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The Floppy Infant: Retrospective Analysis of Clinical Experience (1990—2000) in a Tertiary Care Facility

Sections of Pediatric Neurosciences, University of Manitoba

Asuri N. Prasad, MBBS

Sections of Pediatric Neurosciences, University of Manitoba, Departments of Paediatrics and Child Health, University of Manitoba, narayan.prasad{at}lhsc.on.ca

Chitra Prasad, MBBS

Genetics and Metabolism, University of Manitoba, Departments of Paediatrics and Child Health, University of Manitoba, Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada

Bernard Chodirker, MD

Genetics and Metabolism, University of Manitoba, Departments of Paediatrics and Child Health, University of Manitoba, Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada

Albert E. Chudley, MD

Genetics and Metabolism, University of Manitoba, Departments of Paediatrics and Child Health, University of Manitoba, Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada

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. (J Child Neurol 2005;20:803—808).

Journal of Child Neurology, Vol. 20, No. 10, 803-808 (2005)
DOI: 10.1177/08830738050200100401


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