The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

BACKGROUND: There is a lack of information on prevalence, cause and consequences of slight/mild bilateral sensorineural hearing loss (SNHL) in children. We report the first systematic genetic analysis of the GJB2 gene in a population-derived sample of children with slight/mild bilateral SNHL. METHODS: Hearing tests were conducted in 6240 Australian elementary school children in Grades 1 and 5. 55 children (0.88%) were found to have a slight/mild sensorineural hearing loss. 48 children with slight/mild sensorineural hearing loss and a matched group of 90 children with normal hearing participated in a genetic study investigating mutations in the GJB2 gene, coding for connexin 26, and the presence of the del(GJB6-D13S1830) and del(GJB6-D13S1854) deletions in the GJB6 gene, coding for connexin 30. RESULTS: Four of 48 children with slight/mild sensorineural hearing loss were homozygous for the GJB2 V37I change. The four children with homozygous V37I mutations were all of Asian background and analysis of SNPs in or near the GJB2 gene suggests that the V37I mutation arose from a single mutational event in the Asian population. DISCUSSION: Based on the prevalence of carriers of this change we conclude that V37I can be a causative mutation that is often associated with slight/mild sensorineural hearing loss. No other children in the slight/mild hearing loss group had a hearing loss related to a GJB2 mutation. One child with normal hearing was homozygous for the R127H change and we conclude that this change does not cause hearing loss. Two children of Asian background were carriers of the V37I mutation. Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background.

Hearing impairment: a population study of age at diagnosis, severity, and language outcomes at 7-8 years.

BACKGROUND: Better language outcomes are reported for preschool children with hearing impairment (HI) diagnosed very early, irrespective of severity. However, population studies of older children are required to substantiate longer term benefits of early detection. AIMS: To study impact of age of diagnosis and severity of HI in a population cohort of 7-8 year old children. METHODS: Eighty eight 7-8 year old children born in Victoria, who were (a) fitted with hearing aids for congenital HI by 4.5 years and (b) did not have intellectual or major physical disability were studied. Main outcome measures were Clinical Evaluation of Language Fundamentals (CELF) and Peabody Picture Vocabulary Test (PPVT). Predictors were pure tone average (0.5, 1, 2 kHz) in better ear at diagnosis and age at diagnosis. Marginal (adjusted) means were estimated with general linear models. RESULTS: Response rate was 67% (n = 89; 53 boys). Mean age at diagnosis was 21.6 months (SD 14.4); 21% had mild, 34% moderate, 21% severe, and 24% profound HI; mean non-verbal IQ was 104.6 (SD 16.7). Mean total CELF score was 76.7 (SD 21.4) and mean PPVT score 78.1 (SD 18.1). Age of diagnosis, adjusted for severity and IQ, did not contribute to language scores. In contrast, adjusted mean CELF and PPVT language scores fell sequentially with increasing severity of HI. CONCLUSIONS: More severe HI, but not later diagnosis, was strongly related to poorer language outcomes at 7-8 years. Further systematic study is needed to understand why children with hearing impairment have good or poor outcomes.

Structures underpinning pretend play and word production in young hearing children and children with hearing loss.

Relationships between pretend play and word production were investigated in 10 hearing (H) and 10 toddlers with hearing loss (D) who attended an auditory/oral early intervention program. All children were videotaped interacting in free play with their hearing primary caregiver at 28, 29, and 30 months of age. Group comparisons were made for the scores for highest and mean levels of pretend play and for the underlying structures of decontextualization, decentration, sequencing, and planning. Relationships with word production were then explored for the two groups separately. Results showed significantly higher levels of pretend play for all dimensions for the hearing children and an association between level of pretend play and word production for the children with hearing loss. Associations between word production and sequencing and planning were found for both groups of children. Word production was associated with decontextualization for the hearing children and with decentration for the children with hearing loss. We discuss theoretical implications of the findings together with implications for intervention with toddlers who have hearing loss.

The pragmatic skills of profoundly deaf children.

This study investigated the ability of normally hearing students and two groups of profoundly deaf students, one using oral and one using signed communication, to employ a series of pragmatic skills required for effective face-to-face interaction. Specifically considered were the ability of listeners to request clarification, the ability of speakers to respond to requests, and the strategies speakers use at times of communication breakdown. Differences were found between the two groups suggesting that the profoundly deaf students had difficulty consistently using appropriate, productive pragmatic behaviors in their face-to-face dyadic interactions.

Clinical findings for a group of infants and young children with auditory neuropathy.

