Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.

Trisomy 18 is a common chromosomal aberration syndrome, characterized by variable clinical manifestations, including cardiovascular, pulmonary, genitourinary, and musculoskeletal findings, leading to a shorter survival and severe developmental delay in survivors. However, recently, intensive therapeutic intervention has allowed for prolonging survival. In terms of otological complications, only a limited number of relevant reports have been published. To demonstrate the characteristic of hearing loss (HL) in children with Trisomy 18, we retrospectively evaluated 22 patients (44 ears) by comprehensive auditory evaluation with the auditory steady-state response (ASSR) test and temporal bone computed tomography (CT). ASSR revealed that 20 patients (91%) had bilateral moderate to profound HL, more frequent and severe than that in Trisomy 21; among 42 ears having HL, 12 ears (29%) had conductive HL, and 26 ears (62%) had mixed HL. CT scans of 38 ears revealed that 34 ears (89%) had an external and middle ear malformation. Hearing aids (HA) were fitted in 17 patients (air and bone-conduction HAs). The threshold hearing with HA was improved in all of them. Accurate otological evaluation using ASSR and CT and intervention by HAs could be a feasible choice for children with Trisomy 18.

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

OBJECTIVES: This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing. METHODS: One thousand one hundred twenty (1120) Japanese hearing loss patients from 53 ENT departments nationwide participated in this study. Massively parallel sequencing of 63 genes implicated in hearing loss was performed to identify the genetic causes in the Japanese hearing loss patients. RESULTS: A novel mutation in COL11A2 (c.3937_3948delCCCCCAGGGCCA) was detected in an affected family, and it was segregated in all hearing loss individuals. The clinical findings of this family were compatible with non-ocular Stickler syndrome. Orofacial features of mid-facial hypoplasia and slowly progressive mild to moderate hearing loss were also presented. Audiological examinations showed favorable auditory performance with hearing aid(s). CONCLUSION: This is the first case report of the genetic diagnosis of a non-ocular Stickler syndrome family in the Japanese population. We suggest that it is important to take both genetic analysis data and clinical symptoms into consideration to make an accurate diagnosis.

Comparative study of the daily lifestyle of patients with Meniere's disease and controls.

OBJECTIVES: This study was performed to investigate the possibility that daily lifestyle may have a causal relationship with Meniere's disease. METHODS: We conducted a questionnaire study of daily lifestyles among groups of patients with Meniere's disease and those with low-frequency hearing loss, and compared the results with those of control groups of local residents matched individually by gender and age. RESULTS: The Meniere's disease group diverged most widely from the control groups in their behavior patterns. Significant divergence was especially indicated in their engrossed, self-inhibiting, and time-constrained behaviors. Although the low-frequency hearing loss group also exhibited similar tendencies toward engrossment and in their feeling pressed for time, their self-inhibiting behavior was less pronounced. There was no major difference between the endolymphatic hydrops patient groups and the control groups on other items in the study such as daily lifestyle, environmental stress, and means of relaxation. CONCLUSIONS: The results of the present study strongly suggest that there may be a link between an individual's specific behavior patterns and the onset of Meniere's disease.

Personal factors involved in onset or progression of Ménière's disease and low-tone sensorineural hearing loss.

PURPOSE: To identify personal causative factors for Ménière's disease. PROCEDURES: Patterns of hearing loss progression were studied in patients with Ménière's disease and low-tone sensorineural hearing loss, and the involvement of stress and the relation of stressors to the onset or progression of the disease were analyzed. RESULTS: Low-tone loss recurred in 40% of patients even after hearing was restored, and low-tone loss progressed to high-tone loss after frequent repetitions of recovery and recurrence. High-tone loss tended to proceed to all-tone loss. Eighty percent of patients reported that stress was involved or deeply involved in the onset or progression of the disease. Common causative stressors were business-related pressure, insufficient sleep, and troubles at the workplace or at home. CONCLUSIONS: The present findings indicate that recovery and recurrence may be influenced by the strength and duration of stress that is produced when patients do not feel rewarded for engrossment in their work or for self-inhibiting behaviors.