Publications by authors named "M Smeal"
Article Synopsis
- Usher syndrome (USH) is a genetic disorder causing early onset deaf-blindness, diagnosed through retinitis pigmentosa and sensorineural hearing loss; subtypes are classified by severity and age of onset.
- In a review of 198 patients at Bascom Palmer Eye Institute, 96% were clinically diagnosed with USH, but only 35% had genetic testing with a pathogenic diagnosis.
- The study emphasizes the importance of integrating molecular testing in care for USH patients to enable earlier interventions and better coordination between eye and hearing specialists.
Objective: To evaluate the implementation of a new streamlined service delivery model for cochlear implant (CI) patients at a mature academic CI program.
Setting: Tertiary referral center.
Patients: CI candidates and CI users.
Introduction: Hearing loss is a common sensory disorder that impacts patients across the lifespan. Many genetic variants have been identified that contribute to non-syndromic hearing loss. Yet, genetic testing is not routinely administered when hearing loss is diagnosed, particularly in adults.
View Article and Find Full Text PDFImportance: Decision regret post-surgery has has been linked to health outcomes for a number of elective procedures but is understudied in cochlear implantation satisfaction. Theunpredictability in outcomes may lead to unmet expectations by the recipient. This study is the first study to investigate the decision regret concept in cochlear implant recipients.
View Article and Find Full Text PDFArticle Synopsis
- - The study analyzed 127 individuals from 16 medical centers across 6 countries to examine the relationship between TMPRSS3 gene variants and hearing loss, revealing 47 unique variants and their impact on hearing thresholds.
- - Individuals carrying missense variants showed different hearing loss progression rates and performance in speech recognition tests post-cochlear implant, with age at implantation being a critical factor.
- - This research represents the largest investigation into TMPRSS3 genotype-phenotype correlations, offering valuable insights for genetic counseling and developing new treatments for hearing loss.