OBJECTIVE: To examine the prevalence of auditory neuropathy in a group of infants at risk for hearing impairment and to present an overview of the clinical findings for affected children. DESIGN: Results for 20 subjects who showed repeatable cochlear microphonic potentials in the absence of click-evoked auditory brain stem responses are included in this study. Behavioral and steady state evoked potential thresholds were established in each case. Where possible, otoacoustic emission and speech perception results (unaided and aided) also were obtained. RESULTS: One in 433 (0.23%) of the children in our series had evidence of auditory neuropathy. The audiometric findings for these subjects varied significantly, with behavioral thresholds ranging from normal to profound levels. Discrimination skills were also variable. Approximately half of the subjects showed little understanding, or even awareness, of speech inputs in both the unaided and aided conditions. There were, however, a number of children who could score at significant levels on speech discrimination tasks and who benefited from the provision of amplification. CONCLUSION: The results suggest that auditory neuropathy is more common in the infant population than previously suspected. The effects of neuropathy on auditory function appear to be idiosyncratic, producing significant variations in both the detection and discrimination of auditory signals. As such, the management of children with this disorder must allow for individual differences.

Steady-state evoked potential and behavioral hearing thresholds in a group of children with absent click-evoked auditory brain stem response.

OBJECTIVE: 1) To examine the distribution of behavioral hearing thresholds in a group of children who had shown no click-evoked auditory brain stem response (ABR) at maximum presentation levels. 2) To describe the relationship between the 90 Hz steady-state evoked potential (SSEP) and behavioral thresholds in these subjects. DESIGN: A retrospective study based on clinical findings obtained from 108 infants and young children. Each of these children had shown no recordable ABR to clicks presented at maximum levels (100 dB nHL). SSEP audiograms were obtained using AM/FM tones at the octave frequencies 250 to 4000 Hz. The results of these evoked potential assessments were compared with hearing thresholds established behaviorally. RESULTS: Click-ABR assessment could not differentiate between the subjects in our sample with total hearing losses and those with useful residual hearing. Although some of the ears were anacusic, more than a quarter showed residual hearing at each of the audiometric frequencies. Furthermore, at least 10% of the behavioral thresholds at each frequency fell within the moderate/severe hearing loss range. A far closer relationship was observed between SSEP and hearing thresholds. On occasions where the SSEP was absent at maximum levels, 99.5% of the ears showed either a total loss or a behavioral threshold within 10 dB of that level. When an SSEP was obtained, the hearing threshold was typically within 5 dB of the SSEP threshold. CONCLUSION: The results suggested that in our group of selected subjects, the SSEP technique was able to assess ears with only minimal amounts of residual hearing. Where the brevity of the acoustic click limits both its frequency specificity and its presentation level, the modulated tones used for SSEP testing allow accurate, frequency-specific assessment at high presentation levels.

The automated prediction of hearing thresholds in sleeping subjects using auditory steady-state evoked potentials.

OBJECTIVE: To examine the relationship between auditory steady-state evoked potentials (SSEPs) and behavioral thresholds in sleeping subjects. DESIGN: 60 adults and children with hearing thresholds ranging from normal to profound were selected on the basis of appropriate audiograms. Behavioral audiograms were determined at the octave frequencies 250-4000 Hz. These behavioral thresholds were then compared with the SSEP thresholds obtained during natural sleep for adults, or natural or sedated sleep for children. RESULTS: A strong relationship between behavioral and SSEP thresholds was observed. The strength of the relationship increased with increasing frequency and increasing degree of the loss. On the basis of these data, the prediction of behavioral thresholds from SSEP levels was determined. It was found that the standard deviation of the error in this prediction decreased with increasing frequency and increasing degree of the loss. There was no significant age effect in the results obtained at any of the frequencies. CONCLUSION: The results suggest the SSEP technique can be used as a predictor of behavioral threshold in adults and children at the frequencies 250-4000 Hz.

Exaggerated hearing loss in noise induced hearing loss compensation claims in Victoria.

OBJECTIVE: To determine the incidence of exaggerated hearing loss in people claiming workers compensation for noise induced hearing loss, as well as the ability of a range of testers to detect this exaggeration. SUBJECTS: 333 people who claimed compensation for noise induced hearing loss between 13 September 1993 and 31 July 1994 in Victoria and who had undergone two independent subjective hearing tests. METHOD: The hearing test results and referral decisions made by testers were examined in the light of the results of a single objective hearing test (cortical evoked response audiometry). RESULTS: The incidence of exaggerated hearing loss was 17.7%. Testers performing the first subjective hearing test detected only 2.2% of claimants who exaggerated. The audiologist performing the second subjective test detected 94.2% of claimants who exaggerated. CONCLUSIONS: The high incidence of exaggerated hearing loss and the large difference in ability to detect this exaggeration by the two groups of testers demonstrate the need for appropriate test procedures to be followed and a second hearing test to be reintroduced. Without accurate testing, there will be overpayment for noise induced hearing loss claims.

Auditory steady-state evoked potential in newborns.

