Down syndrome is the most common genetic cause of learning difficulties, affecting 5.8 million people worldwide.
Subjects with Down syndrome are predisposed to certain medical conditions and are at a lower risk than the rest of the general population for others. According to available data from the Global Down Syndrome Foundation, from those people born with Down syndrome, 50% will also present a congenital heart defect, among the oldest 70% will have sleep apnea disease and Alzheimer’s disease will be present in more than 50% of the cases. Other conditions, such as hypothyroidism, celiac disease, autism, childhood leukemia and epilepsy are also more frequent than in general population. However, cardiovascular disease or solid tumors have been found less frequently.
Research is the way in which knowledge advances. Without research, it is no possible to move forward and find a way to improve. By researching the effects of Trisomy 21, scientists can help improve the lives of people with Trisomy 21 themselves and their families and caregivers. Starting with early therapies directed to improve the child’s development but also finding treatments for health comorbidities and supporting health since childhood along youth and adulthood of the person with Down syndrome and accompanying him/her along aging will enable him/her to live a life as full as possible. However, the availability of the appropriate care directly depends on the research that has been performed to reach that knowledge, thus, research is mandatory to improve their wellness and thatof those around them.
Research can be performed from different approaches:
Medical or clinical research: Medical or clinical research is the branch of healthcare science that refers to all research carried out on humans (healthy or sick people). It focuses on improving knowledge of diseases, developing diagnostic tools and treatments or interventions to ensure better patient care. It must always comply with ethical and legal standards. Clinical trials are research studies in which medical or intervention procedures are tested in people. Every drug that is commercially available has several clinical trials behind supporting its safety, efficacy and usefulness, thus, clinical trials are mandatory to approve new treatments. Evidences about particular interventions that help people with Down syndrome should be included in medical guidelines, the documents that guide doctors along the health care needs of people, in this case, with Down syndrome. Thus, medical or clinical research can improve the health and lifespan of people with Down syndrome.
Basic or laboratory research: Basic or laboratory research is conducted to increase understanding of fundamental life processes. Before an intervention can be applied to people, it must be tested in the laboratory first. Basic and clinical research should go hand-in hand to link molecules to population and so, they will provide a comprehensive understanding of the diseases.
In brief, as occurs in general population, research is mandatory in Down syndrome to answer questions that are basic to understand what is going on, and that is the only way to find solutions to help people.