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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility
Kirandeep Birdi1, Asuri N Prasad, Chitra Prasad
1Section of Pediatric Neurosciences, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada.
Insights
A systematic evaluation aids in diagnosing floppy infants. Targeted investigations like karyotyping and cranial imaging are crucial for identifying genetic and neurological causes in these infants.
Area of Science:
- Pediatrics
- Neurology
- Genetics
Background:
- Floppy infant, characterized by decreased muscle tone, presents a diagnostic challenge.
- Early identification and diagnosis are critical for managing outcomes in affected infants.
Purpose of the Study:
- To review the diagnostic yield of a systematic evaluation protocol for infants presenting with hypotonia.
- To identify common etiologies and outcomes in a cohort of floppy infants.
Main Methods:
- Retrospective study of infants under one year of age with hypotonia, evaluated between 1990-2000.
- Data collection included clinical assessment, electromyography, karyotyping, molecular diagnostics, cranial imaging, and muscle/skin biopsies.
- Diagnostic yield was assessed based on investigations performed.
Main Results:
- A definitive diagnosis was established in 67.4% of 89 infants.
- The most common diagnoses included central nervous system disorders (24.7%), genetic disorders (20.2%), and lower motor unit disorders (10.1%).
- Of survivors, 62.3% had global developmental delay, and 49.2% achieved independent ambulation.
Conclusions:
- Systematic evaluation, including karyotyping, DNA testing, and cranial imaging, maximizes diagnostic yield in floppy infants.
- Hypotonia in infants is frequently associated with significant neurological and developmental challenges.
Abstract:
We describe the results of a retrospective study of floppy infants evaluated at the Children's Hospital of Winnipeg, a tertiary care children's facility. Cases were ascertained by a systematic search of clinical databases, hospital and electromyographic records for "floppy" infants age < 1 year, referred over a period of 11 years (1990-2000). Eighty-nine infants, 42 female (47.2%) and 47 male (52.8%), were included in the study. A definitive diagnosis was established in 60 (67.4%) cases, in 24 cases (40%) on purely clinical grounds, whereas in 36 (60%) cases, additional investigations were necessary. Karyotype, molecular diagnostics, cranial imaging, and muscle and skin biopsy provided diagnostic information. Genetic disorders in 18 of 60 (20.2%), congenital or acquired disorders of the central nervous system in 22 of 60 (24.7%), and disorders of the lower motor unit in 9 of 60 (10.1%) contributed to the majority of diagnoses. Eight of 89 (8.9%) infants died in the first year, and 2 of 89 (2.6%) were on home ventilation. Of the 61 infants surviving beyond 12 months, 38 of 61 (62.3%) were found to be globally delayed, and only 30 of 61 (49.2%) achieved independent ambulation at their last clinical evaluation. Systematic evaluation of a floppy infant followed by careful selection of investigations (karyotype, DNA-based diagnostic tests, and cranial imaging) can maximize diagnostic yield.
