Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique - 24/07/12
, Carl Granger, MD 2, Nancy Lyon, CPNP 3, Paulette Niewczyk, PhD 2, 4, Amy Barczykowski, MS 5, Sarah Bauer, MD 6, Michael E. Msall, MD 7
Reprint requests: Patricia K. Duffner, MD, Professor of Neurology and Pediatrics, Clinical Director, Hunter James Kelly Research Institute, University at Buffalo School of Medicine, 701 Ellicott Street, Buffalo, New York 14203.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.
Study design |
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.
Conclusion |
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.
Le texte complet de cet article est disponible en PDF.Mots-clés : ASQ 2, BAILEY II, BAILEY III, CLAMS, GALC, GMQ, WIDEA-FS 50
Plan
| Funded by the Children’s Guild of Buffalo. M.M. and N.L. developed the Warner IDEA FS and C.G. developed the WeeFIM II 0-3 instrument, which is a trademark of Uniform Data System for Medical Rehabilitation, a division of UB Foundation Activities, Inc. The other authors declare no conflicts of interest. |
Vol 161 - N° 2
P. 258 - août 2012 Retour au numéro
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