Evidence map›Paper›PMID 39350038›Full record

ArticleJournal of neurodevelopmental disorders2024

Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.

Ohad Regev, Apurba Shil, Tal Bronshtein, Amnon Hadar, Gal Meiri, Dikla Zigdon, Analya Michaelovski, Reli Hershkovitz, Idan Menashe

Abstract read
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In one paragraph

Article in Journal of neurodevelopmental disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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

9 authors.

Ohad RegevJoyce & Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Apurba ShilDepartment of Epidemiology, Biostatistics and Community Health Sciences, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Tal BronshteinJoyce & Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Amnon HadarClalit Health Services, Beer-Sheva, Israel.
Gal MeiriPreschool Psychiatric Unit, Soroka University Medical Center, Beer-Sheva, Israel.
Dikla ZigdonPreschool Psychiatric Unit, Soroka University Medical Center, Beer-Sheva, Israel.
Analya MichaelovskiAzrieli National Center for Autism and Neurodevelopment Research, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Reli HershkovitzDivision of Obstetrics and Gynecology, Soroka University Medical Center, Beer-Sheva, Israel.
Idan MenasheDepartment of Epidemiology, Biostatistics and Community Health Sciences, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel. idanmen@bgu.ac.il.ORCID 0000-0003-1961-1461

Funding

Israel Science Foundation 1092/21
6 · The paper itself

Abstract

backgroundRecent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD.

methodsThe study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children.

resultsThe study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016).

conclusionsThe results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development.

Indexed as

Autism Spectrum DisorderExome SequencingUltrasonography, PrenatalChildChild, PreschoolCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMalePregnancyAutism spectrum disorderCongenital anomaliesFetal developmentGenetic mutationsPrenatal ultrasoundUltrasonography fetal anomaliesWhole-exome sequencing

Identifiers

PMID39350038
PMCPMC11443733

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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.