Inner ear dysfunction in myotonic dystrophy type 1.

OBJECTIVES: Myotonic dystrophy type 1 is associated with various oculomotor, vestibular, and auditory abnormalities. However, auditory system investigation has been mainly performed with the subjective method of pure-tone audiometry. In this study, a detailed vestibular and audiological evaluation was undertaken, including the objective and more sensitive method of transiently evoked otoacoustic emissions (TEOAEs). MATERIALS AND METHODS: Twenty-four patients with genetically diagnosed myotonic dystrophy type 1 and 21 controls were studied. Audiological and vestibular investigations included pure-tone audiometry, tympanometry, auditory brainstem responses (ABRs), TEOAEs, and electronystagmography. RESULTS: Hearing impairment was evident in 15 (62.5%) patients and in nine of them (37.5%) ABR abnormalities were found. However, subclinical cochlear damage was found in all patients, as evidenced by absent emissions or lower otoacoustic emission amplitude. Vestibular hypesthesia was found in nine patients (37.5%), accompanied by spontaneous nystagmus in four of them (15.6%). CONCLUSIONS: Auditory and vestibular abnormalities are quite common in patients with myotonic dystrophy type 1. However, it appears that subclinical cochlear damage is an ubiquitous finding of the disease.

Hearing evaluation in newborns with congenital aural malformation.

OBJECTIVES: Over 5 years, 68,472 newborns were screened through a newly implemented universal newborn hearing screening program. In 15 cases, atresia of the external ear canal was found. The aim of this study was to estimate the hearing status of these newborns using transiently evoked otoacoustic emissions (TEOAEs) and auditory brainstem responses (ABRs). METHODS: TEOAEs were performed during the first days after birth in the normal ears of all newborns. Diagnostic ABR audiometry was performed in 10 newborns. RESULTS: Unilateral involvement occurred in all newborns studied. TEOAEs were present in all the contralateral ears. Normal ABRs were recorded from the healthy ear, whereas a conductive hearing loss, of approximately 50-60 dB, was found in the involved ear. In long-term follow-up, a satisfactory level of hearing, language, and speech development was found in 9 of the newborns; it was too early to come to definite conclusions in 4 newborns and 2 newborns were lost in follow-up. CONCLUSIONS: In this study, all newborns with aural atresia had normal function in the contralateral ear. Yet, a comprehensive assessment of hearing is essential as early intervention is necessary in the rare case of bilateral hearing impairment.

Sleep position and laterality of benign paroxysmal positional vertigo.

OBJECTIVE: The aim of this study was to investigate the frequency of posterior semicircular canal benign paroxysmal positional vertigo in each ear, and to assess the association between the ear affected by benign paroxysmal positional vertigo and the head-lying side during sleep onset. Based on a previous study which used objective methods to prove the preference of the elderly for the right head-lying side during sleep, we hypothesised that a predominance of the same head-lying side in benign paroxysmal positional vertigo patients may affect the pathophysiology of otoconia displacement. STUDY DESIGN: We conducted a prospective study of out-patients with posterior semicircular canal benign paroxysmal positional vertigo, confirmed by a positive Dix-Hallpike test. METHODS: One hundred and forty-two patients with posterior semicircular canal benign paroxysmal positional vertigo were interviewed about their past medical history, focusing on factors predisposing to benign paroxysmal positional vertigo. All patients included in the study were able to define a predominant, favourite head-lying side, right or left, during sleep onset. RESULTS: The Dix-Hallpike test was found to be positive on the right side in 82 patients and positive on the left side in 54; six patients were found to be positive bilaterally. During sleep onset, 97 patients habitually laid their head on the right side and the remaining 45 laid their head on the left. The association between the affected ear and the head-lying side during sleep onset was statistically significant (p < 0.001). CONCLUSIONS: Our study found a predominance of right-sided benign paroxysmal positional vertigo, a subjective preference amongst patients for a right head-lying position during sleep onset, and an association between the ear affected by benign paroxysmal positional vertigo and the preferred head-lying side during sleep onset. The clinical and therapeutical implications of this observation are discussed.

The effect of very low birth weight on otoacoustic emissions.

