Tympanic membrane retractions in patients with Williams Syndrome : a controlled study

Introduction The role of elastin in tympanic retractions and chronic otitis media is not well established. Williams Syndrome (WS), a pathology related to a mutation in the elastin gene, could generate tympanic retractions. Objective To compare the prevalence of tympanic retractions among patients with WS and controls. Methods WS patients (n = 43 ears) and controls (n = 130 ears) were evaluated by digital otoscopic examination and the degree of tympanic membrane retraction was classified by 2 blinded experienced otolaryngologists. Results The agreement rate between the evaluators was 71.1% for pars tensa and 65% for pars flaccida retraction (p < 0.001). The pars tensa and pars flaccida retractions are present in patients with WS after an adjusted residue of respectively - 2.8 and - 2.6 (p = 0.011 and p = 0.022) compared with controls. Conclusions Tympanic membrane retractions are not more common in the WS group when compared with controls

Etiologia dos defeitos do fechamento de tubo neural : papel dos polimorfismos em genes relacionados ao metabolismo do ácido fólico

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Does universal newborn hearing screening impact the timing of deafness treatment?

Objective To evaluate the impact of the Universal Neonatal Hearing Screening (UNHS) on the age at diagnosis, beginning of treatment, and first cochlear implant surgery. Methods A retrospective cohort study with children up to 12 years old with bilateral hearing loss were divided into two groups: patients who underwent UNHS and the ones who didn't. The groups were compared according to their age at the beginning of the evaluation at a specialized center, at the beginning of the intervention, and, for the ones who had indication, at the cochlear implant surgery. The group who underwent UNHS was divided between the ones who passed the screening test and the ones who didn't. They were compared according to their ages at the same moments as the first two groups. Results 135 patients were included. The median age at the first appointment in a specialized center was 1.42 (0.50 and 2.50) years, at the beginning of treatment 2.00 (1.00 and 3.52) years, and the cochlear implant surgery 2.83 (1.83 and 4.66) years. Children who underwent UNHS were younger than those who didn't, at the three evaluated moments (p < 0.001). In a subanalysis, children who passed the UNHS but were later diagnosed with hearing loss reached the first appointment with a specialist and started treatment older than those who failed the tests. Conclusion Performing UNHS interfered with the timing of deafness diagnosis and treatment. However, children who passed the screening but were later diagnosed with hearing loss were the category with the most important delay