Related Experiment Video

Updated: Jan 13, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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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
PubMed

Insights

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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