Racial and Ethnic Differences in Health-Related Quality of Life for Individuals With Parkinson Disease Across Centers of Excellence.

BACKGROUND AND OBJECTIVES: Racial and ethnic minorities have been underrepresented in Parkinson disease (PD) research, limiting our understanding of treatments and outcomes across all non-White groups. The goal of this research is to investigate variability in health-related quality of life (HRQoL) and other outcomes in patients with PD across different races and ethnicities. METHODS: This was a retrospective, cross-sectional and longitudinal, cohort study of individuals evaluated at PD Centers of Excellence. A multivariable regression analysis adjusted for sex, age, disease duration, Hoehn and Yahr (H&Y) stage, comorbidities, and cognitive score was used to investigate differences between racial and ethnic groups. A multivariable regression with skewed-t errors was performed to assess the individual contribution of each variable to the association of 39-item PD Questionnaire (PDQ-39) with race and ethnicity. RESULTS: A total of 8,514 participants had at least 1 recorded visit. Most of them (90.2%) self-identified as White (n = 7,687), followed by 5.81% Hispanic (n = 495), 2% Asians (n = 170), and 1.9% African American (n = 162). After adjustment, total PDQ-39 scores were significantly higher (worse) in African Americans (28.56), Hispanics (26.62), and Asians (25.43) when compared with those in White patients (22.73, p < 0.001). This difference was also significant in most PDQ-39 subscales. In the longitudinal analysis, the inclusion of cognitive scores significantly decreased the strength of association of the PDQ-39 and race/ethnicity for minority groups. A mediation analysis demonstrated that cognition partially mediated the association between race/ethnicity and PDQ-39 scores (proportion mediated 0.251, p < 0.001). DISCUSSION: There were differences in PD outcomes across racial and ethnic groups, even after adjustment for sex, disease duration, HY stage, age, and some comorbid conditions. Most notably, there was worse HRQoL among non-White patients when compared with White patients, which was partially explained by cognitive scores. The underlying reason for these differences needs to be a focus of future research.

Incidence, Time Course, and Implications of Electrode Abnormalities in Pediatric Cochlear Implant Recipients.

OBJECTIVES: To identify the incidence of specific abnormal impedance patterns or electrode faults, and determine their implication and significance, in a pediatric population of cochlear implant recipients. DESIGN: Nine hundred fifty-six cochlear implant devices (621 recipients) were included in this retrospective study. Devices were included if the implantation surgery was performed at our tertiary care hospital, and the recipient was 21 years of age or younger at the time the device was implanted. Device models incapable of producing impedance measures by telemetry were excluded from the study. Individual devices with abnormal impedance measures indicating an open circuit (OC), short circuit (SC), or partial short circuit (partial SC) were included in the study, unless these abnormalities occurred only in the OR and not postoperatively. Device and patient characteristics were examined to determine their relationship to increased incidence of electrode faults or atypical patterns. RESULTS: The incidence of software-identified electrode faults in our exclusively pediatric population was similar to that reported in the literature containing mixed-age cohorts. Nine percent of devices experienced at least one OC or one pair of SCs. Although higher incidence of these faults was seen in some specific device models, the long-term average of these faults was equivalent across manufacturers. No factors examined in this study increased the likelihood of experiencing a software-identified electrode fault. Within the study period under examination (October 1997 to March 2018), partial SCs (presenting as zig-zag or low-flat impedance patterns) were only observed in Cochlear devices. While the incidence of these partial SC abnormalities (non-software-identified faults) was 6% across all models of Cochlear devices, the CI24RCS experienced the highest incidence of partial SCs. The incidence of this pattern was lower in models manufactured after CI24RCS. CONCLUSIONS: This study provides incidence of various cochlear implant electrode impedance abnormalities across a large cohort of pediatric recipients. The incidence of all electrode abnormalities was relatively low, particularly partial SCs, which are less well recognized and not currently identified by clinician-accessible software. Incidence of software-identified electrode faults (i.e., SCs and OCs) in our pediatric-only study is similar to the incidence reported in other mixed-population and adult-only studies. These common electrode faults generally are not associated with device failure, and clinicians should feel comfortable reassuring families that an individual electrode fault does not imply an impending device failure. Conversely, those atypical impedance patterns not currently flagged by the programming software as abnormal, but visible to the clinician's eye (i.e., partial SCs in zig-zag or low-flat patterns), have a higher likelihood of device damage and failure. Performance in patients with electrode arrays exhibiting these atypical patterns should be closely monitored for any functional decrement, and proactively managed to maintain performance whenever possible.

