DOI: 10.1097/DBP.0000000000000046
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PMID: 24695123
Issn Print: 0196-206X
Publication Date: 2014/04/01
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Excerpt
Down syndrome (Trisomy-21) is the most common chromosomal disorder in the world with an approximate incidence of 1 in 700 live births. There have been many advances in research related to this disorder, and life expectancy has increased dramatically from 25 years in 1983 to 60 years in 2012 in the developed Western economies.1 However, Down syndrome remains largely ignored in the developing economies of Asia. In Pakistan, Down syndrome has been gaining attention because of the relatively recent formation of the Pakistan Down Syndrome Association in 2009 and its subsequent recognition by Down Syndrome International.2 Although a fundamental starting point, healthcare for children with Down syndrome in Pakistan remains dismal and requires drastic action.
First and foremost, although the diagnosis of Down syndrome can be made clinically, a karyotyping or chromosomal analysis is required for confirmation. Limited public health budgets, expensive private health care, and lack of diagnostic facilities make this nearly impossible for most families to pursue such tests. Second, therapeutic interventions such as physical and occupational therapy for those with disabilities are lacking in public health centers and unaffordable in private settings for the 54% of the population who live below the poverty line. Third, having a child with Down syndrome brings with it tremendous psychosocial difficulties because of the associated stigma in Pakistani societies.3 This causes affected children to live secluded lives and further delineates them from the mainstream, just as the PDSA website summarizes by stating, “People have hidden their children into homes.”2 Families with children with Down syndrome have to rely on personal resources and charitable foundations for health care because assistance from public health care is limited and in most places nonexistent for children with disabilities.3
The situation is further exacerbated by the dearth of research studies in Pakistan on Down syndrome. A basic literature search using the keyword “Down syndrome Pakistan” retrieves only a few results. Basic statistics related to prevalence, incidence ratios, and demographics of the Down syndrome population have still not been reported in the sixth most populous country in the world. Reasons for this lack of interest can be hardly explained and perhaps unfortunately reflect a lack of interest in Down syndrome by local researchers, which does not bode well for the affected children.
Pakistan Down Syndrome Association has recently begun to spread its wings in efforts to improve the lives of children living with Down syndrome; however, it too has mentioned lack of funds as hampering its ability to function and extend efforts to more children across the country. Although public awareness will go a long way in promoting the cause of Down syndrome, it is absolutely necessary for concerned authorities, universities, and medical centers to instigate researchers to develop an interest in Down syndrome because improvements in health care are only possible in light of relative research. Failure to document such a large subset of the intellectually disabled population in the country not only represents missed opportunities in research but also missed opportunities in providing better health care and a better quality of life to children with Down syndrome.
