Defining Natural History: Assessment of the Ability of College Students to Aid in Characterizing Clinical Progression of Niemann-Pick Disease, Type C

Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical outcome measure to assess urgently needed therapies. To this end, clinical investigators have defined emerging, disease severity scales. The average time from initial symptom to diagnosis is approximately 4 years. Further, some patients may not travel to specialized clinical centers even after diagnosis. We were therefore interested in investigating whether appropriately trained, community-based assessment of patient records could assist in defining disease progression using clinical severity scores. In this study we evolved a secure, step wise process to show that pre-existing medical records may be correctly assessed by non-clinical practitioners trained to quantify disease progression. Sixty-four undergraduate students at the University of Notre Dame were expertly trained in clinical disease assessment and recognition of major and minor symptoms of NPC. Seven clinical records, randomly selected from a total of thirty seven used to establish a leading clinical severity scale, were correctly assessed to show expected characteristics of linear disease progression. Student assessment of two new records donated by NPC families to our study also revealed linear progression of disease, but both showed accelerated disease progression, relative to the current severity scale, especially at the later stages. Together, these data suggest that college students may be trained in assessment of patient records, and thus provide insight into the natural history of a disease

Access to primary care child weight management programs: Urban parent barriers and facilitators to participation

The prevalence and comorbidities of childhood obesity among low-income urban children are a significant health issue in the United States. Programs designed to assist families are underutilized. The aim of this study is to describe barriers and facilitators relevant to intervention program participation from the perspective of parents who have children who are overweight or obese. Systematic thematic analysis of focus groups and semi-structured interviews with parents from multiple urban pediatrics and family medicine practices were used to gather data. A framework analysis approach was used and a codebook of themes was developed. Transcripts were coded independently by the research team and consensus among researchers was reached. Forty-eight parents participated in the study. Perceived barriers to participation included (1) varied referral process (lack of follow-up or varying referral experience), (2) costs (time and program fee), (3) logistics (location and program schedule), and (4) child motivation. Perceived facilitators to participation included (1) systematic referral process (in-office referral and timely follow-up), (2) program content and organization, and (3) no cost. Multiple barriers and facilitators affect weight management program participation among families, which should be specifically targeted in future obesity interventions in order to effectively reach urban, minority parents and children