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PubMed1998

[Etiological diagnosis of sensorineural deafness in children: a year-long review of genetic counseling for deaf people].

From February 1996 to January 1997, 74 patients from 53 sibships underwent genetic counselling for sensorineural deafness at the Pasteur Hospital, Paris, France. Genetic counselling was based on the etiological diagnosis of the hearing impairment, by an audiological and non-audiological examination program. At the first examination, 31 families presented with a familial deafness and 22 families with apparently one affected individual. However, familial audiological examinations revealed familial deafness in 5 of these 22 families. Consequently, a total of 36 families had hereditary hearing impairment and the etiological groups showed the following distribution: non-syndromic deafness (14 families), syndromic deafness (12 families), probable syndromic deafness (5 families), and incomplete assessment (5 families). Out of the remaining 17 families in which affected individuals were sporadic cases, the etiological groups were as follows: acquired deafness (2 families), probable syndromic deafness (5 families), unknown cause (5 families), and incomplete assessment (5 families). Etiological assessment is discussed, with reference to the cost-effectiveness of this examination program. In light of this preliminary report, we present a model of assessment for the etiological diagnosis of sensorineural deafness in children and young adults.

Adolescent↗
PubMed1986

A comparative study of mumps deafness and idiopathic profound sudden deafness.

We performed a 10-year comparative study on 95 cases (98 ears) of mumps deafness and 97 cases (97 ears) of profound sudden deafness and found the following results. The age of onset of deafness was less than 9 years in the majority of patients with mumps deafness, while it was frequently 30-50 years in those patients with sudden deafness. Among these latter patients, no cases occurred under 9 years of age. The incidence of tinnitus and vestibular symptoms was more frequent in the patients with sudden deafness, but no significant difference was noted in cases over 10 years of age. When determining prognosis, no cases of hearing improvement were encountered in mumps deafness, while about 70% of sudden deafness showed improvement.

Adolescent↗
PubMed1984

Respiratory behavior in groups of deaf and non-deaf GFF male mice.

Carbon dioxide emission (VCO2) of groups of 10 GFF mice, genetically deaf and non-deaf, were compared, in controlled conditions of temperature 20-21 degrees C, humidity 50-80% and light (LD12:12; L = 108 lux). A circadian rhythm of VCO2 was evidenced in both genotypes, with levels in D and in L significantly (0.001 less than p less than 0.01) greater in deaf than in non-deaf mice. Photic VCO2 variations were significantly (0.001 less than p less than 0.05) smaller at L----D and D----L in the deaf than in non-deaf genotype. Ultradian (tau greater than 20 minutes) rhythms were evidenced in both genotypes; Fourier periodic analysis showed several significant (0.001 less than p less than 0.05) differences between these 2 genotypes concerning mainly amplitudes, whilst spectral analysis showed slight frequency differences between them. Survival to an acute nitrogen hypoxia or to an acute carbon monoxide intoxication which was significantly (p less than 0.001 and p less than 0.05) lower in deaf than in non-deaf individuals confirms the differences in respiratory behavior of groups of these two strains of mice.

Acoustic Stimulation↗
PubMed1996

Deaf adults' attitudes toward career choices for deaf and hearing people in India.

This study investigated the expressed attitudes of deaf people in India toward career choices for deaf and hearing people. Deaf adults from Pune, India rated the suitability of 12 professions for deaf and hearing people and gave written comments on the suitability of any other professions they could list. The results, in general, were consistent with those of other studies in the United States, England, Italy, South Africa, and India with hearing teachers and parents of deaf children, which indicated that the hearing status of imagined deaf and hearing advisees selectively influenced attitudes toward the suitability of certain professions. Some differences in profession preferences also emerged indicating that the deaf respondents' criteria for career choice appeared to be primarily based on the use of hearing, speech, and visual skills required for a particular career. There was some suggestion that culturally specific factors played a role in shaping attitudes. These findings underscore the importance of understanding the attitudes of deaf people.

Adolescent↗
PubMedDate not supplied

Genetic testing for deafness--GJB2 and SLC26A4 as causes of deafness.

