Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study

Area of Science:

• Pediatric Neurology
• Clinical Genetics
• Neurodevelopmental Disorders

Background:

• Infantile epileptic spasms syndrome (IESS) is a severe group of encephalopathies presenting in infancy.
• The identification of genetic causes for IESS has become increasingly important for diagnosis and management.
• Early diagnosis and intervention are critical for improving outcomes in infants with IESS.

Purpose of the Study:

• To describe the spectrum of genetic causes of IESS in infants under two years of age.
• To assess the frequency of different etiological categories in IESS cases.
• To correlate genetic findings with clinical presentation and treatment response.

Main Methods:

• A case series study involving 55 children under two years old diagnosed with IESS across six pediatric neurology centers in Peru.
• Retrospective analysis of medical records, including clinical data, electroencephalography (EEG) findings, and genetic testing results.
• Evaluation of neurodevelopmental status, epilepsy progression, and treatment response.

Main Results:

• The predominant etiologic category was genetic-structural (38.18%), with tuberous sclerosis being notable, followed by structural-congenital (30.90%) and genetic (27.27%).
• All patients exhibited mixed neurodevelopmental delay, predominantly severe (63.64%). Hypsarrhythmia was the most common EEG pattern (67.27%).
• Genetic analysis identified 24 variants in 21 genes and 2 chromosomal alterations in approximately one-third of the cases. Vigabatrin was the most common treatment.

Conclusions:

• Genetic etiology is frequent and diverse in IESS, with genetic-structural and structural-congenital categories being most common.
• A significant proportion of IESS cases have identifiable genetic variants, highlighting the importance of genetic testing.
• Prompt genetic identification in IESS is recommended to optimize treatment strategies and improve patient prognosis.