Low blood sugar at birth, genetics cause epilepsy in young Indian children: Study

A new study has found that infantile spasms in babies can be caused due to low blood sugar at birth and genetic defects. Infantile Spasms (IS) is a common type of epilepsy in babies and young children. It is sometimes called West syndrome and the spasms look like a sudden stiffening of muscles, and the baby's arms, legs, or head may bend forward or backwards. The seizures last only a second or two, occur in a series and are common just after waking up. According to the Epilepsy Foundation, seizures begin between three and eight months of age. Almost all infantile spasms start by 12 months of age and usually stop at four years old.

The study was conducted by Medgenome Labs along with doctors from Santokba Durlabhji Memorial Hospital; Jaipur School of Medicine; University of Glasgow, UK; and Pediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK. The results have been published in Science Direct.

The limited resource study was conducted on 113 patients after Dr Vivek Jain, a Pediatric neurologist and co-author of the study, saw that a lot of children coming to his clinic and has low blood sugar at birth where they develope IS as they grow older. He also realised that some children who have no apparent cause were also developing IS. No study in India has focused on children with IS who either had low blood sugar or had a genetic defect.

They found that one of the main causes of IS in babies is low blood sugar levels which occurs when a baby is unable to suckle at the mother's breast which leads to brain injury.

Jain said "Often babies at birth struggle to breastfeed and with inadequate advise and lactation support for the new mothers, this poor milk intake leads to low sugar and brain damage, in these babies (causing IS)"

"Hence there is an urgent need to develop guidelines for early recognition and optimal management of neonates at risk of developing hypoglycemia to prevent this severe epilepsy," he added.

Working with the Indian pediatric neurology association (AOCN), Jain has helped create guidelines for the early identification and treatment of infantile spasms. These guideline is going to be soon published in the national journal of paediatrics in India.

Jain also said that it is very important that families and new mothers are made aware of the impact of low blood sugar at birth and its negative neurological impact later in life.

"This way families will be alert to ensure that a newborn baby gets enough milk feed at birth if a mother is struggling to breastfeed (by giving top-up formula feed). This will ensure that the bay does not get low blood sugars, which leads to significant problems later on," he added.

Using MRIs and Next Generation Sequencing (NGS) technology, they also found that the other cause of IS was a defect in their genes. The study suggests conducting a Whole Exome Sequencing in patients who show no apparent cause of IS to help diagnose and prevent it from happening in future pregnancies.

NGS is a method used to sequence a person’s DNA. Developed about 15 years ago, it has revolutionized the way genetic testing is done. Using NGS, researchers are able to get better, more in-depth information about the genetic causes of diseases.

According to Dr Vedam Ramprasad, CEO, MedGenome “A delay in identification and treatment of infantile spasms was associated with the worse outcome with poor response to medications and also long term neurodevelopmental issues."

However, it is not important the everyone conducts a genetic test to test for IS during a pregnancy. But it is important that pediatric doctors and the general public are aware that a newborn baby is fed enough at "birth and first few days of life, while the mother is herself trying to establish proper lactation, for the baby," says Jain.

Jain along with his team of researchers are planning on conducting a more detailed study on causes of epilepsy in children up till the age of five years. While this study will also include looking at the genetics of the children involved, he believes that low blood sugar at birth will be a common cause of epilepsy.



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