Evidence map›Paper›PMID 38169137›Full record

ArticleAmerican journal of medical genetics. Part A2024

Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.

Jonathan D Santoro, Saba Jafarpour, Mellad M Khoshnood, Natalie K Boyd, Benjamin N Vogel, Lina Nguyen, Laura E Saucier, Rebecca Partridge, Emmanuelle Tiongson, Leigh Ramos-Platt and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
3.3field-weighted citation impact, top 9% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 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. Article
  3. Article
  4. Article
  5. 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

16 authors at 3 institutions in 1 country.

Jonathan D SantoroDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Saba JafarpourDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Mellad M KhoshnoodDepartment of Pediatrics, Los Angeles General Hospital, Los Angeles, California, USA.
Natalie K BoydDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Benjamin N VogelDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Lina NguyenDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Laura E SaucierDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Rebecca PartridgeVirginia Mason Health System, Issaquah, Washington, USA.
Emmanuelle TiongsonDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Leigh Ramos-PlattDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Deepti NageshDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Eugenia HoDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Tena RosserDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Nusrat AhsanDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Wendy G MitchellDivision of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, Los Angeles, California, USA.
Michael S RafiiDepartment of Neurology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
University of Southern California · USChildren's Hospital of Los Angeles · USUniversity of Virginia Health System · US

Funding

Mechanistic investigation of therapies for Down Syndrome Regression DisorderR61HD109748 · NICHD · UNIVERSITY OF COLORADO DENVER · PI ESPINOSA, JOAQUIN M., SANNAR, ELISE M · 2022 to 2023
$1.5M
Non-invasive biometric screening for cerebrovascular disorders in persons with Down syndrome.K23HL155898 · NHLBI · CHILDREN'S HOSPITAL OF LOS ANGELES · PI SANTORO, JONATHAN DOUGLAS · 2021 to 2025
$1.3M
NHLBI NIH HHS K23 HL155898NICHD NIH HHS R61 HD109748
6 · The paper itself

Abstract

Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders. A single-center, retrospective chart review evaluating clinically documented infusion reactions was performed for individuals meeting international consensus criteria for DSRD and having IVIg infusions between 2019 and 2023. Infusion reactions were evaluated for severity and need for alterations in infusion plan. This cohort was compared against an age and sex matched cohort of children with neuroimmunologic conditions who had also received IVIg infusions. In total, 127 individuals with DSRD and 186 individuals with other neuroimmunologic disorders were enrolled. There was no difference in the overall rate of adverse reactions (AEs) between the DSRD and general neuroimmunology cohorts (p = 0.31, 95% CI: 0.80-2.00), but cardiac-related AEs specifically were more common among the DSRD group (p = 0.02, 95% CI: 1.23-17.54). When AEs did occur, there was no difference in frequency of pharmacologic intervention (p = 0.12, 95% CI: 0.34-1.13) or discontinuation of therapy (p = 0.74, 95% CI: 0.06-7.44). There was a higher incidence of lab abnormalities on IVIG among the general neuroimmunology cohort (p = 0.03, 95% CI: 0.24-0.94) compared to the DSRD cohort. Transaminitis was the most common laboratory abnormality in the DSRD group. In a large cohort of individuals with DSRD, there were no significant differences in the safety and tolerability of IVIg compared to a cohort of children and young adults with neuroimmunologic conditions.

Indexed as

Down SyndromeImmunoglobulins, IntravenousChildHumansRetrospective StudiesYoung AdultImmunoglobulins, Intravenousadverse eventsDown syndromeimmunoglobulinIVIgside effectstransaminitis

Identifiers

PMID38169137
PMCPMC13127129
OpenAlexW4390542773

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.