Steady-state evoked potential responses were recorded from 337 normal full-term sleeping newborns to combined amplitude and frequency modulated tones. Responses were automatically detected by statistical analysis of the response phase. Responses were most easily and consistently recorded at carrier frequencies of 500 Hz, 1500 Hz and 4000 Hz when the modulation frequency was between 60 Hz and 100 Hz. In this modulation frequency range, the response latencies were found to be between 11 ms and 15 ms, depending on carrier frequency, and the mean response thresholds for the three carrier frequencies were found to be 41.36 dB HL, 24.41 dB HL and 34.51 dB HL respectively. The results of this study suggest that steady-state evoked potentials at modulation rates in excess of 60 Hz may be useful for frequency specific, automated hearing screening in newborns.

Steady-state evoked potentials to amplitude modulated tones in the monkey.

A frequency-specific, objective assessment of hearing thresholds is required for use in subjects unable to perform behavioural audiometry. One such method using steady-state evoked potentials (SSEPs) in response to amplitude-modulated tones was evaluated in an experimental animal, the macaque monkey. An amplitude-modulation frequency of 165 Hz was found to produce optimum response detection in the anaesthetised animal. Auditory thresholds determined by a computerised automatic response detection system accurately reflected behavioural thresholds previously described in this species.

Cochlear implants in children, adolescents, and prelinguistically deafened adults: speech perception.

A group of 10 children, adolescents, and prelinguistically deafened adults were implanted with the 22-electrode cochlear implant (Cochlear Pty Ltd) at the University of Melbourne Cochlear Implant Clinic and have used the prosthesis for periods from 12 to 65 months. Postoperative performance on the majority of closed-set speech perception tests was significantly greater than chance, and significantly better than preoperative performance for all of the patients. Five of the children have achieved substantial scores on open-set speech tests using hearing without lipreading. Phoneme scores in monosyllabic words ranged from 30% to 72%; word scores in sentences ranged from 26% to 74%. Four of these 5 children were implanted during preadolescence (aged 5:5 to 10:2 years) and the fifth, who had a progressive loss, was implanted during adolescence (aged 14:8 years). The duration of profound deafness before implantation varied from 2 to 8 years. Improvements were also noted over postoperative data collection times for the younger children. The remaining 5 patients who did not demonstrate open-set recognition were implanted after a longer duration of profound deafness (aged 13:11 to 20:1 years). The results are discussed with reference to variables that may affect implant performance, such as age at onset of loss, duration of profound loss, age at implantation, and duration of implantation. They are compared with results for similar groups of children using hearing aids and cochlear implants.

A comparison of steady-state evoked potentials to modulated tones in awake and sleeping humans.

Steady-state evoked potential responses were measured to binaural amplitude-modulated (AM) and combined amplitude- and frequency-modulated (AM/FM) tones. For awake subjects, AM/FM tones produced larger amplitude responses than did AM tones. Awake and sleeping responses to 30-dB HL AM/FM tones were compared. Response amplitudes were lower during sleep and the extent to which they differed from awake amplitudes was dependent on both carrier and modulation frequencies. Background EEG noise at the stimulus modulation frequency was also reduced during sleep and varied with modulation frequency. A detection efficiency function was used to indicate the modulation frequencies likely to be most suitable for electrical estimation of behavioral threshold. In awake subjects, for all carrier frequencies tested, detection efficiency was highest at a modulation frequency of 45 Hz. In sleeping subjects, the modulation frequency regions of highest efficiency varied with carrier frequency. For carrier frequencies of 250 Hz, 500 Hz, and 1 kHz, the highest efficiencies were found in two modulation frequency regions centered on 45 and 90 Hz. For 2 and 4 kHz, the highest efficiencies were at modulation frequencies above 70 Hz. Sleep stage affected both response amplitude and background EEG noise in a manner that depended on modulation frequency. The results of this study suggest that, for sleeping subjects, modulation frequencies above 70 Hz may be best when using steady-state potentials for hearing threshold estimation.

Results for two children using a multiple-electrode intracochlear implant.

Assessments in speech perception, speech production, and language skills were conducted on two children, 5 and 10 years old at the time of surgery, using the Nucleus multiple-electrode cochlear implant. Data were collected pre- and post-operatively to measure changes in performance over time. For closed-set speech perception tests in the audition alone condition, post-operative performance was generally better than pre-operative performance and performance improved post-operatively for both patients. In closed-set vowel and consonant identification and open-set sentence perception for the older patient, post-operative improvements from the vision alone to the auditory-visual condition were recorded and performance improved post-operatively in both conditions. In all measures of speech production for both patients, post-operative scores were higher than pre-operative scores and performance improved post-operatively. In language skills, post-operative scores were higher than pre-operative scores and scores improved post-operatively in all measures for both patients.

The clinical assessment of cochlear implant patients.

This study outlines the clinical assessment procedures adopted in the Department of Otolaryngology at the University of Melbourne for patients being considered for a cochlear implant. As the procedure is new and requires rigorous evaluation, it is considered preferable only to operate on a limited number of patients, and ensure that they have a thorough evaluation both before and after surgery. This should be carried out by a team whose members have experience in otology, audiology, aural rehabilitation, acoustics and psychology. The indications and contraindications for surgery are also outlined.