{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Morton SU"],"funding":["NICHD NIH HHS","National Institute for Health Research (NIHR)","Rosetrees","NIAMS NIH HHS"],"pagination":["405-413"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10134401"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["79(4)"],"pubmed_abstract":["Importance
Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease.Observations
The clinical application of exome sequencing or genome sequencing has dramatically improved the timely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in academic neonatal intensive care units (NICUs) across Australia, Canada, the UK, and the US, which compose the International Precision Child Health Partnership (IPCHiP). A total of 74% (17 of 23) of patien"],"journal":["JAMA neurology"],"pubmed_title":["Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review."],"pmcid":["PMC10134401"],"funding_grant_id":["NF-SI-0515-10022","SA2020 100001","R01 AR068429","M616","U19 HD077671"],"pubmed_authors":["Morton SU","French CE","Wakeling E","Christodoulou J","Wojcik MH","Raymond FL","Muntoni F","Agrawal PB","Stark Z","Szuto A","Costain G","Williams DA","Lunke S","Cohn RD","Darras BT","Dowling JJ","Rowitch DH"],"additional_accession":[]},"is_claimable":false,"name":"Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.","description":"Importance
Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease.Observations
The clinical application of exome sequencing or genome sequencing has dramatically improved the timely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in academic neonatal intensive care units (NICUs) across Australia, Canada, the UK, and the US, which compose the International Precision Child Health Partnership (IPCHiP). A total of 74% (17 of 23) of patien","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2026-05-28T12:45:38.212Z","creation":"2024-11-12T07:06:59.879Z"},"accession":"S-EPMC10134401","cross_references":{"pubmed":["35254387"],"doi":["10.1001/jamaneurol.2022.0067"]}}