ReviewJAMA neurology2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Review in JAMA neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness.JAMA network open · 2026Observational
- Role of next generation sequencing in neonatal diagnosis and screening.Journal of neuromuscular diseases · 2026Review
- Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.BMC medicine · 2026Article
- Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.Neurology. Genetics · 2026Article
- Application of the neonatal 'floppy module' to older infants: can it be used for differential diagnosis?European journal of pediatrics · 2025Article
- Cross-disciplinary risk prediction for muscle weakness and physical decline in older adults: A machine learning model integrating social determinants of health and clinical characteristics.The Journal of international medical research · 2025Article
- Implementation of multi-omics in diagnosis of pediatric rare diseases.Pediatric research · 2025Review
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Neurology · 2025Article
- Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.Neurology and therapy · 2024Article
- Article
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.Nature genetics · 2024Article
- Nemaline Myopathy in a Hypotonic Neonate: Diagnostic Approach for Early Detection and Management.Cureus · 2024Article
- Rapid genomic testing in critically ill patients with genetic conditions: position statement by the Human Genetics Society of Australasia.European journal of human genetics : EJHG · 2024Article
- Early onset critically ill infants with Schaaf-Yang syndrome: a retrospective study from the China neonatal genomes project and literature review.Annals of translational medicine · 2023Article
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine.Database : the journal of biological databases and curation · 2023Article
Corrections and comments
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Authors and funding
17 authors.
Funding
Abstract
importanceInfants 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 patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targeted therapy. This narrative review discusses the common causes of neonatal hypotonia, the relative benefits and limitations of available testing modalities used in NICUs, and hypotonia management recommendations. CONCLUSIONS AND RELEVANCE: This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, including improved prognostication and identification of targeted treatments which can improve the short-term and long-term outcomes. Institutional resources can vary among different NICUs; as a result, consideration should be given to rule out a small number of relatively unique conditions for which rapid targeted genetic testing is available. Nevertheless, the consensus recommendation is to use rapid genome or exome sequencing as a first-line testing option for NICU patients with unexplained hypotonia. As part of the IPCHiP, this diagnostic experience will be collected in a central database with the goal of advancing knowledge of neonatal hypotonia and improving evidence-based practice.
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