Down Syndrome Day: Is the condition inherited? What are its symptoms?

The annual World Down Syndrome Day (WDSD) is held on March 21 to commemorate the individuality of the triplication (trisomy) of the twenty first chromosome. This uniqueness which causes the genetic dysfunction – Down Syndrome– is marked by improvement delays and cognitive impairment in variable diploma.

Though there’s lots of stigma related to Down Syndrome, it is the commonest genetic chromosomal illness in kids, and the most important reason behind studying disabilities. It is also linked to different medical considerations like cardiac and gastrointestinal points, mentioned Dr. Yogesh Kumar Gupta, Head of Pediatric Intensive Care Unit at Fortis Hospitals, Bengaluru.

“The excellent news although is that kids and other people with Down Syndrome can take pleasure in extra fulfilling lives if they’ve a greater understanding of the situation and obtain early intervention, for which correct analysis is important,” mentioned Dr Gupta. On World Down Syndrome Day, right here’s all you have to learn about this situation, and the methods to diagnose and deal with it, in addition to stay with it.

What’s the process for diagnosing it?

Down syndrome is incessantly identified throughout being pregnant. Nevertheless, after childbirth too, the looks of the toddler might be a sign. “A blood check evaluating the kid’s chromosomes needs to be performed to substantiate the analysis in such circumstances (karyotype). That is vital for each main and little difficulties as a result of kids with Down Syndrome typically want medical help. For instance, one may have corrective surgical procedure to rectify a coronary heart downside, whereas one other may have glasses or listening to aids to assist them see and listen to higher,” defined Dr Gupta.

Some dad and mom usually tend to have a child with Down syndrome than others; since older eggs have a bigger danger of defective chromosomal division, a lady’s probabilities of giving beginning to a baby with Down syndrome enhance after 35 years of age. Mother and father with a Down syndrome youngster or a translocation usually tend to have one other youngster with the identical situation. A genetic counsellor can help such dad and mom in figuring out the chance of getting one other youngster with Down syndrome.


Is Down Syndrome Inherited?
Down syndrome shouldn’t be a hereditary situation. An aberration in cell division in the course of the foetus’s early improvement causes it. Nevertheless, translocation Down’s Syndrome might be handed from dad or mum to youngster, identified Dr Asmita Mahajan, Marketing consultant Neonatologist & Pediatrician at SL Raheja Hospital, Mumbai.

“Solely about 3 to 4 p.c of kids with Down’s Syndrome have translocation and solely a few of them inherited it from one among their dad and mom,” added Dr Mahajan.

What Are The Symptoms Of Down Syndrome?

Although not all individuals with Down’s Syndrome have the identical options, among the most typical traits embody flattened face, small head, brief neck, protruding tongue, upward slanting eye lids (Palpebral Fissures), unusually formed or small ears, poor muscle tone, broad, brief palms with a single crease within the palm and so forth. Dr Mahajan mentioned that if dad and mom suppose that they belong to the danger class, and will have probabilities of conceiving a baby with Down Syndrome they need to seek the advice of a health care provider in the course of the being pregnant.

Another points confronted by individuals with this syndrome are immune issues like autoimmune issues, some types of most cancers, and infectious illnesses, like pneumonia. Sleep Apnea can also be a byproduct of the Down Syndrome as a result of comfortable tissue and skeletal adjustments brought on by this ailment result in the obstruction of individuals’s airways. Younger kids with Down’s Syndrome have an elevated danger of Leukemia. People with this situation could expertise dementia’s indicators and signs by 50-years of age. In addition they have elevated danger of creating Alzheimer’s Illness.

These with Down Syndrome even have dental issues, seizures and they’re extra vulnerable to ear infections, and listening to and imaginative and prescient issues.

Therapy Choices

Dr. Vikas Taneja, Head Of the Division of Pediatrics, HCMCT Manipal Hospital at Dwarka (Delhi) mentioned that therapy for Down Syndrome needs to be custom-made relying upon the type of manifestations the affected person has. As an example, in circumstances involving coronary heart defects, surgical procedure is usually required.

“If the affected person has hypothyroidism, then they’re usually monitored and are prescribed medicines accordingly. The identical goes if they’ve listening to or visible defects. A few of them even have much less toned muscle tissues, since they develop at a slower price in comparison with different children. So, their therapy choice require physiotherapy, occupational remedy, and common train to strengthen their muscle tissues,” mentioned Taneja.

Taneja additional added that kids with Down Syndrome are fairly calm and infrequently occupied with music and artwork, which is why music and artwork are incessantly utilized in remedy for such children.