Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

Sensorineural hearing defect and goiter are common features of Pendred's syndrome. The clinical diagnosis of Pendred's syndrome remains difficult because of the lack of sensitivity and specificity of the thyroid signs. The identification of PDS as the causative gene allowed molecular screening and enabled a re-evaluation of the syndrome to identify potential diagnostic characteristics. This report presents the clinical and genotypic findings of 30 French families, for whom a diagnosis of Pendred's syndrome had been made. Twenty-seven families had at least one mutated allele. Twenty-eight different mutations were identified, 11 of which had never been previously reported. The main clinical characteristics were: early hearing loss, fluctuation in terms of during deafness evolution, and the presence of an enlarged vestibular aqueduct.

Long-term outcome of childhood hearing deficiency.

This report is based on the questionnaire responses of 95 young hearing-impaired adults (39 with moderate, 20 with severe and 36 with profound hearing loss) who were investigated in the department of paediatric audiology during childhood. Half of the individuals were educated in ordinary school (integration) and half in an institution for hearing-impaired children. Responses on social and professional insertion were compared with audiometric threshold and educational setting. Results indicate that both hearing level and educational environment influence current mode of communication and use of hearing aids. Familial factors also seem to have an influence. Oral communication is a poor predictor of employment, whereas professional qualifications enhance the chances of finding a job. Obtaining a non-professional degree appears to be unsuited for improving the employment rate of the hearing-impaired child.

[Audiological management of children with malformations of the ear]. / Prise en charge audiologique d'enfants porteurs de malformations de l'oreille.

All cases of malformation of the ear must undergo audiological assessment. Before the age of 6 months, evoked auditory potentials during natural sleep will give information on the threshold for the high frequencies in both ears, and will confirm that the inner ear is functioning. After the age of 6 to 7 months, subjective tests are used to demonstrate the bone conduction thresholds and sometimes (depending on the degree of cooperation of the child) 1 or 2 air conduction curves. When the malformation is unilateral, and the hearing is normal on the opposite side, regular follow-up is required. When the malformation is bilateral, or unilateral in conjunction with a sensorineural hearing loss in the opposite ear, the child must be treated as a deaf child, and provided with a hearing aid.

Modern diagnostic strategy for acoustic neuromas.

We have reviewed the most recent 120 cases of acoustic neuromas operated upon in Bordeaux, France. In so doing, we have defined the strategy required to reach an accurate diagnosis as essentially comprising three stages. The first of these is to understand that the presenting symptom complex may be typical with progressive unilateral hearing loss, tinnitus, etc., or atypical with sudden hearing loss (10%), recovering facial paralysis (3.3%) or a Menière's syndrome (3.3%). Included in the first stage of diagnosis are audiovestibular investigations. An absent stapedial reflex was noted in 41% of our cases and an abnormality in vestibular testing in 95% of cases tested. These findings would be clear indicators to proceed to the second stage of the diagnostic strategy. This second stage comprises electric response audiometry consisting of auditory brainstem response (ABR) testing and electrocochleography (ECochG) employed as a filter for determining which patients should proceed to the third stage of testing. A combination of ABR and ECochG provides the clinician with results of high sensitivity and specificity. The false-negative rate for combined results in our experience has been less than 1%. The final diagnostic stage is radiological imaging, in particular using magnetic resonance imaging (MRI) with gadolinium contrast as the modality of choice. MRI is superior to CAT scanning, especially in the diagnosis of stage I intracanalicular tumors.