ArticleDevelopmental medicine and child neurology2020
Long-term cognitive outcomes in tuberous sclerosis complex.
Article in Developmental medicine and child neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- The neurodevelopmental spectrum of CASK-related disorder.Journal of neurodevelopmental disorders · 2025Pooled it
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Annals of clinical and translational neurology · 2020Trial
- Common and rare genetic variant associations with cognitive performance across development in British birth cohorts.Nature human behaviour · 2026Article
- Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.Journal of neurology · 2026Article
- ENT1 inhibitor J4 restores cognitive function and white-matter integrity in a mouse model of tuberous sclerosis complex.Journal of biomedical science · 2026Article
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Early motor trajectories in infants at increased genetic likelihood for autism.Frontiers in developmental psychology · 2026Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Neuropsychiatric disorders in Chinese pediatric tuberous sclerosis complex patients associated with drug-resistant epilepsy: A TAND checklist-based survey.Epilepsy & behavior reports · 2025Article
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Review
- Caregiver burden associated with caring for individuals with tuberous sclerosis complex-associated seizures: A descriptive, non-interventional survey in Sweden.Epilepsy & behavior reports · 2025Article
- Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures.Journal of child neurology · 2024Article
- A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.Orphanet journal of rare diseases · 2023Observational
- Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.BMC pediatrics · 2023Observational
- Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex.Current issues in molecular biology · 2023Review
- The Burden of Caring for Individuals with Tuberous Sclerosis Complex (TSC) Who Experience Epileptic Seizures: A Descriptive UK Survey.PharmacoEconomics - open · 2023Article
- Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.Current developmental disorders reports · 2023Review
- Patient and Caregiver Health State Utilities in Tuberous Sclerosis Complex.PharmacoEconomics - open · 2022Article
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
Abstract
aimTo investigate the interdependence between risk factors associated with long-term intellectual development in individuals with tuberous sclerosis complex (TSC).
methodThe Tuberous Sclerosis 2000 Study is a prospective longitudinal study of individuals with TSC. In phase 1 of the study, baseline measures of intellectual ability, epilepsy, cortical tuber load, and mutation were obtained for 125 children (63 females, 62 males; median age=39mo). In phase 2, at an average of 8 years later, intellectual abilities were estimated for 88 participants with TSC and 35 unaffected siblings. Structural equation modelling was used to determine the risk pathways from genetic mutation through to IQ at phase 2.
resultsIntellectual disability was present in 57% of individuals with TSC. Individuals without intellectual disability had significantly lower mean IQ compared to unaffected siblings, supporting specific genetic factors associated with intellectual impairment. Individuals with TSC who had a slower gain in IQ from infancy to middle childhood were younger at seizure onset and had increased infant seizure severity. Structural equation modelling indicated indirect pathways from genetic mutation, to tuber count, to seizure severity in infancy, through to IQ in middle childhood and adolescence.
interpretationEarly-onset and severe epilepsy in the first 2 years of life are associated with increased risk of long-term intellectual disability in individuals with TSC, emphasizing the importance of early and effective treatment or prevention of epilepsy. WHAT THIS PAPER ADDS: Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings. Earlier onset and greater severity of seizures in the first 2 years were observed in individuals with a slower gain in intellectual ability. Risk pathways through seizures in the first 2 years predict long-term cognitive outcomes in individuals with TSC.
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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.