Down syndrome - Otolaryngologic perspective [Trissomia 21 - Perspectiva otorrinolaringológica]

Abstract

Introduction: Down syndrome (DS) is the most common aneuploid disorder at birth. The life expectancy of this group has improved over the last forty years and is now about sixty years. DS patients have specific otolaryngologic (ENT) pathology that demands early evaluation and intervention. This study reviews the described ENT manifestations of DS in the literature, assesses the clinical otolaryngologic finding of a group of 106 DS children and compares their clinical management with guidelines from different institutions. Results: 106 DS children, aged between 3 and 14 years, from all Portuguese regions have been evaluated. An otolaryngologist observed 35,8% of this children for first time. In the group of children with a previous ENT examination more than a half did not have any audiological screening. Upper airway obstruction was the main complaint of their parents. On physical examination the more frequent findings were otitis media with effusion and rhinosinusitis. Conclusion: The majority of the children did not have a ENT evaluation or it was performed to late. Parents are not aware of ENT manifestations characteristic of the syndrome, such as hearing loss and sleep apnoea. It is very important to inform health carers who work with DS patients about the importance of the neonatal hearing assessment and that appropriate ENT follow-up of these children is necessary to maximize speech and language development.