Factors affecting patients' journey with primary healthcare services during mental health-related sick leave.

CONTEXT: Best practice guidelines for the recovery and return to work (RTW) of people with mental disorders recommend access to the services of an interdisciplinary team combining pharmacological, psychological and work rehabilitation interventions. In the Canadian context, primary healthcare services are responsible for providing these services for people with common mental disorders, such as depressive or anxiety disorders. However, not everyone has easy access to these recommended primary healthcare services, and previous studies suggest that multiple personal, practice-related and organizational factors can influence the patient's journey. Moreover, previous studies documented that family physicians often work in silos and lack the knowledge and time needed to effectively manage by themselves patients' occupational health. Thus, the care and service trajectories of these patients are often suboptimal and can have important consequences on the person's recovery and RTW. OBJECTIVE AND POPULATION STUDIED: Our study aimed to gain a better understanding of the patient journeys and the factors influencing their access to and experience with primary healthcare services while they were on sick leave due to a common mental disorder. METHODS: A descriptive qualitative research design was used to understand and describe these factors. Conventional content analysis was used to analyze the verbatim. RESULTS: Five themes describe the main factors that influenced the patient's journey of the 14 participants of this study: (1) the fragmented interventions provided by family physicians; (2) patients' autonomy in managing their own care; (3) the attitude and case management provided by the insurer, (4) the employer's openness and understanding and (5) the match between the person's needs and their access to psychosocial and rehabilitation services. CONCLUSIONS: Our findings highlight important gaps in the collaborative practices surrounding the management of mental health-related sick leave, the coordination of primary healthcare services and the access to work rehabilitation services. Occupational therapists and other professionals can support family physicians in managing sick leaves, strengthen interprofessional and intersectoral collaboration and ensure that patients receive needed services in a timelier manner no matter their insurance coverage or financial needs. PATIENTS OF PUBLIC CONTRIBUTION: This study aimed at looking into the perspective of people who have lived or are currently experiencing a sick leave related to a mental health disorder to highlight the factors which they feel hindered their recovery and RTW. Additionally, two patient partners were involved in this study and are now engaged in the dissemination of the research results and the pursuit of our team research programme to improve services delivered to this population.

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

OBJECTIVES: To compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables. STUDY DESIGN: Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history. RESULTS: The average age at initial evaluation and treatment was significantly younger in patients ascertained via abnormal NBS compared with those referred for clinical symptoms. Furthermore, the majority of individuals ascertained because of abnormal NBS were asymptomatic at diagnosis, compared with a minority of clinical presentations. A notable difference in the frequency of metabolic acidosis at initial presentation was observed between those with abnormal NBS (12.5%; 2 of 16) and those with an abnormal clinical presentation (79%; 19 of 24). The frequency of hyperammonemia was similar in the 2 groups. CONCLUSION: Our data support the continued value of NBS to identify individuals with PA, who are diagnosed and treated earlier than for other modes of ascertainment. There were no statistically significant correlations between genotype and NBS for C3 acylcarnitines. Although expanded use of NBS has allowed for early diagnosis and treatment, long-term outcomes of individuals with PA, especially with respect to mode of ascertainment, remain unclear and would benefit from a longitudinal study.

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).

The Inborn Errors of Metabolism Collaborative (IBEMC) includes clinicians from 29 institutions collecting data to enhance understanding of metabolic conditions diagnosable by newborn screening. Data collected includes hospitalizations, test results, services, and long-term outcomes. Through evaluation of this data, we sought to determine how frequently genetic counseling had been provided, how often genetic testing was performed, and also determine the consanguinity rate in this population. A data query was performed with the following elements abstracted/analyzed: current age, metabolic condition, whether genetic counseling was provided (and by whom), whether genetic testing was performed, and consanguinity. Genetic counseling was provided to families 95.8% of the time and in 68.6% of cases by a genetic counselor. Genetic testing was performed on 68.0% of subjects, with usage highest for fatty-acid-oxidation disorders (85.1%). The rate of consanguinity was 2.38%. Within this large national collaborative there is a high frequency of genetic counseling, though in one-third of cases a genetic counselor has not been involved. Additionally, while metabolic conditions have historically been diagnosed biochemically, there is currently high utilization of molecular testing suggesting DNA testing is being incorporated into diagnostic assessments - especially for fatty-acid-oxidation disorders where the underlying genotype helps predict clinical presentation.

