Down syndrome is among the most typical chromosomal situation inflicting intellectual disability and it was named after British doctor Dr John Langdon Down who described this syndrome. Normally an individual has 46 chromosomes in every cell however an individual with down syndrome may have 47 chromosomes as they've an additional copy in twenty first chromosome, therefore the identify Trisomy 21.

In an interview with HT Lifestyle, Dr Vignesh Kumar S, MD (Paediatrics), DM (Neonatology) at Cloudnine Group of Hospitals in Chennai's T Nagar, answered some outstanding questions on Down syndrome:

• How typically does Down syndrome happen?

Prevalence is 1:800 stay births worldwide.

• What is the trigger for Down syndrome?

95% of instances of downs syndrome is attributable to an error in cell division. Other few instances are attributable to translocation and mosaicism. Each human cell comprises 46 chromosomes however in people with downs syndrome every or some cells comprises an additional copy of chromosome 21. This extra chromosome is liable for bodily and developmental options of Down syndrome.

Three classes of Down syndrome are:

1. Trisomy 21: Most widespread kind (95%).Each cell has 47 chromosomes. Occurs attributable to error in cell division. Risk will increase with superior maternal age.
2. Translocation: Constitutes 3-4 % of instances. Extra chromosomes attaches to a different chromosome, commonest being chromosome 14 or 21.
3. Mosaicism: constitutes 1-2%, uncommon variant. some cells have regular chromosomes (46) and few cells have 47 chromosomes. Patients have milder phenotype.

• What are options to determine Down syndrome?

Hall mark options of Down syndrome are

1. Flat facies
2. Upward slanted palpebral fissure
3. Small dysplastic ears
4. Increased flexibility of joints
5. Short neck
6. Short fifth digit
7. Single transverse palmar crease
8. Pelvic dysplasia
9. Less muscle tone.

• How to diagnose Down syndrome?

1. Post natal analysis: It’s primarily a scientific analysis, nevertheless Karyotyping stays gold normal that detects additional copy of chromosome 21. Results can be found in 2-3 days. Rapid analysis is feasible with quantitative fluorescent polymerase chain response (QF PCR) or Fluorescent in situ hybridization approach (FISH). Results can be found inside 2 days.
2. Antenatal screening and analysis: Antenatal screening may be achieved throughout first or second trimester. First trimester screening contains maternal age, nuchal translucency evaluation by ultrasound, beta-hCG ranges, PAPP-A ranges between 11 and 13 weeks. Second trimester screening contains quadruple check (Beta-Hcg, Alphafetoprotein, Unconjugated estriol, Inhibin A. If the danger of down syndrome exceeds reduce off of 1:250,we are able to proceed with chorionic villous sampling at 11-12 weeks or amniocentesis at 16-18 weeks.

• What kind of issues would Down syndrome youngsters usually have?

Variable diploma of developmental delay is widespread function in all sufferers with Down syndrome. Majority may have an clever Quotient (IQ) in delicate (50-70) to average vary (35-50). Children with Down syndrome may have issue in feeding, bathroom coaching & sleep sample in any respect ages in comparison with regular youngsters. They have poor language &communication abilities. Down syndrome sufferers have a pleasing behaviour, caring, affectionate and fairly social. Many sufferers with Down syndrome have autistic options. Majority of sufferers with Down syndrome have options of Alzheimer illness by 40 years of age.

1. Most widespread drawback is coronary heart defects which constitutes 40-50%.all youngsters with downs syndrome must be checked by paediatric heart specialist for echocardiogram. some defects are minor and a few could require surgical procedure.
2. Around 10% of kids with downs syndrome have intestinal malformations requiring surgical procedure.
3. Children with Down syndrome can have listening to or visible impairment. So common listening to and imaginative and prescient examination is critical for kids with downs syndrome.
4. They are liable to thyroid issues and most cancers (Leukemia).They ought to have common test up with routine immunization.

• How extreme is the psychological retardation in youngsters with Down syndrome?

The diploma of psychological retardation ranges from delicate to average to extreme. Most of kids with downs syndrome falls inside delicate to average psychological retardation.

• Management of kids with Down syndrome?

A multidisciplinary crew involving Paediatrician, Developmental specialist, Psychologist, Neurologist, heart specialist, Ophthalmologist, ENT specialist, Speech therapist, Physical and occupational therapist is important in administration of kid with Down syndrome. Following measures helps youngsters with Down syndrome to stay a wholesome, comfortable and impartial life:

1. Early stimulation to enhance developmental abilities
2. Providing residence atmosphere
3. Providing parental care
4. Health training
5. Forming mum or dad assist teams for sharing their expertise
6. Vocational coaching of kids
7. Availability of specialized medical care when wanted

• What are {couples} probabilities of having a toddler with Down syndrome?

Any couple having probabilities of downs syndrome little one depends upon age of mom. If moms age is 35 years, odds of getting a toddler with Down syndrome is 1:350, if mom age is lower than 25 years, threat is 1:1400 and if mom age is 40 years the odd is 1:100.

• What is threat of a mum or dad of a kid with downs syndrome having one other little one with downs syndrome?

If the primary little one is having downs syndrome, probabilities of couple having one other little one with downs syndrome is 1:100. The possibilities for a kid with Down syndrome will increase with maternal age.

• Can folks with Down syndrome have youngsters?

Miscarriage fee and infertility fee is elevated in girls with Down syndrome however it's nonetheless attainable for them to have youngsters. The possible hood of getting a toddler with downs syndrome is roughly 50%.

• Life expectancy of an individual with Down syndrome?

Life expectancy is past 60 years over previous couple of many years with good high quality medical care and early identification & therapy of problems.

• Are there any organisations for individuals with downs syndrome?

National downs syndrome society (NDSS) is the main human rights group for all people with downs syndrome. Down syndrome federation of India (DSFI) is a mum or dad assist group began by Dr Surekha Ramachandran to assist folks with downs syndrome and their households to steer a extra regular life.

• Why is it essential to get entangled in a assist group?

Support group permits alternative to get sources and questions answered by folks which might be in related conditions. There is nothing higher than being surrounded by individuals who perceive what you're going by way of.