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Published on: December 18, 2016
Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy
Pia Bernardo1, Alessandro Ferretti2, Gaetano Terrone3
1Department of Paediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Department of Translational Medical Sciences, Child and Adolescent Neuropsychiatry, University of Naples Federico II, Naples.
Insights
CDKL5 disorder, an early-infantile epileptic encephalopathy, involves severe neurodevelopmental impairment. The "honeymoon period" indicates epilepsy outcome but not developmental severity in CDKL5-related disorder.
Area of Science:
- Neuroscience
- Genetics
- Epilepsy Research
Background:
- CDKL5-related disorder is an early-infantile epileptic encephalopathy.
- Previously considered a variant of Rett syndrome, it's now recognized as distinct.
- Characterized by severe neurodevelopmental impairment and early-onset epilepsy.
Purpose of the Study:
- To further characterize CDKL5-related disorder.
- To describe the epileptic phenotype and neurocognitive development in affected individuals.
- To explore the relationship between electroclinical features and neurological development.
Main Methods:
- Case series analysis of three girls with CDKL5 mutations.
- Detailed description of epileptic phenotypes, including seizure onset, frequency, and EEG features.
- Assessment of neurocognitive development and natural history of the disorder.
Main Results:
- Patients exhibited varying epileptic phenotypes and developmental severity.
- The
- honeymoon period
- (seizure-free >2 months) correlated with epilepsy outcome, not developmental impairment severity.
- Interictal EEG abnormalities persisted even during the
- honeymoon period
- .
Conclusions:
- CDKL5 mutations appear to directly impact psychomotor development.
- Epilepsy is a significant clinical feature of CDKL5-related disorder.
- Understanding the electroclinical features is crucial for managing this complex condition.
Abstract:
To further characterise CDKL5-related disorder, previously classified as an early-onset seizure variant of Rett syndrome, which is currently considered a specific and independent early-infantile epileptic encephalopathy. We describe the epileptic phenotype and neurocognitive development in three girls with CDKL5 mutations showing severe neurodevelopmental impairment, with different epileptic phenotypes and severity. The patients differed regarding age at epilepsy onset, seizure frequency, duration of "honeymoon periods", as well as EEG features. The "honeymoon period", defined as a seizure-free period longer than two months, represented, in our case series, a good indicator of the epilepsy outcome, but not of the severity of developmental impairment. However, even during the "honeymoon period", the interictal EEG showed epileptiform abnormalities, slowing, or a disappearance of physiological pattern. The natural history of CDKL5 disorder was compared between the three girls, focusing on the relationship between electroclinical features and neurological development. Our findings suggest that CDKL5 mutations likely play a direct role in psychomotor development, whereas epilepsy is one of the clinical features associated with this complex disorder.
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