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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The floppy infant revisited: From bedside to genome
Gianpaolo Cicala1,2, Eugenio Mercuri1,2
1Centro Clinico NeMO, Fondazione A. Policlinico Gemelli, IRCCS, Rome, Italy.
Developmental Medicine and Child Neurology
|January 6, 2026
Summary
Diagnosing neonatal hypotonia requires a structured approach, combining clinical assessment with advanced genomic tools for faster, accurate identification of causes and enabling early intervention for better outcomes.
Area of Science:
- Neonatology
- Genetics
- Pediatric Neurology
Background:
- Neonatal hypotonia poses a significant diagnostic challenge.
- Timely evaluation is crucial for identifying underlying causes and initiating appropriate care.
Purpose of the Study:
- To review recent advances in diagnosing and managing early-onset neonatal hypotonia.
- To highlight the integration of clinical assessment and genetic technologies.
Main Methods:
- A narrative review based on a targeted PubMed search and clinical guidelines.
- Focused on diagnostic and management strategies, including genetic tools and advanced therapies.
Main Results:
- Structured clinical assessment is fundamental, guiding the selection of investigations.
- Rapid genomic technologies (exome/genome sequencing) have substantially increased diagnostic yield.
- Early detection of treatable conditions facilitates timely intervention.
Conclusions:
- Integrating bedside assessment with genomic tools accelerates diagnosis and improves patient outcomes.
- Early and accurate diagnosis is key to effective management of neonatal hypotonia.
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