What is Down Syndrome?
Down Syndrome is a genetic disorder caused by the expression of a full or partial extra copy of chromosome 21.
It typically causes delays in a child’s physical and mental development and is associated with a distinct facial appearance, intellectual disability and weak muscle tone.
The disorder can be diagnosed prenatally (screening and diagnostic tests) or after birth (diagnostic tests and monitoring physical traits).
Children born with Down Syndrome may have various birth defects such as heart problems, gastrointestinal complications, hearing loss, and respiratory problems. Most of these problems can be treated.
Stem Cell Treatment for Down Syndrome
There is no known cure for Down Syndrome yet however scientists continue to study treatment methods that help manage the symptoms. Stem Cell Treatment is one procedure that promises to improve the quality of life Down Syndrome patients.
Doctors in New Delhi have reported improvement in the quality of life of a three-year old after undergoing Stem Cell Treatment for Down’s Syndrome.
This male child was born preterm due to premature rupture of membranes and was at the intensive care unit for 2 days due to respiratory distress. At 2 months, the baby was admitted at a Delhi-based medical facility with complaints of subnormal motor activity, no neck holding capacity, slanted eyes and delayed milestones.
According to the case report by Geeta Shroff, the patient underwent 2 sessions of Stem Cell Treatment. After the treatment sessions, the patient showed great improvement. He was discharged 8 months later having made remarkable strides: he had better understanding, better muscle tone of limbs and ability to recognise nearby placed objects.
In Geeta’s own words: “The understanding of [the] patient was improved and muscle tone was better in all limbs. He started babbling and crawling. He was social and was able to recognise his near ones.”
There were no adverse effects to the treatment reported.
The procedure used stem cells that were harvested from a single spare fertilised egg which would have otherwise gone to waste. The human embryonic stem cells (hESCs) derived from the egg were transplanted into the patient. After the treatment, tremendous improvement was observed in the patient’s condition.
The abnormality in development and functionality of patients with Down Syndrome is reportedly caused by the abnormal functioning of astroglial cells. When the astroglial cells produce a certain protein in large amounts than normal, it could lead to a negative effect on the development of neurons. This restricts neurogenesis.
In the stem cell research for Down Syndrome, researchers induce patients’ skin cells into a pluripotent state which allows them to develop into neurons and astroglial cells. Astroglial cells assist in neuron development.
In a study by Hibaoui, the induced pluripotent stem cells (iPSCs) were injected into a Down Syndrome patient where they differentiate into neural progenitor cells (NPCs) and then matured into neurons. Since human iPSCs have similar traits as hESCs, hESCs are also able to differentiate into neural cells and tissue.
In the case of the baby, it is possible that the injected hESCs induced normal neurogenesis in the brain thereby correcting the patient’s condition.
Stem Cell Therapy has the potential to provide treatment for various neural and congenital disorders such as Autism, Multiple Sclerosis, Ataxia and Stroke.
H/T: Genetic Literacy Project