Downs syndrome (also called trisomy 21) is a genetic disorder usually caused by an extra chromosome 21. Children with Downs syndrome tend to have many problems like intellectual disability, hypothyroidism, hearing and speech difficulties, obesity, celiac disease, etc.
Children with Downs syndrome commonly experience sleep problems. Sleep problems could be behavioural in nature like bedtime troubles and frequent troublesome night awakenings. Patients with Downs Syndrome also have a high risk of developing sleep apnea. Research has shown that this could be as common as 50-60 % in children and nearly 100% in adults with Downs syndrome. Children with Downs syndrome are more predisposed to have sleep apnea due to multiple factors like a large tongue, large adenoids & tonsils, midface hypoplasia, obesity, hypothyroidism and low muscle tone. Untreated sleep apnea in children with Downs syndrome can have serious consequences like pulmonary hypertension, neurocognitive problems like poor learning, memory and language, poor daytime functioning, and daytime sleepiness.
The common symptoms of sleep apnea are regular snoring with accompanied problems like difficult breathing during sleep, gasps, snorting noises, observed episodes of apneas or stoppage of breathing, sleeping in a seated position or with the neck hyperextended. Daytime features of sleep apnea could be daytime sleepiness, learning problems or attention-deficit/hyperactivity disorder. Although these features are useful for screening children for sleep problems, it might be difficult to predict sleep apnea based on clinical symptoms alone in children with Downs syndrome.
Hence, routine sleep studies are recommended by the American Academy of Pediatrics in all children with Downs syndrome by the age of 4 years, regardless of symptoms. Sleep studies or polysomnography aids early diagnosis and treatment. Treatment of sleep apnea in children with Downs syndrome significantly improves daytime functioning, level of activity, language, speech and memory in addition to a better sleep. Treatment of obstructive sleep apnea includes adenotonsillectomy and CPAP.