Mutations in & genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.

Background & Objectives: A high incidence of hearing impairment is reported from the village of Dhadkai in the State of Jammu and Kashmir, India. Prevalence of endogamy in this community suggested a common genetic basis for the disorder. A genetic study was undertaken to ascertain the basis for the high incidence of hearing impairment in this region.

Treatment of Tinnitus: A Scoping Review.

Background: Tinnitus is a perception of an auditory sensation without the presence of an external sound. It has devastating impact on the quality of life and psychosocial aspect of the sufferer. Mechanisms of tinnitus not clear; however, its management include counselling, hearing aids, tinnitus masking, relaxation therapy, cognitive behaviour therapy and tinnitus retraining therapy.

Auditory System Synchronization and Cochlear Function in Patients with Normal Hearing With Tinnitus: Comparison of Multiple Feature with Longer Duration and Single Feature with Shorter Duration Tinnitus.

Objective: To observe cochlear and brainstem function in normal hearing ears with tinnitus using DPOAE and ABR audiometry.

Design: Case-control study.

Sample Size: Included 60 normal hearing male patients with age less than 45 years; control group consisted of 30 patients without tinnitus and the study group consisted of those with unilateral tinnitus of at least 6 month duration.

Cross-modal plasticity in the deaf enhances processing of masked stimuli in the visual modality.

Compensatory changes as a result of auditory deprivation in the deaf lead to higher visual processing skills. In two experiments, we explored if such brain plasticity in the deaf modulates processing of masked stimuli in the visual modality. Deaf and normal-hearing participants responded to targets either voluntarily or by instruction.

Construction of Hindi Speech Stimuli for Eliciting Auditory Brainstem Responses.

Speech-evoked auditory brainstem responses (spABRs) provide considerable information of clinical relevance to describe auditory processing of complex stimuli at the sub cortical level. The substantial research data have suggested faithful representation of temporal and spectral characteristics of speech sounds. However, the spABR are known to be affected by acoustic properties of speech, language experiences and training.

Spatial gradients of oculomotor inhibition of return in deaf and normal adults.

We explored the effect of deafness on the spatial (gradient) and temporal (decay) properties of oculomotor inhibition of return (IOR) using a task developed by Vaughan (Theoretical and applied aspects of eye movement research. Elsevier, North Holland, pp 143-150, 1984) in which participants made a sequence of saccades to carefully placed targets . Unlike IOR tasks in which ignored cues are used to explore the aftereffects of covert orienting, this task better approximates real-world behavior in which participants are free to make eye movements to potentially relevant inputs.

Qualitative Assessment of Speech Perception Performance of Early and Late Cochlear Implantees.

The present study aims to provide a qualitative description and comparison of speech perception performance using model based tests like multisyllabic lexical neighborhood test (MLNT) and lexical neighborhood test (LNT), in early and late implanted (prelingual) hearing impaired children using cochlear implants. The subjects comprised of cochlear implantees; Group I (early implantees)-n = 15, 3-6 years of age; mean age at implantation-3½ years. Group II (late implantees)-n = 15, 7-13 years of age; mean age at implantation-5 years.

The role of auditory and kinaesthetic feedback mechanisms on phonatory stability in children.

Auditory feedback plays an important role in phonatory control. When auditory feedback is disrupted, various changes are observed in vocal motor control. Vocal intensity and fundamental frequency (F0) levels tend to increase in response to auditory masking.

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE.

Language regression in children with Autism Spectrum Disorders.

Objectives: Regression in autism applies to the phenomenon of apparently normal early development followed by the loss of previously acquired skills and manifestation of symptoms of autism. Estimates of the frequency of regression in autism range from 10% to 50%. Although there are tools available to evaluate and diagnose Autism Spectrum Disorders, however, there is no published tool available in Indian context to identify the children with ASD at an early age.

Nature and onset of communication disorder in pediatrics with HIV.

American Speech-Language Association (ASHA) and the International Association of Physicians in AIDS Care (IAPAC) reported that speech-language and hearing disorders that occur as a direct or indirect consequence of HIV-infection are so common. However there has been little research into the nature and onset of such communication disorders in children living with HIV. Therefore the purpose of the study is to understand about the nature and onset of audiological and speech-language disorders of a group of children with HIV for the better management.

Status of newborn hearing screening program in India.

Objectives: The present study is aimed at figuring out the status of new-born hearing screening program being conducted in India, estimate the use of different screening instruments used and tests practiced, study the role of various professionals involved and document the current practices of audiologists in the country.

Method: A questionnaire on "Newborn Hearing Screening Survey" was sent to 185 institutions (165 medical colleges and 20 Speech and hearing centers) all over India and the information gathered was subjected to appropriate analyses.

Results: On a 16.

Hearing screening outcomes for persons with intellectual disability: a preliminary report of findings from the 2005 Special Olympics World Winter Games.

The Special Olympics Healthy Hearing Program provides a unique opportunity to determine the hearing service needs of individuals with mild intellectual disabilities participating in athletic endeavors in countries throughout the world. The Healthy Hearing Program screened 855 of 1800 athletes with intellectual disability over a period of a week at Nagano, Japan. Of 855 athletes screened, 58% passed the DPOAE screen and therefore required no further testing.

Is hearing loss due to mutations in the Connexin 26 gene progressive?

Serial audiograms were analysed for seven subjects, who were homozygous for the 35delG GJB2 mutation. The criterion for determining progression of hearing loss was at least a 1-dB loss in air conduction pure-tone average-3 (ACPTA-3) or ACPTA-4 per year for 2 to 10 years, with a minimum change of 10 dB ACPTA 3 or 4. Bilateral progression of hearing loss was found in 43% (3/7) of the subjects.

Audiological findings in cleft palate patients attending speech camp.

Background & Objective: Hearing impairment is one of the associated problems seen particularly in children with cleft palate rather than cleft lip alone. This has received very little attention in the area of cleft care although research shows that hearing impairment affects language development The present study was carried not to find out the type and pattern of audiogram in cases attending a speech camp, average degree of hearing loss and its relation to the side of cleft, and the acoustic immittance findings and its relation to the otological evaluation. The parental awareness about the hearing problem was also assessed.

Implications in disclosing auditory genetic mutation to a family: a case study.

The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations).

Nasalance measures in Marathi consonant-vowel-consonant syllables with pressure consonants produced by children with and without cleft lip and palate.

Objective: The purpose of this study was to ascertain whether there exist differential nasalance measures for consonant-vowel-consonant syllables consisting of different pressure consonants articulated by Marathi-speaking children with and without repaired cleft lip and palate.

Participants: Ten Marathi-speaking children with repaired cleft palate between the ages of 5 and 12 years formed the experimental group. The control group consisted of 10 age- and sex-matched children with no clefts and no history of any hearing, speech, or voice disorder.

High risk register--an economical tool for early identification of hearing loss.

Deafness needs to be dignified nearly as its adverse effects increase with the degree and age of onset. The high risk register helps to alert the professional to suspect the presence of this hidden handicap. Histories of 281 hearing impaired children and 158 normal children was collected and analysed.