Down syndrome is sadly the most common genetic disorder in the United States, affecting 1 out of every 700 people born every year. The cause is determined as the presence of a third copy of chromosome 21. Down syndrome imposes some physical and mental developmental impairments onto the person, making their life incredibly difficult in a plethora of ways. Because the parents of a person with Down syndrome have to put in way more effort to support their child than normal parents, it can be easy to get lost in all the potential health risks and prevention methods and accidentally overlook one of the most problematic things about this syndrome – the person’s ability to sleep properly.
This article aims to help the parents of people with Down syndrome provide quality assistance when it comes to establishing a healthy sleeping routine, and will include information on Down syndrome in general. Let’s get into it:
A General Overview of Down Syndrome
Down syndrome has more than a handful of signs you can use to recognize it, in terms of the person’s physical appearance. When it comes to their face, one of the best ways to spot Down syndrome is a facial structure that looks flattened, especially around the bridge of the nose. The eyes may look odd-shaped, typically slanted upwards. Smaller ears and the presence of a tongue sticking out are also common physical indicators of Down syndrome.
The face isn’t the only part of the body that is affected, far from it. People who have Down syndrome are often shorter than average and tend to have noticeably shorter necks. Their hands and feet are also often on the small side, with the pinkies of each hand curving towards the thumb. Down syndrome people also tend to have poor muscle tone and loose joints. Other signs include stunted growth, mental impairment, teeth abnormalities, and similar symptoms.
Down syndrome has one known cause – the presence of either a part or an entire third copy of chromosome 21. This extra chromosome contains genes that are the direct cause of all the issues people with Down syndrome have to deal with. It’s a little known fact that there is more than one kind of Down syndrome – there are three, although two of these are very rare. Trisomy 21 is by far the most common type, affecting around 95% of all people with this syndrome. This type is characterized by the fact that every single cell in the person’s body has a third copy of chromosome 21. Translocation Down syndrome happens when only a part of the third chromosome manifests, attached to one of the other copies. It affects only around 3% of people with Down syndrome. Mosaic Down syndrome takes up the remaining 2% of the population who have to deal with this condition, and it’s defined by a state where only some cells have a third chromosome copy.
Unfortunately, doctors still haven’t been able to pinpoint what causes the appearance of a third copy of chromosome 21. The main factor that seems to affect the likelihood of a child being born with Down syndrome is the mother’s age. Mothers aged 35 or older have a considerably higher chance of birthing a child with Down syndrome than younger mothers, although research hasn’t shown why this is the case. While we will mainly focus on sleeping problems, it’s crucial to present a list of other health problems that unfortunately affect people with Down syndrome, some of which can be life-threatening during the first year of life. The list goes as follows:
– Ear infections affect around 50-70% of all people with Down syndrome. On top of this issue, around three-quarters of all Down syndrome patients experience hearing loss at some point in their life.
– Epilepsy can manifest in affected individuals. The older they are, the more likely it is, with around a half of Down syndrome adults older than 50 years having to deal with epilepsy.
– People with Down syndrome are more susceptible to obstructive sleep apnea – to the point where a majority of them are affected by this sleep-related breathing disorder. We will go into more detail later on in the article.
– Around 60% of all people dealing with Down syndrome also suffer from eye diseases or poor vision. It is very common for this problem to occur at a young age.
– Half of Down syndrome patients suffer from heart defects
– While they’re not as common as the above-mentioned conditions, people with Down syndrome can encounter one or more of the following problems: anemia, leukemia, thyroid disease, hip dislocation, etc. Caretakers should monitor Down syndrome patients carefully and regularly for signs of these conditions.
Diagnosis and Treatment
Down syndrome diagnosis tests are done during pregnancy. The first steps taken to determine whether a child will have Down syndrome (or another genetic disorder) are almost entirely non-invasive – these tests are used in the screening phase, and their purpose is to determine if a risk exists in the first place. The most typical tests you encounter at this stage are blood tests and ultrasound scans. The ultrasound scan looks for indicators like a pocket of fluid behind the baby’s neck – a clear sign of a possible genetic disorder, especially Down syndrome. If these tests return positive, further diagnostic steps are conducted, including chorionic villus sampling (CVS), percutaneous umbilical blood sampling (PUBS) and amniocentesis. These tests are designed to detect chromosomal changes in the mother that indicate the presence of Down syndrome in the child.
Unfortunately, Down syndrome cannot be treated in the conventional sense; there is no cure for this disorder. However, that doesn’t mean your hands are tied if a loved one is dealing with Down syndrome. There are methods of speech therapy, physical therapy and occupational therapy that improve the development of the patient, helping them function closer to what is considered “normal.” As a consequence of these methods, and recent medical advancements in general, the survival rate has drastically increased for people with Down syndrome.
How Down Syndrome Affects Sleep
Just by looking at the physical symptoms listed earlier in this article, you can imagine a whole host of potential sleeping disorders and complications – Down syndrome sadly causes a lot of sleeping issues for the person in question. Research has shown that people with this genetic disorder experience much more frequent nighttime awakenings and sleep significantly less. Children with Down syndrome have worryingly high levels of bedtime resistance and anxiety compared to those who do not have this genetic disorder. On top of that, around 40% of these children wake up at least once per night.
