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ABSTRACT INFORMATION
Title: 'Understanding the Etiology of Hearing loss: From Detection to Diagnosis.' Track: 1-EHDI Program Enhancement Keyword(s): Genetic testing, genetics of hearing loss, genetic diagnosis Learning Objectives: 1. Audience should be able to recognize the need for Medical Genetics consultation in all individuals with hearing loss 2. Audience should be able to recognize the most common causes of hearing loss 3. Audience should be able to recognize the implementation of a the medical home for individuals with hearing loss Abstract: Authors: Michelle W. Escobar 1,2 , Luis F. Escobar 1,2,3 Affiliations: 1) Early hearing detection and intervention program, Indiana State Department of Health, 2) Peyton Manning Children's Hospital, 3) American Academy of Pediatrics, Indiana Chapter. The recent implementation of effective mechanisms of hearing loss detection by the EHDI progam has resulted in the need of clear understanding of the etiology of hearing loss and the recognition of at risk populations. Depending on the causes, plan of care should be individualized for each affected individual under the medical home format suggested by the American Academy of Pediatrics. Because of the relatively fast advancement in the understanding of the genetic causes of hearing loss, medical geneticists have frequently taken over the coordination of care for patients with hearing loss. In fact, the Online Menendelian Inheritance in Man web site lists more than 950 genetic conditions associated with hearing loss. We discuss here how participating in the National Initiative for Childrens Healthcare Quality learning collaborative project reduced the number of infants lost to follow up born at our institution. We also discuss the downstream consequences of an improve detection system, creating the need for propper referrals and evaluations after detection. Because of the complexity of the etiology of hearing loss, the role of the Medical Geneticist has been redefined. We discuss here situations in which genetic evaluation was essential for the propper counseling and evaluation of patients with hearing loss and also discuss common genetic disorders that cause hearing deficits. We emphasize the need to organize propper medical follow up for children detected as having hearing loss at an early age. Key: genetic testing, genetic hearing loss, Contact information Luis F. Escobar, MD lfescoba@stvincent.org (317) 338-5288 Presentation: This presentation has not yet been uploaded or the speaker has opted not to make the presentation available online. Handouts: Handout is not Available
SPEAKER INFORMATION
PRESENTER(S): Michelle Wagner-Escobar - Peyton Manning Children'      Credentials: MA, CCC-A      Other Affiliations: Indiana State Department of Health       Michelle Wagner-Escobar is an audiologist at Peyton Manning Children’s Hospital at St. Vincent and a regional audiology consultant for the Indiana Early Hearing Detection and Intervention (EHDI) program. She obtained her master’s degree in Audiology from the University of Iowa. Luis F. Escobar - Peyton Manning Children's Hospital      Credentials: M.D., M.S.      Other Affiliations: Indiana University       Dr. Escobar serves as the AAP Indiana Chapter Champion to EHDI. He is the Medical Director for Medical Genetics Services and Newborn Follow up at Peyton Manning Childrens Hospital at St. Vincent. His interest is birth defects, dysmorphology and the management of birth defects in the newborn period. He has published an extensive number of peer review articles and book chapters in the Medical Genetics literature.   AUTHOR(S): Michelle Wagner-Escobar - Peyton Manning Children'      Credentials: MA, CCC-A      Other Affiliations: Indiana State Department of Health       BIO: Michelle Wagner-Escobar is an audiologist at Peyton Manning Children’s Hospital at St. Vincent and a regional audiology consultant for the Indiana Early Hearing Detection and Intervention (EHDI) program. She obtained her master’s degree in Audiology from the University of Iowa. Luis F. Escobar - Peyton Manning Children's Hospital      Credentials: M.D., M.S.      Other Affiliations: Indiana University       BIO: Dr. Escobar serves as the AAP Indiana Chapter Champion to EHDI. He is the Medical Director for Medical Genetics Services and Newborn Follow up at Peyton Manning Childrens Hospital at St. Vincent. His interest is birth defects, dysmorphology and the management of birth defects in the newborn period. He has published an extensive number of peer review articles and book chapters in the Medical Genetics literature.