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

PURPOSE: The Inborn Errors of Metabolism Information System (IBEM-IS) collects data on the clinical history of inborn errors of metabolism (IBEMs). The IBEM-IS is accessible to metabolic clinics nationwide and seeks to (i) influence clinical management of affected individuals and (ii) provide information to support public health decision making. METHODS: Thirty centers in 21 states are enrolling persons with newborn-screened conditions, collecting information on diagnosis and treatment at the time of enrollment and all subsequent visits. Prospective data are collected using electronic capture forms allowing aggregation of information regarding outcomes for individuals affected with IBEMs. RESULTS: A total of 1,893 subjects have been enrolled in the IBEM-IS, and more than 540,000 individual data points have been collected. Data collection has been initiated for subjects with 41 of 46 conditions on the recommended uniform screening panel; 4 conditions have more than 100 subjects enrolled. Median follow-up time for subjects with more than one visit (n = 898) is 1.5 years (interquartile range = 2.2 years). Subjects with critical conditions are more likely to have emergency letters and sick-day plans. Mortality was exclusive to children with critical conditions. CONCLUSION: Large-scale prospective data can be collected for individuals with rare conditions, permitting enhanced decision making for clinical management and supporting decision making in public health newborn screening programs.Genet Med 18 12, 1276-1281.

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

INTRODUCTION: There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening. METHODS: Retrospective analysis of comprehensive data from a cohort of 221 newborn-screened subjects identified as affected with MCADD in the Inborn Errors of Metabolism - Information System (IBEM-IS), a long term follow-up database of the Inborn Errors of Metabolism Collaborative, was performed. RESULTS: The average age at notification of first newborn screen results to primary care or metabolic providers was 7.45days. The average octanoylcarnitine (C8) value on first newborn screen was 11.2µmol/L (median 8.6, range 0.36-43.91). A higher C8 level correlated with an earlier first subspecialty visit. Subjects with low birth weight had significantly lower C8 values. Significantly higher C8 values were found in symptomatic newborns, in newborns with abnormal lab testing in addition to newborn screening and/or diagnostic tests, and in subjects homozygous for the c.985A>G ACADM gene mutation or compound heterozygous for the c.985A>G mutation and deletions or other known highly deleterious mutations. Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation. C8 and genotype category were significant predictors of the likelihood of having neonatal symptoms. Neonates with select triggers were more likely to have symptoms and laboratory abnormalities. CONCLUSIONS: This collaborative study is the first in the United States to describe health associations of a large cohort of newborn-screened neonates identified as affected with MCADD. The IBEM-IS has utility as a platform to better understand the characteristics of individuals with newborn-screened conditions and their follow-up interactions with the health system.

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

INTRODUCTION: 3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities. METHOD: All available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed for markers that might be predictive of outcome. RESULTS: A limited number of cases were identified with traditional biochemical symptoms including acidosis, hyperammonemia or lactic acidosis, and 15% of those with available developmental information had recorded developmental disabilities not clearly attributable to other causes. There was no correlation between newborn screening (NBS) C5OH level and presence of metabolic, newborn, later-life or developmental abnormalities in these cases. DISCUSSION: This sample, obtained from the IBEM-IS database, attempts to avoid some of the ascertainment bias present in retrospective studies. An increase in developmental abnormalities and in traditionally described metabolic symptoms remains apparent, although no specific biochemical markers appear predictive of outcome. The role that prevention of fasting plays in outcome cannot be ascertained. These data suggest that C5OH level found on newborn screening by itself is not sufficient for diagnostic or predictive purposes.

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform Screening Panel (RUSP) in the United States. The Inborn Errors of Metabolism Information System (IBEM-IS) was established in 2007 to collect longitudinal information on individuals with inborn errors of metabolism included in newborn screening (NBS) programs, including VLCAD deficiency. We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1-18years. Maternal prenatal symptoms were not reported, and most newborns remained asymptomatic. Cardiomyopathy was uncommon in the cohort, diagnosed in 2/52 cases. Elevations in creatine kinase were a common finding, and usually first occurred during the toddler period (1-3years of age). Diagnostic evaluations required several testing modalities, most commonly plasma acylcarnitine profiles and molecular testing. Functional testing, including fibroblast acylcarnitine profiling and white blood cell or fibroblast enzyme assay, is a useful diagnostic adjunct if uncharacterized mutations are identified.

Insurance coverage of medical foods for treatment of inherited metabolic disorders.

