title: Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood.
abstract: BACKGROUND
  Predicting later outcome in neonates presenting with severe inborn errors of metabolism (IEM) is difficult. The assessment of the early motor repertoire is a reliable method of evaluating the integrity of the central nervous system in young infants. This method is based on an age-specific qualitative assessment of general movements (GMs, 0-8 weeks of age), fidgety movements (FMs) and the concurrent motor repertoire (9-20 weeks of age).
  
  
  OBJECTIVE
  To determine the quality of the early motor repertoire (at 0-20 weeks post term age) in relation to later neurological outcome in infants with severe IEM.
  
  
  METHODS
  Prospective cohort study. The quality of the motor repertoire was assessed from serial videotape recordings.
  
  
  METHODS
  Five infants with IEM. Four presented with a severe IEM in the neonatal period: an undefined gluconeogenesis defect, propionic acidemia, arginosuccinate synthetase and arginosuccinate lyase deficiency. One neonate was antenatally diagnosed with arginosuccinate synthetase deficiency.
  
  
  METHODS
  Outcome at the age of at least 18 m was determined by neurological examination and developmental tests.
  
  
  RESULTS
  All infants initially had abnormal GMs: hypokinesia, followed by GMs of a poor repertoire. The quality of the early motor repertoire normalised in 3 infants, and remained abnormal in 2. The more severe and persistent abnormalities of the motor repertoire were considered with the more abnormal neurological and developmental scores, later on.
  
  
  CONCLUSIONS
  The quality of the early motor repertoire might be related to later neurological outcome in infants with inborn errors of metabolism.
authors.affiliation: Department of Pediatrics, Division of Neonatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. j.l.m.bruggink@bkk.umcg.nl
authors.forename: J L M
authors.initials: JL
authors.lastname: Bruggink
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
authors.forename: B J
authors.initials: BJ
authors.lastname: Wijnberg-Williams
authors.forename: A F
authors.initials: AF
authors.lastname: Bos
mesh_terms: D000367:Age Factors; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D015331:Cohort Studies; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009043:Motor Activity; D010865:Pilot Projects; D011379:Prognosis