The Jérome Lejeune Foundation and Institute are wondering how relevant it would be to detect and treat sleep breathing disorders in children with Down Syndrome at an early age.
As is sometimes the case with children living with Down Syndrome, young Mary was born with severe cardiopathy.
Operated on at birth, the results did not come out as hoped. “Although the heart was repaired, red lights still carried on flashing at us from all over” explains Chantal, her mother.
Doctors then noticed that the little girl suffered from severe desaturation at night and suspected sleep apnoea. She was prescribed a polysomnography (examination enabling one to record an individual’s sleep and detect breathing abnormalities and thus measure the quality of the sleep) which showed she had extremely severe sleep apnoea. Immediately equipped, Marie showed progress in only a few hours. Her mother recalls: “In only 24 hours, we saw a clear difference. Among other things, she acquired muscular tone she had never had before. We are convinced that it is primordial for Mary’s brain to be properly ventilated so that it develops properly”. She has been taking a treatment for sleep apnoea for two years now. She is fine and has got used to the ventilation device she “happily goes back to every night”.
Bad brain oxygenation
Doctor Aimé Ravel, geneticist and head of the consultation department at the Jérôme Lejeune Institute, who has been following the little girl’s development since she was born, has looked into this question with great interest. “This case illustrates an intuition I have had for many years, because the physiological structure of people with Down Syndrome often causes sleep apnoea and bad brain oxygenation at night, at the very time when it needs to build and develop.”
Confirming Aimé Ravel’s intuition, statistics show a strong prevalence of sleep apnoea, 10 times superior in young children with Down Syndrome than in the general pediatric population. This rate increases with age and reaches 90% for adults with Down Syndrome. Disorders are more frequent but also more severe. However, as certain American recommendations do not include polysomnography before the age of 4, sleep apnoea is rarely detected in young children and is disregard. Treatments do exist though, such as the removal of the tonsils or night ventilation. Doctor Ravel believes that “an earlier diagnosis, before 6 months and during the first 3 years of the child’s life, would probably help to develop better neurocognition and behaviour.
Repercussions on cognitive development
The experience with young Marie confirms that sleep apnoea does have repercussions on the psychomotor and cognitive development in people with Down Syndrome at any given age throughout their lives. Besides, many clinicians and clinical trials on small numbers have provided evidence that babies with Down Syndrome, whose breathing disorders were treated during the first weeks of their life, had a much better neurocognitive and psychomotor development and less behaviour disorders than others.
In other words, we may have an equation easy to solved to offer to thousands of human beings a better quality of life and therefore greater autonomy.
A research program coming soon
In collaboration with the Necker Hospital and more particularly with Professor Brigitte Fauroux, head of the non-invasive ventilation and child’s sleep unit, the Jérôme Lejeune Institute has been thinking about launching a program aiming at assessing the benefit of systematic testing of sleep apnoea in young babies associated with optimal correction of this disorder. Obviously, it will be piloted at the Jerôme Lejeune Institute which receives about 1/3 of the children born with Down Syndrome in France every year, i.e., about 150 children. Of course, the question of how the program will be funded still remains, and will be looked into during the coming weeks by the board of directors of the Jérôme Lejeune Foundation, as soon as the project is finalized and validated by the various parties involved.
Marie’s mother uses simple words to summarize the challenge: “Yes, Ok, stimulation is important, but sleeping well is essential!”.