FACTS ABOUT DOWN'S SYNDROME
UNIQUE TIMES|January - February 2020
Down syndrome (trisomy of chromosome 21) is the most common chromosome abnormality in humans occurring in about one per 1000 babies born each year. It is typically associated with physical growth delay, characteristic facial and physical features, mild to moderate intellectual disability and poor immune function.
Dr Arun Oommen

A 38 year old man, Bhandari, and his 34 year old wife, Shelly, came to the NS OP with their 3 month old son whom they got after over 2 years of courtship. Obviously, their marriage was a late marriage. They were really apprehensive and filled with doubt about their son a rather floppy baby with small nose, almond eyes with epicanthal folds and small mouth with protruding tongue. During pregnancy, various tests and ultrasound scanning had revealed few abnormalities, but the couple were reluctant to terminate the baby as they were already worried about the late conceiving plus the trauma of terminating the pregnancy. They decided to continue the pregnancy. The child was diagnosed with Down's syndrome leaving the hapless parents with a bunch of questions and apprehension about his future. How did it happen to us? Is it due to any environmental factors or any genetic defect in any of the parents? What will be the future of this child? Will the subsequent sibling be the same?

Down syndrome (trisomy of chromosome 21) is the most common chromosome abnormality in humans occurring in about one per 1000 babies born each year. It is typically associated with physical growth delay, characteristic facial and physical features, mild to moderate intellectual disability and poor immune function. It increases the risk of a number of other health problems including congenital heart disease, leukemia, thyroid disorders, and mental illness.

Risk factors for Down's syndrome include:

Advancing maternal age is the main risk. A woman's chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. By age 35, a woman's risk of conceiving a child with Down syndrome is about 1 in 350. By age 40, the risk is nearly 1 in 100, and by age 45, the risk is around 1 in 30.

Having had one child with Down syndrome the risk for next child with Down's syndrome is about 1 in 100.

Mothers who have Down syndrome themselves are 50% more likely to give birth to a child with this condition.

Being carriers of the genetic translocation for Down syndrome, parents can pass down a chromosomal abnormality called balanced translocation, which contributes to Translocation Down syndrome. In this instance, the parent does not have signs of Down syndrome, but has genetic material "balanced" between chromosome 21 and another chromosome, posing an increased risk for the child if that material attaches to the other chromosome when the cell divides.

Folate metabolism is abnormal in mothers of children with Down syndrome and that this may be explained, in part, by a mutation in the MTHFR gene.

Physical features include a short stature, small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the palm, a protruding tongue due to a small mouth and large tongue, a flat and wide face, a short neck, excessive joint flexibility, extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers.

Continue reading your story on the app

Continue reading your story in the magazine

MORE STORIES FROM UNIQUE TIMESView All

THE BRAND NEW YOU

The dynamic Nilufer Sheriff talks about the popular Hair Fair cosmetology clinics that she runs in Thrissur, Kochi and Kozhikode. She also recounts the story of her life

10+ mins read
UNIQUE TIMES
January - February 2021

WHAT ARE YOU SLAVE TO?

Dolly Neena is founder of THE IGNIST, a training company born out of a noble cause and spirit. She holds a decade long experience being a passionate mentor and entrepreneur.

5 mins read
UNIQUE TIMES
January - February 2021

THE DISRUPTIVE YEAR THAT WAS - 2020

The year 2020 marked one of the most disruptive times in the history of man-kind. It truly transcended boundaries and geographies and brought down on the world, a pandemic which hurt at every level in every continent.

6 mins read
UNIQUE TIMES
January - February 2021

THE ART OF TRADING

Stock market education in India is still at its nascent stage.

4 mins read
UNIQUE TIMES
January - February 2021

TACKLING BENIGN PAROXYSMAL POSITIONAL VERTIGO

Dr Arun Oommen MBBS, MS (Gen Surg), Mch( Neurosurgery), MRCSEd, MBA Consultant Neurosurgeon, VPS Lakeshore Hospital Kochi, India

5 mins read
UNIQUE TIMES
January - February 2021

Porsche 911

Vivek Venugopal is one of India’s top automotive writers with over a decade’s experience in road-testing and reviewing cars. He is currently the Editor of Quarter Mile magazine and a columnist in several leading magazines and newspapers. He is also a highly sought after consulting engineer and market analyst for many automobile manufacturers.

3 mins read
UNIQUE TIMES
January - February 2021

HOUSEWIFE: THE WORD THAT DESERVES BETTER DEFINITION

Let’s move to an imaginary class room situated in the rural region of the South Indian state of Karnataka. A teacher enters the classroom with a bunch of papers.

4 mins read
UNIQUE TIMES
January - February 2021

A HOLIDAY DESTINATION IN EUROPE: NORTH MACEDONIA

Macedonia is a very familiar name in Europe. It has a connection with the Roman history the continent shares.

4 mins read
UNIQUE TIMES
January - February 2021

2020 – FEW INTERESTING JUDGMENTS FROM THE HON'BLE SUPREME COURT

Adv Sherry Samuel Oommen This article is authored by Adv Sherry Samuel Oommen. Adv Oommen, who specializes in constitution, tax and corporate laws has also cleared the final exams of the Institute of Chartered Accountants of India, the Institute of Cost Accountants of India and the Institute of Company Secretaries of India. He has also completed his Masters Degree in Commerce, apart from obtaining a Post Graduate Diploma in Business and Corporate Laws from Symbiosis Pune. The views expressly are personal and should not be construed as a legal opinion.sherryoommen@nashcp.com.

4 mins read
UNIQUE TIMES
January - February 2021

Converting Large NBFCs To Banks: Is It Warranted?

An internal working group of the RBI recently suggested that large non-banking financial companies (NBFCs) should convert themselves into Banks.

5 mins read
UNIQUE TIMES
January - February 2021