Phenotypic manifestations of branchio-oto-renal syndrome.

Branchiootorenal (BOR) syndrome is a variable, autosomal-dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely-angled promontories.

Gender disparities in common sense models of illness among myocardial infarction victims.

Symptom attributions were contrasted between male and female myocardial infarction victims (N = 157) who were comparable on age, cardiac risk status, medical history, symptom presentation, and other variables. Women were less likely than men to attribute their prehospital symptoms to cardiac causes. In the context of hearing symptom attributions or advice from support persons, women were less likely than men to report receiving a cardiac attribution or advice to seek medical attention. Results have implications for how victim gender influences the lay interpretation of cardiac symptoms.

Ear-nose-throat abnormalities in the CHARGE association.

A comprehensive evaluation of the otolaryngological abnormalities in 50 patients with colobomata, heart defect, atresia of the choanae, retarded growth or development, genital hypoplasia, and ear anomalies or deafness (CHARGE) was performed. All the patients had ear abnormalities; 96% (48/50) had malformed pinnae, and 54% (27/50) had facial nerve palsies. Only 8% (4/50) had normal hearing, the commonest hearing defect being severe conductive or mixed loss. Eighty-four percent (42/50) of computed tomographic scans of the temporal bone were abnormal, the characteristic abnormality being the combination of a hypoplastic incus and absent semicircular canals. Eighty-six percent (43/50) of patients had upper airway abnormalities. Posterior choanal abnormalities occurred in 56% (28/50), and 42% (21/50) had retrognathia leading to intubation difficulties. Laryngotracheal abnormalities occurred in 38% (19/50), and 14% (7/50) required tracheostomies. Careful upper airway assessment is essential to avoid potentially lethal complications such as aspiration.

Outcome of preterm infants who suffered neonatal apnoeic attacks.

Thirty infants of less than 31 weeks post-menstrual age were monitored for apnoea using routine medical equipment and intermittent 24-h pneumocardiograms. These infants were examined again between 16 and 36 months of age. Full physical and ophthalmological examinations were carried out as well as audiometry and assessment using the Griffiths mental developmental scales. Twenty-five of these infants had suffered apnoeic attacks and two of these infants had an abnormal developmental quotient. Neither sensorineural deafness of retinopathy of prematurity were detected in the children who suffered apnoeic episodes. The poor prognosis which has been associated with neonatal apnoea may not apply to those infants without other serious neonatal problem.

Otitis media with effusion in paediatric cochlear implantees: the role of peri-implant grommet insertion.

INTRODUCTION: Otitis media with effusion (OME) is a common disease coincident with the need for cochlear implantation in 44% of the 45 children (mean = 4.8 years) currently implanted at our centre. Our suspicion that peri-implant effusion contributed to complications generated our interest in studying this issue. METHOD: Retrospective review of patient records was carried out with the focus on clinical and audiological evidence of OME before, during and after implantation. Operative records were reviewed to determine any effect OME had on the procedure and postoperative complications. RESULTS: Of our 45 implanted patients, 10 males and 10 female had OME prior to or after implantation. Pre-implant, 19 children had OME diagnosed and 11 received grommets (6 had multiple sets). Peri-implantation, 11 children had OME. These children with peri-implant effusions had 2 of 3 major, 2 of 2 intermediate and 1 of 2 minor complications. Children with peri-implant effusions also accounted for 3 of 4 cases in which there were bothersome middle ear effusions or granulation tissue at operation. The 6 children in whom grommets were placed within two months of cochlear implantation accounted for only one case of effusion at implantation and their courses were complicated only by a keloid in one child and a late flap disruption in another. SUMMARY: Insertion of grommets prior to cochlear implantation in children with peri-implant OME may provide some protection against intra-operative and some post-operative complications. Our management policy in patients with OME now aims at placing grommets such that they are in and patent at the time of implantation.

Neuro-otological function in X-linked hearing loss: a multipedigree assessment and correlation with other clinical parameters.

Auditory and vestibular investigations were carried out in 19 affected men and 13 obligate female carriers of 7 pedigrees with nonsyndromic hearing loss segregating as an X-linked trait. In addition, high resolution computerised tomographic scanning was carried out in 24 affected males and 12 obligate female carriers. The neuro-otological results confirm that non syndromic X-linked hearing loss is a clinically heterogeneous condition, but radiological assessment of the cochlea revealed two distinct groups: a normal group, and an abnormal group characterised by a bulbous internal auditory meatus, a dilated facial nerve canal and incomplete separation of the basal coil of the cochlea from the internal auditory meatus. Within a given pedigree there was marked consistency of the presence or absence of the CT scan abnormality in the affected males. One third of the obligate female carriers of the radiologically abnormal pedigrees were shown to have a similar abnormal finding, but as two thirds were normal, radiological examination did not predict carrier status. In the affected men, pure tone audiometric data did not correlate with the radiological abnormality, whereas vestibular function was strikingly correlated, being normal in all but one case in pedigrees with normal radiology and absent, or grossly impaired, in the pedigrees with abnormal radiology. Neuro-otological abnormalities were documented in approximately two thirds of the obligate female carriers, but were insufficiently frequent in occurrence or specific in type to be of predictive value.

