Language
English
Publication Date
2-2-2026
Journal
The Orphanet Journal of Rare Diseases
DOI
10.1186/s13023-026-04229-1
PMID
41622169
PMCID
PMC12955028
PubMedCentral® Posted Date
2-2-2026
PubMedCentral® Full Text Version
Post-print
Abstract
Introduction
Infantile Epileptic Spasms Syndrome (IESS) is a severe epilepsy in children between one month and two years of age. Urgent referral of possible IESS cases from pediatricians and family physicians who care for children to neurologists for diagnosis and treatment has been shown to significantly improve patient health outcomes. Yet, a comprehensive list of IESS clinical features is lacking. We conducted a systematic review of studies to report IESS clinical features.
Methods
Articles from the MEDLINE Complete and Embase databases were searched from the earliest years of databases availability (1979) to July 31, 2024. We followed the Preferred Reporting for Systematic Reviews and Meta-Analysis guidelines to conduct this systematic review with 140 articles, all of which were descriptive studies.
Results
We identified 25 clinical features among the 3,786 children with IESS who were included in 140 studies. No single clinical descriptor was reported in over half of the children. The six most commonly reported clinical features included flexor spasms (48.28%), mixed spasms (30.19%), extensor spasms (10.49%), symmetric spasms (8.49%), asymmetric/focal spasms (6.50%), and head nodding (2.48%).
Conclusions
There were a wide variety of IESS presentation descriptions. This review will help future researchers to develop an IESS screening tool that can assist pediatricians and family physicians who care for children in making urgent referrals.
Supplementary Information
The online version contains supplementary material available at 10.1186/s13023-026-04229-1.
Keywords
Humans, Spasms, Infantile, Infant, Child, Preschool, Infantile Epileptic Spasms Syndrome, Clinical features, Pediatricians, Systematic review
Published Open-Access
yes
Recommended Citation
Meng, Xiao; Takacs, Danielle S; Kelagere, Yashaswini; et al., "Clinical Features of Infantile Epileptic Spasms Syndrome: A Systematic Review" (2026). Faculty, Staff and Students Publications. 7711.
https://digitalcommons.library.tmc.edu/baylor_docs/7711