The Epidemiology of Persons Living with Fontan in 2020 and Projections for 2030: Development of an Epidemiology Model Providing Multinational Estimates.

INTRODUCTION: Fontan surgery is a palliative procedure performed in children with a functionally univentricular heart. Improvements in surgical technique over the past 30 years have increased life expectancy in this rare population. However, the epidemiology of persons living with Fontan is poorly understood. This study aimed to estimate the 2020 and 2030 prevalence of persons living with a Fontan circulation in 11 countries across the US, Europe, Australia and New Zealand, by procedure type: [atriopulmonary connection (AP), lateral tunnel total cavopulmonary connection (LT-TCPC) or extracardiac total cavopulmonary connection (EC-TCPC)]; and age group: [children (< 12 years), adolescents (12-17 years), and adults (≥ 18 years old)] by building an epidemiologic model. METHODS: The annual number of Fontan surgeries by country in 2010-2020 were extracted from hospital or claims databases, via procedure codes. The epidemiology of persons living with Fontan was modelled by applying these surgery frequencies to mid-year populations from 1972 to 2020 and overlaying an uptake curve. A literature search identified: 30-day mortality rates, long-term survival, and median age at surgery. Averages of these estimates were inputted into the model to project prevalence in 2030. RESULTS: The number of persons living with Fontan in 2020 across the 11 countries was estimated to be 47,881 [66 people per million (ppm)], rising to 59,777 (79 ppm) by 2030. In 2020, this population was 55% adults, 17% adolescents and 28% children shifting to 64%, 13% and 23%, respectively, in 2030. Among all persons living with Fontan, 74%/18%/9% are estimated to have EC-TCPC/LT-TCPC/AP, respectively, in 2020, and 83%/14%/4% in 2030. CONCLUSIONS: According to this epidemiology model, the Fontan population is growing, partly driven by increased survival rates with the more recent LT-TCPC and EC-TCPC procedures (compared with AP). The 2020/2030 prevalence of persons living with Fontan is 66/79 ppm.

Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study.

BACKGROUND: The 32-item Motor Function Measure (MFM32) is a clinician-reported outcome measure used to assess the functional abilities of individuals with neuromuscular diseases, including those with spinal muscular atrophy (SMA). This two-part study explored the relationship between the functional abilities assessed in the MFM32 and activities of daily living (ADLs) from the perspective of individuals with Type 2 and Type 3 (non-ambulant and ambulant) SMA and their caregivers through qualitative interviews and a quantitative online survey. METHODS: In-depth, semi-structured, qualitative interviews were conducted with individuals with SMA and caregivers from the US. Subsequently, a quantitative online survey was completed by individuals with SMA or their caregivers from France, Germany, Italy, Poland, Spain, Canada, the United States (US) and the UK. In both parts of the study, participants were asked to describe the ADLs considered to be related to the functional abilities assessed in the MFM32. Results from the qualitative interviews informed the content of the quantitative online survey. RESULTS: Qualitative interviews were conducted with 15 adult participants, and 217 participants completed the quantitative online survey. From the qualitative interviews, all of the functional abilities assessed in the patient-friendly MFM32 were deemed as related to one or more ADL. The specific ADLs that participants considered related to the patient-friendly MFM32 items could be grouped into 10 key ADL domains: dressing, mobility/transferring, self-care, self-feeding, reaching, picking up and holding objects, physical activity, writing and technology use, social contact/engagement, toileting and performing work/school activities. These results were confirmed by the quantitative online survey whereby the ADLs reported to be related to each patient-friendly MFM32 item were consistent and could be grouped into the same 10 ADL domains. CONCLUSION: This study provides in-depth evidence from the patient/caregiver perspective supporting the relevance of the patient-friendly MFM32 items to the ADLs of individuals with Type 2 and Type 3 SMA.