De novo variants in immune regulatory genes in Down syndrome regression disorder.

Background: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD.

Analysis of the circumstances associated with death and predictors of mortality in Spanish adults with Down syndrome, 1997-2014.

Objectives: Characterise the circumstances associated with death during admission of adults with Down syndrome (DS) and to identify predictors of mortality.

Patients And Methods: Observational study based on data on all emergent admissions of adults with DS to hospitals of the Spanish National Health System between 1997 and 2014. We analysed epidemiological and clinical variables.

Takotsubo cardiomyopathy secondary to electroconvulsive therapy in a young adult with Down syndrome regression disorder.

We report the case of an 18-year-old woman with Down syndrome (DS) who developed Takotsubo cardiomyopathy (TSC) immediately after the administration of electroconvulsive therapy (ECT), a treatment prescribed for Down syndrome regression disorder resistant to oral psychotropic drugs. TSC is a nonischemic cardiomyopathy related to psychological or physical stress, which has been described as a rare complication of ECT (Kinoshita et al., 2023, Journal of Electroconvulsive Therapy, 39, 185-192).

Animating Clinical Ethics: A Structured Method to Teach Ethical Analysis Through Movies.

Movies can serve valuable didactic purposes teaching clinical ethics to medical students. However, using film sequences as means to develop critical thinking is not a straightforward task. There is a significant gap in the literature regarding how to analyse the ethical content embedded in these clips systematically, in a way that facilitates the students' transition from anecdotal reflections to abstract thinking.