Echo-PID : étude pilote de l’intérêt de l’échographie pulmonaire dans le diagnostic et le suivi des PID de l’enfant.

National audienc

Impact of the COVID-19 pandemic and associated lockdown measures on the management, health, and behavior of the cystic fibrosis population in France during 2020 (MUCONFIN)

International audienceBackground Most of the studies on cystic fibrosis (CF) focused on SARS-CoV-2 prevalence and suggested a low incidence of infection in this population. We aimed to assess the impact of the pandemic and related lockdown measures implemented in May 2020 in response to the first wave of SARS-CoV-2 infection on healthcare access, health, and behavior in CF patients. Methods A national questionnaire opened online from May 15th, 2020 to June 11 th , 2020 was completed by 751 CF-patients, aged 14 years and over. It comprised questions about access to healthcare, anxiety and depression, smoking, alcohol, drug and psychotropic drug consumption, adherence to CF treatment, and constraints. A semi-structured comprehensive interview was performed no later than 1 month after the end of the lockdown in 16 CF-patients. Results The mean age of the population was 28.0 [interquartile range (IQR) 20.0–37.0] years old. More than 75% of in-person consultations scheduled during the lockdown were canceled. Alternatively, 27% were postponed, and telehealth consultations were proposed and accepted in almost 40% of cases. More than 75% of the scheduled physiotherapy sessions were canceled and replaced mainly by self-drainage. Annual follow-up clinic visits were consistently postponed whereas required hospitalizations at CF centers for exacerbation were maintained in most cases. While 43.2% CF-patients had signs of anxiety, 51.0% presented symptoms of depression, both associated with increased use of psychotic medications and inversely correlated to COVID-19 prevalence. Among the lower and lower middle classes, very little medical information was obtained or requested by the patient, participation to sports or other activities was low, while excessive home confinement and isolation were more frequent. In contrast, in the upper middle and upper classes, individuals solicitated help to their CF centre, had more physical activities, and maintained contact with friends or families. Conclusion The first lockdown in France had only minimal impact on the management care of CF-patients but was associated with increased symptoms of anxiety and depression, together with behavioral changes that varied with social class. Trial registration NCT04463628

The value of multidisciplinary team meetings MDTm ) in the diagnosis and management of childhood interstitial lung disease (chILD) among the RespiRare network

Background:Childhood interstitial lung disease (chILD) is a heterogeneous group of rare and severe diseases. Epidemiological data are limited and chILD is most likely under-diagnosed. As with all rare diseases, the establishment of networksof expertise and national or international databases are crucial for increasing chILD knowledge. The first multidisciplinary team meetings (MDTm) dedicated to chILD have been set up in frame of the RespiRare network inFrance since 2018. We aim to study the contribution of MDTm in the diagnosis and management of chILD.Methods:We conducted a retrospective and descriptive study on the chILD MDTm reports from 2018 to 2022. Each meeting was attended by a quorum and by pediatric pulmonologists, radiologists, geneticists and pulmonologists (mean 13 participants). They lasted for 2 hours and were held monthly via video conference. A written report followed the meeting.Results:178 chILD cases were discussed (45% females). The median age of onset was 0.5 years [IQR 0;7]. The MDTm allowed to rectify the chILD etiology for 33% (NEHI 20.2%, surfactant disorders 8.4%, sarcoidosis 2.8%, autoimmune chILD 1.6%, other chILD 41%, undefined chILD 19.6%) and to exclude chILD for 6.2%. A therapeutic change was proposed in 43%.Discussion and conclusion:Our experience shows that a dedicated MDTm provides a unique opportunity to improve chILD etiologic diagnosis and to adapt management and therapy in chILD

Heterogeneity of lung disease associated with NK2 homeobox 1 mutations

International audienc

Clinical problems in rare interstitial lung diseases

International audienceIntroduction: Interstitial lung disease ( LD) in children (chlLD) is rare and Often severe. This study aims at analyzing the ep demiology of chlLD in France from 2000 to 2022.Methods: This study was retrospective and multicentric, A questionnaire was sent to all the RespiRare centers to collect the clinical, radiological, biological, histological and genetic data of the patients.Results: 617 patients (0-18 years) were included in 42 centers. 84 patients were excluded. The median age at diagnosis was 0.3 years with 17% of familial forms, The main investigations performed were: chest CT scan (92%), bronchoalveolar avage (52%), genetic ana ysis (78%), lung biopsy (23%). The main treatments were: corticosteroids (93%), oxygen therapy (52.2%), enteral nutrition (29%), hydroxychloroqu•ne (16%), azThromycin (26%), immunosuppressive drugs (210/0). The follovFup time was from O to 18,9 years (median duration 3,5years). The survival rate at 5 years was 68%. The overall incidence and preva ence were estimated at 38/million and 35/million children respectively.Conclusion: This arge chlLD epidemiological study confirms the Span •sh data with a higher incidence and prevalence than previous y described. The arge amount Of phenotypic data collected will allow better understanding ch LD and harmonizing their management

Clinical problems in rare interstitial lung diseases

International audienceIntroduction: Interstitial lung disease ( LD) in children (chlLD) is rare and Often severe. This study aims at analyzing the ep demiology of chlLD in France from 2000 to 2022.Methods: This study was retrospective and multicentric, A questionnaire was sent to all the RespiRare centers to collect the clinical, radiological, biological, histological and genetic data of the patients.Results: 617 patients (0-18 years) were included in 42 centers. 84 patients were excluded. The median age at diagnosis was 0.3 years with 17% of familial forms, The main investigations performed were: chest CT scan (92%), bronchoalveolar avage (52%), genetic ana ysis (78%), lung biopsy (23%). The main treatments were: corticosteroids (93%), oxygen therapy (52.2%), enteral nutrition (29%), hydroxychloroqu•ne (16%), azThromycin (26%), immunosuppressive drugs (210/0). The follovFup time was from O to 18,9 years (median duration 3,5years). The survival rate at 5 years was 68%. The overall incidence and preva ence were estimated at 38/million and 35/million children respectively.Conclusion: This arge chlLD epidemiological study confirms the Span •sh data with a higher incidence and prevalence than previous y described. The arge amount Of phenotypic data collected will allow better understanding ch LD and harmonizing their management