Prognosis tool based on a modified children's implant profile for use in pediatric cochlear implant candidacy evaluation.

OBJECTIVES: We developed a prediction tool to assist in evaluation of pediatric candidates for cochlear implantation (CI) and to help plan for preoperative and postoperative support. METHODS: Between 1995 and 2005, 277 patients underwent CI at Children's Hospital Boston. Of these 277 patients, 250 had at least 2 years of post-CI follow-up and adequate pre-CI information for rating by our prediction tool. Of the 250, 106 were randomly selected for inclusion. The patients were divided into group A (auditory/oral communicator); group B (auditory/oral communicator with visual assistance), group C (visual/manual communicator with auditory/oral skills assistance), and group D (will not derive communicative benefit from implant). Predictions were performed with clinical assessment and two statistical techniques: regression modeling and classification and regression tree (CART) analysis. RESULTS: Among patients who became auditory/oral communicators (group A), clinical assessment predicted that outcome accurately 65% of the time, CART analysis had intermediate sensitivity (79%), and regression modeling was the most sensitive (95%). Groups B through D were predicted 45% of the time by regression modeling, 90% of the time by clinical assessment, and 100% of the time by CART analysis. CONCLUSIONS: A combination of speech-language, medical, and educational constructs can provide a reliable prediction of the communication outcome. Our goal for the prognosis tool is to make it part of the overall candidacy process in supporting decision-making about CI and planning for post-CI therapy.

Not a "sound" decision: is cochlear implantation always the best choice?

OBJECTIVE: To review the candidacy criteria used to counsel parents of profoundly deaf children, to determine if these criteria have changed over time, and to evaluate eventual communication outcomes for these patients. DESIGN: Retrospective review of 483 pediatric cochlear implant candidates from September 1995 to December 2006 seen at a tertiary care pediatric hospital. RESULTS: Out of 483 implant candidates, 191 patients were initially felt not to be favorable candidates based on CI team evaluation. Of this group, 3 had insufficient records to review and were excluded. The remaining 188 patients underwent a detailed analysis of specific possible contraindications to implantation. This included audiologic, medical and psychosocial parameters. The data was divided into two time periods: Group 1 included 44 patients from 1995 to 2000, and Group 2 included 144 patients from 2001 to 2006. In Group 1, there was a higher percentage of children with language deprivation and developmental concerns and patients not ready, compared to Group 2 which had a higher percentage of families not ready and inadequate support systems. Group 1 had a higher percentage of patients who ultimately underwent cochlear implant, but otherwise the two groups were largely similar. CONCLUSION: Analysis of our data showed that the degree of concern that the cochlear implant team has in relationship to specific candidacy criteria has changed over time. Recommendations against a cochlear implant were often revisited after initial concerns were addressed. The use of a team approach, in conjunction with a validation tool, is important for establishing criteria for successful cochlear implantation in children to support appropriate counseling of patients and families and to plan post-implant management.

Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.