UNLABELLED: The effect of very low birth weight on otoacoustic emissions. OBJECTIVES: The aim of this study was to examine the effect of very low birth weight (VLBW) on the measurement of transiently evoked otoacoustic emissions (TEOAEs) in newborns. METHODS: TEOAEs were recorded in all VLBW newborns (birth weight < 1500 g) who were admitted in the Neonatal Intensive Care Unit of the Iaso Maternity Hospital, during a period of 1 year. Twenty-four VLBW newborns were included in the study. Their mean birth weight was 1283 g and they had mean gestational age 31.3 weeks. Forty full-term newborns with absence of any risk factor for hearing impairment were used as controls. RESULTS: TEOAEs were present in 97.5% of controls, but only in 79.2% of the VLBW group. Statistically significant differences were found between VLBW newborns and controls in most TEOAE measures. CONCLUSIONS: Increased rate of initial 'fail' in hearing screening, in conjunction with statistically confirmed lower TEOAE measures in VLBW newborns, justifies special care and long term follow-up for this group of newborns.

Management of second branchial cleft abnormalities in adults.

OBJECTIVE: Branchial cleft anomalies are developmental disorders of the neck. Our aim is to report the diagnostic and treatment procedure followed in three cases of second branchial cleft abnormalities in adults. METHODOLOGY: A patient aged over 40 underwent surgical excision of a well-encapsulated cystic neck structure and two further patients of a branchial sinus and branchial fistula respectively. Prior to surgery the patients were assessed by means of imaging techniques, FNA cytology and cytometric DNA analysis. RESULTS: Neutrophils, debris, mature squamous epithelial cells including degenerate forms and lymphoid cells were the key features in the cytological diagnosis. DNA analysis of the pre-operative cytological material in two cases revealed euploidy, thus indicating no malignancy. Histological examination of the lesions after excision established the diagnosis in all cases. No recurrences were reported. CONCLUSIONS: Although congenital lesions, the second branchial cleft abnormalities usually present in adulthood and have to be distinguished from benign and malignant lateral neck swellings. FNA cytology as well as DNA ploidy determination contributes to the establishment of the diagnosis of branchial cleft abnormalities and their differential diagnosis.

Decreasing test time in newborn hearing screening.

This study examined the effect of reducing the number of accepted responses in transiently evoked otoacoustic emissions based on the results of a universal neonatal hearing screening program. Our intention was to decrease the test time of newborns. A total of 464 ears were examined by using a universal newborn hearing-screening program implemented in a private maternity hospital. ILO88 Otodynamics Analyzer Quickscreen program was used for all testing and a two-stage procedure was adopted. In the first stage, the results were continuously evaluated for the 'pass' criteria, during the test, after at least 20 low-noise sweeps had been presented. As soon as the criteria were met, the test was interrupted and the results were recorded. In the second stage of the procedure, the test was continued and finally terminated after 260 quiet samples had been recorded. The results of each stage of this procedure were compared and evaluated. A total of 402 ears had normal otoacoustic emissions and only 62 ears had absent emissions. It was concluded that after a minimum of 20 averaged quiet responses, which we consider necessary in order to record reliable emissions and as soon as the 'pass' criteria were fulfilled the test could be terminated without affecting the 'pass-fail' rates which were similar in both stages. However, we believe that for diagnostic and clinical purposes, all 260 quiet samples must be used, because the results after the second stage indicated statistically better scores in response and reproducibility measures.

Effect of the number of averaged responses in transient evoked otoacoustic emissions on the results of neonatal hearing screening.

This study examined the effect of the number of accepted responses in transient evoked otoacoustic emissions on the results of neonatal hearing screening programmes. The ILO88 Otodynamics Analyzer Quickscreen programme was used for all testing, and a three-stage procedure was adopted by averaging 20, 30, and 260 low-noise samples in total. The results were recorded after each stage of the testing in those cases in which, after the first 20 accepted responses, the "pass" criteria were met. Under these circumstances, 117 ears were included in the study from a total number of 334 screened ears. It was concluded that 20 averaged quiet responses are adequate for screened newborn babies to pass the test if the conditions of the "pass" criteria are fulfilled at this stage. In the rest of the newborn babies, testing should be continued using a larger number of clicks. For diagnostic and clinical purposes, the full 260 quiet samples must be used since the results indicated statistically better scores in response and reproducibility measures after the 260 averaged responses.

Audiological assessment in patients with mitochondrial myopathy.

Mitochondrial myopathies comprise a heterogeneous group of disorders characterized by the presence of ragged red fibres in muscle biopsy. The present study investigates the audiological features in a group of 14 patients in whom diagnosis was histologically confirmed. A complete ENT, neurological and audiological work-up was performed for every patient, including measurement of brainstem auditory evoked potentials (BAEPs). Most patients presented with a varying degree of hearing loss and occasional abnormalities of the latencies and interpeak latencies of the BAEPs, but only the increased latencies of waves I and V have been statistically confirmed. Audiological data suggest non-specific involvement at one or more sites along the auditory pathway.