{"doi":"10.20517/rdodj.2023.64","title":"Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review","abstract":"<jats:p>This study investigates the respiratory abnormalities in Dravet Syndrome (DS) through a detailed case report and a narrative literature review. We report the case of a 4-year-old girl, harboring a de novo SCN1A  mutation, who exhibited recurrent hypoxemic respiratory failure during febrile infections, not constantly associated with seizures or status epilepticus. In addition, a comprehensive review, including 21 cases, highlights the multifaceted nature of respiratory complications in DS. Notably, severe episodes could occur during common respiratory febrile infections, suggesting an association between DS and increased respiratory risk during febrile illnesses. In fact, the severity and persistence of hypoxemia, even during mechanical ventilation, suggest potential subacute respiratory impairment following seizures and/or infections. The proposed hypothesis of autonomic dysregulation could provide a framework for understanding the intricate relationship between neurological, cardiac, and respiratory functions in DS. This study emphasizes the need for tailored clinical management during febrile illnesses, considering the potential for apnea-related arrhythmias and challenging-to-treat hypoxemia. Further research, including longitudinal studies and advanced physiological monitoring, is crucial for refining our understanding and informing targeted interventions for respiratory abnormalities in DS.</jats:p>","journal":"Rare Disease and Orphan Drugs Journal","year":2024,"id":641508,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1668025,"name":"Caterina Ancora","orcid":null,"position":1,"is_corresponding":false},{"id":1668026,"name":"Francesco Brunello","orcid":null,"position":2,"is_corresponding":false},{"id":1668028,"name":"Chiara Paolin","orcid":null,"position":3,"is_corresponding":false},{"id":1668030,"name":"Elena Cavaliere","orcid":null,"position":4,"is_corresponding":false},{"id":1156707,"name":"Silvia Carraro","orcid":"0000-0003-2284-1225","position":5,"is_corresponding":false},{"id":1668031,"name":"Ivona Poskurica","orcid":null,"position":6,"is_corresponding":false},{"id":1668033,"name":"Veronica Pegoraro","orcid":null,"position":7,"is_corresponding":false},{"id":1018733,"name":"Paola Cogo","orcid":"0000-0002-6235-140X","position":8,"is_corresponding":false},{"id":1668034,"name":"Claudia Maria Bonardi","orcid":null,"position":9,"is_corresponding":false},{"id":1668035,"name":"Maria Federica Pelizza","orcid":null,"position":10,"is_corresponding":false},{"id":1668036,"name":"Jacopo Norberto Pin","orcid":null,"position":11,"is_corresponding":false},{"id":628362,"name":"Stefano Sartori","orcid":"0000-0002-0012-6848","position":12,"is_corresponding":false},{"id":1668037,"name":"Irene Toldo","orcid":null,"position":13,"is_corresponding":false},{"id":1668024,"name":"Jacopo Favaro","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Respiratory abnormalities in Dravet syndrome: insights from a case report and literature review","abstract":"This study investigates the respiratory abnormalities in Dravet Syndrome (DS) through a detailed case report and a narrative literature review. We report the case of a 4-year-old girl, harboring a de novo SCN1A mutation, who exhibited recurrent hypoxemic respiratory failure during febrile infections, not constantly associated with seizures or status epilepticus. In addition, a comprehensive review, including 21 cases, highlights the multifaceted nature of respiratory complications in DS. Notably, severe episodes could occur during common respiratory febrile infections, suggesting an association between DS and increased respiratory risk during febrile illnesses. In fact, the severity and persistence of hypoxemia, even during mechanical ventilation, suggest potential subacute respiratory impairment following seizures and/or infections. The proposed hypothesis of autonomic dysregulation could provide a framework for understanding the intricate relationship between neurological, cardiac, and respiratory functions in DS. This study emphasizes the need for tailored clinical management during febrile illnesses, considering the potential for apnea-related arrhythmias and challenging-to-treat hypoxemia. Further research, including longitudinal studies and advanced physiological monitoring, is crucial for refining our understanding and informing targeted interventions for respiratory abnormalities in DS.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"19767382","pmcid":null,"openalex_id":"https://openalex.org/W4403621725","authors":[],"funders":[],"total_grants":0,"fwci":0.0,"citation_percentile":0.22614604,"influential_citations":0,"citation_trend":[],"oa_status":"hybrid","license":"cc-by","oa_locations":[{"url":"https://f.oaes.cc/xmlpdf/53061462-5d92-4572-8076-c6d3f2297e2b/rdodj3064.pdf","host_type":"journal"},{"url":"https://f.oaes.cc/xmlpdf/53061462-5d92-4572-8076-c6d3f2297e2b/rdodj3064.pdf","host_type":"publisher"},{"url":"https://doi.org/10.20517/rdodj.2023.64","host_type":"journal"}],"fields_of_study":["Epilepsy research and treatment","Neonatal and fetal brain pathology","Atomic and Subatomic Physics Research"],"mesh_terms":[],"keywords":["Dravet syndrome","Medicine","Intensive care medicine","Epilepsy","Psychiatry"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-07T18:32:47.995605Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}