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Observational Study
. 2024 Aug 23;15(9):1109.
doi: 10.3390/genes15091109.

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

Roberta Onesimo  1 , Elisabetta Sforza  2 , Federica Palermo  2 , Valentina Giorgio  1 , Chiara Leoni  1 , Donato Rigante  1   2 , Valentina Trevisan  1 , Cristiana Agazzi  2 , Domenico Limongelli  1 , Francesco Proli  1 , Eliza Maria Kuczynska  1 , Laura Crisponi  3 , Giangiorgio Crisponi  4 , Giuseppe Zampino  1   2
Affiliations
Observational Study

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

Roberta Onesimo et al. Genes (Basel). .

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.

Keywords: CRLF1; dysphagia; genetics; precision medicine; rare disease.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Prevalence variation over time of feeding critical features in our cohort of 14 CS/CISS1 cases.
See this image and copyright information in PMC

References

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