Explanipedia

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study Open

Marika Pane, Giulia Stanca, Giorgia Coratti, Adele D’ Amico, Valeria Sansone , et al. · 2024

The aim of this study was to assess the need for tube feeding in a cohort of treated infants with type I SMA and to identify predictive factors. All patients were classified at baseline, when treatment started, and at follow-up according t…

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

Roberta Onesimo, Elisabetta Sforza, Federica Palermo, Valentina Giorgio, Chiara Leoni , et al. · 2024

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 observatio…

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome Open

Francesco Proli, Elisabetta Sforza, Andrea Faragalli, Valentina Giorgio, Chiara Leoni , et al. · 2024

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies Open

Domenico M. Romeo, Virginia Pironi, Chiara Velli, Elisabetta Sforza, Donato Rigante , et al. · 2024

Achondroplasia (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. …

Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes Open

Roberta Onesimo, Elisabetta Sforza, Elizabeth Katherine Anna Triumbari, Francesco Proli, Chiara Leoni , et al. · 2023

Background 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 …

How pain affect real life of children and adults with achondroplasia: A systematic review Open

Roberta Onesimo, Elisabetta Sforza, Maria Francesca Bedeschi, Chiara Leoni, Valentina Giorgio , et al. · 2023

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome Open

Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio , et al. · 2023

CTNNB1 syndrome is an autosomal-dominant neurodevelopmental disorder featuring developmental delay; intellectual disability; behavioral disturbances; movement disorders; visual defects; and subtle facial features caused by de novo loss-of-…

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review Open

Clelia Cipolla, Linda Sessa, Giulia Rotunno, Giorgio Sodero, Francesco Proli , et al. · 2023

Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral feat…

The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome Open

Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Germana Viscogliosi, Eliza Maria Kuczynska , et al. · 2023

Feeding, eating and deglutition difficulties are key concerns in patients with cardiofaciocutaneous syndrome (CFCS). This study intends to quantify the development of feeding skills from birth to adulthood in patients with CFCS. Twenty-sev…

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome Open

Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska , et al. · 2023

The Impact of Blenderized Tube Feeding on Gastrointestinal Symptoms, a Scoping Review Open

Elisabetta Sforza, Domenico Limongelli, Valentina Giorgio, Gaia Margiotta, Francesco Proli , et al. · 2023

Severe gastrointestinal symptoms are one of the main reasons for switching from conventional artificial tube feeding to blenderized tube feeding (BTF). This study aimed to describe and quantify the impact of BTF on gastrointestinal symptom…

Cross‐cultural adaptation and validation of the Italian version of the Montreal Children's Hospital Feeding Scale in a special healthcare needs population Open

Elisabetta Sforza, Roberta Onesimo, Elizabeth Katherine Anna Triumbari, Chiara Leoni, Valentina Giorgio , et al. · 2023

Background The Montreal Children's Hospital Feeding Scale (MCH‐FS) allows paediatricians and other health care professionals to identify feeding difficulties among children. Aim To translate and adapt the MCH‐FS into Italian, and to evalua…

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review Open

Elisabetta Sforza, Gaia Margiotta, Valentina Giorgio, Domenico Limongelli, Francesco Proli , et al. · 2023

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (…

Table of Contents, Volume 190, Number 4, December 2022 Open

Benjamin D. Solomon, Anne Slavo�, John M. Carey, John M. Opitz, E. P. Cumberbatch , et al. · 2022

MEDICAL GENETICS is published in 4 issues per year.Ins� tu� onal subscrip� on prices for 2022 are: Print & Online: US$29,231 (US), US$29,231 (Rest of World), €18,860 (Europe), £14,921 (UK).Prices are exclusive of tax.Asia-Paci c GST,

Drooling outcome measures in paediatric disability: a systematic review Open

Elisabetta Sforza, Roberta Onesimo, Chiara Leoni, Valentina Giorgio, Francesco Proli , et al. · 2022

Drooling, or sialorrhea, is a common condition in patients with cerebral palsy, rare diseases, and neurodevelopmental disorders. The goal of this review was to identify the different properties of sialorrhea outcome measures in children. F…

Eliza Maria Kuczynska YOU? Author Swipe