Utilization and Perceptions of Healthcare from a National Survey of Families with Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder that creates significant healthcare needs and greatly impacts families. As interventions improving life quality and expectancy have become available and as care recommendations have been established, it has become increasingly important to understand what services families are utilizing and their perceptions of this care. This study describes data from the US National Initiative for Families with Duchenne (NIFD) questionnaire, which was designed in part to explore these aspects of families’ experiences. Differences between sub-populations in the dataset and associations between survey variables were analyzed. NIFD data were compared to data from a more recent patient registry, DuchenneConnect (DC), which also assesses healthcare utilization in individuals with DMD.\ud Child’s health status and medical care variables were examined from 191 NIFD surveys completed by family members of children with DMD. While many families were receiving multidisciplinary care, timing of first visits and the need for certain providers were shown as areas where families could use more education. Socioeconomic differences between NIFD sub-populations revealed possible explanations for differences in care. Factors associated with pain frequency and overall life satisfaction in individuals with DMD emphasize the need for multidisciplinary care and provide areas where healthcare providers can assist families.\ud Comparison of NIFD and DC data revealed a wider phenotypic spectrum in the latter group. DC registrants reported less problems with certain medical expenses and higher use of therapies. These differences point to the need to assess a large population to develop an accurate picture of DMD and hopefully indicate that awareness and access to important services and interventions has improved over time.\ud DMD is the most common fatal genetic disorder affecting children across all ethnic backgrounds. This high, pan-ethnic incidence as well the significant impact of the disease on individuals with DMD and their families make this a condition of public health concern. Understanding service utilization as well as families’ perceptions of it will help in addressing potential gaps and barriers experienced in caring for individuals with DMD and will thus inform public health policies to help these families.\u