Evidence map›Paper›PMID 40740211›Full record

ArticleDementia & neuropsychologia2025

Causes of Down syndrome regression disorder: a scoping review.

Manuelle Maria Pereira Natividade, Adson José Moreira, Lívia Silva Nassif, Bárbara Rodrigues Alvernaz Dos Santos, Marcus Carvalho Borin, Juliana Alvares-Teodoro, Francisco de Assis Acurcio, Augusto Afonso Guerra

Abstract read
In one paragraph

Article in Dementia & neuropsychologia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Introduction to the special issue on Down syndrome.Dementia & neuropsychologia · 2025
    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

8 authors.

Manuelle Maria Pereira NatividadeUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0009-0009-9521-0900
Adson José MoreiraUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0009-0006-9962-1203
Lívia Silva NassifUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0009-0004-8921-8803
Bárbara Rodrigues Alvernaz Dos SantosUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0000-0001-9796-4321
Marcus Carvalho BorinUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0000-0002-0918-6505
Juliana Alvares-TeodoroUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0000-0002-0210-0721
Francisco de Assis AcurcioUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0000-0002-5880-5261
Augusto Afonso GuerraUniversidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.ORCID https://orcid.org/0000-0001-5256-0577

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Down syndrome regression disorder (DSRD) is characterized by an acute or subacute neurocognitive regression that severely impacts the autonomy and quality of life of individuals with Down syndrome (DS). Despite its growing recognition, understanding of the condition remains limited, particularly regarding its etiology and the factors contributing to its development. Objective: The aim of this study was to systematically map the available evidence regarding the potential causes of DSRD and the factors that may contribute to its development. Methods: Following the Joanna Briggs Institute (JBI) methodology for scoping reviews, a comprehensive three-step search strategy was conducted across MEDLINE (PubMed), Embase, Cochrane, and Lilacs. Studies published in any language were considered, with no restrictions on publication date. Results: In total, 14 studies met the eligibility criteria. The findings consistently point to chronic autoimmunity and immune dysregulation as potential causes of DSRD. Additionally, the contribution of genetic variants associated with the type 1 interferon inflammatory response has been suggested. Finally, the role of psychosocial and environmental stressors was highlighted, as these are considered potential triggers that precede the onset of DSRD manifestations. Conclusion: The hypothesis that DSRD is a multifactorial condition seems reasonable. Nevertheless, the immune system may play a central role in its development, as the identified causes converge toward a neuroinflammatory process. Furthermore, the contribution of genetic variants associated with the inflammatory response and the role of psychosocial stressors as triggers for DSRD also appear plausible.

Indexed as

AutoimmunityDown SyndromeImmune SystemNeurocognitive DisordersStress, Psychological

Identifiers

PMID40740211
PMCPMC12306486

What OpenQuestion holds

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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.