Sitting on a bench in a park at twilight with happy children playing and dancing all around. Their incessant energy and wish to explore things in vicinity, at times driving parents crazy. Every child has unique physical (morphological) features coupled with parents endeavour to make their child look the best. On the other side, there is another set of parents, worried as no other child was willing to play with theirs as they looked a little different. Few distinct physical features set them apart from other children.
By now many parents must have picked up that we will be talking about Down syndrome in this post. Also known as Trisomy 21, Down syndrome is a genetic disorder that happens due to a mischievous chromosome 21 that makes an extra copy. As a result of this, children with Down syndrome have distinct characteristic features. To enumerate a few: a moon like face, slanted eyes, flat nasal bridge, small chin, protruding tongue, small hands and fingers, single palmar crease, wider gap between big toe and second toe (saddle gap).
Down syndrome (DS) is a prevalent genetic disorder in intellectual disability (ID) in India (Patterson D,2005).
The frequency of DS was observed 1 per 1150 in a survey of 94,910 newborns in three metropolitan cities of India: Mumbai, Delhi, and Baroda.
Though there is no found reason that lead to this genetic mutation but conception at a late age have found to have good association with DS. A study results suggested that the chewing tobacco risk factor operates independently of the maternal age effect, whereas contraceptive pill-related risk may interact with or exacerbate age-related risk. Moreover, both risk factors, when present together, exhibited a strong age-dependent effect (Ghosh S,2011).
Congenital heart abnormalities, eyes problems, impotency are usually found concomitant with DS.
Associated problems like sensory processing disorders, learning disabilities, hearing, sleep disorder, ear/eye problems are not uncommon.
Low body tone makes them appear lethargic. They might have proprioceptive, tactile or other sensory issues. Speech is also found affected in most of the cases. Most of the babies have a low intellectual quotient but falls in trainable category.
It can be picked up during routine ultrasound during pregnancy. Sometime back, the honourable Supreme Court rejected the plea of a Mumbai woman to abort her 26-week-old foetus which, reports showed, suffered from ‘Down Syndrome’ and that the child might be born with physical and mental abnormalities.
Therefore timely intervention becomes the key.
There is no cure to DS, it has to be managed therapeutically. The intervention team members include Occupational Therapist, Special Educator and Speech Therapist. McGrathRJ (2011) conducted a study that inferred that Children with Down syndrome disproportionately face greater disease burden, more negatively pronounced family impacts, and greater unmet needs than other Children with Special Health Care Needs. This makes the journey even harder.
But this is an era of science. Lots of intervention opportunities are available these days.
This was a short introduction to DS, if our readers want to know more about DS, they are requested to pin a comment @prowellnessindia.com.