COVID-19 Health Crisis and Chronic Illness: Protocol for a Qualitative Study.

BACKGROUND: The acute nature of the COVID-19 pandemic has put a strain on health resources that are usually dedicated to chronic illnesses. Resulting changes in care practices and networks have had major repercussions on the experience of people with chronic disorders. OBJECTIVE: This paper presents the protocol of the Parcours, Associations, Réseau, Chronicité, Organisation, Usagers, Retour d'expérience, Soins (PARCOURS)-COVID study. The aim of this study is to evaluate the effects of reorganization of the health system on the usual care network of patients with chronic illness, which fosters and qualifies the quality and continuum of care provided. The first objective of this study is to document these patients' experiences through transformations and adaptations of their network, both in the practical dimension (ie, daily life and care) and subjective dimension (ie, psychosocial experience of illness and relationship to the health system). The second objective of the study is to understand and acknowledge these reorganizations during the COVID-19 lockdown and postlockdown periods. The third objective is to produce better adapted recommendations for patients with chronic illness and value their experience for the management of future health crisis. METHODS: The PARCOURS-COVID study is a qualitative and participatory research involving patient organizations as research partners and members of these organizations as part of the research team. Three group of chronic diseases have been selected regarding the specificities of the care network they mobilize: (1) cystic fibrosis and kidney disease, (2) hemophilia, and (3) mental health disorders. Four consecutive phases will be conducted, including (1) preparatory interviews with medical or associative actors of each pathology field; (2) in-depth individual interviews with patients of each pathology, analyzed using the qualitative method of thematic analysis; (3) results of both these phases will then be triangulated through interviews with members of each patient's care ecosystem; and finally, (4) focus groups will be organized to discuss the results with research participants (ie, representatives of chronic disease associations; patients; and actors of the medical, psychosocial, and family care network) in a research-action framework. RESULTS: The protocol study has undergone a peer review by the French National Research Agency's scientific committee and has been approved by the research ethical committee of the University of Paris (registration number: IRB 00012020-59, June 28, 2020). The project received funding from August 2020 through April 2021. Expected results will be disseminated in 2021 and 2022. CONCLUSIONS: Our findings will better inform the stakes of the current health crisis on the management of patients with chronic illness and, more broadly, any future crisis for a population deemed to be at risk. They will also improve health democracy by supporting better transferability of knowledge between the scientific and citizen communities. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/28728.

Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.

BACKGROUND: Deletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound intellectual disability, severely delayed or absent speech, and autism spectrum disorders (ASD). Better knowledge of the clinical spectrum of SHANK3 haploinsufficiency is useful to facilitate clinical care monitoring and to guide molecular diagnosis, essential for genetic counselling. CASE PRESENTATION: Here, we report a detailed clinical description of a 10-year-old girl carrying a pathogenic interstitial 22q13.3 deletion encompassing only the first 17 exons of SHANK3. The clinical features displayed by the girl strongly suggested the diagnosis of dementia infantilis, described by Heller in 1908, also known as childhood disintegrative disorder. CONCLUSION: Our present case confirms several observations according to which regression may be part of the clinical phenotype of SHANK3 haploinsufficiency. Therefore, we think it is crucial to look for mutations in the gene SHANK3 in patients diagnosed for childhood disintegrative disorder or any developmental disorder with a regressive pattern involving social and communicative skills as well as cognitive and instinctual functions, with onset around 3 years.

Patient information, consents and privacy protection scheme for an information system dedicated to pervasive developmental disorders.

Patients explicit and unambiguous information, patients consents and privacy protection are reviewed in this article, in the frame of the deployment of the information system TEDIS dedicated to autism spectrum disorders. The role of the Delegate to the Protection of Data is essential at this stage. We developed a privacy protection scheme based on storing encrypted patients personal data on the server database and decrypting it on the Web browser. It tries to respond to the end-users request to manage nominative data in a human readable form and to meet with privacy protection framework.