Marieflor Cristy Garcia’s research while affiliated with University of the Philippines Manila and other places

A duplication variant within the middle ear-specific gene A2ML1 cosegregates with otitis media in an indigenous Filipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone European-American and Hispanic-American children but is absent in non-otitis-prone children and >62,000 next-generation sequences. We identified seven additional A2ML1 variants in six otitis-prone children. Collectively, our studies support a role for A2ML1 in the pathophysiology of otitis media.

Objective: To determine the prevalence of hearing loss among infants six months old and below sent for newborn hearing screening in our institution, and to measure the accuracy, sensitivity, specificity and positive predictive values of reflexive behavioral (“Baah”) test in detecting hearing loss in infants. Methods: Design: Cross-sectional study Setting: Ear Unit of a tertiary government hospital Participants: Infants less than Six months old sent for newborn hearing screening at the Ear Unit of a tertiary government hospital from April to September, 2011 were recruited. All participants were tested with OAE for hearing screening. OAE was also used as the standard for evaluating hearing impairment. The reflexive behavioral (“Baah”) test was then done using the human voice as a loud sound stimulus, and the response recorded were auropalpebral, startle and blinking response to the sound. The sensitivity, specificity, accuracy, positive and negative predictive value of the test was then measured. Results: From April to September 2011, a total of 101 patients were tested, with a male to female ratio of 1.1:1 (53 males, 48 females). The prevalence of hearing impairment in this study population was 6.9% (7 out of 101). The reflexive behavioral (“Baah”) test was found to have sensitivity of 71.4%, specificity of 95.7%, accuracy rate of 94%, positive predictive value of 55.6% and negative predictive value of 97.8%. Conclusion: The reflexive behavioral (“Baah”) test shows potential as an accurate, acceptable and cost-effective screening tool to identify infants that may be at higher risk for hearing impairment. This test may aid the health care providers, in areas without OAEs, in identifying infants who are in need further hearing diagnostic evaluation, with OAEs or other hearing tests. It is recommended that the “Baah” test be implemented in the community to test its reproducibility in a larger population and outside the hospital setting. Keywords: reflexive behavioral test, “Baah” test, otoacoustic emission, hearing screening