Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language deficits, movement disorders, epilepsy, sleep disturbances, attention problems, anxiety, and obsessive-compulsive traits. Current treatment options for SSADHD remain supportive, but there are ongoing attempts to develop targeted genetic therapies. This study aimed to create consensus guidelines for the diagnosis and management of SSADHD. Thirty relevant statements were initially addressed by a systematic literature review, resulting in different evidence levels of strength according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) criteria. The highest level of evidence (level A), based on randomized controlled trials, was unavailable for any of the statements. Based on cohort studies, Level B evidence was available for 12 (40%) of the statements. Thereupon, through a process following the Delphi Method and directed by the Appraisal of Guidelines for Research and Evaluation (AGREE II) criteria, expert opinion was sought, and members of an SSADHD Consensus Group evaluated all the statements. The group consisted of neurologists, epileptologists, neuropsychologists, neurophysiologists, metabolic disease specialists, clinical and biochemical geneticists, and laboratory scientists affiliated with 19 institutions from 11 countries who have clinical experience with SSADHD patients and have studied the disorder. Representatives from parent groups were also included in the Consensus Group. An analysis of the survey's results yielded 25 (83%) strong and 5 (17%) weak agreement strengths. These first-of-their-kind consensus guidelines intend to consolidate and unify the optimal care that can be provided to individuals with SSADHD.

"Anxiety, COVID, Burnout and Now Depression": a Qualitative Study of Primary Care Clinicians' Perceptions of Burnout.

BACKGROUND: Clinician burnout has become a major issue in the USA, contributing to increased mental health challenges and problems with quality of care, productivity, and retention. OBJECTIVE: The objective of this study was to understand primary care clinicians' perspectives on burnout during the COVID-19 pandemic as well as their perspectives on the causes of burnout and strategies to improve clinician well-being. APPROACH: This qualitative research involved in-depth interviews with 27 primary care clinicians practicing in a range of settings across the USA. Semi-structured interviews lasted between 60 and 90 min and were conducted using Zoom video conferencing software between July 2021 and February 2023. Transcripts were analyzed in NVivo software using multiple cycles of coding. KEY RESULTS: Clinicians shared their experiences with burnout and mental health challenges during the COVID-19 pandemic. Contributors to burnout included high levels of documentation, inefficiencies of electronic health record (EHR) systems, high patient volume, staffing shortages, and expectations for responding to patient emails and telephone calls. The majority of participants described the need to work after clinic hours to complete documentation. Many clinicians also discussed the need for health system leaders to make sincere efforts to enhance work-life balance and create a culture of health and well-being for health professionals. Suggested strategies to address these issues included supportive leadership, accessible mental health services, and additional administrative time to complete documentation. CONCLUSIONS: The results of this study provide an in-depth view of participating primary care clinicians' experiences and perceptions of burnout and other mental health challenges. These viewpoints can improve awareness of the issues and strategies to improve the health and well-being of our clinician workforce. Strategies include aligning payment models with the best approaches for delivering quality patient care, reducing administrative burden related to documentation, and redesigning EHR systems with a human factors approach.

Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.

Succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare disorder of GABA metabolism, presents with significant neurodevelopmental morbidity. Although there is a growing interest in the concept of quality of life through patient reports as a meaningful outcome in rare disease clinical trials, little is known about the overall impact of SSADHD from the patient/family perspective. The purpose of this study was to determine issues related to quality of life and patient/family experience through a focus group discussion with family caregivers of patients with SSADHD. The discussion included the input of 5 family caregivers, and highlighted concerns related to physical function, cognitive and intellectual function, psychological and behavioral function, social function, and family impact. These themes represent appropriate starting points in the development of a quality-of-life survey that may serve as a meaningful clinical tool in future studies of SSADHD.

Empowering Patients to Start a Conversation: 5 Questions to Ask about Your Medications.

This quality improvement initiative to help prevent known medication-related failures during transitions of care was co-led by Patients for Patient Safety Canada, the Institute for Safe Medication Practices Canada, the Canadian Patient Safety Institute, the Canadian Pharmacists Association, and the Canadian Society for Hospital Pharmacists. Initially, the intervention was to develop, test, evaluate and disseminate a medication safety "checklist" for patients and healthcare providers. Through small tests of change, the checklist was redesigned as the "5 Questions to Ask about Your Medications." Collective results demonstrate a shared commitment among more than 200 organizations to empower patients with questions to ask about their medications.

Medical Assistance in Dying: A Review of Canadian Nursing Regulatory Documents.

Canada's legalization of Medical Assistance in Dying (MAiD) in 2016 has had important implications for nursing regulators. Evidence indicates that registered nurses perform key roles in ensuring high-quality care for patients receiving MAiD. Further, Canada is the first country to recognize nurse practitioners as MAiD assessors and providers. The purpose of this article is to analyze the documents created by Canadian nursing regulatory bodies to support registered nurse and nurse practitioner practice in the political context of MAiD. A search of Canadian provincial and territorial websites retrieved 17 documents that provided regulatory guidance for registered nurses and nurse practitioners related to MAiD. Responsibilities of registered nurses varied across all documents reviewed but included assisting in assessment of patient competency, providing information about MAiD to patients and families, coordinating the MAiD process, preparing equipment and intravenous access for medication delivery, coordinating and informing health care personnel related to the MAiD procedure, documenting nursing care provided, supporting patients and significant others, and providing post death care. Responsibilities of nurse practitioners were identified in relation to existing legislation. Safety concerns cited in these documents related to ensuring that nurses understood their boundaries in relation to counseling versus informing, administering versus aiding, ensuring safeguards were met, obtaining informed consent, and documenting. Guidance related to conscientious objection figured prominently across documents. These findings have important implications for system level support for the nursing role in MAiD including ongoing education and support for nurses' moral decision making.

