Evidence map›Paper›PMID 19955444›Full record

ReviewProceedings of the National Academy of Sciences of the United States of America2010

Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia.

Bernard Crespi, Philip Stead, Michael Elliot

2 registry-linked trialsAbstract readComparative StudyReview
In one paragraph

Review in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 138 papers, 9 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
138citing papers in PubMed, 9 pooled it
13.2field-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.

NCT02746445 completednot on this mapstarted 2016, after this paper: background citation

A Longitudinal Study on the Safety and Efficacy for Subjects With Autism Spectrum Disorder (ASD) Who Received Magnetic EEG/ECG-Guided Resonance Therapy (MeRT)

TypeobservationalSponsorWave NeuroscienceRan2016 to 2017Enrolled11ConditionsAutistic DisorderArmsNo intervention
NCT02758496 completednot on this mapstarted 2016, after this paper: background citation

A Chart Review to Evaluate the Safety and Efficacy of Magnetic EEG/ECG-Guided Resonance Therapy (MeRT) on Subjects With Autism Spectrum Disorder (ASD)

TypeobservationalSponsorWave NeuroscienceRan2016 to 2017Enrolled141ConditionsAutistic DisorderArmsMeRT Efficacy Chart Review
3 · Its place in the literature

Who cites it

138 citing papers in PubMed, 9 syntheses or guidelines pooled it, 261 citations in OpenAlex.

  1. Pooled it
  2. MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020
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  9. Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013
    Pooled it
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  13. Alteration in CaMolecular biology reports · 2025
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78 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

3 authors at 1 institution in 1 country.

Bernard CrespiDepartment of Biological Sciences, Simon Fraser University, Burnaby, BC, Canada. crespi@sfu.ca
Philip Stead
Michael Elliot
Simon Fraser University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We used data from studies of copy-number variants (CNVs), single-gene associations, growth-signaling pathways, and intermediate phenotypes associated with brain growth to evaluate four alternative hypotheses for the genomic and developmental relationships between autism and schizophrenia: (i) autism subsumed in schizophrenia, (ii) independence, (iii) diametric, and (iv) partial overlap. Data from CNVs provides statistical support for the hypothesis that autism and schizophrenia are associated with reciprocal variants, such that at four loci, deletions predispose to one disorder, whereas duplications predispose to the other. Data from single-gene studies are inconsistent with a hypothesis based on independence, in that autism and schizophrenia share associated genes more often than expected by chance. However, differentiation between the partial overlap and diametric hypotheses using these data is precluded by limited overlap in the specific genetic markers analyzed in both autism and schizophrenia. Evidence from the effects of risk variants on growth-signaling pathways shows that autism-spectrum conditions tend to be associated with up-regulation of pathways due to loss of function mutations in negative regulators, whereas schizophrenia is associated with reduced pathway activation. Finally, data from studies of head and brain size phenotypes indicate that autism is commonly associated with developmentally-enhanced brain growth, whereas schizophrenia is characterized, on average, by reduced brain growth. These convergent lines of evidence appear most compatible with the hypothesis that autism and schizophrenia represent diametric conditions with regard to their genomic underpinnings, neurodevelopmental bases, and phenotypic manifestations as reflecting under-development versus dysregulated over-development of the human social brain.

Indexed as

GenomicsAutistic DisorderGene DosageHumansSchizophrenia

Identifiers

PMID19955444
PMCPMC2868282
OpenAlexW2021377987

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.