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Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11431494 | PMC |
| http://dx.doi.org/10.3390/genes15091109 | DOI Listing |
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Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.
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Article Synopsis
- - Feeding difficulties are a common issue for patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1), observed from birth to adulthood in a study of 14 patients in Rome.
- - All participants required enteral feeding at birth, with solid food introduction delayed for 43% until after 18 months, and mealtime challenges included fatigue while chewing, food spillage, and drooling.
- - The findings enhance the understanding of CS/CISS1, aiding in better management and prevention of complications in patients with this ultra-rare disease.
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