Evidence map›Paper›PMID 37878130›Full record

ReviewWorld journal of pediatrics : WJP2024

Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronica

Open access · greenAbstract readReview
PubMed Publisher
In one paragraph

Review in World journal of pediatrics : WJP, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.8field-weighted citation impact, top 9% of its field
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

11 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Review
  4. Review
  5. Review
  6. The Development of Methods of BLOTCHIPCurrent issues in molecular biology · 2025
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
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

5 authors at 3 institutions in 2 countries.

Paolo CuratoloChild Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, Rome, Italy.
Mirte ScheperDepartment of Neuropathology, Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Leonardo Emberti GialloretiDepartment of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Nicola SpecchioClinical and Experimental Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Piazza S. Onofrio 4, 00165, Rome, Italy. nicola.specchio@opbg.net.ORCID 0000-0002-8120-0287
Eleonora AronicaDepartment of Neuropathology, Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Amsterdam Neuroscience · NLUniversity of Rome Tor Vergata · ITBambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in the TSC1 and TSC2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mTOR) signaling pathway in fetal life. The mTOR pathway plays a crucial role in several brain processes leading to TSC-related epilepsy, intellectual disability, and autism spectrum disorder (ASD). Pre-natal or early post-natal diagnosis of TSC is now possible in a growing number of pre-symptomatic infants. DATA SOURCES: We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms "tuberous sclerosis", "autism", or "autism spectrum disorder"," animal models", "preclinical studies", "neurobiology", and "treatment".

resultsProspective studies have highlighted that developmental trajectories in TSC infants who were later diagnosed with ASD already show motor, visual and social communication skills in the first year of life delays. Reliable genetic, cellular, electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and epilepsy.

conclusionsPreventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.

Indexed as

Autism Spectrum DisorderAutistic DisorderEpilepsyTuberous SclerosisAnimalsHumansInfantMammalsProspective StudiesTOR Serine-Threonine KinasesTOR Serine-Threonine KinasesAnimal modelAutism spectrum disordersDevelopmental and epileptic encephalopathyMechanismsmTORRiskTuberos sclerosis complex

Identifiers

PMID37878130
OpenAlexW4387931118

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.