Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Introduction

 

The intricate workings of the brain remain a source of ongoing exploration for researchers. New discoveries continue to shed light on how neurological conditions can sometimes co-occur, presenting unique challenges and opportunities for diagnosis and intervention. A recent study published in May 2024 by the Jornal de Pediatria delves into this very concept, investigating the potential link between infantile epileptic spasms syndrome (IESS) and autism spectrum disorder (ASD) in children.

Understanding Infantile Epileptic Spasms Syndrome (IESS)

 

IESS is a rare and severe form of epilepsy that typically manifests in the first year of life, often between 3 and 12 months of age. It is characterized by clusters of brief, repetitive muscle jerks that can affect the entire body or just one side. These episodes, known as epileptic spasms, can be quite alarming for parents and caregivers.

The exact cause of IESS remains unknown, but it can be associated with various factors, including:

  • Brain malformations present at birth
  • Genetic disorders
  • Infections of the central nervous system
  • Metabolic imbalances

Unfortunately, IESS is often accompanied by developmental delays or regression in affected children. This highlights the crucial need for early diagnosis and intervention to optimize a child’s long-term outcomes.

Exploring the Connection Between IESS and ASD

 

The study published in Jornal de Pediatria aimed to investigate the prevalence of ASD in children diagnosed with IESS and explore any potential correlations between the two conditions. Researchers at a single center in Brazil conducted a retrospective analysis, examining data from 53 children with confirmed IESS. Each child then underwent a comprehensive assessment for ASD.

 

Key Findings and What They Reveal

 

The study’s findings shed light on a potentially significant connection between IESS and ASD:

  • Increased Risk of ASD: The research revealed a concerning statistic. A substantial portion of the children with IESS, roughly 23% (12 out of 53), were also diagnosed with ASD. This indicates a considerably higher risk of developing ASD in this population compared to the general population.
  • Later Age of Seizure Onset as a Potential Risk Factor: An intriguing finding emerged from the study. The researchers observed that children diagnosed with both ASD and IESS experienced a later age of seizure onset compared to those with IESS alone. The average age of first seizure in the ASD group was 10.58 months, whereas it was significantly lower at 5.43 months in the non-ASD group. This suggests that a later onset of seizures in children with IESS might be a predisposing factor for the development of ASD.

Unveiling the Bigger Picture

 

These findings offer valuable insights into the potential link between IESS and ASD. The study suggests that children with IESS, particularly those experiencing a later onset of seizures, may be at a heightened risk of developing ASD. This underscores the importance of comprehensive evaluations for ASD in children diagnosed with IESS.

It is crucial to acknowledge that this study was conducted at a single center, which can limit the generalizability of the results. Further research with larger and more diverse populations is necessary to solidify these findings and explore the underlying mechanisms behind this potential association.

 

The Road Ahead: Early Intervention and Hope for the Future

 

Early identification and intervention are paramount for both IESS and ASD. By promptly diagnosing and addressing both conditions, healthcare professionals can significantly improve a child’s long-term developmental trajectory and quality of life.

The ongoing exploration of connections between neurological conditions like IESS and ASD paves the way for more comprehensive diagnostic approaches and the development of targeted interventions. This ultimately offers a beacon of hope for children and families grappling with these complex conditions.

 

Source:

https://www.sciencedirect.com/science/article/pii/S0021755724000688

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