Trial reportAnnals of neurology2020
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Trial report in Annals of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 47 citations in OpenAlex.
- The CDKL5 kinase undergoes liquid-liquid phase separation driven by a serine-rich C-terminal region.Life science alliance · 2026Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Journal of neurodevelopmental disorders · 2026Article
- Trajectory of skill acquisition, loss, and regain in females with classic Rett syndrome.Research square · 2025Article
- Natural history of epilepsy in FOXG1 Syndrome.Epilepsy research · 2025Article
- Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.International journal of molecular sciences · 2025Review
- Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders.Frontiers in integrative neuroscience · 2025Article
- Rett syndrome.Nature reviews. Disease primers · 2024Review
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Rett syndrome: The Natural History Study journey.Annals of the Child Neurology Society · 2024Review
- CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.Developmental medicine and child neurology · 2024Article
- CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description.American journal on intellectual and developmental disabilities · 2024Article
- Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.Journal of neurodevelopmental disorders · 2023Article
- Comparison of evoked potentials across four related developmental encephalopathies.Journal of neurodevelopmental disorders · 2023Article
- Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.European journal of human genetics : EJHG · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Molecular therapy. Methods & clinical development · 2022Review
- Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.Human mutation · 2022Article
- CDKL5 deficiency disorder: clinical features, diagnosis, and management.The Lancet. Neurology · 2022Review
- CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.CNS drugs · 2022Review
- Medical Comorbidities inChildren (Basel, Switzerland) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveRett syndrome, CDKL5-deficiency disorder, FOXG1 disorder, and MECP2 duplication disorder are developmental encephalopathies with shared and distinct features. Although they are historically linked, no direct comparison has been performed. The first head-to-head comparison of clinical features in these conditions is presented.
methodsComprehensive clinical information was collected from 793 individuals enrolled in the Rett and Rett-Related Disorders Natural History Study. Clinical features including clinical severity, regression, and seizures were cross-sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders.
resultsDistinct patterns of clinical severity, seizure onset age, and regression were present. Individuals with CDKL5-deficency disorder were the most severely affected and had the youngest age at seizure onset (2 months), whereas children with MECP2 duplication syndrome had the oldest median age at seizure onset (64 months) and lowest severity scores. Rett syndrome and FOGX1 were intermediate in both features. Smaller head circumference correlates with increased severity in all disorders and earlier age at seizure onset in MECP2 duplication syndrome. Developmental regression occurred in all Rett syndrome participants (median = 18 months) but only 23 to 34% of the other disorders. Seizure incidence prior to the baseline visit was highest for CDKL5 deficiency disorder (96.2%) and lowest for Rett syndrome (47.5%). Other clinical features including seizure types and frequency differed among groups.
interpretationAlthough these developmental encephalopathies share many clinical features, clear differences in severity, regression, and seizures warrant considering them as unique disorders. These results will aid in the development of disease-specific severity scales, precise therapeutics, and future clinical trials. ANN NEUROL 2020;88:396-406.
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