How common are ear, nose and throat disorders in children with Noonan syndrome and other RASopathies?

Abstract

Introduction: Noonan syndrome and related conditions (RASopathies) are known to be associated with abnormalities in many organ systems. It is our impression that few otolaryngologists are familiar with the manifestations of these syndromes and we therefore reviewed our hospital's patient cohort to identify the prevalence of ear, nose and throat disorders in these children.

Methods: We cross-referenced various hospital department databases (otolaryngology, audiology, cardiology, haematology and genetics) to try to identify as many children with Noonan and other RASopathies as possible. We then performed a retrospective review of electronic patient records.

Results: We identified 67 children with Noonan, Costello, LEOPARD and other RASopathy syndromes. Around half have been seen in otolaryngology and audiology clinics. Otitis media with effusion requiring ventilation tubes occurred in 4% of children. 10% have suffered recurrent acute otitis media. 9% have a sensorineural hearing loss. 7% have undergone adenotonsillectomy for obstructive sleep apnoea. Airway anomalies and head and neck malformations occur but are rare.

Discussion: Children with Noonan and other RASopathies present commonly to otolaryngology and audiology clinics. The prevalence of sensorineural hearing loss is high and audiological screening is likely to be worthwhile. Surgeons should be aware that complications of surgery are common and can be very severe, especially in those with cardiac anomalies.

Keywords: Children; Costello syndrome; Head and neck anomalies; Hearing disorders; LEOPARD syndrome; Laryngeal anomalies; Legius syndrome; Noonan sydrome; Obstructive sleep apnoea; Otitis media; Otolaryngology; Rhinosinusitis; Tonsillitis; Tracheal anomalies.