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.

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.

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.