Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children

Children who have lysosomal disease experience declines in health status and central nervous
system integrity which result in motor, communication, self-care, learning and behavioral
challenges. Medical interventions such as enzyme replacement therapy (ERT) and hematopoietic
stem cell transplantation can improve the health and functioning of children with lysosomal
disease. To date, however, there is no established system for evaluating the health status,
developmental status, behavioral outcomes or functional outcomes of these preschool-aged
children across time and differing settings. The primary objective of this study is to
develop a valid and reliable telephone-based data-gathering system for obtaining health
status data, developmental status data, behavioral outcomes data, and functional outcomes
data which reflect skills of daily living including feeding, moving, communicating and
responding to others.

The secondary objective of this study is to assess the validity of several early-childhood
standardized assessment tools as compared to the standard neuropsychological assessment
battery specified by the Lysosomal Disease Network's 'Neurobehavioral Core.'

The third objective of this study is to describe the impact of lysosomal disease upon the
families of lysosomal disease-affected children.

Inclusion Criteria:

Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI.
Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease.
Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who have a
positive screening for Krabbe disease.

Exclusion Criteria:

Children who do not have a lysosomal disease are excluded from this study.