Evidence map›Paper›PMID 38622540›Full record

ArticleJournal of neurodevelopmental disorders2024

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.

Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C Kurtz-Nelson, Rachel Earl and 2 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
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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

12 authors at 4 institutions in 1 country.

Emily NeuhausDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA. eneuhaus@uw.edu.ORCID 0000-0003-1762-0348
Hannah ReaDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Elizabeth JonesDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Hannah BenavidezDepartment of Psychology, University of Washington, Seattle, WA, USA.
Conor MilesDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Alana WhitingDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Margaret JohanssonDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Curtis EayrsDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Evangeline C Kurtz-NelsonDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
Rachel EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
University of Washington · USHoward Hughes Medical Institute · USIndiana University School of MedicineSeattle Children's Hospital · US

Funding

Leveraging rare genetic etiologies to advance knowledge and treatment of neurpsychiatric disordersU01MH119705 · NIMH · GEISINGER CLINIC · PI LEDBETTER, DAVID H., MARTIN, CHRISTA LESE · 2019 to 2023
$9.2M
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
Howard Hughes Medical InstituteNIMH NIH HHS R01 MH100047NIMH NIH HHS R01MH100047NIMH NIH HHS R01 MH101221NIMH NIH HHS R01MH101221NIMH NIH HHS U01 MH119705NIMH NIH HHS U01MH119705-02S1
6 · The paper itself

Abstract

backgroundNeurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice. In this paper, we evaluate behavioral features within three gene groups associated with ID and ASD - ADNP, CHD8, and DYRK1A - with two aims: (1) characterize phenotypes across behavioral domains of anxiety, depression, ADHD, and challenging behavior; and (2) understand whether age and early developmental milestones are associated with later mental health outcomes.

methodsPhenotypic data were obtained for youth with disruptive variants in ADNP, CHD8, or DYRK1A (N = 65, mean age = 8.7 years, 40% female) within a long-running, genetics-first study. Standardized caregiver-report measures of mental health features (anxiety, depression, attention-deficit/hyperactivity, oppositional behavior) and developmental history were extracted and analyzed for effects of gene group, age, and early developmental milestones on mental health features.

resultsPatterns of mental health features varied by group, with anxiety most prominent for CHD8, oppositional features overrepresented among ADNP, and attentional and depressive features most prominent for DYRK1A. For the full sample, age was positively associated with anxiety features, such that elevations in anxiety relative to same-age and same-sex peers may worsen with increasing age. Predictive utility of early developmental milestones was limited, with evidence of early language delays predicting greater difficulties across behavioral domains only for the CHD8 group.

conclusionsDespite shared associations with autism and intellectual disability, disruptive variants in ADNP, CHD8, and DYRK1A may yield variable psychiatric phenotypes among children and adolescents. With replication in larger samples over time, efforts such as these may contribute to improved clinical care for affected children and adolescents, allow for earlier identification of emerging mental health difficulties, and promote early intervention to alleviate concerns and improve quality of life.

Indexed as

Autism Spectrum DisorderIntellectual DisabilityNeurodevelopmental DisordersAdolescentChildDNA-Binding ProteinsDyrk KinasesFemaleHomeodomain ProteinsHumansMaleMental HealthNerve Tissue ProteinsQuality of LifeTranscription FactorsADNP protein, humanCHD8 protein, humanDNA-Binding ProteinsDYRK1A protein, humanDyrk KinasesHomeodomain ProteinsNerve Tissue ProteinsTranscription FactorsADNPASDAutismCHD8DYRK1AMental healthNeurodevelopmental conditionsPhenotyping; genetics

Identifiers

PMID38622540
PMCPMC11017562
OpenAlexW4394819842

What OpenQuestion holds

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Registered trials

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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.