Evidence map›Paper›PMID 39336700›Full record

Observational studyGenes2024

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Roberta Onesimo, Elisabetta Sforza, Federica Palermo, Valentina Giorgio, Chiara Leoni, Donato Rigante, Valentina Trevisan, Cristiana Agazzi, Domenico Limongelli, Francesco Proli and 4 more

Abstract readObservational Study
In one paragraph

Observational study in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Observational
  5. 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

14 authors.

Roberta OnesimoCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-3128-6657
Elisabetta SforzaDepartment of Life Sciences and Public Health, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, 00168 Rome, Italy.ORCID 0000-0002-5646-7406
Federica PalermoDepartment of Life Sciences and Public Health, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, 00168 Rome, Italy.
Valentina GiorgioCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-7448-8710
Chiara LeoniCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4089-637X
Donato RiganteCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0001-7032-7779
Valentina TrevisanCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0002-9566-4971
Cristiana AgazziDepartment of Life Sciences and Public Health, Faculty of Medicine and Surgery, Catholic University of Sacred Heart, 00168 Rome, Italy.
Domenico LimongelliCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Francesco ProliCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.ORCID 0000-0003-2426-3342
Eliza Maria KuczynskaCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Laura CrisponiInstitute for Genetic and Biomedical Research (IRGB), The National Research Council (CNR), Monserrato, 09042 Cagliari, Italy.ORCID 0000-0001-9128-8537
Giangiorgio CrisponiIndependent Researcher, 09042 Cagliari, Italy.
Giuseppe ZampinoCentre for Rare Diseases and Transition, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.

Funding

National Recovery and Resilience Plan PNRR-MR1-2022-12376346
6 · The paper itself

Abstract

Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). The aim of our study was to describe their prevalence and evolution from birth to adult age. We performed an observational study at the Department of Life Sciences and Public Health, Rome. Fourteen patients were included in this study (six M; mean age: 18 years; SD: 10.62 years; median age: 15 years; age range: 6-44 years); six were adults (43%). Data on oral motor abilities from birth were collected. Meal duration, presence of swallowing reflex, dysphagia symptoms, difficulty chewing, and drooling management were assessed. At birth, all patients needed enteral feeding. Introduction of solid food was postponed beyond the age of 18 months in 43% of patients. During childhood and adolescence, mealtime was characterized by increased duration (43%) accompanied by fatigue during chewing (43%), food spillage from the nasal cavities (21%), sialorrhea (86%), and poor/reduced appetite (57%). A mature rotatory chewing skill was never achieved. This report expands the phenotype description of CS/CISS1 and also improves the overall management and prevention of complications in this ultra-rare disease.

Indexed as

HyperhidrosisAdolescentAdultChildDeath, SuddenFaciesFemaleHand Deformities, CongenitalHumansMaleMasticationSialorrheaTrismusYoung AdultCRLF1dysphagiageneticsprecision medicinerare disease

Identifiers

PMID39336700
PMCPMC11431494

What OpenQuestion holds

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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.