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JIMD Reports - Case and Research Reports, Volume 13 pp 129–137Cite as

Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome

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Part of the book series: JIMD Reports ((JIMD,volume 13))

Abstract

Objectives: (1) Develop a methodology for obtaining reliable cognitive and developmental data in children with neurodegenerative disease and cognitive impairment and in turn monitor disease state and treatment outcomes. (2) Demonstrate validity of age-equivalent scores.

Methods: We present guidelines for obtaining accurate test scores in low-functioning and behaviorally disruptive pediatric patients, followed by a method validation study: (1) using disease-specific protocols to assess salient aspects of the known phenotype, (2) selecting appropriate tests, (3) managing behavior, and (4) using age-equivalent scores on standardized tools. We used the Bayley Scales of Infant Development-III or Kaufman Assessment Battery for Children-II with a group of 25 children with mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) with dementia. To demonstrate concurrent validity, we used the Vineland Adaptive Behavior Scales-II, comparing parent-reported age-equivalent scores (AEs) with those of the cognitive measures.

Results: We were successful in obtaining cognitive age-equivalents for 25 patients with MPS IIIA including those with severe behavioral disruption and a correlation of 0.95 was obtained comparing scores on the parent measure with cognitive age-equivalents validating the age-equivalent approach.

Conclusion: An approach to the assessment of severely impaired children including those with behavioral disruption was implemented and is applicable to children with other severe neurological diseases. This approach will enhance the assessment of disease progression and monitoring of treatment outcome in clinical trials.

Competing interests: None declared

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Acknowledgements

The authors would like to acknowledge the support of Shire Pharmaceuticals and the Lysosomal Disease Network.

The Lysosomal Disease Network (U54NS065768) is a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

    Kathleen A. Delaney, Brianna D. Yund, Chester B. Whitley & Elsa G. Shapiro

  2. Department of Biostatistics, University of Minnesota, Minneapolis, MN, USA

    Kyle R. Rudser

  3. Shire, Lexington, MA, USA

    Patrick A. J. Haslett

  4. MMC 486 Delaware St., SE Minneapolis, MN, 55455, USA

    Kathleen A. Delaney

Authors
  1. Kathleen A. Delaney
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  2. Kyle R. Rudser
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  3. Brianna D. Yund
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  4. Chester B. Whitley
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  5. Patrick A. J. Haslett
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  6. Elsa G. Shapiro
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Corresponding author

Correspondence to Kathleen A. Delaney .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Clinical Pharmacology Unit, WSU Division of Health Sciences, Spokane, USA

    K. Michael Gibson

  3. Department of Biochemistry Genetics Unit, University of Oxford, Oxford, United Kingdom

    Garry Brown

  4. Department of Pediatrics IGMD, Tulane University Medical Center, New Orleans, Louisiana, USA

    Eva Morava

  5. Center for Child and Adolescent Medicine Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Frits Wijburg, MD, PhD

Summary Statement

Summary Statement

A validated method of neurodevelopmental assessment in children with Sanfilippo and other neurodegenerative diseases.

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© 2013 SSIEM and Springer-Verlag Berlin Heidelberg

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Delaney, K.A., Rudser, K.R., Yund, B.D., Whitley, C.B., Haslett, P.A.J., Shapiro, E.G. (2013). Methods of Neurodevelopmental Assessment in Children with Neurodegenerative Disease: Sanfilippo Syndrome. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Case and Research Reports, Volume 13. JIMD Reports, vol 13. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2013_269

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  • DOI: https://doi.org/10.1007/8904_2013_269

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54148-3

  • Online ISBN: 978-3-642-54149-0

  • eBook Packages: MedicineMedicine (R0)

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