Evidence map›Paper›PMID 42293324›Full record

ArticleBrain communications2026

Immunosuppression in down syndrome regression disorder: a prospective observational cohort study.

Jonathan D Santoro, Lilia Kazerooni, Maeve C Lucas, Mariam M Yousuf, Samuel T Otey, Samuel Bouchard, Kevin C Frost, Lina Nguyen, Nidhiben A Anadani, Asef Mahmud and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

21 authors.

Jonathan D SantoroDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.ORCID https://orcid.org/0000-0002-8350-8234
Lilia KazerooniDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Maeve C LucasDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Mariam M YousufDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Samuel T OteyDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Samuel BouchardDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Kevin C FrostDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Lina NguyenDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Nidhiben A AnadaniDepartment of Neurology, University of Oklahoma Medical Center, Oklahoma City, OK 73104, USA.
Asef MahmudAdvent Health, Orlando, FL 32803, USA.
Melanie A ManningDepartment of Anatomic and Clinical Pathology, Stanford University School of Medicine, Palo Alto, CA 94305, USA.
Angela L RachubinskiLinda Crnic Institute for Down Syndrome, Anschutz Medical Campus at the University of Colorado, Aurora, CO 80045, USA.
Ryan M KammeyerDepartment of Neurology, Anschutz Medical Campus at the University of Colorado, Aurora, CO 80045, USA.
Lina PatelLinda Crnic Institute for Down Syndrome, Anschutz Medical Campus at the University of Colorado, Aurora, CO 80045, USA.
Lindsey E A KosterAmsterdam University Medical Center and Heeren Loo Care Group, Amsterdam 1105 AZ, Netherlands.
Agnies M van EeghenAmsterdam University Medical Center and Heeren Loo Care Group, Amsterdam 1105 AZ, Netherlands.
Noemi A SpinazziDepartment of Pediatrics, Specialized Children's Hospital, New Brunswick, NJ 08901, USA.
Catherine FranklinMater Research Institute, The University of Queensland, Brisbane 4101, Australia.
Eileen A QuinnDepartment of Pediatrics, University of Toledo, Toledo, OH 43606, USA.
Joaquin M EspinosaLinda Crnic Institute for Down Syndrome, Anschutz Medical Campus at the University of Colorado, Aurora, CO 80045, USA.ORCID https://orcid.org/0000-0001-9048-1941
Michael S RafiiAlzheimer's Therapeutic Research Institute, University of Southern California, San Diego, CA 92121, USA.

Funding

Mechanistic investigation of therapies for Down Syndrome Regression DisorderR33HD109748 · NICHD · UNIVERSITY OF COLORADO DENVER · PI Joaquin M. Espinosa · 2024 to 2026
$3.8M
NICHD NIH HHS R33 HD109748
6 · The paper itself

Abstract

Down syndrome regression disorder is a severe neuropsychiatric condition for which intravenous immunoglobulin offers partial benefit in many cases. The efficacy of second-line immunosuppressive therapies in those with partial responses to intravenous immunoglobulin (IVIg) remains unclear. This study sought to evaluate the comparative efficacy of B-cell depletion, Janus kinase inhibition, and mycophenolate mofetil as second-line immunosuppressive therapies in individuals with Down syndrome regression disorder. This multicenter, prospective observational cohort study included 126 individuals with Down syndrome regression disorder. Participants were aged 10-30 years and had demonstrated >50% improvement following IVIg on either the Bush-Francis Catatonia Rating Scale or the Neuropsychiatric Inventory Questionnaire, followed by second-line immunosuppression with one of three agents. Participants received B-cell depletion (rituximab or biosimilar;

Indexed as

down syndromeJanus kinasemycophenolate mofetilregressionrituximab

Identifiers

PMID42293324
PMCPMC13253568

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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.