Surdez congénita neurossensorial – Proposta para algoritmo de investigação

Introduction: The incidence of congenital, moderate to profound sensorineural hearing loss (SNHL) is estimated in 4 per 1000 births. Traditionally, the etiologies of congenital SNHL have been broadly classified as either hereditary or acquired, and it is estimated that up to 50% of moderate to severe cases are genetic in etiology. To date, there is no consensus diagnostic protocol for children presenting with SNHL. Objectives: This study aims to present a proposal of an investigation algorithm for SNHL in children, based on a review of the literature. Methods: To develop the algorithm, the English and French literature were searched in PubMed with the following key words: “hearing loss/impairment”, “deafness”, “child”. The guidelines of the British Association of Audiovestibular Physicians and British Association of Paediatricians in Audiology (BAAP/BAPA) and the recommendations of the Spanish Committee for Early Detection of Deafness were also studied. Results: Children with severe to profound SNHL should first be tested with a GJB2 screen, as opposed to those with milder SNHL, who should undergo CT of the temporal bone as the initial step. Laboratory investigation should not be routine but based on clinical history. Children with unilateral SNHL should be investigated with imaging. The use of ECG is indicated in severe to profound bilateral SNHL to rule out the presence of a prolonged QT interval, because, in spite of an extremely low yield, it can be life-saving. Conclusions: A stepwise diagnostic paradigm is more efficient and more cost-effective than the simultaneous testing approach.