Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.

The use and utility of cochlear implantation has rapidly increased in recent years as technological advances in the field have expanded both the efficacy and eligible patient population for implantation. This review aims to serve as a general overview of the most common hearing disorders that have favorable auditory outcomes with cochlear implants (CI). Hearing loss in children caused by congenital cytomegalovirus infection, syndromic conditions including Pendred Syndrome, and non-syndromic genetic conditions such as hearing impairment associated with GJB2 mutations have shown to be successfully managed by CI. Furthermore, cochlear implantation provides the auditory rehabilitation for the most common etiology of hearing loss in adults and age-related hearing loss (ARHL) or presbycusis. However, in some cases, cochlear implantation have been associated with some challenges. Regarding implantation in children, studies have shown that sometimes parents seem to have unrealistic expectations regarding the ability of CI to provide auditory rehabilitation and speech improvement. Given the evidence revealing the beneficial effects of early intervention via CI in individuals with hearing disorders especially hearing loss due to genetic etiology, early auditory and genetic screening efforts may yield better clinical outcomes. There is a need to better understand genotype-phenotype correlations and CI outcome, so that effective genetic counseling and successful treatment strategies can be developed at the appropriate time for hearing impaired individuals.

Anatomical Correlates and Surgical Considerations for Localized Therapeutic Hypothermia Application in Cochlear Implantation Surgery.

HYPOTHESIS: Application of localized, mild therapeutic hypothermia during cochlear implantation (CI) surgery is feasible for residual hearing preservation. BACKGROUND: CI surgery often results in a loss of residual hearing. In preclinical studies, local application of controlled, mild therapeutic hypothermia has shown promising results as a hearing preservation strategy. This study investigated a suitable surgical approach to deliver local hypothermia in patients utilizing anatomical and radiologic measurements and experimental measurements from cadaveric human temporal bones. METHODS: Ten human cadaveric temporal bones were scanned with micro-computed tomography and anatomical features and measurements predicting round window (RW) visibility were characterized. For each bone, the standard facial recess and myringotomy approaches for delivery of hypothermia were developed. The St. Thomas Hospital (STH) classification was used to record degree of RW visibility with and without placement of custom hypothermia probe. Therapeutic hypothermia was delivered through both approaches and temperatures recorded at the RW, RW niche, over the lateral semicircular canal and the supero-lateral mastoid edge. RESULTS: The average facial recess area was 13.87 ±â€Š5.52 mm. The introduction of the cooling probe through either approach did not impede visualization of the RW or cochleostomy as determined by STH grading. The average temperatures at RW using the FR approach reduced by 4.57 ±â€Š1.68 °C for RW, while using the myringotomy approach reduced by 4.11 ±â€Š0.98 °C for RW. CONCLUSION: Local application of therapeutic hypothermia is clinically feasible both through the facial recess and myringotomy approaches without limiting optimal surgical visualization.

Mean contact quotient using electroglottography in patients with multiple sclerosis.

OBJECTIVE: To compare the mean and standard deviation (SD) of the contact quotient (CQ) of the sustained vowels ([a] and [e]) in multiple sclerosis (MS) patients versus controls. STUDY DESIGN: Cross-sectional study. MATERIALS AND METHODS: Thirty-nine subjects (24 patients and 15 controls) participated in this study. Laryngeal electroglottography was performed on all subjects while phonating the vowels [a] and [e] at a comfortable pitch and loudness. The fundamental frequency, mean CQ, SDs, and jitter were computed for both vocal tasks. RESULTS: The mean age of the MS group was 36.25+10.61 years. All laryngeal examinations were normal and five patients with MS had dysphonia described as voice breaks and fatigue in connected speech. For both vowels [a] and [e], the mean closed quotients were comparable in groups, MS and control (43.90 vs 53 for [a] and 44.75 vs 43.63 for [e]) with no significant difference. When comparing five MS patients with dysphonia versus controls, for the vowel [a], the mean closed quotient was significantly lower in MS patients with dysphonia (P values of 0.043). CONCLUSION: The mean closed quotient for sustained vowels [a] and [e] are comparable in MS patients and healthy controls except in patients with dysphonia.

Vocal characteristics in patients with thyroiditis.

OBJECTIVE: The aim of the present study was to describe the vocal characteristics of patients with thyroiditis in a clinical setting. MATERIALS AND METHODS: A total of 17 consecutive patients with the diagnosis of thyroiditis presenting to the endocrinology clinic were invited to participate in the study. A group of 29 healthy subjects were used as controls. They underwent acoustic analysis and a perceptual evaluation using the GRABS classification. The mean score of each parameter was computed, and the distribution of severity of each perceptual parameter were listed. RESULTS: There was no significant difference in any of the acoustic parameters between the patients and the controls, and there was no significant difference in the mean score of all the perceptual parameters between the patients and the controls. Even when examining the distribution of the severity of evaluation, there was no significant difference between the patients and the controls, as well. CONCLUSION: Patients with thyroiditis do not have abnormal perceptual vocal evaluation or acoustic findings compared with controls.

Goiter and laryngopharyngeal reflux.

The purpose of this study is to look at the prevalence of laryngopharyngeal reflux disease in patients with goiter in a group of 52 patients with goiter. All participants were asked to respond to the 9 questions on the Reflux Symptom Index (RSI). A diagnosis of LPRD based on symptoms was made for any RSI score above 10. The average score of every question was computed for all patients with goiter and compared to the corresponding average score of the controls. A P value of less than 0.05 was considered statistically significant. The total prevalence of LPRD in patients with goiter as indicated by an RSI score greater than 10 was 15.4% versus 9.1% in controls. The difference was not statistically significant (P value 0.525). Looking at the average score of the individual symptoms as listed in the RSI questionnaire, the average score of all the symptoms was higher in patients with goiter versus controls. There was no correlation between LPRD and any of the demographic variables except for nodules (P value 0.035). The presence of laryngopharyngeal symptoms in patients with goiter should alert the treating physician to the presence of laryngopharyngeal reflux disease.