World Down Syndrome Day 2017: All you need to know about the genetic disorder

Nupur Jha
World Down's Syndrome Day, Down's Syndrome, disease, genetic disorder,

World Down Syndrome Day (WDSD), observed on March 21 every year, is a global awareness day which has been officially observed by the United Nations since 2012. Those diagnosed with this genetic disorder partake in activities and events across the world with the aim to alert people.

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Down Syndrome (DS) is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down Syndrome is 50, equivalent to the mental ability of an eight or nine-year-old child, but this can vary widely.

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The date for WDSD being the 21st day of the 3rd month, was selected to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes Down syndrome.

"The condition occurs in approximately 1 of 830 live births. It is associated with delayed physical and mental development, mild to moderate learning disabilities, facial changes and low muscle tone of the affected individual," Dr Pradeep Mahajan, Regenerative Medicine researcher, StemRx, explained in an article.

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Down Syndrome is not commonly inherited and parents of an affected individual may be genetically normal. Occurrence may be described as sporadic-chance events.

There are three types of DS -- Trisomy 21 (nondisjunction), Translocation and Mosaicism. Trisomy 21, which accounts for approx 95 percent of DS, is caused by a failure of the 21st chromosome to separate during egg or sperm development.

Mosaicism is the least common variant of DS and shows a mixture of two types of cells, some comprising the usual 46 chromosomes and some having 47. Those cells having 47 chromosomes contain an extra chromosome 21. In translocation variant, an additional copy of chromosome 21 may attach to another chromosome, usually chromosome 14.

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"Diagnosis of Down Syndrome is possible during pregnancy, however the condition cannot be prevented. Conventional treatment involves early childhood intervention comprising of behavioural and speech therapy along with pharmacological management (when indicated)," Dr Mahajan stated.

Antioxidants, inhibition of gamma secretase enzyme, adrenergic agonists and memantine may be used. Individuals with DS are at greater risk of developing several systemic illnesses. Treatment goals are to improve life expectancy of affected individuals, though conventional therapies do little in improving quality of life.

Regenerative medicine and stem cell therapy has been shown to reduce the intensity of symptoms of Down Syndrome when carried out at an early stage. Additionally, immunological deficiencies are also corrected.

Studies have shown reduced levels of vascular endothelial growth factor (VEGF) and nitric oxide in foetuses with DS, thereby suggesting a role for these molecules in the pathogenesis.

Platelet rich plasma (PRP), which is a rich source of various growth factors, including VEGF may aid in modulating systemic responses arising due to VEGF deficiency.

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