Down syndrome is one of the most common causes of intellectual disability, across the globe. The worldwide incidence of Down Syndrome is pegged to be somewhere around one in every 700 liveborns. Extrapolating the figure to an exploding Indian population of 1.2 billion (and still counting), the burden of children with Down Syndrome in our country
, is mammoth! While some of us may know about this condition, it is very likely, that all that we know is not right. On the upcoming occasion of World Down Syndrome Day, celebrated globally on 21st of March every year (21.03.2018; 21st chromosome, 3 copies), I take the onus upon myself to dispel the fog around this condition, and create some clarity and awareness about this ‘not-so-rare’ disease.
Why does Down syndrome happen?
Our human bodies have the ‘blueprint information’ for normal functioning, stored in each cell in the form of super coiled-up structures, known as chromosomes. We all have 23 pairs of chromosomes residing in each cell. These chromosomes are numbered sequentially by the scientists in the order of their size when they are stained and tested, the largest chromosome numbered as 1.
If my handset number is hypothetically 66 55 77 88, and if someone dials 666666 55 77 88; the person will fail to connect. Similarly, if a person’s body harbours three copies of chromosome 21, instead of two, some error in the signalling is expected. This is to put it simplistically, as to what is the mechanism at the cellular level in individuals with Down Syndrome. An extra copy of chromosome 21 means an extra dosage of the genes (functional units of the hereditary material) present on it.
This error is most commonly attributed to normal biological processes gone awry in mothers with an advanced age, though there are other causes too. It is wrong to believe that only older mothers can give birth to babies with Down Syndrome. In fact, a majority of the children with Down Syndrome are born to women lesser than 35 years of age; reflecting a higher birth rate in women of this age group.
How does Down Syndrome manifest?
Classically, individuals with Down Syndrome have been described as having cognitive delays, learning problems, structural cardiac disorders, endocrinological concerns, medical concerns with the eyes and the hearing, complaints with the digestive system, joint and spine laxity, and growth issues. They are also prone to early onset memory losses (sometimes as early as 40 years of age), cancers, and immunological diseases and sleep disorders.
What are the myths surrounding Down syndrome?
It is of paramount importance to note, that not all the individuals with Down Syndrome will have all of the above the features; definitely not in the same severity. Just like all of India is not about slums and Taj Mahal; all of Down syndrome isn’t just about being intellectually challenged and ‘different looking’!
While these individuals do have certain similar physical characteristics, it is untrue that they all look the same.In fact, if one looks closely, a person with Down syndrome resembles his own family members more than another person with Down syndrome from another family. I once complimented an unknowing and chuckling infant with Down Syndrome, “Ah! You have got your mother’s smile!”, only to witness a broader, prettier and more confident smile by the mother herself!
Most people stereotype individuals with Down syndrome. To clarify, not all of them have a severe intellectual disability. Though these individuals have cognitive delays (ranging from mild to severe), the IQ alone is not truly and totally reflective of their individual capabilities. If given the right opportunity, early stimulation and comprehensive medical care, along with a favourable environment at home and school; these individuals can lay impressive goals as to how to define ‘success’.
These kids are overall more social and interactive than other children having cognitive impairments or learning disabilities (due to other causes, like, say autism). However, it is wrong to believe that all individuals with Down syndrome are always happy-go-lucky. They too have their range of human emotions and feelings, their good days and bad ones; their own distinct personality. In the same nerve, it is wrong to believe that these individuals are always sick. With improving medical care, these individuals can manage to live a healthy life; albeit with more frequent health visits and some intercurrent illnesses.
Most children with Down syndrome benefit from education and training that is integrated with mainstream learning, ‘along with other kids’, rather than that from institutionalised and special schools.
Are there any success stories of individuals who have Down syndrome?
Right from perusing a Bachelors in Psychology, to playing seven musical instruments and being a guest to none other than Oprah Winfrey, to owning a high-end restaurant, to being a sports champ; there is little that some of these ‘special’ individuals haven’t achieved.
It would be unjust to expect every child with Down syndrome to do all or any of the above, but these examples are to highlight that the human spirit and human capabilities cannot always be ‘prognosticated’ based on just an extra copy of a chromosome.
Why did I choose to write on this topic?
Ultimately, it is the parents’ prerogative to take a decision regarding the continuing of a pregnancy diagnosed as having Down syndrome. As Clinical Geneticists, we offer the ‘complete picture’ to the family and empower the parents to take further decisions. While the write-up doesn’t intend to flare up the controversy (more relevant in the West, as of today) regarding the abortions of foetuses having Down syndrome, it intends to make the reader more familiar with the complete clinical spectrum and the good part of the story (most often ignored) along with the bad (we tend to know that faster and better, somehow).
I will end the write up with clarifying one last myth. Down syndrome is named after Dr John Langdon Down, who first described this medical condition and its cause back in 1862. A parent once asked me while I was still in med-school, “Is it that this condition is called Down syndrome, as an antonym to Up? Signifying that my child is little less privileged, little less of an achiever, in any way?” Nullifying the thought and balming a hurt esteem; I replied back with a firm NO. After sharing the truth of how the condition gets its name, it was suggested, that her child may be Down; but he will never be OUT!
Jones KL. Down syndrome. In: Smith’s recognizable patterns of human malformation, 6th ed, Elsevier Saunders, Philadelphia 2006, p.7.
Roizen NJ, Patterson D. Down syndrome. Lancet 2003;361:1281
Appeared first online at https://www.tanyamunshi.com/lifestyle/looking-down-to-myths-and-opinions-world-down-syndrome-day/