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 backward. 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 at 12 months of age and usually stop at four years old.

Metagenome Labs conducted the study 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.

While speaking to him, Dr. Vivek Jain, a Pediatric neurologist and co-author of the study, said that the limited resource study was conducted on 113 patients after he saw that many children coming to his clinic had low blood sugar at birth and developed IS as they grow older. He also realized that some children who have no apparent cause were also developing IS. Since no study in India had focused on children with IS who either had low blood sugar or had a genetic defect, he decided to undertake a pilot study to support his hypothesis.

They found that one of the main causes of IS in babies is low blood sugar levels, which occurs when a baby cannot suckle at the mother’s breast, which leads to brain injury.

Jain said, “Often babies at the 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 pediatrics in India.

Jain told Firstpost that it is also essential that families and new mothers know 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 IS cause 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 can get better, more in-depth information about the genetic causes of diseases.

According to Dr. Vedam Ramprasad, CEO, MedGenome said, “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, everyone doesn’t have to conduct a genetic test to test for IS during a pregnancy. But it is important that pediatric doctors and the general public know 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.

Since this was a minimal study with few patients, Jain and his team of researchers are planning on conducting a more detailed study on causes of epilepsy in children up till the age of five. 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 other forms of epilepsy.

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