UNLABELLED: Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge will enhance patient care by making the diagnosis of hereditary deafness easier; however physicians and audiologists must clearly identify that subset of the deaf and hearing populations best served by this knowledge. It is also essential for physicians and audiologists to understand the limitations of genetic testing for deafness, and it is imperative that these limitations be appropriately explained to patients and their families. LEARNING OUTCOMES: The reader will be introduced to the concept of genetic testing for deafness. Two genes that make appreciable contributions to the autosomal recessive non-syndromic deafness (ARNSD) genetic load will be reviewed, GJB2 and SLC26A4. In addition, the unique aspects of genetic counseling for deafness and recurrence chance estimates are explained.

Carrier Proteins↗
PubMed2000

Etiology of deafness in Afyon school for the deaf in Turkey.

OBJECTIVE: Otolaryngologists play an important role in the evaluation of children with a hearing impairment. The group of unknown cause still has a high incidence. The purposes of this study were to determine the etiology of deafness in Afyon School for the Deaf in Turkey and to compare the results with the other studies from Turkey and other countries. METHODS: This study was a retrospective analysis of 130 deaf students, aged 5-16 years. Medical and family histories of the children were obtained. Clinical and laboratory examinations were carried out. RESULTS: Etiological groups showed the following distribution: febril convulsion, 26.9%; cause unknown, 26.1%; hereditary group, 23.8%; meningitis, 10%; measles, 6.1%; and miscellaneous, 6.6%. A total of 90.3% of the students with hereditary deafness were from consanguineous families. A marital consanguinity was noted in the parents of 64 (49.2%) of all children in the school and this rate was higher than the average in Turkey (P<0.05). Neither syndromic deafness nor maternal rubella was identified. A total of 27.6% of the cases were diagnosed after the age of 30 months. CONCLUSION: Febril convulsions and hereditary factors were the major causes of hearing loss in the present study. The high incidence of consanguineous marriage among the parents of the children with hereditary deafness seemed a strong evidence of genetic origin, indicating a close relationship between them. Congenital rubella syndrome did not appear as a significant etiology of deafness in Turkey.

Adolescent↗
PubMed1998

Aetiology of deafness among children at the Buguruni School for the Deaf in Dar es Salaam, Tanzania.

To identify the causes of deafness, 354 pupils attending the Buguruni School for the Deaf in Dar es Salaam, Tanzania, were studied. Of these children 205 were boys and 149 were girls, a sex ratio of 1.4:1. The onset of deafness was congenital in 36 (10.2%) and acquired in 318 (89.8%). Among the children with acquired deafness, the cause was unknown in 77 (24.2%); meningitis in 76 (23.9%), ototoxicity in 66 (20.8%), mumps in 53 (16.7%) febrile convulsions in five (1.5%), otitis media in 28 (8.8%) and measles in 13 (4.1%). Among the children with congenital deafness, only ten (27.8%) were identified before the age of 2 years. The findings indicate that most (75.8%) of the causes of acquired deafness are preventable through immunisation, early diagnosis and proper treatment of ear infections and avoidance of prescription of ototoxic drugs. This emphasizes the need for programmes aimed at improving the health services at primary levels of health care which will in turn prevent deafness.

Auditory Threshold↗
PubMed1986

Deafness following mumps: the possible pathogenesis and incidence of deafness.

Mumps is thought to be the most common cause of unilateral acquired sensorineural deafness in children. Mumps deafness is usually sudden in onset, profound or complete, and may be associated with vestibular symptoms. The authors' clinical survey of 55 patients with unilateral deafness which could reasonably be ascribed to mumps indicates that the hearing loss is exclusively unilateral, severe or total and permanent, and that approximately 45% of the patients experienced dysequilibrium of vestibular origin. An analysis of the present series of mumps deafness also suggests that the primary route of invasion of the virus is hematogenous, and thus the term "viral endolymphatic labyrinthitis" is proposed as the possible pathogenesis of the deafness, since both tympanogenic and meningogenic routes of viral invasion to the labyrinth can be excluded on the basis of the clinical and cerebrospinal fluid studies. This view of the pathogenesis, particularly that mumps meningitis is not associated with deafness, is supported by several reports including those of Vuori et al. (1962), Azimi et al., (1969), Lindsay (1973), Nadol (1978), etc. The incidence of deafness following mumps appears to be extremely low, approximately 1:20,000, as estimated by Everberg (1957).

