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Background To date, there has been no published comprehensive estimation of costs related to Prader-Willi syndrome (PWS). Our objective was therefore to provide data on the economic burden and health-related quality of life associated with PWS in France in order to raise awareness of the repercussions on individuals suffering from this syndrome and on caregivers as well as on the health and social care systems. Method A retrospective cross-sectional study was carried out on 51 individuals recruited through the French PWS patient association. Data on their demographic characteristics and resource use were obtained from an online questionnaire, and costs were estimated by a bottom-up approach. The EQ-5D-5L health questionnaire was used to measure the health-related quality of life of individuals suffering from PWS and their caregivers. Results The average annual cost of PWS was estimated at €58 890 per individual, with direct healthcare accounting for €42 299, direct non-healthcare formal costs €13 865 and direct non-healthcare informal costs €8459. The main contributors to PWS costs were hospitalisations and social services. Indirect costs resulting from loss of productivity in the labour market was €32 542 for adults suffering from PWS. Mean EQ-5D utility scores were 0.4 for individuals with PWS and 0.7 for caregivers. Conclusions Prader-Willi syndrome represents a major economic burden from a societal perspective and has a significant impact on health-related quality of life both for individuals suffering from PWS and for their caregivers in France. These results underscore the need to develop tailored policies targeted at improving care. Likewise, a larger study collecting a broader range of medical characteristics should be undertaken to achieve more precise estimations. [ABSTRACT FROM AUTHOR]

Background: Based on the observation of the misuse of ICD-10 to code the diagnoses in the RIM-P (lack of completeness, conformity and diversity), the Technical Agency for information on Hospital Care (ATIH), which provides tools for collecting medical information, conducted two actions in 2016. First, a chapter devoted to the instructions of coding has been written in the methodological guide of production of the RIM-P, second, a variable "type psy" was added to the ICD-10 nomenclature's file framing ICD-10 coding in the RIM-P. The purpose of this study is to describe the quality of diagnosis coding using ICD-10 in the RIM-P in 2015 and 2016., Methods: The quality of diagnosis coding using ICD-10 in the summaries of activity of the RIM-P national databases was described in 2015 and 2016. The study focused on the completeness, the conformity and the diversity of coding., Results: Between 2015 and 2016, the percentage of summaries without primary diagnosis ("DP") decreased slightly for full-time (5.2% vs. 3.8%), part-time (6.3% vs. 4.9%) inpatient stays and outpatient care (9.9% vs. 8.9%). ICD-10 codes used to code DP or associated diagnosis ("DA"), while prohibited, mainly belong to Chapter V Mental and behavioral disorders. Per year, only one-third of the summaries and one-half of patients had two or more ICD-10 codes reported for inpatient stays (one-fifth of the summaries and one-fourth of the patients for outpatient care). In addition, per year and per facility, the average number of distinct ICD-10 codes used to fill "DP" or "DA" was approximately half as important in part-time hospitalization, as in full-time hospitalization or for outpatient care. Moreover, 90% of the health facilities used<550 distinct ICD-10 codes in full-time inpatient stays,<270 in part-time inpatient stays and<950 for outpatient care to code the "DP" or the "DA". The diversity of ICD-10 codes used was low and similar between 2015 and 2016, especially to describe the socio-economic environment, resistance to treatment or non-compliance., Conclusion: This study emphasizes the need for a collective effort to improve the diversity of the diagnoses' coding in the RIM-P., (Copyright © 2019 Elsevier Masson SAS. All rights reserved.)

Background: French post-acute care and rehabilitation facilities describe and code their activity through the Program for Medicalization of Information Systems (PMSI). A new specific catalogue of rehabilitation procedures (CSARR) has been implemented to code rehabilitation acts since 2013. This study aimed to assess the coherence of the coding of the rehabilitation acts using the CSARR two years after its establishment through the analyze of 3 main items regarding patients and therapists., Methods: We analyzed the use of CSARR for coding rehabilitation acts from the PMSI national database for post-acute care and rehabilitation, in 2015. Analyses were made on specific items characterizing rehabilitation acts: "number of patients", "type of therapists" and "number of therapists"., Results: There were 72,014,731 rehabilitation acts coded in 2015 using CSARR nomenclature; 86% were individual rehabilitation acts. All acts of CSARR, except one, were used to describe rehabilitation activities. Physiotherapists coded the majority of rehabilitation acts (47%), then nurses (14%). Coding errors were identified as the "number of patients", coded with more than one patient for individual acts (13% of the acts) or with less than 2 patients for groups (6% of the acts), or the "number of therapists" coded with only one therapist for rehabilitation acts requiring several professionals., Conclusion: This first assessment indicated a good level of appropriation of the CSARR coding rules in the national PMSI database by post-acute care and rehabilitation facilities. However, a simplification of this catalogue and therapist training could increase the quality of the rehabilitation data., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Severe combined immunodeficiencies (SCID) are a group of inherited diseases of the immune system characterized by profound abnormalities of T-cell development. Infants with SCID require prompt clinical intervention to prevent life-threatening infection and studies show significantly improved survival in babies diagnosed at birth based on previous family history. SCID follows the criteria for population-based newborn screening because it is asymptomatic at birth and fatal within the 1st year of life if there is no intervention, the confirmation of the disease is easy, there is a curative treatment, and it is known that early hematopoietic stem cell transplantation significantly improves survival, the quality of immune reconstitution, and quality of life. Quantification of T-cell receptor excision circles (TRECs) in DNA extracted from Guthrie samples is a sensitive and specific screening test for SCID. We conducted a nationwide prospective study of neonatal screening of SCID in a population of 200,000 French newborns over a period of 2 years. The objective was to study the clinical utility and the cost-effectiveness ratio, and to demonstrate that universal SCID screening could result in a substantial benefit to detect individuals, making screening relatively cost-effective in spite of the low incidence of the disease., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)