Evidence map›Paper›PMID 32943312›Full record

ArticleSchizophrenia research2020

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome.

Matthew K Harner, Maya Lichtenstein, Martilias Farrell, Tyler E Dietterich, Dawn M Filmyer, Lisa M Bruno, Tamara F Biondi, James J Crowley, Gabriel Lázaro-Muñoz, Robert Stowe and 5 more

Open access · greenAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Schizophrenia research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 16% 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

6 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Copy Number Variations and Schizophrenia.Molecular neurobiology · 2023
    Review
  6. 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

15 authors at 4 institutions in 3 countries.

Matthew K HarnerTranslational Neuroscience LLC, Conshohocken, PA, USA.
Maya LichtensteinDepartment of Neurology, Geisinger Health System, Wilkes Barre, PA, USA.
Martilias FarrellDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA.
Tyler E DietterichTranslational Neuroscience LLC, Conshohocken, PA, USA.
Dawn M FilmyerTranslational Neuroscience LLC, Conshohocken, PA, USA.
Lisa M BrunoTranslational Neuroscience LLC, Conshohocken, PA, USA.
Tamara F BiondiDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA.
James J CrowleyDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA.
Gabriel Lázaro-MuñozCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Robert StoweDepartment of Psychiatry, University of British Columbia, Vancouver, Canada; Department of Neurology, University of British Columbia, Vancouver, Canada.
Rita A ShaughnessyTranslational Neuroscience LLC, Conshohocken, PA, USA.
Jonathan S BergDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA.
Jin SzatkiewiczDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA.
Patrick F SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, NC, USA; Department of Psychiatry, University of North Carolina at Chapel Hill, NC, USA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden. Electronic address: pfsulliv@med.unc.edu.
Richard C JosiassenTranslational Neuroscience LLC, Conshohocken, PA, USA. Electronic address: rcjosiassen@gmail.com.
University of North Carolina at Chapel Hill · USBaylor College of Medicine · USGeisinger Health System · USUniversity of British Columbia · CA

Funding

The Genomics of Highly Treatment Resistant SchizophreniaK01MH108894 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FARRELL, MARTILIAS STEPHEN · 2016 to 2019
$567k
Finding single-gene copy number variants in schizophreniaR21MH104831 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH, SZATKIEWICZ, JIN PENG · 2014 to 2015
$418k
NIMH NIH HHS K01 MH108894NIMH NIH HHS R21 MH104831
6 · The paper itself

Abstract

The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disability, developmental delay, facial dysmorphism, microcephaly, ocular disorders, and gastrointestinal abnormalities. There is, however, a lack of detailed longitudinal case studies describing 3q29 deletion syndrome in adults with psychosis. In this case report, we describe the lifetime clinical portrait of a 57-year-old woman with 3q29 deletion syndrome, treatment-resistant psychotic symptoms, multiple medical comorbidities, and a previously unreported co-occurrence of early-onset dementia.

Indexed as

DementiaIntellectual DisabilityPsychotic DisordersAdolescentAdultChildChromosome DeletionDevelopmental DisabilitiesFemaleHumansMiddle Aged3q29 deletion syndromeCopy number variantDementiaGeneticsSchizophreniaTreatment resistant psychosis

Identifiers

PMID32943312
PMCPMC11491492
OpenAlexW3086488182

What OpenQuestion holds

Textmetadata
LicenceTDM
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.