Evidence map›Paper›PMID 40665551›Full record

ArticleDevelopmental medicine and child neurology2026

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.

Alice Kuhn, Maren Hackenberg, Anna-Lena Klauser, Antonia Herrmann, Julia Matilainen, Simone Mayer, Saskia Frölich, Ingeborg Krägeloh-Mann, Samuel Groeschel, Wibke G Janzarik

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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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Alice KuhnDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0009-0003-7553-7216
Maren HackenbergInstitute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.ORCID 0000-0003-4403-634X
Anna-Lena KlauserDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Antonia HerrmannDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Julia MatilainenGerman PCH Patient Network (PCH-Familie e.V.), Böblingen, Germany.
Simone MayerHertie Institute for Clinical Brain Research, Medical Faculty, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-6381-2474
Saskia FrölichGerman PCH Patient Network (PCH-Familie e.V.), Böblingen, Germany.
Ingeborg Krägeloh-MannDepartment of Child Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.ORCID 0000-0003-4599-1373
Samuel GroeschelDepartment of Child Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.ORCID 0000-0002-2706-7163
Wibke G JanzarikDepartment of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-3651-1385

Funding

Chan Zuckerberg Initiative 2022-316728
6 · The paper itself

Abstract

aimTo calculate growth charts for pontocerebellar hypoplasia (PCH) type 2A (PCH2A) and compare them to German reference charts, especially with regard to nutritional aspects.

methodData were gathered from a cohort of patients with genetically confirmed PCH2A, who were predominantly recruited through the German PCH patient network (65 patients [33 female, 32 male] at a mean age of 8 years 7 months). We collected data retrospectively using a parent questionnaire, and from medical records (December 2020-September 2022). Disease-specific growth charts were prepared from predominantly longitudinal data using the gamlss package implemented in R. Sex-disaggregated growth charts for PCH2A were compared to German reference data from the Kinder- und Jugendgesundheitssurvey (German Health Interview and Examination Survey for Children and Adolescents).

resultsThe height and weight of participants with PCH2A were within the reference range at birth. Mean height was significantly lower at 6 months of age, weight at 3 months, and body mass index at 4 months. These deviations were also mostly significant later on. Head circumference in individuals with PCH2A was significantly below average at birth; all participants showed severe and progressive microcephaly in the further course. Caloric intake was within or above reference values.

interpretationParticipants with PCH2A exhibited progressive microcephaly and frequently failed to thrive. Disease-specific growth charts are a helpful tool to monitor those with PCH2A.

Indexed as

Body HeightBody WeightGrowth ChartsNutritional StatusOlivopontocerebellar AtrophiesAdolescentCerebellar DiseasesChildChild, PreschoolFemaleGermanyHumansInfantMaleMicrocephalyRetrospective Studies

Identifiers

PMID40665551
PMCPMC12683303

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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.