Evidence map›Paper›PMID 31529709›Full record

Observational studyDevelopmental medicine and child neurology2020

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia.

Tjitske F Lawerman, Rick Brandsma, Natalia M Maurits, Octavio Martinez-Manzanera, Corien C Verschuuren-Bemelmans, Roelineke J Lunsing, Oebo F Brouwer, Hubertus Ph Kremer, Deborah A Sival

Open access · hybridAbstract readComparative StudyObservational Study
In one paragraph

Observational study in Developmental medicine and child neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
3.5field-weighted citation impact, top 8% 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

7 citing papers in PubMed, 17 citations in OpenAlex.

  1. Gluten Ataxia in Children and Adolescents.Cerebellum (London, England) · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Tjitske F LawermanDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Rick BrandsmaDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Natalia M MauritsDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Octavio Martinez-ManzaneraDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Corien C Verschuuren-BemelmansDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Roelineke J LunsingDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Oebo F BrouwerDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Hubertus Ph KremerDepartment of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Deborah A SivalDepartment of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.ORCID 0000-0001-8719-3463
University Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimsTo investigate the accuracy of phenotypic early-onset ataxia (EOA) recognition among developmental conditions, including developmental coordination disorder (DCD) and hypotonia of central nervous system origin, and the effect of scientifically validated EOA features on changing phenotypic consensus.

methodWe included 32 children (4-17y) diagnosed with EOA (n=11), DCD (n=10), and central hypotonia (n=11). Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). We determined: (1) phenotypic interobserver agreement and phenotypic homogeneity (percentage of phenotypes with full consensus by all three observers according to the underlying diagnosis); (2) SARA (sub)score profiles; and (3) the effect of three scientifically validated EOA features on phenotypic consensus.

resultsPhenotypic homogeneity occurred in 8 out of 11, 2 out of 10, and 1 out of 11 patients with EOA, DCD, and central hypotonia respectively. Homogeneous phenotypic discrimination of EOA from DCD and central hypotonia occurred in 16 out of 21 and 22 out of 22 patients respectively. Inhomogeneously discriminated EOA and DCD phenotypes (5 out of 21) revealed overlapping SARA scores with different SARA subscore profiles. After phenotypic reassessment with scientifically validated EOA features, phenotypic homogeneity changed from 16 to 18 patients.

interpretationIn contrast to complete distinction between EOA and central hypotonia, the paediatric motor phenotype did not reliably distinguish between EOA and DCD. Reassessment with scientifically validated EOA features could contribute to a higher phenotypic consensus. Early-onset ataxia (EOA) and central hypotonia motor phenotypes were reliably distinguished. EOA and developmental coordination disorder (DCD) motor phenotypes were not reliably distinguished. The EOA and DCD phenotypes have different profiles of the Scale for Assessment and Rating of Ataxia.

Indexed as

AdolescentAge of OnsetAtaxiaChildChild, PreschoolDiagnosis, DifferentialFemaleHumansMaleMotor Skills DisordersMuscle HypotoniaPhenotype

Identifiers

PMID31529709
PMCPMC6916203
OpenAlexW2973566472

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.