PURPOSE: Treatment of inherited metabolic disorders is accomplished by use of specialized diets employing medical foods and medically necessary supplements. Families seeking insurance coverage for these products express concern that coverage is often limited; the extent of this challenge is not well defined. METHODS: To learn about limitations in insurance coverage, parents of 305 children with inherited metabolic disorders completed a paper survey providing information about their use of medical foods, modified low-protein foods, prescribed dietary supplements, and medical feeding equipment and supplies for treatment of their child's disorder as well as details about payment sources for these products. RESULTS: Although nearly all children with inherited metabolic disorders had medical coverage of some type, families paid "out of pocket" for all types of products. Uncovered spending was reported for 11% of families purchasing medical foods, 26% purchasing supplements, 33% of those needing medical feeding supplies, and 59% of families requiring modified low-protein foods. Forty-two percent of families using modified low-protein foods and 21% of families using medical foods reported additional treatment-related expenses of $100 or more per month for these products. CONCLUSION: Costs of medical foods used to treat inherited metabolic disorders are not completely covered by insurance or other resources.

Spontaneous Scaling of a Primary Care Innovation in Real-Life Conditions: Protocol for a Case Study.

BACKGROUND: Scaling effective primary care innovations to benefit more people is of interest to decision makers. However, we know little about how promising innovations are being scaled "spontaneously," that is, without deliberate guidance. OBJECTIVE: We aim to observe, document, and analyze how, in real-life conditions, 1 primary care innovation spontaneously scales up across Quebec, Canada. METHODS: We will conduct a participative study using a descriptive single-case study. It will be guided by the McLean and Gargani principles for scaling and reported according to the COREQ (Consolidated Criteria for Reporting Qualitative Research) guidelines. Informed by an integrated knowledge translation approach, our steering committee will include patient users throughout the project. Inspired by the Quebec College of Family Physician's "Dragons' Den" primary care program, we will identify a promising primary care innovation that is being or will be scaled spontaneously. We will interview the innovation team about their scaling experiences every month for 1 year. We will conduct interviews and focus groups with decision makers, health care providers, and end users in the innovation team and the target site about their experience of both scaling and receiving the scaled innovation and document meetings as nonparticipant observers. Interview transcripts and documentary data will be analyzed to (1) compare the spontaneous scaling plan and implementation with the McLean and Gargani principles for scaling and (2) determine how it was consistent with or diverged from the 4 McLean and Gargani guiding principles: justification, optimal scale, coordination, and dynamic evaluation. RESULTS: This study was funded in March 2020 by the Canadian Institutes of Health Research. Recruitment began in November 2023 and data collection began in December 2023. Results are expected to be published in the first quarter of 2024. CONCLUSIONS: Our study will advance the science of scaling by providing practical evidence-based material about scaling health and social care innovations in real-world settings using the 4 guiding principles of McLean and Gargani. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/54855.

Scaling Up Citizen Workshops in Public Libraries to Disseminate and Discuss Primary Care Research Results: Quasi-Experimental Study.

BACKGROUND: Little is known about engaging patients and stakeholders in the process of scaling up effective knowledge translation interventions targeting the public. OBJECTIVE: Using an integrated knowledge translation approach, we aimed to scale up and evaluate an effective pilot program to disseminate research results in public libraries. METHODS: We conducted a scaling-up study targeting the public. On the basis of our successful pilot project, we codeveloped and implemented a large-scale program of free citizen workshops in public libraries, in a close research partnership with stakeholders and patient representatives. Citizen workshops, each facilitated by 1 participating physician and 1 science communicator, consisted of a 45-minute computer-assisted presentation and a 45-minute open exchange. The intervention outcome was knowledge gained. The scale-up outcomes were satisfaction, appropriateness, coverage, and costs. An evaluation questionnaire was used to collect data of interest. Both quantitative and qualitative analyses were performed. RESULTS: The workshop theme chosen by the patient and stakeholder representatives was the high prevalence of medication overuse among people aged ≥65 years. From April to May 2019, 26 workshops were conducted in 25 public libraries reaching 362 people. The mean age of participants was 64.8 (SD 12.5) years. In total, 18 participating physicians and 6 science communicators facilitated the workshops. Participants reported significant knowledge gain (mean difference 2.1, 95% CI 2.0-2.2; P<.001). The median score for overall public satisfaction was 9 out of 10 (IQR 8-10). The public participants globally rated the workshops as having a high level of appropriateness. Coverage was 92% (25/27) of the total number of public libraries targeted. Costs were CAD $6051.84 (US $4519.69) for workshop design and CAD $22,935.41 (US $17,128.85) for scaling them up. CONCLUSIONS: This project successfully established a large-scale and successful implementation science or knowledge translation bridge among researchers, clinicians, and citizens via public libraries. This study provides a model for a dissemination practice that benefits the public by both engaging them in the dissemination process and targeting them directly.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25­30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

Neonatal vitamin A deficiency and its impact on acute respiratory infections among preschool Inuit children.

