Introduction

This study explores the etiology, accessibility to specialist services and factors affecting responsiveness to treatment for West Syndrome patients in a tertiary care setting in India. This is the first Indian study where detailed genetic testing was also performed for patients with no cause ascertained.

Methods

Retrospective analysis of all West Syndrome patients seen between March 2015 – March 2018 at Santokba Durlabhji hospital, in Jaipur. The collected information included aetiology (subdivided into acquired, genetic and unknown causes) of West Syndrome, time lag to accessing Pediatric Neurology Services and starting specific antispasm treatment.  In the Genetic & Unknown group, Whole Exome Sequencing and if indicated Array CGH were performed.

Results

Total 111 patients of West Syndrome were seen. Acquired causes were the most common (75/111; 67.5 %,) with neonatal hypoglycaemic brain injury being the commonest (37/111 patients) followed by Genetic/Unknown (36/111) patients.

The median time lag to initiating specific antispasm treatment was 30 days (0- 66 Months).This delay was the most important factor in determining the drug refractoriness (14% in < 7 days delay & 37% if > 7 days).

Conclusion

This study in variance from available Indian literature highlights the role of Neonatal hypoglycaemic brain injury along with genetic & unknown causes, as predominant etiologies for Indian West Syndrome Patients.

Delay in initiating antispasm treatment was an important cause of drug refractoriness.

Pediatricians in resource limited settings should be informed about long term implications of Neonatal Hypoglycaemia and educated on early appropriate treatment for infantile spasms.