Down Syndrome, Sleep and Associated Disorders: Across the Life Span
Sleep disorders, as well as sleep problems, are extremely common in individuals with Down syndrome (DS), with many issues presenting at birth and persisting throughout the life span. Ensuring that sleep assessment is included throughout the life continuum for patients with DS is quite important, as sleep issues may contribute to behavior and cognitive issues or good sleep may contribute to better functioning. Knowledge and appreciation about this condition, as well as treatment options related to sleep and associated disorders for the individual and families, are essential for the sleep health professional, as the sleep problems we face as a society are exacerbated in individuals with DS. Similar to the lack of sleep inquiry in the general population, it may be that much more needs to be done to address this significant issue in this population.
Overview of Down Syndrome
Screening may consist of maternal blood sampling and sonograms. They are usually performed for all pregnant women, and diagnosis can be made prenatally at various time points — chorionic villi sampling at 10-12 weeks, amniocentesis at 14-20 weeks and percutaneous umbilical cord sampling at 18 weeks. There are times in which the diagnosis may not be made until after birth. In any instance, the family will need support and counseling regarding the diagnosis and engagement with social services and other specialists as soon as possible to ensure smooth transitions into childhood and beyond.
There are three variants of DS. The most common is trisomy 21, which occurs when there is an additional copy of chromosome 21 (i.e., three instead of two). Translocation occurs when chromosome 21 is attached to another and mosaic occurs when some, but not all, of the cells have an extra chromosome 21. Mosaicism is the least common of the variants, and these individuals may have less disability than those with the other types. The average life span of individuals with DS has increased over time from about 25-30 years of age to around 60 years of age.
Comorbidity and Chronic Illness
There are higher levels of a variety of comorbidities in people with DS than in the general population. These include congenital heart defects, pulmonary hypertension, diabetes and thyroid dysfunction, vision and hearing deficits, gastroesophageal reﬂux, and sleep disorders. Cognitive ability may also be impacted by associated comorbidities in many individuals, such as comorbid autism in adults with DS.
One of the most common problems, particularly in children, is a poor immune system response. As we know, poor sleep/sleep deprivation from any cause may exacerbate a compromised immune system. Poor immune response contributes to frequent colds and congestion, potentially leading to pneumonia. Respiratory infections and complications impact the family, but also affect the health care system, as patients with DS who need to be hospitalized usually take longer periods of time to recover and may experience ongoing morbidity and mortality. Thyroid dysfunction and obesity may also contribute to sleep issues, especially since the obesity rate in individuals with DS is significantly higher than in typically developing (TD) children, although overall obesity is on the rise.
To learn more about Down syndrome, sleep and associated disorders, read the full article in 2021 Q3 issue of A2Zzz.