Evidence map›Paper›PMID 33990680›Full record

ArticleCommunications biology2021

Imbalanced social-communicative and restricted repetitive behavior subtypes of autism spectrum disorder exhibit different neural circuitry.

Natasha Bertelsen, Isotta Landi, Richard A I Bethlehem, Jakob Seidlitz, Elena Maria Busuoli, Veronica Mandelli, Eleonora Satta, Stavros Trakoshis, Bonnie Auyeung, Prantik Kundu and 26 more

Registry-linked trialAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06817746 (Fostering Infant Responsivity and Reciprocity - Support to Thrive. A Multisite Randomized Control Trial of a Preemptive Telehealth Intervention for Infants With Early Signs of Autism Spectrum Disorders), which is not on this 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.

NCT06817746 narecruitingnot on this mapstarted 2024, after this paper: background citation

Fostering Infant Responsivity and Reciprocity - Support to Thrive. A Multisite Randomized Control Trial of a Preemptive Telehealth Intervention for Infants With Early Signs of Autism Spectrum Disorders

TypeinterventionalSponsorIRCCS Fondazione Stella MarisRan2024 to 2027Enrolled132ConditionsAutism Spectrum Disorder (ASD)ArmsFIRRST, Parent Education
3 · Its place in the literature

Who cites it

26 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Observational
  6. Review
  7. Article
  8. Article
  9. Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology.Autism research : official journal of the International Society for Autism Research · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  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

36 authors.

Natasha BertelsenLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Isotta LandiLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Richard A I BethlehemDepartment of Psychiatry, University of Cambridge, Cambridge, UK.ORCID 0000-0002-0714-0685
Jakob SeidlitzDepartment of Child and Adolescent Psychiatry and Behavioral Science, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-8164-7476
Elena Maria BusuoliLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Veronica MandelliLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Eleonora SattaLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Stavros TrakoshisLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy.
Bonnie AuyeungDepartment of Psychology, School of Philosophy, Psychology, and Language Sciences, University of Edinburgh, Edinburgh, UK.
Prantik KunduBrain Mapping Unit, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Eva LothSackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Guillaume DumasHuman Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.
Sarah BaumeisterChild and Adolescent Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Christian F BeckmannDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Sven BölteDepartment of Women's and Children's Health; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Karolinska Institutet & Stockholm Health Care Services, Region Stockholm, Stockholm, Sweden.
Thomas BourgeronHuman Genetics and Cognitive Functions, Institut Pasteur, UMR3571 CNRS, Université de Paris, Paris, France.ORCID 0000-0001-8164-9220
Tony CharmanDepartment of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.ORCID 0000-0003-1993-6549
Sarah DurstonDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Christine EckerDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Frankfurt am Main, Goethe University, Frankfurt, Germany.
Rosemary J HoltAutism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Mark H JohnsonDepartment of Psychology, University of Cambridge, Cambridge, UK.
Emily J H JonesCentre for Brain and Cognitive Development, Birkbeck, University of London, Henry Wellcome Building, London, UK.
Luke MasonCentre for Brain and Cognitive Development, Birkbeck, University of London, Henry Wellcome Building, London, UK.
Andreas Meyer-LindenbergDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Carolin MoessnangDepartment of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany.
Marianne OldehinkelDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
Antonio M PersicoChild and Adolescent Neuropsychiatry Unit, Gaetano Martino University Hospital, University of Messina, Messina, Italy.ORCID 0000-0001-8910-4479
Julian TillmannDepartment of Psychology, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Steve C R WilliamsDepartment of Neuroimaging, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Will SpoorenRoche Pharma Research and Early Development, Neuroscience, Ophthalmology and Rare Diseases, Roche Innovation Center Basel, Basel, Switzerland.
Declan G M MurphySackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Jan K BuitelaarDepartment of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.
EU-AIMS LEAP group
Simon Baron-CohenAutism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Meng-Chuan LaiAutism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
Michael V LombardoLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, Rovereto, TN, Italy. michael.lombardo@iit.it.ORCID 0000-0001-6780-8619

Funding

CIHR GSB 171373Department of HealthMedical Research Council MR/T003057/1Wellcome TrustWellcome Trust 098369/Z/12/Z
6 · The paper itself

Abstract

Social-communication (SC) and restricted repetitive behaviors (RRB) are autism diagnostic symptom domains. SC and RRB severity can markedly differ within and between individuals and may be underpinned by different neural circuitry and genetic mechanisms. Modeling SC-RRB balance could help identify how neural circuitry and genetic mechanisms map onto such phenotypic heterogeneity. Here, we developed a phenotypic stratification model that makes highly accurate (97-99%) out-of-sample SC = RRB, SC > RRB, and RRB > SC subtype predictions. Applying this model to resting state fMRI data from the EU-AIMS LEAP dataset (n = 509), we find that while the phenotypic subtypes share many commonalities in terms of intrinsic functional connectivity, they also show replicable differences within some networks compared to a typically-developing group (TD). Specifically, the somatomotor network is hypoconnected with perisylvian circuitry in SC > RRB and visual association circuitry in SC = RRB. The SC = RRB subtype show hyperconnectivity between medial motor and anterior salience circuitry. Genes that are highly expressed within these networks show a differential enrichment pattern with known autism-associated genes, indicating that such circuits are affected by differing autism-associated genomic mechanisms. These results suggest that SC-RRB imbalance subtypes share many commonalities, but also express subtle differences in functional neural circuitry and the genomic underpinnings behind such circuitry.

Indexed as

CommunicationNeural PathwaysStereotyped BehaviorAutism Spectrum DisorderChildChild Behavior DisordersFemaleHumansMagnetic Resonance ImagingMaleNeurodevelopmental Disorders

Identifiers

PMID33990680
PMCPMC8121854

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.