Publications by authors named "E Kuczynska"
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.
Article Synopsis
- The study aimed to evaluate the need for tube feeding in infants with type I Spinal Muscular Atrophy (SMA) and identify predictive factors for it.
- Out of 75 infants assessed, by the last follow-up, only 34 needed no tube feeding, while 32 required tube feeding and could not be fed orally.
- Key findings indicate that the necessity for tube feeding is not common in treated infants and can be predicted by their initial level of feeding involvement and CHOP INTEND scores, rather than SMA type or genetic factors.
Unlabelled: Our study aims to define resting energy expenditure (REE) and describe the main nutritional patterns in a single-center cohort of children with Smith-Magenis syndrome (SMS). REE was calculated using indirect calorimetry. Patients' metabolic status was assessed by comparing measured REE (mREE) with predictive REE (pREE).
View Article and Find Full Text PDFAchondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories.
View Article and Find Full Text PDFBackground: The Pediatric Eating Assessment Tool (PEDI-EAT-10) is a reliable and valid tool for rapid identification of dysphagia in patients aged 18 months to 18 years.
Aims: To translate and adapt the PEDI-EAT-10 into the Italian language and evaluate its validity and reliability.
Methods & Procedures: The translation and cross-cultural adaptation of the tool consisted of five stages: initial translation, synthesis of the translations, back translation, expert committee evaluation and test of the prefinal version.