OBJECTIVES: To document the audiologic phenotype of children with biallelic GJB2 (connexin 26) mutations, and to correlate it with the genotype. DESIGN: Prospective, observational study. SETTING: Tertiary care children's hospital. PATIENTS: Infants and children with sensorineural hearing loss (SNHL). INTERVENTION: Sequencing of the GJB2 (connexin 26) gene. MAIN OUTCOME MEASURES: Degree and progression of SNHL. RESULTS: From December 1, 1998, through November 30, 2006, 126 children with biallelic GJB2 mutations were identified. Of the 30 different mutations identified, 13 (43%) were truncating and 17 (57%) were nontruncating; 62 patients had 2 truncating, 30 had 1 truncating and 1 nontruncating, and 17 had 2 nontruncating mutations. Eighty-four patients (67%) initially had measurable hearing in the mild to severe range in at least 1 of 4 frequencies (500, 1000, 2000, or 4000 Hz). Of these 84 patients with residual hearing, 47 (56%) had some degree of progressive hearing loss. Patients with 2 truncating mutations had significantly worse hearing compared with all other groups. Patients who had 1 or 2 copies of either an M34T or a V37I allele had the mildest hearing loss. CONCLUSIONS: Hearing loss owing to GJB2 mutations ranges from mild to profound and is usually congenital. More than 50% of patients will experience some hearing loss progression, generally gradually but occasionally precipitously. Hearing loss severity may be influenced by genetic factors, such as the degree of preserved protein function in nontruncating mutations, whereas hearing loss progression may be dependent on factors other than the connexin 26 protein. Genetic counseling for patients with GJB2 mutations should include the variable audiologic phenotype and the possibility of progression.

Factors associated with sensorineural hearing loss among survivors of extracorporeal membrane oxygenation therapy.

OBJECTIVES: To endeavor to explain why some graduates of extracorporeal membrane oxygenation (ECMO) therapy develop sensorineural hearing loss (SNHL) whereas others do not, to study the variability seen in the degree of SNHL, to attempt to explain why some graduates with SNHL experience progressive worsening whereas others do not, and to describe the time course of the onset of SNHL on the basis of identified risk factors. DESIGN: A retrospective chart review with proportional-hazards regression analysis to identify specific risk factors for SNHL from a list of patient and treatment variables. SETTING: Children's Hospital Boston, a pediatric tertiary-care facility and ECMO center. PATIENTS: Neonatal ECMO graduates born in 1986-1994 who survived to discharge and underwent audiologic evaluations (n = 111) and a random sample of ECMO graduates who survived to discharge and did not undergo audiologic evaluations (n = 30). OUTCOME MEASURES: Audiologic data, including the presence or absence of SNHL, the severity of SNHL at the most recent evaluation, the stability or progressive worsening of hearing (with the first evaluation compared with the most recent evaluation), and the occurrence of delayed-onset SNHL. RESULTS: Twenty-nine (26%) of 111 ECMO graduates who underwent audiologic testing had SNHL at the last evaluation. Of these 29 subjects with SNHL, 21 (72%) had progressive SNHL, of whom 14 (48%) had delayed-onset SNHL. The age of identification of SNHL ranged from 4 months to 8 years 11 months. Factors identified with proportional-hazards regression analyses as being associated significantly with the time to onset of SNHL were a primary diagnosis of congenital diaphragmatic hernia (hazard ratio: 2.60), length of ECMO therapy (hazard ratio: 7.18), and number of days children received aminoglycoside antibiotics (hazard ratio: 5.56). Kaplan-Meier "time-to-event" curves were constructed to illustrate the time course of onset of SNHL, as affected by each of the variables identified as significant risk factors. CONCLUSIONS: These findings illustrate the need for early, routine, audiologic evaluations throughout childhood for all ECMO graduates. Children at even greater risk for developing SNHL because of a history of congenital diaphragmatic hernia, prolonged ECMO therapy, and/or a lengthy course of aminoglycoside antibiotic therapy should be monitored even more closely throughout childhood, depending on the child's individual risk indicators, as suggested here. On the basis of these risk indicators, efforts can be made to minimize the risk of hearing loss while a child is being treated with ECMO. In addition, these risk indicators can assist with counseling families of ECMO graduates regarding the child's specific risk of developing SNHL and how it can be managed should it occur.

Congenital absence of the incus bilaterally without other otologic anomalies: a new case report.

We describe only the third reported case of congenital, bilaterally absent includes that were not accompanied by another otologic abnormality. This condition was detected in a 3-year-old boy who was being evaluated for a hearing impairment and speech and language delay. The patient was treated with partial ossicular replacement prostheses, which resulted in an improvement in his hearing.