If you know anything about sleep architecture and circadian rhythms, you are already aware of how devastating this combination of problems can be. Nighttime awakenings lead to what is called fragmented sleep – a situation where your natural progression between sleep stages is disrupted. While sleeping, we transition in and out of three main stages – light sleep, deep sleep, and REM sleep. All of these are important for our physical and mental development and repair, learning and immune system maintenance. However, deep sleep and REM sleep are cut short if the sleeper keeps waking up, as it takes time to transition into these stages. As a result, the person’s circadian rhythm is ruined, and they suffer a number of health-related consequences such as increased risk of illness, fatigue and slower recovery from bruises and muscle strain.
Children with Down syndrome are significantly more prone to bedwetting, sleep bruxism, sleep talking and similar conditions. Luckily, these problems tend to subside with age, as long as the child is given proper care and developmental support. Unfortunately, that doesn’t mean they’re in the clear. No matter the age of the person in question, people with Down syndrome face an almost unavoidable sleep disorder – sleep apnea.
Obstructive sleep apnea has been discovered in around 31% of all infants in the United States, according to recent research. This statistic transitions into a value of around 30-60% of all children with Down syndrome. Adults with this genetic disorder have it the worst, by far – 80% of affected adults also suffer from obstructive sleep apnea. The main reason for this problematic statistic ties back to physical deformities found in individuals with Down syndrome. Their enlarged tongues, jaw abnormalities, and tighter airways lead to a much higher chance of physical blockages in the air canals. Factors like obesity and loose muscle tone contribute to OSA for basically everyone, and Down syndrome people often deal with both.
Here’s another scary fact – obstructive sleep apnea is a much bigger threat to people with Down syndrome. This genetic condition often comes with health complications and conditions that are not related to OSA directly, such as heart defects. These conditions get worse and worse thanks to the damaging effect of OSA-induced lapses in breathing during the night. This interaction between OSA and other conditions frequently leads to an early death.
Obstructive sleep apnea is also sometimes harder to diagnose in individuals with Down syndrome since the symptoms can get lost in a variety of other defects and problems. It lets OSA “sneak under the radar” and wreak havoc on the person’s health before proper treatment is administered. Down syndrome, when combined with OSA, causes a sleep time reduction of around one full hour on average. Because this is extremely harmful in the long run, experts strongly recommend a full sleep study to parents of children with Down syndrome, before the kids hit 4 years of age.
Helping People With Down Syndrome Sleep
For the sake of the long-term health of people with Down syndrome, caretakers and parents are often given lots of advice on how to provide quality assistance and help the person achieve a good sleep schedule. Some of these recommendations revolve around product purchases that make sleeping easier; others revolve around lifestyle guidance you can apply to their routine. Before making any significant changes in the patient’s daily routine, you may want to put them through a full sleep study, since that results in accurate and reliable professional advice.
Mattresses that are built to deal with regular bedwetting should be a priority purchase if you’re in charge of someone with Down syndrome. This mainly affects children but is not exclusive to them. Make sure the mattress and its covers are easy to clean and waterproof enough to retain their durability over years of use.
Due to how common sleep apnea (especially OSA) is in people with Down syndrome, you will almost surely be forced to purchase a CPAP machine. This machine provides pressurized and humidified air straight to the person’s airways, completely preventing night-time lapses in breathing.
If the patient is prone to falling out of bed or having seizures, you may want to invest in low-profile bedding. It’s all about giving them less room to potentially injure themselves. For the same reason, padding is often recommended for the bed rails, which drastically reduces the risks associated with head-banging and flailing.
One of the most important behavioral methods for dealing with Down syndrome is the establishment of a strict, regular sleeping routine. Try to spend an hour before bedtime each day engaging in relaxing activities with the person affected by Down syndrome. It trains their mind to associate these activities with sleep, and prepare for sleep in advance. Remove distractions from their room that could increase sleep onset latency (how long it takes for them to fall asleep) – this can be done by physically removing tempting objects or introducing white noise machines or bedroom fans that drown out any unwanted noise. Make sure to lower the bedroom temperature as you prepare to send the person to sleep, and eliminate all unnecessary light sources.
Carefully manage the person’s diet. It should go without saying that an unhealthy diet can lead to disastrous complications in Down syndrome patients, as they already potentially suffer from heart problems, digestive problems, and similar conditions. Avoid sweets, caffeine, and alcohol in particular, and count their calories – obesity is hard to prevent, and requires diligence and strict planning.
Make sure to offer positive reinforcement to the person with Down syndrome when they cooperate with these methods and accomplish things. Establish reward charts that let their mind create a positive association between healthy sleeping habits and desirable treats and rewards. It will make them happy to follow a good sleep schedule and it will pay off in the long run.
Co-founder of Counting Sheep and Sleepaholic