Infantile spasms also called ‘Salaam Seizures’ usually occur in the first year after birth. The other important cause of infantile spasms identified in this study were underlying genetic defect which put a child at risk to develop these types of seizures later in infancy. In this study for the first time a detailed genetic evaluation using Next Generation Sequencing (NGS) based Whole Exome Sequencing was performed in patients with a suspected genetic cause for Infantile Spasms. Following this exhaustive genetic evaluation, a genetic cause could be identified in a significant number of patients with infantile spasms.
“The findings of this study highlight that neonatal hypoglycemia (low blood sugar at birth) is the most important underlying cause of infantile spasms. 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. The brain damage later causes infantile spasms, a severe form of epilepsy. 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,” said Dr. Vivek Jain, Pediatric Neurologist at Santokba Durlabhji Memorial Hospital, Jaipur and one of the authors of this research work.
This is the first study that used NGS technology to dwell deep into the causes of infantile spasms in the Indian setting. This study shows that families and doctors need to be more vigilant about preventing low blood sugar at birth in newborn babies to prevent its significant neurological impact later in a child’s life, said the release.
“A delay in identification and treatment of infantile spasms was associated with worse outcome with poor response to medications and also long term neurodevelopmental issues. As an important measure, it is vital for pediatricians, family practitioners, and the wider public to be educated about early identification of the causes of IS in order to plan appropriate preventions and treatments,” said Dr. Vedam Ramprasad, CEO, MedGenome.