Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response

Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem inflammatory disease. Distinguishing features include cutaneous, neurological, ophthalmologic, and rheumatologic manifestations. CAPS results from a gain-of-function mutation of the NLRP3 gene coding for cryopyrin, which forms intracellular protein complexes known as inflammasomes. Defects of the inflammasomes lead to overproduction of interleukin-1, resulting in inflammatory symptoms seen in CAPS. Diagnosis is often delayed and requires a thorough review of clinical symptoms. Remarkable advances in our understanding of the genetics and the molecular pathway that is responsible for the clinical phenotype of CAPS has led to the development of effective treatments. It also has become clear that the NLRP3 inflammasome plays a critical role in innate immune defense and therefore has wider implications for other inflammatory disease states

Supporting the needs of people with developmental disabilities one year into the COVID-19 pandemic: An international, mixed methods study of nurses’ perspectives

As the largest public health crisis within a century, the COVID-19 pandemic has caused long-term disruption in the support systems of people with intellectual and developmental disabilities (IDD) across the globe. The purpose of this study was to investigate challenges and ameliorative strategies to supporting the basic care needs of people with IDD 1 year into the pandemic, as experienced by nurses who specialize in IDD nursing. We surveyed a convenience sample of 369 nurses from across North America, Europe, and Australasia using a 52-item online questionnaire. Descriptive statistics were used to rank the greatest challenges and the degree of support available to nurses, and manifest content analysis was used to analyze open-ended responses related to ongoing challenges and ameliorative strategies. Results of descriptive analyses revealed consistent findings across global regions in terms of the challenges faced by nurses; the greatest challenges related to supporting or enabling socialization with family/friends, ensuring adequate day programming or educational services, identifying/planning alternative entertainment activities, ensuring adequate staffing of familiar support workers and caregivers, and managing challenging behaviors related to change in daily routine and activities. Nurses described a considerable degree of support offered by their organizations in terms of flexibility in scheduling related to family obligations and paid time off for COVID-19-related isolation and quarantine. Content analysis of open-ended survey responses revealed numerous challenges related to: (1) client socialization, meaningful activity, and mental/behavioral health; (2) interpreting, keeping up with, and helping others to understand COVID-19 guidelines; (3) access to, quality of, and continuity of care; and (4) COVID-19 fatigue and the influence of time. Overall, our study highlights ongoing issues with access to care and support, exacerbated by the pandemic, and the importance of having meaningful activity and socialization for overall well-being of people with IDD during a long-term public health crisis

International nursing actions to reduce health inequities faced by people with intellectual and developmental disability

The impact of the COVID-19 pandemic highlighted health inequities for people with intellectual and developmental disability (PWIDD). It was also the stimulus for an international group of nurse researchers with shared expertise and experience to create a Global IDD Nursing Collaboratory. A collaboratory is a networked environment or “center without walls” where interaction oriented to common research areas occur without regard to physical location. The overarching goal of this Global Nursing Collaboratory is to assure the highest quality of life for PWIDD across the lifespan. Applying their unique skills and expertise, nurses working across health and social contexts are often the bridge over the healthcare gaps encountered by PWIDD. This paper describes the potential practice, education, and research contributions nurses can make to reduce health inequities experienced by PWIDD. We will examine how we talk about disability, the impact of the current COVID 19 crisis, and our educational systems which in some countries leave nurses and other health professionals ill prepared to meet the unique needs of this population We will describe the context, access issues, and health service organizations for and with PWIDD across countries to equip nurses with basic knowledge of health care for PWIDD and energize meaningful improvement in delivery of this care. Importantly, we offer action steps for all nurses toward reducing stigma and health inequities related to living with an intellectual and developmental disability (IDD)

Supporting the needs of people with intellectual and developmental disabilities 1 year into the COVID-19 pandemic : an international, mixed methods study of nurses' perspectives

As the largest public health crisis within a century, the COVID‐19 pandemic has caused long‐term disruption in the support systems of people with intellectual and developmental disabilities (IDD) across the globe. The purpose of this study was to investigate challenges and ameliorative strategies to supporting the basic care needs of people with IDD 1 year into the pandemic, as experienced by nurses who specialize in IDD nursing. We surveyed a convenience sample of 369 nurses from across North America, Europe, and Australasia using a 52‐item online questionnaire. Descriptive statistics were used to rank the greatest challenges and the degree of support available to nurses, and manifest content analysis was used to analyze open‐ended responses related to ongoing challenges and ameliorative strategies. Results of descriptive analyses revealed consistent findings across global regions in terms of the challenges faced by nurses; the greatest challenges related to supporting or enabling socialization with family/friends, ensuring adequate day programming or educational services, identifying/planning alternative entertainment activities, ensuring adequate staffing of familiar support workers and caregivers, and managing challenging behaviors related to change in daily routine and activities. Nurses described a considerable degree of support offered by their organizations in terms of flexibility in scheduling related to family obligations and paid time off for COVID‐19‐related isolation and quarantine. Content analysis of open‐ended survey responses revealed numerous challenges related to: (1) client socialization, meaningful activity, and mental/behavioral health; (2) interpreting, keeping up with, and helping others to understand COVID‐19 guidelines; (3) access to, quality of, and continuity of care; and (4) COVID‐19 fatigue and the influence of time. Overall, our study highlights ongoing issues with access to care and support, exacerbated by the pandemic, and the importance of having meaningful activity and socialization for overall well‐being of people with IDD during a long‐term public health crisis