Evidence map›Paper›PMID 33167418›Full record

ReviewInternational journal of molecular sciences2020

An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity.

Elena Masini, Eleonora Loi, Ana Florencia Vega-Benedetti, Marinella Carta, Giuseppe Doneddu, Roberta Fadda, Patrizia Zavattari

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
133citing papers in PubMed, 5 pooled it
14.0field-weighted citation impact, top 1% 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

133 citing papers in PubMed, 5 syntheses or guidelines pooled it, 257 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Valproate Exposure as anCNS & neurological disorders drug targets · 2025
    Pooled it
  4. Pooled it
  5. Pooled it
  6. Trial
  7. Iron dysregulation in the central nervous system: implications for autism spectrum disorder.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026
    Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Environmental pollutants and autism spectrum disorder: Effects of plasticizers on core phenotypes and molecular targets.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  19. Review
  20. Review

73 more citing papers are in PubMed but not listed here.

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

7 authors at 3 institutions in 1 country.

Elena MasiniDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy.
Eleonora LoiDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy.
Ana Florencia Vega-BenedettiDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy.ORCID 0000-0002-9725-0473
Marinella CartaCenter for Pervasive Developmental Disorders, Azienda Ospedaliera Brotzu, 09121 Cagliari, Italy.
Giuseppe DonedduCentro per l'Autismo e Disturbi correlati (CADc), Nuovo Centro Fisioterapico Sardo, 09131 Cagliari, Italy.
Roberta FaddaDepartment of Pedagogy, Psychology, Philosophy, University of Cagliari, 09123 Cagliari, Italy.ORCID 0000-0002-4862-4213
Patrizia ZavattariDepartment of Biomedical Sciences, Unit of Biology and Genetics, University of Cagliari, 09042 Cagliari, Italy.ORCID 0000-0002-0481-092X
University of Cagliari · ITAzienda Ospedaliera G. Brotzu · ITCentro Diagnostico Italiano · IT

Funding

Fondazione di Sardegna BSPROG21/2017
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset.

Indexed as

EnvironmentAutism Spectrum DisorderDNA MethylationEpigenesis, GeneticGene-Environment InteractionGenetic Association StudiesHumansMicroRNAsSynapsesSynaptic TransmissionMicroRNAsASDautism spectrum disorderCNVenvironmental factorsepigenetic factorsgene fusiongenetic factorspervasive developmental disorderpost-synaptic densitySNP

Identifiers

PMID33167418
PMCPMC7663950
OpenAlexW3097766161

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.