Evidence map›Paper›PMID 42573453›Full record

ArticleEpilepsia2026

Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort.

Fiona S McEwen, Abigail K Runicles, Holan Liang, Emma Woodhouse, Lisa Underwood, Elizabeth Shephard, Edward D Barker, Fintan Sheerin, Juul W Steenbruggen, Tuberous Sclerosis 2000 Study Group and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Fiona S McEwenDepartment of War Studies, King's College London, London, UK.ORCID https://orcid.org/0000-0002-5562-481X
Abigail K RuniclesDepartment of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0002-6027-5503
Holan LiangAutism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.ORCID https://orcid.org/0000-0001-6650-9449
Emma WoodhouseForensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0003-3209-6329
Lisa UnderwoodCentre of Methods and Policy Application in the Social Sciences Research Centre, Faculty of Arts and Education, Waipapa Taumata Rau, University of Auckland, Auckland, New Zealand.ORCID https://orcid.org/0000-0001-7775-8272
Elizabeth ShephardDepartment of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0002-5952-3565
Edward D BarkerDepartment of Psychology, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0002-9914-8958
Fintan SheerinDepartment of Neuroradiology, Oxford University Hospitals, Oxford, UK.ORCID https://orcid.org/0000-0002-9891-7612
Juul W SteenbruggenDepartment of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
Tuberous Sclerosis 2000 Study Group
John R W YatesDepartment of Genomic Medicine, University of Cambridge, Cambridge, UK.
Charlotte TyeDepartment of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0002-8567-9547
Patrick F BoltonDepartment of Child & Adolescent Psychiatry, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.ORCID https://orcid.org/0000-0002-5270-6262

Funding

Autism Speaks 7696Baily Thomas Charitable Fund Trust/RNA/AC/KW/36/4901Tuberous Sclerosis Association 20122TS2000
6 · The paper itself

Abstract

The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125). Data on mutation status, cortical tuber burden (magnetic resonance imaging/computed tomography), seizure history, and cognitive ability were collected. Approximately 10 years later, follow-up assessments of autism, cognitive ability, and epilepsy were completed (n = 86). Almost 40% of participants met diagnostic criteria for autism, with an additional 42% showing elevated autistic traits. Structural equation modeling identified two indirect pathways linking TSC1/TSC2 mutation with the autism factor score: one via higher cortical tuber burden and infantile spasms and one via spasms alone. Concurrent seizure severity and lower intelligence quotient scores were also associated with higher autism factor scores. These findings provide preliminary longitudinal evidence supporting developmental associations between genetic vulnerability, cortical pathology, and early severe epilepsy with later autism. This highlights the importance of further investigation of early epileptic activity and associated neurodevelopmental outcomes in TSC and may inform understanding of epilepsy-related pathways associated with autism.

Indexed as

Autism Spectrum DisorderAutistic DisorderTuberous SclerosisAdolescentChildChild, PreschoolEpilepsyFemaleHumansInfantLongitudinal StudiesMagnetic Resonance ImagingMaleMutationSpasms, InfantileTuberous Sclerosis Complex 1 ProteinTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinTumor Suppressor Proteinsautism spectrum disorderepilepsyinfantile spasmslongitudinaltuberous sclerosis complex

Identifiers

PMID42573453
PMCPMC13675775

What OpenQuestion holds

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Registered trials

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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.