Journal article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
SU Morton, J Christodoulou, G Costain, F Muntoni, E Wakeling, MH Wojcik, CE French, A Szuto, JJ Dowling, RD Cohn, FL Raymond, BT Darras, DA Williams, S Lunke, Z Stark, DH Rowitch, PB Agrawal
JAMA Neurology | AMER MEDICAL ASSOC | Published : 2022
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 Internati..
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Awarded by Boston Children's Hospital
Funding Acknowledgements
This work was supported in part by grant R01 AR068429 from the National Institute of Arthritis and Musculoskeletal and Skeletal Diseases of the National Institutes of Health and grant U19 HD077671 from the National Institute of Child Health and Human Development/National Human Genome Research Institute of the National Institutes of Health (Dr Agrawal); the Gene Discovery Core of The Manton Center for Orphan Disease Research, Boston Children's Hospital; the Boston Children's Hospital Office of Faculty Development Career Development Fellowship, American Heart Association Postdoctoral Fellowship, and American Heart Association Career Development Award (Dr Morton); grant BRC-1215-20014 from the National Institute for Health Research Cambridge Biomedical Research Centre and the National Institute for Health Research Rare Disease Bioresource; grant 1113531 from the National Health and Medical Research Council (Drs Stark, Lunke, and Christodoulou); the Royal Children's Hospital Foundation; grant GHFM76747 from the Medical Research Futures Fund; the Victorian Government's Operational Infrastructure Support Program; the Royal Children's Hospital Foundation (Dr Christodoulou); the Sick Kids Centre for Genetic Medicine; the University of Toronto McLaughlin Centre; and the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, the Great Ormond Street Institute of Child Health, the University College London, and the Great Ormond Street Hospital Trust (Dr Muntoni). Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.