Evidence map›Paper›PMID 34516910›Full record

ArticleScience advances2021

Atypical genomic cortical patterning in autism with poor early language outcome.

Michael V Lombardo, Lisa Eyler, Tiziano Pramparo, Vahid H Gazestani, Donald J Hagler, Chi-Hua Chen, Anders M Dale, Jakob Seidlitz, Richard A I Bethlehem, Natasha Bertelsen and 6 more

Abstract read
In one paragraph

Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing 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

26 citing papers in PubMed.

  1. Trial
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  4. Review
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  6. Article
  7. Biological subtyping of autism via cross-species fMRI.bioRxiv : the preprint server for biology · 2025
    Article
  8. Article
  9. Article
  10. Article
  11. Deciphering the functional specialization of whole-brain spatiomolecular gradients in the adult brain.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  12. Article
  13. Article
  14. Article
  15. Article
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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

16 authors.

Michael V LombardoLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy.ORCID 0000-0001-6780-8619
Lisa EylerDepartment of Psychiatry, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-7783-8798
Tiziano PramparoAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Vahid H GazestaniAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Donald J HaglerCenter for Multimodal Imaging and Genetics, University of California, San Diego, La Jolla, CA, USA.
Chi-Hua ChenDepartment of Psychiatry, University of California, San Diego, La Jolla, CA, USA.
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-6126-2966
Jakob SeidlitzDepartment of Child and Adolescent Psychiatry and Behavioral Science, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-8164-7476
Richard A I BethlehemAutism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0714-0685
Natasha BertelsenLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, Italy.ORCID 0000-0003-3168-7370
Cynthia Carter BarnesAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0001-7664-1099
Linda LopezAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0001-9782-8143
Kathleen CampbellAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0003-0923-8659
Nathan E LewisDepartment of Pediatrics, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0001-7700-3654
Karen PierceAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0001-7690-1030
Eric CourchesneAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-3772-5799

Funding

TARGETING GENETIC PATHWAYS FOR BRAIN OVERGROWTH IN AUTISM SPECTRUM DISORDERSP50MH081755 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI COURCHESNE, ERIC · 2007 to 2013
$10.3M
Detection of ASD at the 1st birthday as standard of care: The Get SET Early ModelR01MH104446 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PIERCE, KAREN L · 2014 to 2018
$6.0M
INVESTIGATON OF COGNITIVE DYSFUNCTION IN AUTISMR01MH036840 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI COURCHESNE, ERIC · 1985 to 2011
$5.9M
Mosaicism in focal cortical dysplasias spectrum seen in neuropsychiatric diseaseU01MH108898 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2015 to 2019
$5.1M
1/2-Testing the impact of early screening on the long-term outcomes of children with ASDR01MH121595 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PIERCE, KAREN L · 2020 to 2023
$4.9M
Studying the Biology and Behavior of Autism at 1-Year: The Well-Baby Check-Up AppR01MH080134 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PIERCE, KAREN L · 2008 to 2017
$3.3M
Developmental Functional Genomics in ASD ToddlersR01MH110558 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI COURCHESNE, ERIC, LEWIS, NATHAN ENOCH · 2016 to 2020
$3.0M
Discovering Neural Biomarkers of Language and Social Development in ASD ToddlersR01DC016385 · NIDCD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI COURCHESNE, ERIC, PIERCE, KAREN L · 2017 to 2021
$3.0M
Genetic architecture of the human brain and neuropsychiatric disordersR01MH118281 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI CHEN, CHI-HUA · 2019 to 2023
$2.7M
Utah Stimulating Access to Research in Residency Transition Scholar (StARRTS)R38HL143605 · NHLBI · UNIVERSITY OF UTAH · PI CONROY, MARGARET B, OKUYEMI, KOLAWOLE S · 2018 to 2021
$1.3M
Medical Research Council MR/M009041/1NHLBI NIH HHS R38 HL143605NIDCD NIH HHS R01 DC016385NIMH NIH HHS P50 MH081755NIMH NIH HHS R01 MH036840NIMH NIH HHS R01 MH080134NIMH NIH HHS R01 MH104446NIMH NIH HHS R01 MH110558NIMH NIH HHS R01 MH118281NIMH NIH HHS R01 MH121595NIMH NIH HHS U01 MH108898
6 · The paper itself

Abstract

Cortical regionalization develops via genomic patterning along anterior-posterior (A-P) and dorsal-ventral (D-V) gradients. Here, we find that normative A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT), present in typically developing and autistic toddlers with good early language outcome, is absent in autistic toddlers with poor early language outcome. Autistic toddlers with poor early language outcome are instead specifically characterized by a secondary and independent genomic patterning effect on CT. Genes involved in these effects can be traced back to midgestational A-P and D-V gene expression gradients and different prenatal cell types (e.g., progenitor cells and excitatory neurons), are functionally important for vocal learning and human-specific evolution, and are prominent in prenatal coexpression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be explained by atypical genomic cortical patterning starting in prenatal development, which may detrimentally affect later regional functional specialization and circuit formation.

Identifiers

PMID34516910
PMCPMC8442861

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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.