Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome
Abstract
:1. Introduction
2. Methods
2.1. Participants
2.2. Procedure
2.3. Statistical Analysis
3. Results
3.1. Feeding and Swallowing Evolution from the Neonatal Period to the First Year of Life
3.2. Feeding and Swallowing Features beyond the First Year of Life
3.3. Feeding and Swallowing Features during Adulthood
3.4. Other Findings
4. Discussion
5. Conclusions
6. Limits and Future Research
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
CS/CISS | Crisponi/cold-induced sweating syndrome |
I-EAT-10 | Italian version of the Eating Assessment Tool-10 |
I-Pedi-EAT-10 | Italian version of the Pediatric Eating Assessment Tool |
KCPS | Karaduman Chewing Performance Scale |
References
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Participants (n = 14) | |
---|---|
Demographics at the time of our study | |
Age range (years) | 6–44 |
Median age (years), SD age (years) | 18 ± 10.62 |
Gender (Male) | 6 |
Genetics n (%) | |
CRLF1 | 14 (100) |
Signs and symptoms (%) | |
Hyperhidrosis | 14 (100) |
Camptodactyly | 13 (93) |
Chubby cheeks | 13 (93) |
Hyperthermia | 13 (93) |
Anteverted nostrils | 11 (79) |
Scoliosis | 11 (79) |
High arched palate | 9 (64) |
Depressed nasal bridge | 8 (57) |
Micrognathia | 7 (50) |
Hypertonia | 6 (43) |
Key Features | Prevalence (%) | ||
---|---|---|---|
Infancy | Childhood | Adulthood | |
Enteral feeding | 100 | 14 | 0 |
Mild-to-severe drooling | 100 | 86 | 0 |
Severe oral–pharyngeal dysphagia | 78 | 7 | 0 |
Patient ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | Prevalence (%) | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age (y) | 6 | 6 | 9 | 10 | 11 | 11 | 13 | 17 | 19 | 21 | 25 | 30 | 30 | 44 | ||
Gender | F | M | M | M | M | F | F | F | F | F | M | F | M | F | ||
Infancy | Poor suck at birth | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 |
Enteral feeding at birth | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 | |
Contraction of facial muscles | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 | |
Gastrostomy feeds | − | + | − | − | − | − | + | − | − | − | − | − | − | − | 14 | |
Severe drooling | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 | |
Oral–pharyngeal dysphagia | − | − | + | + | + | + | + | − | + | + | + | + | + | + | 78 | |
Hypertonia of neck muscles | − | + | − | − | − | − | − | + | + | + | − | + | − | + | 43 | |
Nasal regurgitation | − | − | − | + | − | − | − | − | − | + | − | − | − | − | 14 | |
Childhood | Impaired mastication | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 |
Preference for soft solid food textures | + | + | + | + | + | + | + | + | + | + | + | + | + | − | 93 | |
Drooling | + | + | + | + | + | + | + | + | + | + | + | + | − | 86 | ||
Poor appetite | + | − | + | + | + | − | + | − | + | − | + | − | + | − | 57 | |
Adulthood | Occasional drooling | na | na | na | na | na | na | na | na | + | + | + | + | + | + | 100 |
Occasional oral–pharyngeal dysphagia | na | na | na | na | na | na | na | na | + | + | − | − | + | + | 67 | |
Gene | CLRF1 | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100 |
Variant | c.676_677insA | c.(697+167_?) del; chr 19 g. (18695989_18740580) del | c.676_677insA | c.676_677insA | c.221T>C; c.676_677insA | c.676_677insA | c.226T>G; c.676_677insA | c.[338 A>T;341 T>C] | c.226T>G | c.23-45dup | c.676_677insA | c.226T>G; c.676_677insA | c.935G>A; c.856-? c.1269+?del | c.226T>G; c.676_677insA | ||
Zygosity | H | CH | H | H | CH | H | CH | H | H | H | H | CH | CH | CH | ||
Exon(s) involved | 4 | 5–9; 1–9 | 4 | 4 | 2; 4 | 4 | 2; 4 | 2 | 2 | 1 | 4 | 2; 4 | 6; 6–9 | 2; 4 |
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© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Onesimo, R.; Sforza, E.; Palermo, F.; Giorgio, V.; Leoni, C.; Rigante, D.; Trevisan, V.; Agazzi, C.; Limongelli, D.; Proli, F.; et al. Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome. Genes 2024, 15, 1109. https://doi.org/10.3390/genes15091109
Onesimo R, Sforza E, Palermo F, Giorgio V, Leoni C, Rigante D, Trevisan V, Agazzi C, Limongelli D, Proli F, et al. Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome. Genes. 2024; 15(9):1109. https://doi.org/10.3390/genes15091109
Chicago/Turabian StyleOnesimo, Roberta, Elisabetta Sforza, Federica Palermo, Valentina Giorgio, Chiara Leoni, Donato Rigante, Valentina Trevisan, Cristiana Agazzi, Domenico Limongelli, Francesco Proli, and et al. 2024. "Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome" Genes 15, no. 9: 1109. https://doi.org/10.3390/genes15091109