Auditory and language features in children with 18q deletion: Our experience and a brief review of the literature

Abstract

Abstract 18q deletion is a rare genetic condition that occurs approximately 1 in 40,000 live births. The aim of this study is to describe four cases of 18q deletion, analyzing their auditory and language skills. A secondary aim is to compare our findings with those reported in the literature in order to propose a standardized assessment protocol and guidelines for auditory treatment and rehabilitation. All children underwent a detailed audiological evaluation including otoscopy, pure-tone audiometry, and auditory brainstem responses. We also administered language and speech tests according to the children’s age and skills. Comorbidities and disease severity varied depending on the genetic mutation. Data from the literature review are consistent with our findings. Therefore, the type of auditory rehabilitation changed among patients. Despite the heterogeneity of phenotypes and severity, hearing loss and stenotic external auditory canals were detected in all our patients with 18q deletion. Accurate diagnosis and follow-up are mandatory to improve auditory and language skills and quality of life. Due to the complexity of the cases, no standardized assessment protocols or treatment can be routinely proposed.