Auditory and Language Features in Children with 18q Deletion: From Diagnosis to Treatment

Introduction: 18q deletion is a rare genetic condition which occurs approximately 1 in 40,000 live births. Site and size of mutation on DNA may be very different among patients. The aim of this study is to describe three cases of 18q, analyzing their auditory and language skills. A secondary aim is to compare our results with those reported in the literature in order to propose a standardized assessment protocol and guidelines for auditory treatment and rehabilitation. Method: We describe the clinical cases of three pediatric patients with 18q deletion. All children underwent detailed audiological evaluations, including otoscopy, Pure Tone Audiometry (PTA) and Auditory Brainstem Responses (ABRs). We also administered them language and speech tests, depending on children age and skills. We propose different solutions for auditory rehabilitation and we compare our patient’s outcomes with those described in the literature. Results: All children showed hearing and narrow External Auditory Canals (EACs). Type of auditory rehabilitation changed among patients. Comorbidities and severity of the disease varied according to the genetic mutation. Data from the literature review are consistent with our findings. Conclusion: Despite the heterogeneity of phenotypes and severity, hearing loss and stenotic EACs 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 could be routinely proposed.