Some screening tests for newborns on time can help address a number of congenital disorders, doctors said at a conference on Friday.
Some of these congenital problems have the potential to stunt the intellectual abilities of children at a later stage, they said.
One of the most common among these screening tests is one that helps detect abnormalities in the secretion of hormones from the thyroid gland. If this congenital disorder is detected late, it can cause significant damage to the growth of the child’s intellectual abilities, said paediatrician Apurba Ghosh.
Early detection has produced good results because treatment is now available.
Doctors also spoke about the deficiency of the enzyme G6PD — Glucose-6-phosphate dehydrogenase –— that can cause jaundice and impacts the brain.
“We do not have enough awareness about the diseases and the fact that they can be detected through some tests in newborn babies is unknown to most people,” said Ghosh, director of the Institute of Child Health (ICH).
Congenital hypothyroidism (CH), the deficiency of thyroid hormone at birth, is common and can be found in 1 in 1,800 to 3,000 children, he said.
“The absence or the deficiency of thyroid hormone cannot be commonly understood and by the time it will be understood, when symptoms start to manifest, it will be too late,” Ghosh said.
A screening test can help with early identification.
A month’s delay in screening can lead to a “permanent damage of 6 to 10 IQ” in a child, said Ghosh.
Doctors said the screening of newborn babies should become routine. “Early detection and early onset of treatment can help the child lead a normal life with some restrictions,” said Kheya Ghosh Uttam, associate professor at ICH.
The deficiency of G6PD is generally found in male babies to whom it is transmitted from their mothers.
“This enzyme helps in the maintenance of RBC cell membranes. Their absence can lead to premature breakdown of the red blood cells (RBC) , which can impact the liver, kidney and cause damage to brain,” said Dipanjana Dutta, a genetic counsellor.
