LM214 - Twenty Questions About 22q Spectrum Disorders

Abstract: With genetic testing becoming more accessible to patients and families, more children are being diagnosed with genetic disorders that previously went undiagnosed. Genetic differences within the long arm of the 22nd chromosome present with a variety of otolaryngological disorders requiring frequent monitoring from audiologists and collaboration with other health-care providers. After a review of basic genetics knowledge, attendees will learn about 22q spectrum disorders, testing adaptations, and hearing loss prevalence for patients with genetic differences within 22q. The presentation will conclude with discussion of 2 case studies.

Summary: After reviewing the 2023, 2022, and the 2019 conference schedule, there was less than one presentation reviewing or relating to genetics per year. Genetics is an emerging pertinent field within audiology with many audiologists having no more than a 5 month overview of genetics, common phenotypes, and their associated syndromes during formal graduate education. While working within the Super Q Express clinic at Children's Mercy for the past 3 years, I have been able to learn far more about genetics disorders, reading genetics reports, and other pertinent knowledge that I would like to pass on to the general population. This interactive session with quizzing throughout and a special prize for the winner will keep participants engaged throughout by showing not only the information, but how the information can guide daily clinical operations when managing and treating patients with 22q deletion related disorders. The participants will walk away knowing more about basic genetics, common otologic presentations, and how to modify testing procedures for these patients that will enable them to more effectively diagnose, treat, and manage patients in this population.