Practical management of behavioral problems in mucopolysaccharidoses disorders

Maria L. Escolar, Simon A. Jones, Elsa G. Shapiro, Dafne D.G. Horovitz, Christina Lampe, Hernán Amartino

Research output: Contribution to journalReview articlepeer-review

29 Scopus citations


The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII. As these problems often place a significant burden on the family, proper management is important. This review summarizes current insights into behavioral and sleeping problems in MPS disorders and the most optimal management approaches, as presented and discussed during a meeting of an international group of experts with extensive experience in managing and treating MPS.

Original languageEnglish (US)
Pages (from-to)35-40
Number of pages6
JournalMolecular Genetics and Metabolism
StatePublished - Dec 2017

Bibliographical note

Funding Information:
The authors would like to thank Dr. Joseph Muenzer for his contribution to the content of this manuscript. The authors are grateful to Ismar Healthcare NV for their assistance in the writing of this manuscript, which was funded by BioMarin Pharmaceutical Inc. The expert meeting in Stockholm was also sponsored by BioMarin Pharmaceutical Inc.

Publisher Copyright:
© 2017 Elsevier Inc.


  • Behavior
  • Child behavior disorders
  • Lysosomal storage diseases
  • Mental disorders
  • Mucopolysaccharidoses


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