Early Detection and Aggressive Management of Otologic Pathologies in Children with Down Syndrome

A 13-year-old boy with Down syndrome (DS) presents to the pediatric otolaryngologist after being lost to follow-up for several years. The child is accompanied by his stepmother, who has recently been granted full custody together with his father. The stepmother states that the child's mother was non-compliant with his medical care and now, as she describes it, they are "playing catch-up." According to his stepmother, he has a history of recurrent ear infections and had tympanostomy tubes inserted in the past (date(s) unknown). The child has several other co-morbidities including severe obstructive sleep apnea (OSA), premature ventricular beats and possible hypothyroidism. He receives services in school for his speech and language delays in addition to regular physical and occupational therapy. The child was referred by his pediatrician who initially sent him for an audiological evaluation after failing a hearing test in the office. The child's audiogram is consistent with bilateral, severe mixed sensorineural (SNHL) and conductive hearing loss (CHL) and reveals small canal volumes consistent with bilateral middle ear effusions (MEE). The physical exam also reveals bilateral MEE and possible cholesteatoma in the right ear, consistent with chronic otitis media. This case highlights the need for early education of families in the primary care setting when the diagnosis of DS is made, in order to ensure that the child receives adequate care to maximize developmental potential and quality of life.