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World Down Syndrome Day 2022: Down syndrome, a genetic situation, was first described by British doctor John Langdon Haydon Down within the yr 1862, however it was solely in 1959, the French doctor Jérôme Lejeune recognized Down syndrome as a chromosomal situation. In Down syndrome, an individual is born with an additional chromosome which may trigger bodily and psychological challenges within the toddler. A baby with down syndrome is normally shorter than the remainder, with flattened face, slender neck, protruding tongue, muscle tone points and so forth. (Additionally learn: Sofía Jirau turns into first mannequin with Down Syndrome to pose for Victoria’s Secret)
World Down Syndrome Day is noticed yearly on March 21 to lift public consciousness of the genetic situation. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 reside births worldwide. Every year, roughly 3,000 to five,000 youngsters are born with this chromosome dysfunction, in keeping with United Nations.
What’s Down syndrome
“Down syndrome is a genetic situation produced by an extra complete or partial copy of chromosome 21 because of defective cell division and is characterised by developmental delays and bodily traits brought on by extra genetic materials, Dr. Yogesh Kumar Gupta, Head of Pediatric Intensive Care Unit, Fortis Hospitals, Bannerghatta Highway, Bengaluru instructed HT Digital.
Individuals with Down syndrome endure from developmental delays and cognitive impairment and is a number one reason behind studying impairments in youngsters. It could additionally create different well being points, akin to cardiac and gastrointestinal issues.
Signs of Down syndrome
“Particular person Down syndrome signs can vary from delicate to extreme mental and developmental impairments, with some individuals arriving in regular well being and others presenting with catastrophic well being issues akin to coronary heart defects,” says Dr Gupta.
“Though Down syndrome infants are usually of extraordinary dimension, they develop slowly and stay shorter than different youngsters their age. The vast majority of Down syndrome youngsters have delicate to average cognitive impairment, with each brief and long-term reminiscence compromised in addition to delayed language,” he added.
Analysis
Down syndrome is usually found in the course of the course of a being pregnant. If not detected, the toddler’s look can normally be used to diagnose the situation.
“In such circumstances, a blood take a look at analyzing the kid’s chromosomes ought to be used to substantiate the analysis (karyotype). That is vital for each important and minor points. Kids, for instance, could require corrective surgical procedure to deal with a cardiac abnormality, require eyeglasses or listening to aids not solely to enhance their imaginative and prescient or listening to but in addition their studying and comprehension skills,” says Dr Gupta.
Threat components
Some mother and father usually tend to have a toddler with Down syndrome. Among the threat components embody:
* As a result of older eggs have the next threat of incorrect chromosomal division, a lady’s odds of getting a child with Down syndrome develop publish 35 years of age. Nonetheless, since youthful girls have significantly extra infants, most Down syndrome youngsters are born to girls underneath the age of 35.
* Dad and mom with a Down syndrome little one or a translocation usually tend to have one other little one with the identical situation. A genetic counsellor might help mother and father determine how seemingly it’s that they are going to have one other little one with Down syndrome.
* Basically, Down syndrome just isn’t hereditary. It is triggered by an abnormality in cell division in the course of the foetus’s early improvement. Nonetheless, Translocation Down syndrome could be handed down by generations, with solely round 3 to 4% of Down syndrome youngsters buying it from one in all their mother and father.
Common life expectancy
“Life expectancy for individuals with Down syndrome has grown significantly, individuals with Down syndrome can now anticipate to reside for greater than 60 years, relying on their well being issues,” says the skilled.
Therapy
“Though there isn’t a particular therapy for Down syndrome, there are a selection of therapies that may assist with the situation’s issues. Consequently, screening youngsters for these issues at frequent intervals throughout their childhood is essential,” concludes Dr Gupta.
(With inputs from Dr Yogesh Kumar Gupta, Head of Pediatric Intensive Care Unit, Fortis Hospitals, Bannerghatta Highway, Bengaluru)
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