The floppy infant revisited: From bedside to genome

Abstract

Neonatal hypotonia presents a complex diagnostic challenge that requires timely, structured evaluation to identify underlying causes and initiate appropriate care. A narrative review was conducted based on a targeted search of PubMed and major clinical guidelines, focusing on recent advances in the diagnosis of early-onset hypotonia, spanning from clinical to new genetic tools, while also exploring different aspects of management, including new advanced therapies. A structured clinical assessment remains fundamental, especially where access to advanced investigations is limited, and can help the clinician to select the appropriate investigations to achieve a definite diagnosis. Rapid genomic technologies, including exome and genome sequencing, have significantly improved diagnostic yield. Early detection of treatable conditions can enable timely initiation of intervention. Integrating bedside assessment with genomic tools can accelerate diagnosis and improve outcomes, thus facilitating early intervention.