Dips on Békésy or audioscan fail to identify carriers of autosomal recessive non-syndromic hearing loss.

Békésy and audioscan sweep audiometry tests were carried out in 24 presumed obligate carriers of autosomal recessive non-syndromic hearing loss and 30 sex and age appropriate controls, with a view to defining the most expedient criteria for dips on either test in respect of possible carrier detection. On Békésy, dips with a minimum depth of 22.5 dB generated the greatest difference between carriers and non-carriers, while on audioscan, the criterion of a minimum dip depth of 15 dB provided the best discriminant. Using these criteria, the prevalence of dips was also evaluated in 8 unaffected siblings and 24 age appropriate control subjects. The findings both in the adult and the paediatric groups do not support the hypothesis that the presence of dips, either on Békésy or audioscan, is linked to the carrier state in ARNSHL.

Clinical applications of transcranial bone conduction attenuation in children.

It is a common belief that there is no significant transcranial attenuation across the skull by bone conduction (BC). In 32 children with proven unilateral sensorineural hearing loss the unmasked bone thresholds were measured on each side. There was a significant attenuation of BC at 4 kHz. Transcranial attenuation of BC at 4 kHz may explain the difference in sound perception between the two ears when bone conduction amplification is used. Further research should be undertaken to identify the better cochlea in mixed hearing losses.

A nine-year review of 841 children tested by transtympanic electrocochleography.

The case notes of 841 subjects who had had ECochG carried out between January 1972 and December 1980, were examined and the results compared with PTA results in 263 cases in which these were available. ECochG was found to be a good predictor of peripheral hearing as long as its limitations were recognized, and some of these are discussed. BSER, which has similar limitations, was also found to be a good predictor of peripheral hearing, although slightly less sensitive, and sometimes gave additional information on the hearing loss and the clinical state of the patient.

A new syndrome: hearing loss and familial salivary gland insensitivity to aldosterone in two brothers.

Two male siblings presented in infancy with hyponatremia. The levels of plasma renin activity and aldosterone were elevated. Sodium supplement was necessary to maintain normal sodium balance. The salivary sodium concentrations were markedly elevated, with sweat sodium levels being in the upper normal range. Urinary sodium concentration and renal epithelial exchange between sodium and potassium were normal. This was felt to be due to an autosomal recessive disorder. Both siblings were later diagnosed as having a bilateral moderate to severe sensorineural hearing loss with intermittent conductive overlay due to middle ear fluid. The sensorineural loss was also felt to be autosomal recessive in origin, but the possibility of a disturbance of sodium balance in the inner ear has been questioned.

Surgical aspects of paediatric cochlear implantation.

Cochlear implantation in the paediatric population is now an accepted method of rehabilitating profoundly or totally deaf children. The problems of cochlear implantation in children with other significant medical problems are examined. A retrospective review of the records of the first 45 children implanted at our centre was carried out. The review focused on surgical factors and outcome in addition to variations in technique which have occurred since the programme began. Congenital hearing loss was the most common indication for implantation. Fifteen children (33 per cent) had other medical problems. Three cases of flap breakdown (two occurring after direct trauma to the package bed) and one case of a misplaced electrode requiring re-implantation accounted for the only major complications to date. Minor complications included hypertrophic scar formation and post-operative wound infection. All children were using their implants at the time of this review, but two have subsequently been explanted. Cochlear implantation of children with multiple medical problems requires acceptance of a slightly higher risk of complications.

Parental experiences of a paediatric cochlear implant programme.

Although cochlear implantation is a well-established procedure in profoundly deaf children, very little research has investigated whether parents are satisfied with the treatment (including assessment, surgery and rehabilitation) or its outcome, and whether it has met their expectations. In this study, 44 parents of children who had received cochlear implants completed a confidential postal questionnaire. Results indicated that the majority of parents felt that the information they and their child received was both sufficient and appropriate. Many parents experienced more distress than they anticipated, but perceived their child as having experienced less physical discomfort than expected. Some suggestions for improving the service were made, but in general it was felt that little more could be done to inform our 'consumers', or to reduce levels of stress.

Gender differences in patients' attributions for myocardial infarction: implications for adaptive health behaviors.

Attributions for myocardial infarction were studied in a patient sample (N = 157). Men and women were comparable at intake on age, health status, and lifestyle factors. Attributions to diet, chi2 (1, N = 157) = 8.83, p = .003, and exercise, chi2 (1, N = 157) = 6.60, p = .01, were less common among women than men. After 3 months (n = 136), women were less likely than men to report improving their diets or increasing exercise. Initial attributions predicted subsequent reports of behavior change in relevant domains. These findings suggest that gender differences in causal attributions for myocardial infarction may contribute to subsequent differences between men and women in health-related behavior change.