Clinical utility of rapid genome sequencing in neonates with seizures

A new study aims to determine the underlying etiology of seizures, to target treatment, to better control seizures and, eventually, to reduce morbidity in children. The results of the study will be presented at the Pediatric Academic Societies (PAS) 2019 meeting, which will take place from April 24 to May 1 in Baltimore.

"As a neonatologist working with the Genomics Institute team, I have found out by myself that rapid sequencing of the complete genome can be effective in identifying the etiology of unexplained seizures in newborns. born and subsequently optimize their care, "said Jeanne Carroll, MD, one of the authors of the study. "The first SSGs can provide answers to families in distress, help doctors make a prognosis and, most importantly, can help guide therapy with the potential for impact on outcomes." A Retrospective Analysis of 19 patients admitted to the neonatal intensive care unit, with: The unclear etiology of epileptic seizures received resulted in a molecular diagnosis for six infants.Of these six patients, four received a change in medical management at following the genetic diagnosis. "

This study retrospectively identified a cohort of patients admitted during the first 30 days of life with symptoms of epileptic seizures also showing rapid sequencing of the entire genome during admission. These cases were reviewed to badess the etiology of seizure, rMSS results, and management changes based on STM results.

Nineteen patients were identified with a mean age at admission of four days and an average hospitalization day at which sequencing was sent from 3.3. RWGS performed six diagnoses (31.6%). A stroke was subsequently observed on neuroimaging in four patients and three on changes in ischemic hypoxic encephalopathy (IHD) on MRI. Four of the six diagnoses resulted in a change of direction, three with targeted seizure medications and one with a referral to a specialist in neurometabolism and the addition of dietary supplements. Mutations of KCNQ2 were found in two patients, both of whom had significant side effects of antiepileptic drugs. In each case, the treatment regimen was optimized based on genetic findings leading to seizure control and reduction of side effects of non-targeted therapies. In this cohort, pyridoxine-dependent epilepsy, two syndromic causes of seizures, and a metabolic disorder were also identified.

The study concluded that the RGS could identify etiology and direct therapy in the newborn with unexplained convulsions.

More information:
Dr. Carroll will present the results of "The clinical utility of rGMS in the evaluation of neonatal seizures" on Saturday, April 27 at 9:15 am Eastern Daylight Time.