Evidence map›Paper›PMID 39399028›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Beyond the Spectrum: Subtype-Specific Molecular Insights into Autism Spectrum Disorder Via Multimodal Data Integration.

Javad Zahiri, Mehdi Mirzaie, Kuaikuai Duan, Yaqiong Xiao, Caitlin Aamodt, Xiaotong Yang, Sanaz Nazari, Charlene Andreason, Linda Lopez, Cynthia Carter Barnes and 9 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

19 authors.

Javad ZahiriAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.ORCID 0000-0002-8360-2458
Mehdi MirzaieTranslational Neuroscience, Department of Pharmacology, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.
Kuaikuai DuanAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Yaqiong XiaoCenter for Language and Brain, Shenzhen Institute of Neuroscience, Shenzhen, China.
Caitlin AamodtDepartment of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
Xiaotong YangDepartment of Computation Medicine and Bioinformatics, University of Michigan, MI, USA.
Sanaz NazariAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Charlene AndreasonAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Linda LopezAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Cynthia Carter BarnesAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Steven AriasAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Srinivasa NalaboluAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Lana GarmireDepartment of Computation Medicine and Bioinformatics, University of Michigan, MI, USA.
Tianyun WangDepartment of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Karen PierceAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.
Nathan E LewisDepartment of Pediatrics, University of California, San Diego, La Jolla, CA, USA.
Eric CourchesneAutism Center of Excellence, Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA.

Funding

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
Discovering Eye Tracking Biomarkers of ASD with Diagnostic and Prognostic PowerR01MH118879 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PIERCE, KAREN L · 2019 to 2023
$3.7M
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
NIDCD NIH HHS R01 DC016385NIMH NIH HHS R01 MH104446NIMH NIH HHS R01 MH118879
6 · The paper itself

Abstract

Some toddlers with autism spectrum disorder (ASD) have mild social symptoms and developmental improvement in skills, but for others, symptoms and abilities are moderately or even severely affected. Those with profound autism have the most severe social, language, and cognitive symptoms and are at the greatest risk of having a poor developmental outcome. The little that is known about the underlying biology of this important profound autism subtype, points clearly to embryonic dysregulation of proliferation, differentiation and neurogenesis. Because it is essential to gain foundational knowledge of the molecular biology associated with profound, moderate, and mild autism clinical subtypes, we used well-validated, data-driven patient subtyping methods to integrate clinical and molecular data at 1 to 3 years of age in a cohort of 363 ASD and controls representative of the general pediatric population in San Diego County. Clinical data were diagnostic, language, cognitive and adaptive ability scores. Molecular measures were 50 MSigDB Hallmark gene pathway activity scores derived from RNAseq gene expression. Subtyping identified four ASD, typical and mixed diagnostic clusters. 93% of subjects in one cluster were profound autism and 93% in a different cluster were control toddlers; a third cluster was 76% moderate ability ASD; and the last cluster was a mix of mild ASD and control toddlers. Among the four clusters, the profound autism subtype had the most severe social symptoms, language, cognitive, adaptive, social attention eye tracking, social fMRI activation, and age-related decline in abilities, while mild autism toddlers mixed within typical and delayed clusters had mild social symptoms, and neurotypical language, cognitive and adaptive scores that improved with age compared with profound and moderate autism toddlers in other clusters. In profound autism, 7 subtype-

Identifiers

PMID39399028
PMCPMC11469458

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.