A Tool for the Concise Analysis of Patient Safety Incidents.

BACKGROUND: Patient safety incidents, sometimes referred to as adverse events, incidents, or patient safety events, are too common an occurrence in health care. Most methods for incident analysis are time and labor intensive. Given the significant resource requirements of a root cause analysis, for example, there is a need for a more targeted and efficient method of analyzing a larger number of incidents. Although several concise incident analysis tools are in existence, there are no published studies regarding their usability or effectiveness. METHODS: Building on previous efforts, a Concise Incident Analysis (CIA) methodology and tool were developed to facilitate analysis of no- or low-harm incidents. Staff from 11 hospitals in five countries-Australia, Canada, Hong Kong, India, and the United States-pilot tested the tool in two phases. The tool was evaluated and refined after each phase on the basis of user perceptions of usability and effectiveness. RESULTS: From September 2013 through January 2014, 52 patient safety incidents were analyzed. A broad variety of incident types were investigated, the most frequent being patient falls (25%). Incidents came from a variety of hospital work areas, the most frequent being from the medical ward (37%). Most incidents investigated resulted in temporary harm or no harm (94%). All or most sites found the tool "understandable" (100%), "easy to use" (89%), and "effective" (89%). Some 95% of participants planned to continue to use all or some parts of the tool after the pilot. Qualitative feedback suggested that the tool allowed analysis of incidents that were not currently being analyzed because of insufficient resources. The tool was described as simple to use, easy to document, and aligned with the flow of the incident analysis. CONCLUSION: A concise tool for the investigation of patient safety incidents with low or no harm was well accepted across a select group of hospitals from five countries.

Standardization in patient safety: the WHO High 5s project.

QUALITY PROBLEM: Despite its success in other industries, process standardization in health care has been slow to gain traction or to demonstrate a positive impact on the safety of care. INTERVENTION: The High 5s project is a global patient safety initiative of the World Health Organization (WHO) to facilitate the development, implementation and evaluation of Standard Operating Protocols (SOPs) within a global learning community to achieve measurable, significant and sustainable reductions in challenging patient safety problems. GOALS: The project seeks to answer two questions: (i) Is it feasible to implement standardized health care processes in individual hospitals, among multiple hospitals within individual countries and across country boundaries? (ii) If so, what is the impact of standardization on the safety problems that the project is targeting? METHOD: The two key areas in which the High 5s project is innovative are its use of process standardization both in hospitals within a country and in multiple participating countries, and its carefully designed multi-pronged approach to evaluation. STATUS: Three SOPs-correct surgery, medication reconciliation, concentrated injectable medicines-have been developed and are being implemented and evaluated in multiple hospitals in seven participating countries. Nearly 5 years into the implementation, it is clear that this is just the beginning of what can be seen as an exercise in behavior management, asking whether health care workers can adapt their behaviors and environments to standardize care processes in widely varying hospital settings.

Broadening the patient safety agenda to include safety in long-term care.

The recent patient safety literature has included less of an emphasis on long-term settings than on research in the acute care sector. Recognizing this knowledge gap in our understanding of safety in the long-term care sector, the Canadian Patient Safety Institute, Capital Health (Edmonton) and CapitalCare (Edmonton) have collaborated to create a research and action agenda for improving resident safety in Canadian long-term care settings. This collaboration resulted in the development of a background paper highlighting the current state of the science and 14 key-informant interviews with stakeholders across Canada. The background paper subsequently informed an invitational round-table discussion. Key findings from the key-informant interviews as well as implications for research are described in this article.

Thinking ecologically for safer healthcare: a summer research student partnership.

As leaders for nursing education, nursing research, healthcare administration and patient safety, we asked one another: How do we use our collective resources to build health system capacity for clinically based research training and safer healthcare? Drawing on knowledge from the field of ecological restoration, which is the study and repair of damaged ecosystems, we partnered the Safer Systems research program of the Faculty of Nursing, University of Alberta, with Capital Health's Royal Alexandra Hospital (RAH), the Caritas Health Group, the Canadian Patient Safety Institute (CPSI) and several funding agencies to provide hands-on training in clinical research, infection control and patient safety policy development for nursing students during the summer months. As we plan ahead, our student and staff evaluations show that together, we can make concrete, vital contributions to student education, nursing research, evidence-informed practice, clinical quality improvement and national policy. We are using what we have learned to continually expand the range of undergraduate, graduate and post-doctoral clinical learning opportunities in healthcare safety that are available year round. Our shared goal is to support current and future nurses in leading the way for safer healthcare systems and the safest possible healthcare.

Broadening the patient safety agenda to include home care services.

Caring for an individual in the home is inherently complex. The physical environment, family dynamics and the cognitive abilities of the client and family members are only a few of the factors to be considered in delivering services. Although targeted initiatives have been established to reduce preventable injuries and deaths in the hospital sector, there has not been a corresponding level of research or patient safety initiatives in other healthcare delivery sectors. A coordinated and collaborative approach to generate new knowledge pertaining to safety in home care in Canada has therefore been undertaken by the Canadian Patient Safety Institute (CPSI), VON Canada, and Capital Health (Edmonton). Actions included the development of a background paper (Lang and Edwards 2006) that informed an invitational roundtable discussion, where key safety issues in home care were identified and priority actions discussed. Over 40 individuals from across Canada participated, reflecting various disciplinary and organizational affiliations in the delivery of home care services. This paper describes key findings from the background paper, outcomes from the ensuing roundtable discussions and implications for practice, research and policy.