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Epileptic spasms with terror during sleep in CDKL5 encephalopathy
Gia Melikishvili1, Artem Sharkov2,3, Tamar Gachechiladze1
1Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi, Georgia.
Summary
Early seizures in infants with Cyclin-Dependent Kinase-Like 5 (CDKL5) encephalopathy, characterized by spasms during sleep, are key diagnostic clues. Specific interventions targeting sleep patterns may offer therapeutic benefits.
Area of Science:
- Pediatric Neurology
- Epileptology
- Clinical Genetics
Background:
- Cyclin-Dependent Kinase-Like 5 (CDKL5) encephalopathy is a severe neurodevelopmental disorder.
- Refractory epilepsy is a hallmark of CDKL5 encephalopathy, posing significant treatment challenges.
- Early diagnostic markers are crucial for timely intervention and improved outcomes.
Purpose of the Study:
- To identify early diagnostic clues for CDKL5 encephalopathy.
- To characterize seizure semiology and EEG patterns in affected infants.
- To evaluate treatment strategies and developmental outcomes.
Main Methods:
- Retrospective study of 35 patients with confirmed CDKL5 gene mutations or deletion.
- Analysis of early seizure semiology, EEG findings, treatment responses, and developmental trajectories.
- Focus on seizures occurring during sleep and their specific characteristics.
Main Results:
- Seizures, often starting in sleep around 6 weeks of age, presented with tonic, clonic, and spasm phases.
- Clusters of spasms mimicking sleep terror occurred in 80% of patients during quiet or slow-wave sleep.
- Conventional treatments were largely ineffective, but programmed awakening and low-dose clonazepam showed some benefit.
Conclusions:
- Spasms originating during slow-wave sleep are a significant early diagnostic indicator for CDKL5 encephalopathy.
- Sleep video-EEG polygraphy is effective for detecting these early seizures in infants.
- Therapeutic strategies targeting sleep terror may be beneficial, warranting further investigation into spasm generation mechanisms.
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