Evidence map›Paper›PMID 19693459›Full record

ReviewWorld journal of pediatrics : WJP2009

Syndromic autism: causes and pathogenetic pathways.

Arianna Benvenuto, Romina Moavero, Riccardo Alessandrelli, Barbara Manzi, Paolo Curatolo

Abstract readReview
PubMed Publisher
In one paragraph

Review in World journal of pediatrics : WJP, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 7% 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Vaccines and autism: a preliminary qualitative study on the beliefs of concerned mothers in Italy.International journal of qualitative studies on health and well-being · 2020
    Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Medical journal of the Islamic Republic of Iran · 2019
    Article
  15. Review
  16. Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort.Journal of autism and developmental disorders · 2016
    Article
  17. Observational
  18. Review
  19. Article
  20. 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

5 authors at 1 institution in 1 country.

Arianna BenvenutoDepartment of Neuroscience, Pediatric Neurology Unit, Tor Vergata University, via Montpellier 1, 00133, Rome, RM, Italy.
Romina Moavero
Riccardo Alessandrelli
Barbara Manzi
Paolo Curatolo
University of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutism is a severe neurodevelopmental disorder known to have many different etiologies. In the last few years, significant progresses have been made in comprehending the causes of autism and their multiple impacts on the developing brain. This article aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype. DATA SOURCES: The PubMed database was searched with the keywords "autism" and "chromosomal abnormalities", "metabolic diseases", "susceptibility loci".

resultsGenetic syndromes, defined mutations, and metabolic diseases account for less than 20% of autistic patients. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in fragile X syndrome and tuberous sclerosis complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth and synaptic/dendritic morphology. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems.

conclusionsA wide variety of cytogenetic abnormalities have been recently described, particularly in the low functioning individuals with dysmorphic features. Routine metabolic screening studies should be performed in the presence of autistic regression or suggestive clinical findings. As etiologies of autism are progressively discovered, the number of individuals with idiopathic autism will progressively shrink. Studies of genetic and environmentally modulated epigenetic factors are beginning to provide some clues to clarify the complexities of autism pathogenesis. The role of the neuropediatrician will be to understand the neurological basis of autism, and to identify more homogenous subgroups with specific biologic markers.

Indexed as

Autistic DisorderCentral Nervous SystemChildChromosome AberrationsChromosomes, Human, Pair 15Chromosomes, Human, Pair 16Chromosomes, Human, Pair 2Chromosomes, Human, Pair 7ComorbidityFragile X SyndromeHumansMutationTuberous Sclerosis

Identifiers

PMID19693459
OpenAlexW1983076227

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.