Evidence map›Paper›PMID 40281660›Full record

ArticleMovement disorders clinical practice2025

Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.

Jana Domínguez-Carral, Carola Reinhard, Luca Soliani, Laura Cif, Juan Darío Ortigoza-Escobar

Abstract read
In one paragraph

Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

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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

5 authors.

Jana Domínguez-CarralEpilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.ORCID https://orcid.org/0000-0002-7197-7391
Carola ReinhardInstitute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
Luca SolianiEuropean Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.
Laura CifDépartement de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.ORCID https://orcid.org/0000-0003-4920-4234
Juan Darío Ortigoza-EscobarEuropean Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.ORCID https://orcid.org/0000-0002-6320-2641

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGNAO1-related disorders (GNAO1-RD) encompass developmental delay, epilepsy and movement disorders, including dyskinetic crises.

objectivesTo explore the characteristics of dyskinetic crises in GNAO1-RD, their impact and the challenges parents face.

methodsA cross-sectional EU survey of 26 parents of children with GNAO1-RD collected demographic, clinical, and management-related data.

resultsDyskinetic crises were experienced by 80% of children. They began at a mean age of 4.17 ± 2.61 years and varied widely in frequency and duration, with triggers including infections and emotions. Dyskinetic crises significantly impacted quality of life (QoL), motor function, and emotional well-being. Medications were variably effective, and 10 children underwent deep brain stimulation with mixed outcomes. Parents reported challenges in managing crises and accessing support services, with financial burdens.

conclusionsDyskinetic crises in GNAO1-RD significantly impact QoL and present complex management challenges. Variability in outcomes underscores the need for optimized treatment protocols, better coordination, and accessible resources for affected families.

Indexed as

CaregiversDyskinesiasGTP-Binding Protein alpha Subunits, Gi-GoParentsAdolescentAdultChildChild, PreschoolCross-Sectional StudiesFemaleHumansMaleQuality of LifeSurveys and QuestionnairesGNAO1 protein, humanGTP-Binding Protein alpha Subunits, Gi-Godyskinetic crisisGNAO1

Identifiers

PMID40281660
PMCPMC12528955

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.