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Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.

ABSTRACT: Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening program to identify children at high risk for NMDs within the first 30 months of life. The Promoting Early Diagnosis for Neuromuscular Disorders (PEDINE) project implemented a three-step sequential screening in an area of about 300,000 people with (1) an assessment of the motor development milestones to identify "red flags" for NMDs by primary care pediatricians (PCPs) as part of the routine Health Status Check visits; (2) for the children who screened positive, a community neuropsychiatric assessment, with further referral of suspected NMD cases to (3) a hospital-based specialized tertiary care center. In the first-year feasibility study, a total of 10,032 PCP visits were conducted, and twenty children (0.2% of the total Health Status Check visits) screened positive and were referred to the community neuropsychiatrist. Of these, four had elevated creatine kinase (CK) serum levels. This pilot study shows that screening for NMDs in primary care settings is feasible and allows children at high risk for muscular disorder to be promptly identified.

SUBMITTER: Ricci FS

PROVIDER: S-EPMC9317909 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundCommunity-dwelling older people are frequently affected by vertigo, dizziness and balance disorders (VDB). We previously developed a care pathway (CPW) to improve their mobility and participation by offering standardized approaches for general practitioners (GPs) and physical therapists (PTs). We aimed to assess the feasibility of the intervention, its implementation strategy and the study procedures in preparation for the subsequent main trial.MethodsThis 12-week prospective cohort feasibility study was accompanied by a process evaluation designed according to the UK Medical Research Council's Guidance for developing and evaluating complex interventions. Patients with VDB (≥65 years), GPs and PTs in primary care were included. The intervention consisted of a diagnostic screening checklist for GPs and a guide for PTs. The implementation strategy included specific educational trainings and a telephone helpline. Data for mixed-method process evaluation were collected via standardized questionnaires, field notes and qualitative interviews. Quantitative data were analysed using descriptive statistics, qualitative data using content analysis.ResultsA total of five GP practices (seven single GPs), 10 PT practices and 22 patients were included in the study. The recruitment of GPs and patients was challenging (response rates: GP practices: 28%, PT practices: 39%). Ninety-one percent of the patients and all health professionals completed the study. The health professionals responded well to the educational trainings; the utilization of the telephone helpline was low (one call each from GPs and PTs). Familiarisation with the routine of application of the intervention and positive attitudes were emphasized as facilitators of the implementation of the intervention, whereas a lack of time was mentioned as a barrier. Despite difficulties in the GPs' adherence to the intervention protocol, the GPs, PTs and patients saw benefit in the intervention. The patients' treatment adherence to physical therapy was good. There were minor issues in data collection, but no unintended consequences.ConclusionAlthough the process evaluation provided good support for the feasibility of study procedures, the intervention and its implementation strategy, we identified a need for improvement in recruitment of participants, the GP intervention part and the data collection procedures. The findings will inform the main trial to test the interventions effectiveness in a cluster RCT.Trial registrationProjektdatenbank Versorgungsforschung Deutschland (German registry Health Services Research) VfD_MobilE-PHY_17_003910, date of registration: 30.11.2017; Deutsches Register Klinischer Studien (German Clinical Trials Register) DRKS00022918, date of registration: 03.09.2020 (retrospectively registered).

