October was National Down Syndrome Awareness Month. The topic is so important that I thought I would write about it this week, even a little late.
Down syndrome is the most common chromosome abnormality among live births. It occurs in one out of 629 births, and over 400,000 Americans are living with Down syndrome. It results in significant intellectual impairment, as well as heart defects, intestinal malformations, and problems with vision and hearing.
Unfortunately, what is frequently underappreciated is the very high incidence of sleep apnea in Down syndrome. It is estimated that 50% of children and 80% of adults with Down syndrome have sleep apnea. This is due to several predisposing factors. People with Down syndrome often have large tongues and floppy muscle tone. There tends to be a narrowing of the midface and they are likely to be overweight. They also are apt to have larger tonsils and adenoids. When this is all taken together, it results in a very high risk of having sleep apnea.
Early diagnosis and treatment of sleep apnea is important in these individuals. The repetitive collapse of their airways is accompanied by severe drops in oxygen. This causes damage to areas of the brain needed for reasoning, intellect, and emotional control.
The high pressures generated in the pulmonary arteries because of sleep apnea can further worsen the frequently found congenital heart defects in those with Down syndrome. Over time, if not treated, a significant amount of blood may flow directly from the right side of the heart to the left, bypassing the lungs and delivering insufficient oxygen to the body. Untreated this can lead to a progressive decline in exercise capacity and eventually death.
What do we look for in children with Down syndrome? Things to be aware of include loud snoring, restless sleep, and sleeping in odd positions such as sitting up and leaning forward. Also, trouble getting out of bed and excessive napping during the day. A shortened attention span and becoming easily irritated or frustrated are other signs of disrupted sleep. If any of these are noticed, it is important to have the child checked out.
What should be done? The American Academy of Pediatrics feels so strongly about the consequences of sleep apnea that they recommended in a 2011 position paper that pediatricians routinely educate parents about the symptoms of Down syndrome and if present, refer them to a sleep specialist.
If the diagnosis of sleep apnea is made, the first step is usually to perform an adenotonsillectomy. However, because the failure rate of the surgery is much higher in children with Down syndrome, a second sleep study to assure effectiveness is always indicated. If still present, then treatment with CPAP (Continuous Positive Airway Pressure) is worth a try. I will admit that it is not always easy to convince a child with Down syndrome to wear a mask to bed. However, with the help of involved parents, I have had many success stories over the years. The take home message is that we in the medical profession and you, the family members need to be very vigilant about the presence of sleep apnea in these children. Treatment can make a huge difference in their health and development.