Evidence map›Paper›PMID 41689302›Full record

ArticleDevelopmental medicine and child neurology2026

Consensus-based follow-up and treatment registry for GNAO1-associated disorder.

Larissa R Heideman, Nicole I Wolf, Moritz Thiel, Jolanda H Schieving, Chris De Kruiff, Suzanne van den Bos, Eva Van Heeringen-Broekhuizen, J Jasper Deuring, Annemieke I Buizer, Laura A Van De Pol

Abstract read
In one paragraph

Article in Developmental medicine and child neurology, 2026. 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. Article
  2. 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

10 authors.

Larissa R HeidemanAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Child Neurology, Amsterdam, Netherlands.ORCID 0009-0001-6050-3748
Nicole I WolfAmsterdam Leukodystrophy Center, Department of Child Neurology, and Amsterdam Neuroscience, Molecular & Genetic Mechanisms, Amsterdam University Medical Center, Vrije Universiteit, Amsterdam, Netherlands.ORCID 0000-0003-1721-0728
Moritz ThielFaculty of Medicine and Pediatrics, University Hospital Cologne, Cologne, Germany.
Jolanda H SchievingDepartment of Pediatric Neurology, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, Netherlands.
Chris De KruiffEmma Children's Hospital, Amsterdam UMC, Amsterdam, Netherlands.
Suzanne van den BosChild Neurology, Dutch Epilepsy Institutions Foundation, Heemstede, Netherlands.
Eva Van Heeringen-BroekhuizenStichting GNAO1 NL, Leiden, Netherlands.
J Jasper DeuringStichting GNAO1 NL, Leiden, Netherlands.
Annemieke I BuizerAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Rehabilitation Medicine, Amsterdam, Netherlands.ORCID 0000-0001-5662-2843
Laura A Van De PolAmsterdam UMC, Vrije Universiteit Amsterdam, Department of Child Neurology, Amsterdam, Netherlands.ORCID 0000-0002-2086-010X

Funding

ForWishdom Foundation FwF/2023/2301
6 · The paper itself

Abstract

aimTo establish consensus-based recommendations on relevant domains of functioning and assessment instruments for an GNAO1-associated disorder follow-up and treatment registry.

methodThis was a mixed-methods study consisting of a systematic literature search, a survey, and a real-time Delphi procedure to achieve consensus on domains and instruments. A panel of experts, including health care professionals and individuals with lived experience, was involved in the survey and Delphi procedure. The International Classification of Functioning, Disability and Health (ICF) was used as a framework for the Delphi query.

resultsThe Delphi procedure consisted of 67 statements, including 19 on domains and 48 on instruments, identified from the survey and systematic search. The international panel consisted of 27 health care professionals and 10 parents. The panel recommended 17 ICF domains and 26 assessment instruments, mainly in the 'Body Structures & Functions' and 'Activities & Participation' components.

interpretationUsing consensus-based ICF domains and assessment instruments for a GNAO1 registry is a major step towards harmonization of future international registries, which will facilitate natural history studies and clinical trials.

Indexed as

ConsensusRegistriesChildDelphi TechniqueDisability EvaluationFollow-Up StudiesHumans

Identifiers

PMID41689302
PMCPMC13436703

What OpenQuestion holds

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LicenceCC BY
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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.