Project description:To test a collaborative care model for interfacing sleep specialists with primary care providers to enhance patients' sleep disorders management.This study used a randomized, parallel group, clinical intervention trial design. A total of 137 adult (29 women) VA outpatients with sleep complaints were enrolled and randomly assigned to (1) an intervention (INT) consisting of a one-time consultation with a sleep specialist who provided diagnostic feedback and treatment recommendations to the patient and the patient's primary care provider; or (2) a control condition consisting of their usual primary care (UPC). Provider-focused outcomes included rates of adherence to recommended diagnostic procedures and sleep-focused interventions. Patient-focused outcomes included measures taken from sleep diaries and actigraphy; Pittsburgh Sleep Quality Index (PSQI) scores; and self-report measures of sleepiness, fatigue, mood, quality of life, and satisfaction with health care.The proportions of provider-initiated sleep-focused interventions were significantly higher in the INT group than in the UPC group for polysomnography referrals (49% versus 6%; P < 0.001) and mental health clinic referrals (19% versus 6%; P = 0.02). At the 10-mo follow up, INT recipients showed greater estimated mean reductions in diary total wake time (-17.0 min; 95% confidence interval [CI]: -30.9, -3.1; P = 0.02) and greater increases in sleep efficiency (+3.7%; 95% CI: 0.8, 6.5; P = 0.01) than did UPC participants. A greater proportion of the INT group showed ? 1 standard deviation decline on the PSQI from baseline to the 10-mo follow-up (41% versus 21%; P = 0.02). Moreover, 69% of the INT group had normal (? 10) Epworth Sleepiness Scale scores at the 10-mo follow-up, whereas only 50% of the UPC group fell below this clinical cutoff (P = 0.03).A one-time sleep consultation significantly increased healthcare providers' attention to sleep problems and resulted in benefits to patients' sleep/wake symptoms.This study is registered with clinicaltrials.gov with identifier # NCT00390572.

Project description:BackgroundRegular screening reduces mortality from colorectal cancer (CRC). The Canton of Vaud, Switzerland, has a regional screening programme offering faecal immunochemical tests (FITs) or colonoscopy. Participation in the screening programme has been low, particularly among complex patients. Patient navigation has strong evidence for increasing the CRC screening rate.Design and objectiveThis feasibility study tested patient navigation performed by medical assistants for complex patients at an academic primary care practice.Baseline measurementsA review of 328 patients' medical charts revealed that 51% were up-to-date with screening (16% within the programme), 24% were ineligible, 5% had a documented refusal and 20% were not up-to-date, of whom 58 (18%) were complex patients. INTERVENTION FEBRUARY 2023 TO MAY 2023: We tried to help complex patients participate in the screening programme using either in-person or telephone patient navigation. Each intervention was piloted by a physician-researcher and then performed by a medical assistant. Based on the reach, effectiveness, adoption, implementation, maintenance framework, we collected: Intervention participation and refusal, screening acceptance and completion and both patients and medical assistant acceptability (ie, qualitative interviews).ResultsOnly 4/58 (7%) patients participated in the in-person patient navigation test phase due to scheduling problems. All four patients accepted a prescription and 2/4 (50%) completed their test. We piloted a telephone intervention to bypass scheduling issues but all patients refused a telephone discussion with the medical assistant. At two months after the last intervention, the proportion of patients up-to-date increased from 51% to 56%.ConclusionOur overall approach was resource-intensive and had little impact on the overall participation rate. It was likely not sustainable. New approaches and reimbursement for a specific patient navigator role are needed to increase CRC screening of complex patients.

Project description:In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. A national strategy was adopted during a period of 1 to 2months concerning treatments usually administered in hospitalization. NM patients treated with steroid/immunosuppressants for a dysimmune pathology should continue all of their treatments in the absence of any manifestations suggestive of COVID-19. A frequently asked questions (FAQ) sheet has been compiled and updated on the FILNEMUS website. Various support systems for self-rehabilitation and guided exercises have been also provided on the website. In the context of NM diseases, particular attention must be paid to two experimental COVID-19 treatments, hydroxycholoroquine and azithromycin: risk of exacerbation of myasthenia gravis and QT prolongation in patients with pre-existing cardiac involvement. The unfavorable emergency context related to COVID-19 may specially affect the potential for intensive care admission (ICU) for people with NMD. In order to preserve the fairest medical decision, a multidisciplinary working group has listed the neuromuscular diseases with a good prognosis, usually eligible for resuscitation admission in ICU and, for other NM conditions, the positive criteria suggesting a good prognosis. Adaptation of the use of noninvasive ventilation (NIV) make it possible to limit nebulization and continue using NIV in ventilator-dependent patients.

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Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study.

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