Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy.

BACKGROUND: Spinal muscular atrophy (SMA) is a rare genetic disease with a broad spectrum of severity. Although an early diagnosis of SMA is crucial to allow proper management of patients, the diagnostic delay is still an issue. Therefore, this study aimed to investigate the clinical correlates of SMA among primary care patients. METHODS: The Health Search Database (HSD) was adopted. To estimate the prevalence and incidence rate of SMA, a cohort study was conducted on the population (aged ≥6 years) being registered in HSD from 1 January 2000 up to 31 December 2019. To investigate the clinical correlates of SMA, a nested case-control study was performed. SMA cases have been classified according to a clinically based iterative process as "certain", "probable" or "possible". To test the association between clinical correlates and SMA cases a multivariate conditional logistic regression model was estimated. RESULTS: The SMA prevalence combining "certain", "probable" and "possible" cases was 5.1 per 100,000 in 2019 (i.e. 1.12 per 100,000 when limited to "certain" cases), while the yearly incidence rate ranged from 0.12 to 0.56 cases per 100,000. Comparing "certain" cases with matched controls, the presence of neurology visits (OR = 6.5; 95% CI: 1.6-25.6) and prescription of electromyography (OR = 4.6; 95% CI: 1.1-18.7) were associated with higher odds of SMA diagnosis. CONCLUSIONS: Our findings suggest that primary care databases may be used to enhance the early identification of SMA. Additional efforts are needed to exploit the electronic health records of general practitioners to allow early recognition of SMA.

Raising awareness on physician-patient communication in IPF: an Italian multicenter study exploring the pulmonologist's perspective.

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) remains a debilitating, poor prognosis disease requiring a patient-centered approach. OBJECTIVES: To explore the pulmonologist's perspective on physician-patient communication. METHODS: A faculty of psychologists and pulmonologists organized a training course consisting of two workshops 12 months apart. Self-assessment questionnaires (pre- and post-course), role play (RP) simulations (during both workshops) and clinical consultation observations followed by semi-structured interviews (during the 12 months) were employed to evaluate the pulmonologists' knowledge of patient-centered medicine and communication/relational skills (questionnaires), their communication style (RP) and possible communication/relational difficulties (semi-structured interviews). RESULTS: Twenty-three pulmonologists attended the first workshop and 14 the second one; 10 attended both. The questionnaires revealed the interest in patient-centered medicine and communication but also the need for deeper knowledge and improved skills. From the RP sessions performed during the first workshop, a disease-oriented approach emerged; notably, after the training, some improvements suggested a more patient-centered approach, e.g., a more frequent exploration of the patient agenda. Finally, the semi-structured interviews allowed to identify the low patients' cultural level and the poor general knowledge of IPF among the barriers hampering an effective communication with the clinician, who, however, is responsible for overcoming these obstacles. CONCLUSIONS: Despite the overall disease-prone approach to IPF patients, there was room for improvement through adequate training, which, in practice, may ameliorate communication and drive towards patient-centeredness. Exploring the pulmonologists' needs may help tailoring training interventions. Raising awareness on these topics is crucial to ensure IPF patients optimal care.

Epidemiology of idiopathic pulmonary fibrosis: a population-based study in primary care.

Idiopathic pulmonary fibrosis (IPF) is a chronic disease with unknown etiology and poor prognosis. Little is known about the epidemiology of this disease; most of the studies are limited by small and restricted cohort studies. We aim to investigate the epidemiology of IPF in the Italian primary care setting using the Health Search Database (HSD) between January 2002 and June 2017. In an attempt to define cases of IPF we adopted iterative combinations of International Classification of Diseases Ninth Revision (ICD-9-CM) and other clinical investigations according to three different operational Algorithms. Incidence and prevalence rate, according to the three Algorithms defining IPF, were calculated and the association with candidate determinants [sex, age, gastro-esophageal reflux (GERD) and smoking status] was evaluated. We identified 1,104,307 eligible patients. The prevalence rate of IPF varies between 2.6 to 24.3 per 100.000 person-year, using algorithm 1 and from 0.8 to 7 using algorithm 3. The incidence rate of IPF varies between 1.25 and 3.77 per 100.000 person-years, using algorithm 1 and from 0.10 to 1.61 using algorithm 3. The mean adjusted incidence rate ratio of IPF, using algorithm 1, is 2.33 (95% CI 2.11-2.57) per 100.000 person-years. Over the study years, the trend of prevalence was statistically significantly increasing while the incidence rate started to increase in the last 3 years. The analyses on candidate determinants showed that patients aged 61 years or older, those suffering from GERD, and former smokers were statistically significantly at greater risk of incurring IPF. To our knowledge, this is one of the first European IPF epidemiological studies conducted in primary care. The increase of the incidence rates is likely due to a growing awareness for IPF among General Practitioners, while the increase of prevalence rates may be due to an increase of survival, a result of recent advances in the diagnosis, management and therapies for the disease.