Etiologic Spectrum, Treatment, and Outcome of 101 Children with West Syndrome

Background/Purpose: West syndrome (syn: BNS epilepsy) is an early childhood epilepsy syndrome defined by infantile spasms, a hypsarrhythmia in the EEG and developmental delay. The underlying cause often remains unexplained and affected children show an increased risk of developmental disorders.

Methods: Retrospective descriptive analysis of clinical data of children with West Syndrome treated between 2005 and 2019 at the University Hospital Heidelberg.

Results: A total of 101 children with sufficient data were included. The median age at onset was 5.5 months. At the last evaluation with a median age of 42 months, 50.5% of patients were seizure-free. Developmental abnormalities were present in 92%. A probable cause was found in 60.4% of children containing genetic alterations in 17 different genes (28.7%), structural CNS changes (28.7%) and metabolic diseases (3%). The etiological detection rate increased from 52.7% before 2014 to 69.6% afterward, mainly due to a tripling of detected genetic alterations. Initial therapy with vigabatrin/corticosteroids was used in twice as many children after 2013 and with less delay (median: 1 vs. 0.62 months, p: 0.04). The children became seizure-free more quickly (median: 2.75 vs. 1.62 months) and the number of antiepileptic drugs used in the first 2 years of life was reduced from 4.15 to 3.38. There was no significant difference in developmental outcome.

Conclusion: This study shows the increasing relevance of genetic alterations in West syndrome. It confirms the positive effect of early therapy with steroids/vigabatrin on epilepsy. However, the missing effect on long-term development indicates a more important influence of etiological factors.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
28 October 2021