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Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed
Sally Lanar1, Samantha Parker2, Cara O'Neill3
1Icon Plc, Lyon, France. sally.lanar@iconplc.com.
Background:
MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approved therapies for MPS IIIA.
Methods:
A two-year, multi-center, prospective, descriptive cohort study was conducted to document the natural history course of MPS IIIA. In the context of this study, semi-structured interviews were performed with parents of children at study entry and one year later. Interview transcripts were analyzed using thematic analysis methods to identity concepts of interest to children and parents, identify what factors impacted parents' burden the most, and develop qualitatively-derived disease severity stages. Children were sorted into these stages according to the symptoms their parents described at the entry interview. This sorting was compared quantitatively to the sorting of children at baseline according to the child's calendar age and their BSID development quotient (DQ).
Results:
22 parents in France, Germany, the Netherlands and the UK were interviewed. Children ranged in age from 28 to 105 months (mean 61.4 months). The conceptual models for children's symptoms and impacts and parents' impacts provided a detailed and comprehensive picture of what it is like for children of various ages and their parents to live with MPS IIIA. Four factors were identified as mediating the burden perceived by parents: state support, family support, time since diagnosis, and parent coping strategy. Four disease stages were developed, accounting for both the presence and the severity of MPS IIIA symptoms. The comparison of children's sorting into these stages with the BSID DQ and the child's calendar age showed strong statistical associations.
Conclusions:
The findings of this qualitative research embedded in a natural history study add to the current understanding of MPS IIIA as a complex disease that impacts every aspect of the lives of children and their families. This study demonstrates the unique potential of mixed methods research in rare diseases to address some of the current limitations of more traditional quantitative approaches by providing an individualized, detailed understanding of the patient experience.
Insights
This study details the lived experiences of families with Mucopolysaccharidosis type IIIA (MPS IIIA), a rare genetic disorder. It developed new disease stages and identified factors influencing parental burden, offering a deeper understanding of MPS IIIA.
Area of Science:
- Pediatric Genetics
- Rare Diseases
- Lysosomal Storage Disorders
Background:
- Mucopolysaccharidosis type IIIA (MPS IIIA) is a rare, severe pediatric genetic disorder.
- It causes progressive decline in cognition, mobility, and behavior, with a mean age of death around 15 years.
- Currently, no approved therapies exist for MPS IIIA.
Purpose of the Study:
- To document the natural history and patient experience of MPS IIIA.
- To identify factors impacting parental burden.
- To develop qualitatively-derived disease severity stages.
Main Methods:
- A two-year, multi-center, prospective, descriptive cohort study.
- Semi-structured interviews with parents of children with MPS IIIA at study entry and one year later.
- Thematic analysis of interview transcripts and comparison with quantitative measures (BSID DQ, calendar age).
Main Results:
- 22 parents across four European countries were interviewed.
- Conceptual models detailed the impact of MPS IIIA on children and parents.
- Four factors (state support, family support, time since diagnosis, coping strategy) mediated parental burden.
- Four disease stages were developed, showing strong statistical associations with BSID DQ and calendar age.
Conclusions:
- This qualitative research enhances understanding of MPS IIIA as a complex disease impacting all aspects of affected children's and families' lives.
- Mixed-methods research in rare diseases offers individualized insights beyond traditional quantitative approaches.
- The study provides a detailed understanding of the patient experience in MPS IIIA.
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