Case SeriesJournal of autism and developmental disorders2025

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

Joshua R Smith, Isaac Baldwin, Seri Lim and 1 others

PMID 38386254

WHAT IT FOUND

All nine patients with Down Syndrome Regressive Disorder showed catatonia.

Staring was universal. Mutism, grimacing, and rigidity appeared in most. Combativeness and excitement were common, suggesting externalizing signs may be more prominent than previously recognized.

Key findings

01Staring was present in all nine cases, while mutism, grimacing, and rigidity were present in seven cases.

02Externalizing symptoms including excitement, verbigeration, negativism, impulsivity, and combativeness were present in six cases.

03The mean Bush Francis Catatonia Rating Scale score was 17.3, indicating moderately severe symptoms.

STILL TO COME

How it was doneWhat they found

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What it does not show

Small sample size of only nine patients. Retrospective design relying on clinical documentation. Selection bias is possible because patients needed a clinical diagnosis of catatonia and a documented BFCRS score to be included. The BFCRS is validated for neurotypical adults, not for neurodiverse populations or children. Telemedicine was used to evaluate two patients, which may affect assessment accuracy. No comparator group was included.

Declared interests

JRS receives funding from Roche, Axial Therapeutics, and the National Institute of Child and Human Development. JL receives funding from Harvard Medical School Dupont Warren Fellowship and Livingston Awards, the Rappaport Foundation, and the Foundation for Prader-Willi Research. He has received equity and consulting fees from Revival Therapeutics, Inc.

The easy way to misread this

Do not assume that the high prevalence of catatonia in this small group applies to all patients with Down Syndrome Regressive Disorder, or that the specific symptom profile found here is universal. The study describes what happened to nine people; it does not establish how common catatonia is in the wider DSRD population.

Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →


The study

Participants
9
Certainty of evidence
Very low

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    Cite

    Joshua R Smith, Isaac Baldwin, Seri Lim, et al. Symptoms of Catatonia Observed in Down Syndrome Regressive Disorder: A Retrospective Analysis. Journal of autism and developmental disorders. 2025.

    Read the original — we summarise, we never replace the paper.