New 22q11 Europe Podcast : Episodes 17, 18 and 19

Episode 17 - Impulsivity, Childhood Obesity, and Psychosis Risk in 22q1

• Featured Research Article: Chronic early-life obesity linked to childhood impulsivity predicts long-term psychosis trajectory through dose-dependent cerebellar dysmaturation in 22q11.2 Deletion Syndrome.
• Abstract: This podcast is a about an article detailing a longitudinal study investigating the relationship between chronic early-life obesity, childhood impulsivity, and the trajectory of psychosis in individuals with 22q11.2 Deletion Syndrome (22q11DS), a high-risk genetic model. The research hypothesizes and finds that behavioral impulsivity in childhood predicts atypical BMI trajectories in 22q11DS subjects, suggesting that the genetic risk for obesity is mediated by this behavior. Crucially, the authors report a dose-dependent relationship where prolonged high BMI status mediates the link between early impulsivity and later psychosis vulnerability, specifically through cerebellar gray matter volume reductions in posterior-inferior regions, which are tied to worsening disorganization symptoms. The findings suggest that targeting early metabolic trajectories could serve as a preventative intervention for psychosis in genetically vulnerable populations.
• Reference: Sandini, C., Reich, N., Delavari, F., Pajic, L., Escelsior, A., Forrer, S., Imparato, A., Kojovic, N., Latreche, C., Parlatini, V., Cortese, S., Schneider, M., & Eliez, S. (2025, February 14). Chronic early-life obesity linked to childhood impulsivity predicts long-term psychosis trajectory through dose-dependent cerebellar dysmaturation in 22q11.2 Deletion Syndrome [Preprint]. https://doi.org/10.1101/2025.02.13.25...

Episode 18 - Neuroleptic Efficacy in 22q11.2 Deletion Psychosis

• Abstract: These sources collectively discuss the effectiveness and safety of psychotropic medications—specifically antipsychotics and antidepressants—in individuals with 22q11.2 deletion syndrome (22q11.2DS), a genetic condition associated with high rates of psychiatric morbidity. Several studies, including retrospective analyses and a small double-blind randomized controlled trial, suggest that these medications may be effective for managing symptoms like psychosis and mood or anxiety disorders, sometimes at lower than typical doses. However, the literature also emphasizes the increased vulnerability of 22q11.2DS patients to serious adverse effects, particularly from antipsychotics like clozapine, which has been linked to higher risks of seizures, neutropenia, and myocarditis. Overall, the papers underscore the need for careful monitoring and further research, especially rigorous randomized trials, to establish syndrome-specific guidelines for treatment and side effect management, particularly given the condition's multisystem nature.

Episode 19 - Guidelines for managing children with 22q11DS

• Featured Research Article: Guidelines for managing children with 22q11DS
• Abstract: The goal of clinical recommendations is to provide guidance for comprehensive evaluation, surveillance, and management, emphasizing a multidisciplinary and family-centered approach. This synthesis resume in this episode is specifically oriented toward the management of children and adolescents with 22q11.2DS, drawing on published clinical practice guidelines.