Thalamic volumetric analysis in Developmental and/or Epileptic Encephalopathy with Spike Wave Activation in Sleep

Gautam Kamila1, Prashant Jauhari1, Atin Kumar2

  • 1Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Seizure
|March 22, 2025
PubMed

Insights

Children with Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) show reduced thalamic volume (TV). This finding holds true for both structural and genetic D/EE-SWAS, indicating a widespread impact on brain development.

Area of Science:

  • Neuroscience
  • Pediatric Neurology
  • Medical Imaging

Background:

  • Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS) is a severe neurological condition in children.
  • The thalamus plays a crucial role in cognitive and sensory processing, and its development can be affected in various encephalopathies.

Purpose of the Study:

  • To compare the thalamic volume (TV) in children diagnosed with D/EE-SWAS against age-matched children with well-controlled epilepsy (WCE).
  • To investigate potential differences in thalamic volume between D/EE-SWAS and WCE groups using advanced neuroimaging techniques.

Main Methods:

  • Cross-sectional study involving children aged 5-12 years.
  • Quantitative volumetric analysis of T1-weighted brain MRI sequences using 'volBrain' software to determine absolute and relative thalamic volume (ATV/RTV).
  • Comparison between D/EE-SWAS (n=20) and WCE (n=20) groups, including subgroups with structural lesions and presumed genetic etiology in the D/EE-SWAS cohort.

Main Results:

  • Children with D/EE-SWAS exhibited significantly reduced mean absolute thalamic volume (ATV) and relative thalamic volume (RTV) compared to the WCE group (p < 0.0001 for both).
  • Reduced ATV was detected in 60% of D/EE-SWAS participants, whereas visual inspection identified thalamic involvement in only 30%.
  • Thalamic volume reduction was significant in both structural (n=16) and presumed genetic (n=4) D/EE-SWAS subgroups.

Conclusions:

  • A majority of children with D/EE-SWAS, irrespective of etiology (structural or genetic), demonstrate reduced thalamic volume.
  • Quantitative MRI volumetric analysis is a sensitive method for detecting thalamic abnormalities in D/EE-SWAS.
  • These findings highlight the thalamus as a potential key area affected in D/EE-SWAS.
Abstract