Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome

Kathleen A. Delaney, Kyle R. Rudser, Brianna D Yund, Chester B. Whitley, Patrick A.J. Haslett, Elsa G Shapiro

Research output: Chapter in Book/Report/Conference proceedingChapter

36 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationJIMD Reports
Number of pages9
StatePublished - 2014

Publication series

NameJIMD Reports
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Bibliographical note

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

Funding Information:
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.

Publisher Copyright:
© 2013, SSIEM and Springer-Verlag Berlin Heidelberg.


  • Developmental quotient
  • Impaired child
  • Lysosomal storage disease
  • Standard score
  • Vineland adaptive behavior


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