Transcutaneous Baha Attract system: Long-term outcomes of the French multicenter study.

BACKGROUND: Bone conduction implants based on abutment-driven acoustic transmission result in good hearing outcomes; however, skin complications impact the quality of life (QOL) and possibly the viability of the device for many patients. The transcutaneous magnetic Baha® Attract technology was developed with the goal of minimising skin complications. OBJECTIVES: To analyse surgical, auditory and QOL outcomes for patients implanted with the Baha® Attract. DESIGN: Prospective multicentre cohort study. SETTING: Four French tertiary referral centres. PARTICIPANTS: Thirty-two patients implanted with the Baha® Attract, including 25 with conductive and mixed hearing loss and 7 with single-sided deafness. MAIN OUTCOME MEASURES: Postoperative follow-up involved the visual analysis of soft tissue adaptation and sound processor magnet strength measurement. The audiometric outcomes were evaluated in quiet and noise, and the QOL was assessed using three different questionnaires. RESULTS: After 12 months of use, soft tissue was thinner, and mean magnet strength was significantly decreased (3.7-3.1, P < 0.05) relative to measures during surgery. The speech recognition threshold in quiet significantly improved compared to unaided situation (73-44 dB HL respectively, P < 0.001) as did functional gain in noise (+2.8). All QOL scores improved, and the APHAB questionnaire score correlated with the audiometric outcomes. CONCLUSIONS: The Baha® Attract technology results in significant hearing gain and improves QOL. Skin complications were not observed, although surgeons, audiologists and patients should be aware of soft tissue evolution during the first postoperative year. The reversibility of this implant is a major advantage that allows switching to another system if hearing degrades.

Newborn hearing screening on infants at risk.

OBJECTIVES: This article presents the results of newborn hearing screenings on infants at risk of hearing impairment at the French University Hospital of Besançon from 2001 to 2007. MATERIALS AND METHODS: All newborns at risk of hearing impairment were tested according to the method recommended by the Joint Committee on Infant Hearing (JCIH): a two-step automated oto-acoustic emissions (AOAE) program, completed by an auditory brainstem response (ABR) for the positive diagnosis of hearing impairment. The screening started with AOAE on the third day of life, at the earliest. If one or both ears did not have AOAE, the infant was re-tested at which time, should the AOAE again be positive, ABR was performed. When the ABR threshold was 40dB or more, the infant was referred to an audiologist specialized in infant deafness for diagnosis confirmation and management. RESULTS: Over the period, 1461 infants were screened, among whom 4.55% were diagnosed as deaf or hard of hearing. Nearly 10% of the infants were lost to follow up. Forty-six children had a sensorineural hearing impairment, of which 34 were bilateral and were managed before the age of 6 months. The risk factors for sensorineural hearing loss were (in order of statistical significance): severe birth asphyxia; neurological disorder; syndromes known to be associated with hearing loss; TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes) infections; family history of deafness; age at the time of screening; and the association of 2 or more risk factors. However, birth weight inferior to 1500g and premature birth before the 34th week of pregnancy did not show a statistically significant influence on sensorineural hearing loss. Craniofacial anomalies (mostly cleft palate and ear aplasia) were a significant factor for conductive hearing loss. CONCLUSION: Our selected hearing screening on infants at risk allowed 60 deaf children access to early management. However, too many children were lost to follow up; which revealed that better information regarding risk of hearing loss must be provided to parents and paramedics and universal newborn screening needs to be performed. The most important result of this study is that in a population of hearing impaired children, with an impairment incidence close to what is commonly reported, the association of several risk factors proves to be a significant additional risk factor for hearing impairment.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

Mutations in the GJB2 gene encoding the gap junction protein connexin 26 are responsible for up to 30% of all cases of autosomal recessive nonsyndromic hearing impairment (HI) with prelingual onset in most populations. The corresponding locus DFNB1, located on chromosome 13q11-q12, is also affected by three distinct deletions. These deletions extended distally to GJB2, which remains intact. We report a novel large deletion in DFNB1 observed in a patient presenting profound prelingual HI. This deletion was observed in trans to a GJB2 mutated allele carrying the p.Val84Met (V84M) mutation and was shown to be associated with hearing loss. The deletion caused a false homozygosity of V84M in the proband. Quantification of alleles by quantitative fluorescent multiplex PCR (QFM-PCR) enabled us to study the breakpoints of the deletion. The deleted segment extended through at least 920kb and removed the three connexin genes GJA3, GJB2 and GJB6. The distal breakpoint inside intron 2 of CRYL1 gene differed from the breakpoints of the known DFNB1 deletions. This case highlights the importance of screening for large deletions in molecular studies of GJB2.