OBJECTIVE: To assess if vitamin A concentration in umbilical cord blood is associated with incidence and severity of respiratory infections in preschool Inuit children from Nunavik (Québec, Canada). METHOD: The medical charts of 305 children were reviewed from 0 to 5 years of age. The association between vitamin A concentration in umbilical cord plasma and the incidence rates of acute otitis media (AOM), lower respiratory tract infections (LRTIs) and hospitalization rates for LRTIs was evaluated using Poisson regression. RESULTS: Compared to children with vitamin A concentration > or =20 microg/dl, adjusted rate ratios (RR) for children below 20 microg/dl ranged between 1.06-1.62 for AOM, 1.12-1.34 for LRTIs, and 1.09-1.43 for hospitalization for LRTIs. Most RRs were statistically significant for AOM and LRTIs, but not for hospitalization for LRTIs. CONCLUSION: Neonatal vitamin A deficiency appears to be a significant risk factor for AOM and LRTIs in this population.

Postoperative pain management: the challenges of the patient with Crohn's disease.

Crohn's disease is a chronic inflammatory disorder of the digestive tract that tends to plague its victims with uncontrolled pain, despite numerous pharmacologic interventions. Approximately 70% of affected individuals require surgery during their disease trajectory, and management of both their chronic and acute pain can be a challenge for nurses. The many factors that contribute to these pain management challenges are described, and recommendations for nursing interventions are offered.

Can patients be trained to expect shared decision making in clinical consultations? Feasibility study of a public library program to raise patient awareness.

INTRODUCTION: Shared decision making (SDM) is a process whereby decisions are made together by patients and/or families and clinicians. Nevertheless, few patients are aware of its proven benefits. This study investigated the feasibility, acceptability and impact of an intervention to raise public awareness of SDM in public libraries. MATERIALS AND METHODS: A 1.5 hour interactive workshop to be presented in public libraries was co-designed with Quebec City public library network officials, a science communication specialist and physicians. A clinical topic of maximum reach was chosen: antibiotic overuse in treatment of acute respiratory tract infections. The workshop content was designed and a format, whereby a physician presents the information and the science communication specialist invites questions and participation, was devised. The event was advertised to the general public. An evaluation form was used to collect data on participants' sociodemographics, feasibility and acceptability components and assess a potential impact of the intervention. Facilitators held a post-workshop focus group to qualitatively assess feasibility, acceptability and impact. RESULTS: All 10 planned workshops were held. Out of 106 eligible public participants, 89 were included in the analysis. Most participants were women (77.6%), retired (46.1%) and over 45 (59.5%). Over 90% of participants considered the workshop content to be relevant, accessible, and clear. They reported substantial average knowledge gain about antibiotics (2.4, 95% Confidence Interval (CI): 2.0-2.8; P < .001) and about SDM (4.0, 95% CI: 3.4-4.5; P < .001). Self-reported knowledge gain about SDM was significantly higher than about antibiotics (4.0 versus 2.4; P < .001). Knowledge gain did not vary by sociodemographic characteristics. The focus group confirmed feasibility and suggested improvements. CONCLUSIONS: A public library intervention is feasible and effective way to increase public awareness of SDM and could be a new approach to implementing SDM by preparing potential patients to ask for it in the consulting room.

End-of-life care in a nursing home: a study of family, nurse and healthcare aide perspectives.

AIM: To examine the perspectives of family members, registered nurses and healthcare aides regarding the last 72 hours of Canadian nursing home residents' lives. STUDY DESIGN: Exploratory, descriptive design using semistructured interviews. SAMPLE: Consisted of 14 registered nurses and eight healthcare aides who had provided care within the last 72 hours before a resident's death and four family members who had visited within the same time frame. SETTING: A 220-bed nursing home located within a larger long-term care facility in Canada. METHODS: Thematic analysis was conducted independently and through consensus identified themes and subthemes emerging from the interviews. FINDINGS: Dyspnea was a more common end-of-life (EoL) symptom for nursing home residents in this sample than was pain. Caring behaviours of staff were central to the resident's dying process and involved assessment, coordination of care, physical care, family education and nurture. Family members' ambivalence about the resident's death and fear of the resident dying alone were frequently noted. CONCLUSIONS: Appropriate and timely symptom management and a range of caring behaviours of staff are critical elements in the dying experience of nursing home residents. Additional education and support for personnel involved with caring for this group will enhance end-of-life care.