Evidence map›Paper›PMID 37031308›Full record

ArticleJournal of autism and developmental disorders2024

Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.

Caitlin M Hudac, Nicole R Friedman, Victoria R Ward, Rachel E Estreicher, Grace C Dorsey, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Evan E Eichler, Emily Neuhaus

Open access · bronzeAbstract read
In one paragraph

Article in Journal of autism and developmental disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.5field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Degraded sensory coding in a mouse model ofbioRxiv : the preprint server for biology · 2025
    Article
  2. Article
  3. DecodingJournal of clinical medicine · 2025
    Review
  4. Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants.Autism research : official journal of the International Society for Autism Research · 2025
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism Research · 2023
    Article
  10. Review
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

10 authors at 5 institutions in 1 country.

Caitlin M HudacDepartment of Psychology, University of South Carolina, 1800 Gervais Street, Columbia, SC, 29201, USA. chudac@mailbox.sc.edu.ORCID http://orcid.org/0000-0002-0478-440X
Nicole R FriedmanCenter for Youth Development and Intervention, University of Alabama, Tuscaloosa, AL, USA.
Victoria R WardCenter for Youth Development and Intervention, University of Alabama, Tuscaloosa, AL, USA.
Rachel E EstreicherCenter for Youth Development and Intervention, University of Alabama, Tuscaloosa, AL, USA.
Grace C DorseyCenter for Youth Development and Intervention, University of Alabama, Tuscaloosa, AL, USA.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Evangeline C Kurtz-NelsonDepartment of Pediatrics, Indiana University, Indianapolis, IN, USA.
Rachel K EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington, Seattle, WA, USA.
Emily NeuhausDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
University of Alabama · USUniversity of Washington · USHoward Hughes Medical Institute · USIndiana University – Purdue University Indianapolis · USUniversity of South Carolina · US

Funding

Mechanisms of Brain Dysmorphology in MN1 C-Terminal Truncation Syndrome, a Novel Intellectual Developmental Disability Disorder P50HD103524 · NICHD · UNIVERSITY OF WASHINGTON · PI Sandra E Juul · 2020 to 2026
$9.9M
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2M
Phenotypic Characterization of Gene Disrupting Mutations in ASDR01MH100047 · NIMH · UNIVERSITY OF WASHINGTON · PI BERNIER, RAPHAEL A · 2014 to 2018
$2.1M
FamiliesSCN2A Foundation 2019 Action Potential GrantGRIN2B Foundation 2019 Small Grant AwardNICHD NIH HHS P50 HD103524NIMH NIH HHS MH100047NIMH NIH HHS MH101221NIMH NIH HHS R01 MH100047NIMH NIH HHS R01 MH101221
6 · The paper itself

Abstract

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which ~ 70% have a known pathogenic genetic etiology. Caregivers endorsed poor registration (i.e., high sensory threshold, passive behaviors) for all genetic subgroups relative to an "idiopathic" comparison group with an ASD diagnosis and without a known genetic etiology. Genetic profiles indicated prominent sensory seeking in ADNP, CHD8, and DYRK1A, prominent sensory sensitivities in SCN2A, and fewer sensation avoidance behaviors in GRIN2B (relative to the idiopathic ASD comparison group).

Indexed as

Autism Spectrum DisorderIntellectual DisabilityPhenotypeAdolescentAdultChildChild, PreschoolFemaleHumansMaleNAV1.2 Voltage-Gated Sodium ChannelProtein Serine-Threonine KinasesSensationYoung AdultNAV1.2 Voltage-Gated Sodium ChannelProtein Serine-Threonine KinasesAutism spectrum disorderGenetic subgroupsIntellectual disabilitySensory behaviors

Identifiers

PMID37031308
PMCPMC10083138
OpenAlexW4362722255

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.