aids; and after the effective use of a sound amplification device for a period of three months they answered it again. The WHOQOL - Bref consists of 26 questions, two general quality-of-life questions and 24 associated with four aspects: physical, psychological, environmental and social relations. Results: There was a significant improvement in quality of life in general, as far as leisure activities were concerned, there were no major changes regarding the frequency of negative feelings; even after the hearing aid fitting, the patients continue to have such feelings. Conclusion: The use of hearing aids favored the overall quality of life of the individuals evaluated.