Evidence map›Paper›PMID 38386254›Full record

ArticleJournal of autism and developmental disorders2025

Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis.

Joshua R Smith, Isaac Baldwin, Seri Lim, James Luccarelli

Open access · greenAbstract read
In one paragraph

Article in Journal of autism and developmental disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 2 pooled it
5.0field-weighted citation impact, top 4% 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, 2 syntheses or guidelines pooled it, 13 citations in OpenAlex.

  1. Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
  2. SYNGAP-1 Mutation And Catatonia: A Case Series and Systematic Review.Journal of child and adolescent psychopharmacology · 2024
    Pooled it
  3. Article
  4. Journal of child and adolescent psychopharmacology · 2026
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. 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

4 authors at 3 institutions in 1 country.

Joshua R SmithDivision of Child and Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center at Village of Vanderbilt, 1500 21St Avenue South, Suite 2200, Nashville, TN, 37212, USA. Joshua.R.Smith@vumc.org.ORCID http://orcid.org/0000-0001-7008-165X
Isaac BaldwinDivision of General Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center, 1601 23rd Ave South, Nashville, TN, 37212, USA.
Seri LimDivision of Child and Adolescent Psychiatry, Department of Psychiatry and Behavioral Sciences, Vanderbilt University Medical Center at Village of Vanderbilt, 1500 21St Avenue South, Suite 2200, Nashville, TN, 37212, USA.
James LuccarelliDivision of Child and Adolescent Psychiatry, Department of Psychiatry, Massachusetts General Hospital, 55 Fruit Street, Boston, MA, 02114, USA.
Vanderbilt University Medical Center · USHarvard University · USVanderbilt University · US

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Jeffrey L Neul · 2020 to 2026
$10.3M
Translational Neuroscience Training for CliniciansT32MH112485 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI BUCKNER, RANDY L, ROFFMAN, JOSHUA LAWRENCE · 2018 to 2022
$1.7M
National Institute of Child Health and Human Development 1P50HD103537NICHD NIH HHS P50 HD103537NIMH NIH HHS T32 MH112485NIMH NIH HHS T32MH112485
6 · The paper itself

Abstract

purposeDown Syndrome Regressive Disorder (DSRD) is a neuropsychiatric condition associated with severe symptomology and a negative impact on quality of life. DSRD frequently presents with catatonic symptoms. However, few studies have reported the specific catatonic symptoms that occur in DSRD.

methodsWe conducted a retrospective analysis of medical records in a large health system in the southern United States to identify patients with diagnoses of DS with catatonic symptoms who presented for clinical care between 1/1/2018 and 12/1/2023. Patients were included in the study if they had a diagnosis of DSRD or met the criteria for DSRD using consensus guidelines on retrospective chart review, and catatonia as confirmed in clinical documentation and had a full Bush Francis Catatonia Rating Scale (BFCRS) documented at the time of initial catatonia diagnosis.

resultsA total of nine patients who met the criteria for DSRD and catatonia using the BFCRS were identified. The average age of patients at the time of DSRD diagnosis was 21.1 years (SD = 13.87). The mean BFCRS score on initial evaluation was 17.3 (SD = 7.0) and the mean number of positive catatonia signs was 11.1 (SD = 1.5). Staring was present in all cases (n = 9, 100%), followed by mutism, grimacing, and rigidity (n = 7, 77.9%).

conclusionsIn a sample of nine patients with DSRD, all patients were diagnosed with catatonia. Catatonia is severe if undiagnosed and untreated. Future research is needed to assess specific symptoms of catatonia in DSRD, and longitudinal outcomes to assess optimal means of treatment.

Indexed as

CatatoniaDown SyndromeAdolescentAdultChildFemaleHumansMaleRetrospective StudiesYoung AdultCatatoniaDown syndromeDown syndrome regressive disorderNeurodevelopmentalRegression

Identifiers

PMID38386254
PMCPMC11339237
OpenAlexW4392057909

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.