title: Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique.
abstract: OBJECTIVE
  To assess the utility of a telephone-based interview system in providing ongoing monitoring of the developmental and functional status of children with both positive newborn screens for Krabbe disease and low galactocerebrosidase activity on confirmatory testing, and to determine whether this approach provides improved compliance with follow-up compared with formal neuropsychological testing.
  
  
  METHODS
  Infants with low galactocerebrosidase activity (as detected by the New York State newborn screening program) were eligible for this longitudinal prospective cohort study. Consenting families were interviewed by telephone at infant ages of 4, 8, 12, 18, and 24 months. Designated instruments were the Ages and Stages Questionnaires, the Clinical Linguistic and Auditory Milestone Scale, the Gross Motor Quotient, the Warner Initial Developmental Evaluation of Adaptive and Functional Skills 50, and the WeeFIM II 0-3 instrument. Assessments with the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley III) were scheduled at age 12 and 24 months.
  
  
  RESULTS
  Seventeen patients were enrolled; 16 were assessed at age 12 and 18 months, and 15 were assessed at age 24 months. Scores were within the normal range on all tests of developmental and functional status, with the exception of expressive language. Only 7 patients completed the Bayley Scales of Infant and Toddler Development, Third Edition assessments; all their scores were in the normal range.
  
  
  CONCLUSIONS
  This telephone-based technique allows close monitoring of the developmental and functional status of children with a positive newborn screen for this neurometabolic disease, with special attention to detecting plateauing or regression of developmental milestones. Compliance is improved compared with formal neuropsychological testing.
authors.affiliation: Department of Neurology, University at Buffalo School of Medicine, Buffalo, NY 14203, USA. duffner@buffalo.edu
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Duffner
authors.forename: Carl
authors.initials: C
authors.lastname: Granger
authors.forename: Nancy
authors.initials: N
authors.lastname: Lyon
authors.forename: Paulette
authors.initials: P
authors.lastname: Niewczyk
authors.forename: Amy
authors.initials: A
authors.lastname: Barczykowski
authors.forename: Sarah
authors.initials: S
authors.lastname: Bauer
authors.forename: Michael E
authors.initials: ME
authors.lastname: Msall
mesh_terms: D002675:Child, Preschool; D003071:Cognition; D003142:Communication; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007407:Interviews as Topic; D007804:Language Development; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000175:diagnosis; D008137:Longitudinal Studies; D008297:Male; D015997:Neonatal Screening; D009483:Neuropsychological Tests; D010865:Pilot Projects; D011597:Psychomotor Performance; D011795:Surveys and Questionnaires; D013689:Telephone