Evidence map›Paper›PMID 39395029›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2025

Clinical factors associated with genetic diagnosis in suspected neurogenetic disorders in a tertiary care clinic.

Nicole R Wong, Alexandra Klomhaus, David J Adams, Benjamin N Schneider, Sunil Mehta, Charlotte DiStefano, Rujuta B Wilson, Julian A Martinez-Agosto, Shafali S Jeste, Aaron D Besterman

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

10 authors.

Nicole R WongDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD.
Alexandra KlomhausDepartment of General Internal Medicine and Health Services Research, University of California, Los Angeles, CA.
David J AdamsUniversity of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, CA; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA.
Benjamin N SchneiderUniversity of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA.
Sunil MehtaPrairieCare Medical Group, Rochester, MN.
Charlotte DiStefanoChildren's Hospital Los Angeles, Department of Psychiatry, Los Angeles, CA; University of Southern California, Department of Psychiatry and The Biobehavioral Sciences, Los Angeles, CA.
Rujuta B WilsonUniversity of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA.
Julian A Martinez-AgostoUniversity of California Los Angeles, David Geffen School of Medicine, Los Angeles, CA; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, CA; University of California Los Angeles, Department of Human Genetics, Los Angeles, CA.
Shafali S JesteChildren's Hospital Los Angeles, Division of Neurology, Los Angeles, CA; University of Southern California, Departments of Pediatrics and Neurology, Los Angeles, CA.
Aaron D BestermanUniversity of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, CA; Rady Children's Hospital of San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA. Electronic address: abesterman@health.ucsd.edu.

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
UCLA Medical Genetics Training ProgramT32GM008243 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Julian Martinez-Agosto, STANLEY F. NELSON · 1987 to 2026
$6.8M
UCLA Center for Translational Research in Neurodevelopment: UC-TRaNU54HD087101 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2016 to 2020
$6.5M
Quantification of Infant Motor Development to Predict Risk for Neurodevelopmental DisordersK23HD099275 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WILSON, RUJUTA BHATT · 2020 to 2024
$887k
NCATS NIH HHS UL1 TR001881NICHD NIH HHS K23 HD099275NICHD NIH HHS U54 HD087101NIGMS NIH HHS T32 GM008243
6 · The paper itself

Abstract

purposeThis study aimed to identify phenotypic factors associated with genetic diagnoses in patients with neurodevelopmental disorders and generate a decision tree to assist clinicians in identifying patients most likely to receive a positive result on genetic testing.

methodsWe retrospectively reviewed the charts of 316 patients evaluated in a neurodevelopmental clinic between 2014 and 2019. Patients were categorized based on genetic test results. Analyses were performed to identify variables that discriminate between patients with and without a genetic diagnosis.

resultsPatients with a genetic diagnosis were more likely to be female and have a history of motor delay, hypotonia, congenital heart disease, and early intervention. Classification and regression tree analysis revealed that 75% of patients with motor delay had a genetic diagnosis. In patients without motor delay, hypotonia, age of walking, and age at initial evaluation were important indicators of a genetic diagnosis.

conclusionOur findings suggest that motor delay and hypotonia are associated with genetic diagnoses in children with neurodevelopmental disorders. The decision tree highlights patient subsets at greater risk and suggests possible phenotypic screens. Future studies could develop validated decision trees based on phenotypic data to assist clinicians in stratifying patients for genetic testing.

Indexed as

Genetic TestingNeurodevelopmental DisordersAdolescentChildChild, PreschoolDecision TreesFemaleHumansInfantMaleMuscle HypotoniaPhenotypeRetrospective StudiesTertiary Care CentersGenetic diagnosisGenetic testingMotor delayNeurodevelopmental disordersNeurogenetics

Identifiers

PMID39395029
PMCPMC11717587

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.