{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(5)"],"submitter":["de-Andres-Beltran B"],"pubmed_abstract":["Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66"],"journal":["Children (Basel, Switzerland)"],"pagination":["892"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10216906"],"repository":["biostudies-literature"],"pubmed_title":["Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study."],"pmcid":["PMC10216906"],"pubmed_authors":["Palacios-Cena D","Gueita-Rodriguez J","de-Andres-Beltran B","Rodriguez-Fernandez AL"],"additional_accession":[]},"is_claimable":false,"name":"Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study.","description":"Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h/d ventilatory support. Regarding orthopedic status, 66","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 May","modification":"2025-04-04T19:30:19.79Z","creation":"2025-04-04T19:30:19.79Z"},"accession":"S-EPMC10216906","cross_references":{"pubmed":["37238440"],"doi":["10.3390/children10050892"]}}