Syndromic deafness-prevalence, distribution and hearing management protocol in Indian scenario

BACKGROUND The estimated prevalence of Sensory Neural Hearing Loss (SNHL) in patients less than 18 years of age is 6 per 1000. Roughly 50% of cases of congenital SNHL can be linked to a genetic cause, with approximately 30% being syndromic and the remaining 70% being non-syndromic. The term "syndromic" implies the presence of other distinctive clinical features in addition to hearing loss. The aim of our study was to find the distribution of various Syndromic associations in patients with profound deafness, presented at Madras ENT Research foundation, Chennai and to formulate a management protocol for these patients and to discuss in detail about the clinical features of commonly encountered syndromic deafness. MATERIALS AND METHODS Our retrospective study was aimed at describing the various Syndromic associations seen in patients with congenital profound deafness. Information was collected from the medical records. At our centre all patients undergo a comprehensive evaluation. The distribution, etiological factors and management protocol for various syndromes are here presented. RESULTS Out of 700 patients with congenital profound deafness all patients with Syndromic associations (n = 35) were studied. 5% of profoundly deaf candidates were found to be syndromic. Most common syndrome in our series was found to be congenital rubella syndrome followed by Jervell and Lange-Nielsen syndrome. CONCLUSION Congenital deafness is an associated feature of many syndromes. Detailed history taking with comprehensive evaluation is mandatory to rule out the associated syndromes. Diagnosis must be confirm by a genetic study. Multidisciplinary approach is essential for appropriate diagnosis and management.