Evidence map›Paper›PMID 41379326›Full record

Observational studyNeurogenetics2025

Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of life.

Stefania Della Vecchia, Alessandro Simonati, Maria Laura Manca, Nicola Pietrafusa, Marina Trivisano, Costanza Calabrese, Nicola Specchio, Filippo Maria Santorelli, A-NCL-ETS

Abstract readObservational Study
PubMed Publisher
In one paragraph

Observational study in Neurogenetics, 2025. 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

9 authors.

Stefania Della VecchiaDepartment of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Viale Pieraccini, 6, Florence, Italy.
Alessandro SimonatiDepartment of Surgery, Dentistry, Pediatrics and Gynecology University of Verona, Verona, 37134, Italy.
Maria Laura MancaDepartment of Clinical and Experimental Medicine and Department of Mathematics, University of Pisa and University Hospital of Pisa, Pisa, Italy.
Nicola PietrafusaNeurology, Epilepsy and Movement Disorders Unit, IRCCS, Full Member of European Reference Network EpiCARE, Bambino Gesù Children's Hospital, Rome, Italy.
Marina TrivisanoNeurology, Epilepsy and Movement Disorders Unit, IRCCS, Full Member of European Reference Network EpiCARE, Bambino Gesù Children's Hospital, Rome, Italy.
Costanza CalabreseNeurology, Epilepsy and Movement Disorders Unit, IRCCS, Full Member of European Reference Network EpiCARE, Bambino Gesù Children's Hospital, Rome, Italy.
Nicola SpecchioNeurology, Epilepsy and Movement Disorders Unit, IRCCS, Full Member of European Reference Network EpiCARE, Bambino Gesù Children's Hospital, Rome, Italy.
Filippo Maria SantorelliMolecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, 56128, Calambrone, Italy. filippo3364@gmail.com.
A-NCL-ETS

Funding

Ministero della Salute Ricerca Corrente 2024
6 · The paper itself

Abstract

Neuronal ceroid lipofuscinoses (NCLs) are rare, inherited lysosomal storage disorders (LSDs) of the brain and retina. Gastrointestinal (GI) manifestations are reported in clinical practice but remain largely underexplored. Lysosomal dysfunction affects both the central and the peripheral nervous systems, including the enteric nervous system (ENS) where accumulation of storage material and neuronal loss may directly contribute to GI dysmotility. These insights, combined with emerging gene therapies targeting both brain and ENS pathology, underscore the need for validated GI endpoints in NCL research. We present a cross-sectional study assessing prevalence, progression, and clinical impact of GI symptoms in an Italian NCL cohort. Using caregiver-reported data and standardized tools - including the PedsQL™ GI Symptoms Scales and the Hamburg rating Scale - we evaluated GI burden and its correlation with neurological severity. Over 60% of caregivers reported GI disturbances, with constipation as the most prevalent and earliest onset symptom. Nutritional issues, such as dysphagia, were common but tended to appear later. GI symptoms correlated well with decline in quality of life, especially for Trouble Swallowing (p

Indexed as

Gastrointestinal DiseasesNeuronal Ceroid-LipofuscinosesQuality of LifeAdolescentAdultChildChild, PreschoolCross-Sectional StudiesDisease ProgressionFemaleHumansInfantItalyMaleMiddle AgedPrevalenceNeuronal ceroid lipofuscinosisPaediatric neurodegenerative disordersPedsQL™ gastrointestinal symptoms scalesQuality of life

Identifiers

PMID41379326

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.