title: The floppy infant: retrospective analysis of clinical experience (1990-2000) in a tertiary care facility.
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.
authors.affiliation: Section of Pediatric Neurosciences, Faculty of Medicine, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Kirandeep
authors.initials: K
authors.lastname: Birdi
authors.forename: Asuri N
authors.initials: AN
authors.lastname: Prasad
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.forename: Bernard
authors.initials: B
authors.lastname: Chodirker
authors.forename: Albert E
authors.initials: AE
authors.lastname: Chudley
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D011379:Prognosis; D012121:Respiration, Artificial; D012189:Retrospective Studies; D013534:Survival