The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study.

The management of patients with rare diseases (RD) presents many challenges including diagnosis, coordination of care, and orientation in the health system. For these patients, the general practitioner (GP) is not always the referring physician. The aim of this study was to determine the place of the GP in management of patients with RD. We used a qualitative study by case-study. From March to October 2020, semi-structured interviews were conducted by telephone with the families of adult patients with RD and intellectual disability, and with the health professionals involved in their management. Patients were recruited through RD reference centres, patient associations or GPs. The interviews were transcribed and analysed by two independent investigators. A grounded theory-based analysis was performed. Eight case studies were conducted with 20 participants. Our results highlighted the trajectory of the patients through the development of the career of the primary informal caregiver. The caregivers developed skills required for the management of the care recipient. Within this trajectory, the GP found his place depended on the skills he could provide, their interest in the disease, the skills developed by the caregiver, and the caregiver/care recipient needs. The GP was mostly consulted for routine care and administrative procedures, but when a trusting relationship was established, they also accompanied the patient and their family by providing appropriate medical, social or psychological support. The GP will be all the more a privileged actor in the care process that he will be involved in the coordination of all other actors, professional as non-professionals.

Nocturnal hypertension in primary care patients with high office blood pressure: A regional study of the MAPAGE project.

Nocturnal hypertension (NH) is an independent cardiovascular risk factor. We aimed to describe the frequency of NH among primary care hypertensive patients and to analyze NH determinants. This observational, cross-sectional, multicenter study enrolled the patients of 23 general practitioners in Burgundy region, France. We included the first patient of the day with office blood pressure ≥ 140/90 mm Hg, whatever the reason for consultation. All included patients had 24-hour ambulatory blood pressure monitoring (ABPM). Nocturnal hypertension was considered nighttime mean blood pressure ≥ 120/70 mm Hg, as per current guidelines. Medical, sociodemographic, and deprivation data were collected. Nocturnal hypertensive and non-hypertensive patients were compared. The determinants of NH were identified using logistic regression models. From July 2015 to November 2018, 447 patients were analyzed. Mean office blood pressure was 158.6/91.5 mm Hg, and 255 patients (57.0%) were taking at least one antihypertensive drug. Among the 409 (91.5%) valid ABPM, 316 (77.3%) showed NH. In multivariate analyses, male sex (odds ratio [OR] = 2.20, 95% confidence interval [CI] 1.29-3.75), first office diastolic blood pressure >100 mm Hg (OR = 5.71, 95% CI 1.53-21.40), and current smoking (OR = 5.91, 95% CI 2.11-16.56) were independent predictors of NH. Obesity was associated with a reduced risk of NH (OR = 0.43, 95% CI 0.25-0.75). No association was found between deprivation status or sociodemographic factors and NH. To conclude, NH was identified in more than three out of four patients with high office blood pressure. Male smokers with high diastolic blood pressure were most affected by NH. ABPM may improve hypertension management in these patients.

Validity of ambulatory blood pressure monitoring in daily primary healthcare practice in France.

OBJECTIVE: The objective of the study was to assess 24-h ambulatory blood pressure monitoring (ABPM) validity in daily primary healthcare practice in France. PATIENTS AND METHODS: An observational, longitudinal, prospective, multicenter study was performed in the Burgundy region, France. Participants were patients who had been prescribed ABPM by their general practitioner (GP), whatever its indication. ABPM was performed by employees of the healthcare providers group, which is publicly funded. The validity of ABPM was established according to the European Society of Cardiology (ESC) criteria. GPs interpretation of the ABPM results was collected and compared with the ESC recommendations. Determinants of ABPM validity were identified using logistic regression models. RESULTS: Among the 531 patients included, 357 (67.23%) had a valid ABPM measurement. Multivariate analyses showed that ABPM validity was associated with nonmanual worker status [odds ratio (OR)=1.14; 95% confidence interval (CI)=1.04-1.23], participant's age of at least 65 years (OR=0.88; 95% CI=0.81-0.95) and participant's BMI above 30 kg/m (OR=0.90; 95% CI=0.81-0.99). GPs' interpretation of ABPM results was consistent with the ESC recommendation in 508 (95.67%) cases. CONCLUSION: ABPM is feasible in daily primary healthcare practice in the studied condition, that is to say relying on trained employees. GPs should be careful when prescribing ABPM to patients aged 65 years and older, to those with BMI over 30 or to manual workers.

Asthma exacerbations and socio-economic status in French adults with persistent asthma: A prospective cohort study.

INTRODUCTION: Adults disadvantaged by poor socio-economic status (SES) are more severely affected by asthma compared to those with better SES. We aimed to determine whether the frequency of asthma exacerbations (AEx), as well as aspects related to AEx management, differed based on SES in patients treated with daily treatments. METHODS: This study, part of the prospective observational cohort ASTRO-LAB, included French adult patients with persistent asthma. Patients were considered as low SES if they benefited from publicly funded special health insurance and/or were perceived as low SES by their general practitioner. AEx was defined as at least one of the following: asthma-related oral corticosteroid course, medical contact, hospitalization, and death. We examined associations between SES and AEx frequency, perceived triggering factors and type of medical contact after AEx. RESULTS: In our sample of 255 patients, 11.40% were considered as low SES. Patients with low SES did not report significantly more AEx than medium/high SES patients during one-year follow-up (0.79 versus 0.55, p = 0.38). The type of medical contact during AEx differed significantly between the two groups (p = 0.03): patients with medium/high SES consulted their general practitioner more frequently (OR = 2.23, 95% CI = 0.91-5.50, p = 0.08) and were less likely to visit an emergency department or be hospitalized (OR = 0.27, 95% CI = 0.09-0.84, p = 0.02). CONCLUSIONS: AEx frequency did not differ significantly between low and medium/high SES patients, but differences were found in the management of AEx. Studies are needed to better understand the relation between precariousness and management of asthma.

Health-Related Quality of Life Is Severely Affected in Primary Orthostatic Tremor.

BACKGROUND: Primary orthostatic tremor (POT) is a movement disorder characterized by unsteadiness upon standing still due to a tremor affecting the legs. It is a gradually progressive condition with limited treatment options. Impairments in health-related quality of life (HQoL) seem to far exceed the physical disability associated with the condition. METHODS: A multi-center, mixed-methodology study was undertaken to investigate 40 consecutive patients presenting with POT to four movement disorder centers in France. HQoL was investigated using eight quantitative scales and a qualitative study which employed semi-structured interviews. Qualitative data were analyzed with a combination of grounded-theory approach. RESULTS: Our results confirm that HQoL in POT is severely affected. Fear of falling was identified as the main predictor of HQoL. The qualitative arm of our study explored our initial results in greater depth and uncovered themes not identified by the quantitative approach. CONCLUSION: Our results illustrate the huge potential of mixed methodology in identifying issues influencing HQoL in POT. Our work paves the way for enhanced patient care and improved HQoL in POT and is paradigmatic of this modern approach for investigating HQoL issues in chronic neurological disorders.