Abstract
Long-term follow-up of neuropsychological functioning in metabolic disorders remains difficult due to limited opportunities for comprehensive neuropsychological evaluations. This study examined the validity of using the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for assessing developmental status in metabolic disorders and for identifying individuals at risk for cognitive deficits. Results from individuals with urea cycle disorders, phenylketonuria, galactosemia, and fatty acid oxidation disorders were obtained on the ABAS-II and BRIEF and were compared to results obtained from neuropsychological testing performed on the same day. Correlations between scores on the ABAS-II and developmental or IQ tests for individuals with urea cycle disorders ranged from 0.48 to 0.72 and concordance rates for scores greater than a standard deviation below the normative mean ranged from 69 to 89%. Correlations ranged from 0.20 to 0.68 with concordance ranging from 73 to 90% in the other metabolic disorders. For the BRIEF, correlations with other tests of executive functioning were significant for urea cycle disorders, with concordance ranging from 52 to 80%. For the other metabolic disorders, correlations ranged from −0.09 to −0.55. Concordance rates for at-risk status on the BRIEF and executive functioning tests ranged from 55% in adults to 80% in children with other metabolic disorders. These results indicate that the ABAS-II and BRIEF together can confidently be used as an adjunct or supplementary method for clinical follow-up and for research on functional status involving infants, children, and adults with metabolic disorders.
Competing interests: None declared
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Acknowledgments
The authors acknowledge the help of Rachel Loeb and Jennifer Wilson for their help in data collection and analyses. The authors also acknowledge members of the Urea Cycle Consortium and especially the psychologists who performed the evaluations and members of the IDDRC Data Coordinating Center who graciously provided access to the database. The Urea Cycle Disorders Consortium is a part of the NIH Rare Diseases Clinical Research Network (RDCRN). Funding and/or programmatic support for this project has been provided by U54HD061221 through collaboration between from the National Institute of Child Health and Human Development (NICHD) and the NIH Office of Rare Diseases Research (ORDR) and award numbers UL1TR000075 and KL2TR000076 from the NIH National Center for Advancing Translational Science (NCATS). This study was also supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD, 5R21HD062959-02). Additional support was obtained through the Intellectual and Developmental Disabilities Research Award, NIH P30HD040677.
The views expressed in written materials or publications are solely the responsibility of the authors and do not necessarily represent the views of the National Institutes of Health or official policies of the Department of Health and Human Services, nor does mention of trade names, commercial practices, or organizations imply endorsement by the US Government. The Urea Cycle Disorders Consortium is also supported by the O’Malley Foundation, the Rotenberg Family Fund, the Dietmar-Hopp Foundation, and the Kettering Fund.
BioMarin Pharmaceutical Company and the Galactosemia Foundation provided support for the studies from which data on individuals with PKU and galactosemia were extracted.
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Communicated by: Susan E. Waisbren, PhD
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The Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) are two questionnaires that provide a valid and quick method for assessing psychological functioning in urea cycle and other metabolic disorders.
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Conflict of Interest
Dr. Waisbren receives grant support from BioMarin Pharmaceuticals and has, in the past, consulted to the company with regard to psychological assessment of individuals with PKU.
Dr. He and Dr. McCarter declare that they have no conflict of interest.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5).
Informed consent was obtained from all patients included in the studies. The Institutional Review Board at Boston Children’s Hospital approved the medical record review from patients who were not enrolled in a study but who had received the questionnaires and neuropsychological testing as part of clinical follow-up in the past.
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Dr. Waisbren conceived and designed this study. She oversaw data collection, conducted data analyses, interpreted data, and drafted the manuscript.
Dr. He assisted in data analysis and interpretation. He critically reviewed and revised the manuscript.
Dr. McCarter assisted in study design and was the lead contributor to data analysis and interpretation. He assisted in initial drafting of the manuscript and critically reviewed and revised subsequent drafts.
Guarantor: Susan Waisbren, Ph.D.
Funding for the studies from which data were extracted includes the following: NIH Rare Diseases Clinical Research Network (RDCRN), National Institute of Child Health and Human Development (NICHD), NIH Office of Rare Diseases Research (ORDR), the National Center for Advancing Translational Science (NCATS), O’Malley Foundation, Rotenberg Family Fund, Dietmar-Hopp Foundation, Kettering Fund, BioMarin Pharmaceutical Company, and Galactosemia Foundation.
The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Institutional Review Board (IRB) approval was obtained for each of the studies from which data were extracted. All subjects with urea cycle disorders signed informed consent forms as part of their participation in the Longitudinal Study of Urea Cycle Disorders. Permission to conduct a chart review and use existing databases from studies in phenylketonuria, galactosemia, and fatty acid oxidation disorders for which informed consent had previously been obtained was granted by the IRB at Boston Children’s Hospital.
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Waisbren, S.E., He, J., McCarter, R. (2014). Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 21. JIMD Reports, vol 21. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_373
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DOI: https://doi.org/10.1007/8904_2014_373
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