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

Onesimo, Roberta; Sforza, Elisabetta; Giorgio, Valentina; Viscogliosi, Germana; Kuczynska, Eliza Maria; Margiotta, Gaia; L, Perri; Limongelli, Domenico; Proli, Francesco; Rigante, Donato; Cerchiari, Antonella; Tartaglia, Marco; Leoni, Chiara; Zampino, Giuseppe

doi:10.3390/genes14071338

Cited by 3 publications

(1 citation statement)

References 47 publications

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“…Feeding problems are very frequently reported, almost in all CFC patients, and there does not seem to be any genotype-phenotype correlation [41,42]. These problems are usually reported in the neonatal period and manifest as poor suck, swallow dysfunction, vomiting, gastroesophageal reflux, aspiration, and oral aversion.…”

Section: Gastrointestinal and Growth Findingsmentioning

confidence: 99%

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

Scorrano,

David,

Calì

et al. 2023

Genes

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Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging. Neurological involvement in CFC is more severe than in other RASopathies. Phenotypic variability in CFC patients is related to the specific gene affected, without a recognized genotype–phenotype correlation for distinct pathogenic variants. Currently, there is no specific treatment for CFC syndrome. Encouraging zebrafish model system studies suggested that, in the future, MEK inhibitors could be a suitable treatment of progressive phenotypes of CFC in children. A multidisciplinary care is necessary for appropriate medical management.

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Section: Gastrointestinal and Growth Findingsmentioning

confidence: 99%

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

Scorrano,

David,

Calì

et al. 2023

Genes

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Autism spectrum disorder profiles in RASopathies: A systematic review

Debbaut,

Steyaert,

El Bakkali

2024

Molec Gen & Gen Med

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BackgroundRASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually.MethodsWe conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD). We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers.ResultsWe included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio‐facio‐cutaneous syndrome (CFC). Individuals with NF1, NS, CS, and CFC on average have higher ASD symptomatology than healthy controls and unaffected siblings, though less than people with iASD. There is insufficient evidence for a distinct ASD phenotype in RASopathies compared to iASD or when RASopathies are compared with each other. We identified several potentially modifying factors of ASD symptoms in RASopathies.ConclusionsOur systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.

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

Onesimo,

Sforza,

Palermo

et al. 2024

Genes

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

Cited by 3 publications

References 47 publications

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

Autism spectrum disorder profiles in RASopathies: A systematic review

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

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