ArticleJournal of child neurology2021
Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.
Article in Journal of child neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05558371 (Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder), which is not on this map. Cited by 20 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.
Multi-Site Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trials Readiness in CDKL5 Deficiency Disorder
Who cites it
20 citing papers in PubMed.
- Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.Journal of child neurology · 2026Article
- CDKL5 deficiency results in atypical subregion-specific expression of perineuronal nets during mouse visual critical period.Frontiers in neuroscience · 2026Article
- CDKL5 Deficiency Disorder: Revealing the Molecular Mechanism of Pathogenic Variants.International journal of molecular sciences · 2025Article
- Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes.Cell reports · 2025Article
- Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder.American journal of medical genetics. Part A · 2025Article
- Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity.Epilepsia open · 2024Article
- Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.Systematic reviews · 2024Article
- Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.American journal of medical genetics. Part A · 2024Article
- Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey.Epilepsia open · 2024Review
- Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.Neurology. Clinical practice · 2024Article
- The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.Epilepsy research · 2023Article
- Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.Annals of neurology · 2023Observational
- Research progress on the pathogenesis of CDKL5 pathogenic variants and related encephalopathy.European journal of pediatrics · 2023Review
- Comparison of evoked potentials across four related developmental encephalopathies.Journal of neurodevelopmental disorders · 2023Article
- Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.American journal of medical genetics. Part A · 2022Article
- Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder.Journal of sleep research · 2022Article
- CDKL5 deficiency disorder: clinical features, diagnosis, and management.The Lancet. Neurology · 2022Review
- International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.Frontiers in neurology · 2022Article
- Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.Brain communications · 2022Article
- Cortical Visual Impairment in CDKL5 Deficiency Disorder.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder is a rare neurodevelopmental disorder characterized by infantile-onset refractory epilepsy, profound developmental delays, and cerebral visual impairment. Although there is evidence that the presence of cerebral visual impairment in CDKL5 deficiency disorder is common, the potential impact of cerebral visual impairment severity on developmental attainment has not been explored directly. Focusing on a cohort of 46 children with CDKL5 deficiency disorder, examination features indicative of cerebral visual impairment were quantified and compared to developmental achievement. The derived cerebral visual impairment severity score was inversely correlated with developmental attainment, bolstering the supposition that cerebral visual impairment severity may provide a useful early biomarker of disease severity and prognosis. This study demonstrates the utility of a cerebral visual impairment score to better capture the range of cerebral visual impairment severity in the CDKL5 deficiency disorder population and further elucidates the interaction between cerebral visual impairment and developmental outcomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.