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Indian healthcare industry notes that new drug therapies provide new avenues of hope but a comprehensive approach remains key to achieving long-term benefits for those affected with Down syndrome.
Down syndrome is a genetic disorder where the individuals will have 47 chromosomes and intellectually disabled. On World Down Syndrome Day, observed annually on March 21, this year’s theme is ‘All about Support’.
Dr P Venkata Krishnan, senior consultant, Internal Medicine, Artemis Hospitals said, scientists are working on developing new medicines to enhance learning and memory in individuals with Down syndrome. Certain medicines will help increase brain activity by interacting with a specific gene or chemical process within the brain. These treatments are just beginning, with limited clinical trials. The high cost of research, safety and ethical issues hinder the progress.
Dr Sampath Kumar Shettigar, sr. consultant- paediatric & neonatologist, Kinder Hospitals, stated that early stage DYRK1A inhibitor, metabolic and inflammatory medications trials have shown positive results in their preclinical and preliminary phase stages. The next hurdle of converting them into authorized treatment options is where the complications begin. Ethical challenges pertaining to paediatric drug trials along with their cognitive assessment, high funding requirement, and the genetic intricacy makes it complicated. Purchase of newer therapies in low and middle countries where there is a supply of expensive, advanced procedures with no affordability.
Growing interest has emerged in developing pharmacological intervention for Down syndrome patients considering their cognitive abilities, neurodevelopment, and other health issues. Although the progress of the drugs may add new hope, they still need caregiver support, doctor, and society’s active involvement along with the new and existing medical treatment to improve the quality of life of these cases, said Dr Kumar.
Another challenge is that most Down syndrome cases, particularly the economically backward cannot afford appropriate medical treatment. More funding and research are needed to develop effective cost-effective therapies for Down syndrome cases to have equitable healthcare access globally, added Dr Venkata Krishnan.
Noting that conventional medicines focus on symptom management, emerging research suggests Yoga and naturopathy can enhance cognitive function, motor skills, and overall well-being, Dr Narendra Shetty, chief wellness officer, SDM Kshemavana noted that naturopathic interventions, such as dietary modifications and supplements, have also shown promise.
A study published in the Journal of Bodywork and Movement Therapies found yoga improved balance, flexibility, and strength in individuals with Down syndrome. As we strive for inclusive healthcare, integrating yoga and naturopathy into treatment plans can bring new hope for Down syndrome cases, added Dr Shetty.
A large patient population, growing pharmaceutical industry along with government initiatives promoting rare disease research and orphan drug development make it an attractive market for treatment. However, challenges persist, including limited access to healthcare, inadequate diagnosis and screening, and affordability concerns. To address these, priorities should include rehabilitation and training for patients, regular evaluation of thyroid function, vertebrae, dentition, cardiac function, hygiene training especially for girls, sterilization of vulnerable patients if needed, and genetic counselling for pregnant women to detect Down's syndrome risk, said Dr Preeth Shetty, consultant-paediatrics, Fortis Hospital.
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