World Down Syndrome Day: Know the causes and diagnosis of this genetic disorder
Down syndrome is a genetic disorder, a defect in the body caused by an arising out of an extra chromosome. Normal babies have 46 chromosomes in the body whereas babies with down syndrome have 47 chromosomes and the chromosome number 21 or trisomy is the extra one. This disorder results in mental retardation, growth delays, and many other physical illnesses. It is a common genetic problem in children and with an early diagnosis and treatment of the condition, the quality of living of kids can be improved to a great degree. According to the United Nations, World Down Syndrome Day, which is a global awareness day is observed every year on March 21 as it signifies the uniqueness of the 21st chromosome, which causes the disorder. Dr Ashu Sawhney, senior consultant and coordinator, Neonatal Intensive Care Unit, Jaypee Hospital, Noida and paediatric neonatologist Dr Arvind Garg list the most common causes, symptoms, and diagnosis of the disorder. Symptoms Babies with Down Syndrome have specific traits and development issues, says Dr Sawhney. There are a few abnormalities — the most common one being abnormal facial features, popularly known as dysmorphic features. Down syndrome patients usually have upslanted eyes, flat nose, unusually formed ears, protruding tongue, short height, neck, and hands. They also have a single crease across the hand where normal people have two creases. Their muscle tone is weak which results in sitting difficulties and IQ is borderline, between 50-70, whereas, normal babies have 75-80. But they are very friendly children, and usually good with music. Later, as these babies grow up, they may develop other problems like joint and thyroid problems. About 40-45 percent Down Syndrome patients have congenital heart disease. Furthermore, their intestines may not be properly formed and also face eyesight problems and hearing loss. Causes Parents who have a greater risk of having babies with Down Syndrome include: *Children born to mothers whose age is 35 or above. With increasing age, the eggs grow older and the risk of abnormal chromosome division becomes greater. *If one child is born with this condition, there’s a high risk of the second being born with the same disorder. Diagnosis and treatment Performing tests and ultrasound screening during the early stages of pregnancy are ways to diagnose the disorder, says Dr Garg. A mother can opt out of pregnancy if she wants to. Another process is through Amniocentesis, a process in which amniotic fluid from the mother’s womb is sampled to screen for any abnormality in the developing fetus. If not diagnosed before birth, then one can identify the symptoms on the facial appearance of the newborn or a chromosomal analysis of the baby can be carried out. Though it cannot be treated fully, an early diagnosis can create a huge difference in the life of children. Furthermore, one needs to rely on a team of specialists who will monitor all the health issues of a Down Syndrome patient and will help the child in his/her development.