Adolescent↗
PubMed1980

The nature of inherited deafness in deafness mice.

Many mouse mutants have an apparent deficiency in their responsiveness to sound. Most of these mutants have other abnormalities in addition to their hearing deficit, and the only two which have been subjected to a detailed anatomical and physiological study, shaker-1 and Ames waltzer, also have motor abnormalities. The existence of such motor abnormalities throws some doubt on the usefulness of these two mutants as possible models for hereditary deafness in man, which is most frequently uncomplicated. Deol and Kocher have described the deafness mutation in which mice homozygous for the recessive deafness gene (dn/dn) were unresponsive to sound and had no significant behavioural abnormality. Cochlear hair cells in deafness mice develop normally and then degenerate, and the adult animals are completely deaf. We have now studied deafness mice in order to determine the nature of their inherited deafness. Our data indicate that stimulus-related cochlear potentials do not develop even though hair cells are present in the young animal. The endocochlear potential is present in the scala media, but behaves abnormally during anoxia.

Action Potentials↗
PubMed2003

Negotiating deaf-hearing friendships: coping strategies of deaf boys and girls in mainstream schools.

BACKGROUND: Increasingly, deaf students are educated in mainstream school environments. This poses a question of how deaf children negotiate the demands of forming friendships with their hearing peers. The present study was designed to examine coping strategies of 35 deaf children attending full or partial mainstream school settings. METHOD: Using a qualitative analysis design, a range of coping strategies used by the children was described based on parents' reports. The relative success of these coping strategies in establishing relationships with hearing peers was assessed by examining strategies that increased the social success of deaf girls and boys. RESULTS: The results showed differences by gender in the effectiveness of coping strategies used by the participants. Deaf girls who were confident and frequently asked for clarifications or who were comfortable playing alone tended to achieve good relationships with hearing peers. In contrast, deaf boys' relationships with hearing peers benefited mostly from the boys' ability to perform well in sports. CONCLUSIONS: These findings are discussed in light of existing research on coping and current debates on the benefits of mainstreaming for deaf children.

Adaptation, Psychological↗
PubMed1992

[Hereditary unilateral deaf-mutism as a variable manifestation of bilateral deaf-mutism or hearing loss].

A total of 2,519 patients with bilateral severe congenital deafness (deaf-mutism) from Central Switzerland were recorded during the period between 1834 to 1979. More recently, 31 persons with unilateral severe deafness were examined. By constructing genealogical charts going back to the 17th century, at least ten of these unilaterally deaf persons were shown to be related to patients with bilateral deafness (pedigrees I-IV). Some of them exhibited a more or less marked Klein- Waardenburg syndrome. The unilateral deafness of those patients was inherited and not acquired. Congenital unilateral deafness may be understood to be the result of the broad variability of the expressivity of acoustic defects.

Deafness↗
PubMed1986

Incidence of congenital rubella syndrome in Japan (1965-1985). A nationwide survey of the number of deaf children with history of maternal rubella attending special schools for the deaf in Japan.

Accurate congenital rubella syndrome surveillance in Japan is of great interest because of the hypothesis that the Japanese rubella virus was less virulent than the strains prevalent in Europe and the Americas 20 years ago. A nationwide survey of deaf children with a history of maternal rubella in special schools for the deaf in Japan yielded a total of 365 deaf school children with congenital rubella syndrome born between 1963 and 1982. The overall average prevalence was 0.31 case per 100,000 population, and the incidence was 0.1-6.1 cases per 100,000 annual live births in Japan. If one considers the decrease in the number of deaf children attending special schools for the deaf because of the recent adoption of the policy of integrating deaf children into ordinary schools, the number of cases of congenital rubella syndrome might actually be much greater than that revealed by this survey and much greater than the 88 cases previously reported in Japan. Among the 365 cases who had deafness, 8.2% were found to have cataract (with and without congenital heart disease), and 11.0% were found to be complicated by congenital heart disease (but without cataract).

Cataract↗