Obstructive Sleep Apnoea and Down Syndrome

Obstructive Sleep Apnoea and Down Syndrome

Obstructive sleep apnoea (OSA) is one of the most common conditions affecting individuals with Down syndrome. Research indicates that approximately 60% of children with Down syndrome experience abnormal sleep patterns up to the age of four, and between 30% and 75% will develop obstructive sleep apnoea at some point in their lives.

Why the Increased Risk?

Several anatomical and physiological factors make individuals with Down syndrome more susceptible to this condition, including:

• Relatively small upper airway passages
• Reduced muscle tone (hypotonia)
• Larger tongue relative to the size of the mouth (macroglossia)
• Enlarged tonsils and adenoids
• Shorter neck
• Obesity and excess weight
• Distinctive facial features associated with Down syndrome

Diagnosis

A sleep study (polysomnography) is the gold standard for diagnosing obstructive sleep apnoea. It is important to note that common nocturnal symptoms — such as snoring and restlessness during sleep — may not be reliable indicators in this population, as they are often absent even in severe cases. For this reason, the American Academy of Pediatrics recommends that all children with Down syndrome undergo a sleep study between the ages of three and five, as well as whenever suspicious symptoms arise.

Symptoms

Warning signs to watch for include:

• Snoring, grunting, or wheezing during sleep
• Brief pauses in breathing
• Persistent mouth breathing
• Frequent night-time awakenings
• Sleeping in unusual positions (such as with the neck bent forward)
• Bedwetting (nocturnal enuresis)
• Excessive daytime sleepiness or difficulty concentrating
• Decline in cognitive and behavioural skills

Treatment Options

Treatment options vary depending on the severity and underlying causes of the condition:

Tonsillectomy and Adenoidectomy

Surgical removal of the tonsils and adenoids is considered the first-line treatment in most cases. However, it does not always achieve complete resolution, given the multiple contributing causes of obstruction. Success rates in individuals with Down syndrome are estimated at only 30–50%, compared with approximately 80% in the general population.

Continuous Positive Airway Pressure (CPAP)

CPAP therapy is recommended for moderate to severe cases, or when tonsillectomy and adenoidectomy prove insufficient. Adjustment to CPAP use may take some time, but it leads to marked improvement in sleep quality.

Other Interventions

• Weight loss in cases of obesity
• Oral appliances designed to widen the airway
• Oral and throat muscle exercises (myofunctional therapy)
• Surgery in selected cases

Impact on General Health

If left untreated, obstructive sleep apnoea can adversely affect multiple areas, including:

• Cardiovascular health (hypertension, heart disease)
• Cognitive development and memory
• Behaviour and attention
• Growth (through disruption of growth hormone secretion during sleep)
• Overall quality of life

Recommendations

It is advisable to speak with a paediatrician or sleep specialist if any of the above symptoms are observed, or if the child shows signs of fatigue or difficulty concentrating during the day. Early detection and appropriate treatment can make a genuine difference to an individual's quality of life.

Source: Information in this section has been reproduced under an exclusive agreement with the National Down Syndrome Society (NDSS). Available at: www.ndss.org