Down syndrome is a genetic condition caused by an extra chromosome. It occurs in one in 700-900 babies and includes birth defects like learning problems and unusual appearance. Medicircle is conducting an exclusive series on Down syndrome awareness featuring eminent neurologists, paediatricians, paediatric neurologists, physiotherapists, and speech therapists to help raise public awareness of this common disorder and advocate for acceptance and inclusion of people with Down Syndrome.

Dr. Nirmal Surya is a distinguished Neurologist in Mumbai with over 30 years of experience in his areas of specialization, which includes general neurology, epilepsy, neurorehabilitation, and stroke. He is a visiting neurologist at prominent hospitals in Mumbai. Dr. Nirmal is the chairman of Surya Neuro Center. He is also the Founder Trustee and Chairman of the Epilepsy Foundation India and Founder President of Indian Federation of Neuro Rehabilitation. He has been the official neurologist for the Maharashtra police for over 20 years. He is a member of prestigious medical associations, including the American Academy of Neurology (AAN), Movement Disorder Society, Neurological Society of India, Indian Academy of Neurology, Indian Headache Association, Indian Society of Critical Care Medicine, Association of Medical Consultants, and Indian Medical Association, to name a few.

How People Born with Down Syndrome are Different than Others

Dr. Nirmal explains, “The way we appear or look is due to our genetic makeup.  If a son or a daughter looks like his/her mother or father, that's because of the gene that is being carried and the genes which have been formulated. When this gene is distorted or deformed, they give rise to many neurological syndromes and one of them is Down Syndrome.” He lists down following ways in which people with Down Syndrome are different than others:

People with down syndrome are born with a low IQ. So, there can be mental retardation which may vary from an IQ level of 50 to less than 20. So, depending on the severity of the expression of the gene, there may be patients who have a 20-50 IQ level. The second thing is their height. Down syndrome, people are less than 5 feet in height if we look at the males and less than 4.10 in the females. These are the people who work in the circus. Down syndrome people with a little intelligence quotient of around 50 can run their life by getting jobs in circus etc.   There are other developmental issues like hearing disturbance, vision disturbance, speech disturbance which is associated with hearing disturbance etc. They also have endocrine problems like thyroid problems or teeth problems and there are many other associated problems like the risk of increased blood cancer, etc. 

So, when we look at them, they are different from others particularly due to their height. One good thing about Down syndrome patients is that they are not depressive or they are not isolated, they are jocular. So that's the reason why they get jobs as jokers, particularly the ones with IQs around 50. However, those who have an IQ level of 20 or 30 are a burden to the family,” says Dr. Nirmal.

Connection of Mother’s Age of Pregnancy and Down Syndrome

Dr. Nirmal emphasizes, “There is a connection between the age of a woman during pregnancy and the chances of babies born with down syndrome. If a woman gives birth to a child in her 20s, down syndrome probability in her child would be 1 in 1400. If a woman gives birth in her 30s then probability would be 1 in 959 babies. If a woman gives birth at 40 years of age, then there is a probability of 1 in 84 cases of people getting affected by DS. If a woman gives birth in 50s, the probability of the child getting affected with DS would be 1 in 44. Age of females has a link with it and those who plan late first pregnancies due to career, need to look into this aspect as probably there was a reason why the generations before us believed in early marriages. Prenatal screening has a significant role to play here and can help prevention of life-long misery. So, women having their first pregnancy after 30 should always go for it,” suggests Dr. Nirmal.

Are Paediatricians of children with Down Syndrome different than Paediatricians of Children without DS 

Dr. Nirmal points out, “They need special care, not special paediatrician. They require regular screening of different body parts like the ear, heart, bone, teeth, nose, etc. as they are likely of getting affected by ailments related to these. They require additional supervision. Normal school is ok up to some extent but special schools are necessary. Speech therapist, physiotherapist etc. are helpful. These people can also take help of a social worker, can go for rehab check-ups or cognitive training apart from seeing a paediatrician,” says Dr. Nirmal.

What Should Parents of People Suffering from Down Syndrome Do

Dr. Nirmal advises, “Parents should take care of children in the best possible way. Instead of consulting doctors randomly or going for all kinds of treatment, they should be under the guidance of one doctor who would help them in their journey of bringing up children with Down Syndrome. They should be prepared for the fact that the defect in genes is not reversible and down syndrome is a life-long condition but associated ailments like that of heart or ENT can be kept in control with regular treatment. They need to send their children to special schools. They need to understand that their children have limited capacity and hence formulate proper guidelines with help of counsellors without setting expectations of any kind from these children,” Dr. Nirmal says.

(Edited by Amrita Priya)