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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of
Patricia K Duffner1, Carl Granger, Nancy Lyon
1Department of Neurology, University at Buffalo School of Medicine, Buffalo, NY 14203, USA. duffner@buffalo.edu
Insights
A telephone-based system effectively monitors developmental progress in infants with Krabbe disease newborn screening results. This method improves follow-up compliance compared to traditional neuropsychological testing.
Area of Science:
- Medical Genetics
- Pediatric Neurology
- Neonatal Screening
Background:
- Krabbe disease is a rare, fatal neurometabolic disorder.
- Newborn screening for Krabbe disease identifies infants at risk.
- Early monitoring of developmental status is crucial for affected infants.
Purpose of the Study:
- To evaluate a telephone-based interview system for monitoring children with positive Krabbe disease newborn screens.
- To compare compliance rates between telephone monitoring and formal neuropsychological testing.
Main Methods:
- A longitudinal prospective cohort study enrolled infants with low galactocerebrosidase activity.
- Telephone interviews using standardized developmental instruments were conducted at multiple infant ages.
- Formal Bayley Scales of Infant and Toddler Development (Bayley III) assessments were scheduled at 12 and 24 months.
Main Results:
- Seventeen patients were enrolled; high completion rates were observed for telephone interviews.
- Most developmental and functional scores were within the normal range, except for expressive language.
- Only 7 patients completed the Bayley III assessments, with all scores being normal.
Conclusions:
- Telephone-based monitoring is a viable method for tracking developmental status in infants with Krabbe disease newborn screening results.
- This approach enhances compliance with follow-up assessments compared to formal neuropsychological testing.
- Early detection of developmental plateaus or regressions is facilitated by this method.
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.
