Medical treatments and complementary approaches to trisomy 21 (Down syndrome)
Down Syndrome is a disease that is increasingly understood. Thanks to early management of the medical problems associated with Down’s syndrome such as heart defects, the quality and life expectancy of people with Down’s syndrome has greatly increased.
Today, 80% of adults live to age 55, and some even longer. Many adults with Down syndrome are employed, live semi-autonomously and integrate better and better into society.
No treatment can improve the intellectual capacities of people with Down’s syndrome. However, early follow-up and good support by a team of professionals, throughout life, allows the maintenance of intellectual and physical capacities.
- Hypotonia and hyperlaxity can be improved by treatment in speech therapy which improves language and communication and in physiotherapy, an exercise program adapted to muscle strengthening, endurance and mobility.
- Dental disease and feeding difficulties can be avoided with early management, including hygiene education and chewing training.
- People with Down’s syndrome are aware of their disability very early on. Psychological follow-up is sometimes necessary, in particular during periods of change (for example during the departure of brothers and sisters, a marriage, a death, or during situations of social and professional integration). Psychological follow-up is also important for family members accompanying the person with Down’s syndrome.
New treatments to come for Down’s syndrome Two lines of research are targeted by researchers working to find a treatment to improve intellectual disabilities due to trisomy 21, firstly by acting on the genes responsible for cognitive disorders and secondly by acting directly in the nervous system, in particular on the neurotransmitters (substances that relay information to the brain such as acetylcholine, serotonin, dopamine, GABA, etc.). Several international research teams are involved in this research. People with Down’s syndrome have one extra chromosome 21, which means around 300 extra genes. Of these, only a few are involved in intellectual disability. In recent years, two genes have been identified: the DYRK1A gene and the CBS (cystathionine beta-synthase) gene. Clinical trials are underway to discover molecules that would be able to inhibit the expression of these genes and thus act on the degree of intellectual disability in people with Down’s syndrome. In people with Down’s syndrome, a neurotransmitter, GABA (gamma-aminobutyric acid) is too abundant and causes a slowdown in nerve activity. Since 2011, researchers have been testing the effectiveness of a molecule that could inhibit its action and improve cognitive and behavioral deficits in people with Down’s syndrome. |