New 22q11 Europe Podcast : Episodes 14, 15 and 16

Episode 14 - Clozapine Use in 22q11.2 DS.

• Featured Research Article: Clozapine Use in 22q11.2 Deletion Syndrome
• Abstract: This podcast focuses on the use of clozapine for treating psychosis in individuals with 22q11.2 deletion syndrome, a genetic disorder with a high risk for developing schizophrenia. The review analyzed twenty-six articles detailing fifty-seven patients, most of whom had treatment-resistant schizophrenia. The findings indicate that these individuals may benefit from clozapine therapy, often at a relatively low dose, with a majority of reported cases showing a good or partial response. However, the source emphasizes the increased risk of serious adverse effects, particularly seizures and neutropenia, which often occurred even with low clozapine doses. Consequently, the authors recommend prophylactic anticonvulsant use, screening for hypoparathyroidism/hypocalcemia, and routine monitoring of clozapine blood levels when prescribing this medication to this vulnerable population.
• Reference: Colijn, M. A. (2024). Clozapine use in 22q11.2 deletion syndrome: A systematic review of the literature. *Journal of Clinical Psychopharmacology, 44*(2), 168-178. https://doi.org/10.1097/JCP.000000000...

Episode 15 - Managing 22q11.2 Deletion Syndrome in Adults

• Featured Research Article: Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome" by Erik Boot et al., published in 2023 in Genetics in Medicine.
• Abstract: Today in What’s new in 22q, we share updated clinical guidelines for adults living with 22q11.2 deletion syndrome, developed by experts from eight countries, to help improve care for our growing adult community. These updated guidelines encourage regular follow-up and a multisystem approach, since health needs can change over time. For families, this means that even in adulthood, attention to health remains important, with checkups for the heart, calcium levels, thyroid, weight, and screening for conditions like diabetes, hearing loss, and mental health challenges. Mental health deserves special care, as anxiety and psychosis are more common in adults with 22q11.2DS, but these conditions can be treated. Neurological conditions like seizures and early Parkinson’s may also occur, and ongoing monitoring can help detect and manage these changes. Genetic counseling remains important for adults and their families, to understand recurrence risks and support informed choices about the future. Planning the transition from pediatric to adult care step by step, ideally starting during adolescence, can help address health, education, work, and independent living in a supportive way. Despite the challenges, adults with 22q11.2DS can live fulfilling lives. The guidelines highlight the need for more research on aging with 22q11.2DS so that care can continue to improve, and remind us that care should focus on maximizing well-being while minimizing harm.
• Reference: Boot, E., Óskarsdóttir, S., Loo, J. C. Y., et al. (2023). Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine, 25(3), 100344. https://doi.org/10.1016/j.gim.2022.11...

Episode 16 - Congenital Heart Disease in 22q11.2

• Featured Research Article: Congenital Heart Disease in 22q11.2
• Abstract: The provided text is an excerpt from a systematic review and meta-analysis titled "Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature" which investigates the prevalence of specific congenital heart defects (CHDs) in individuals with 22q11.2 deletion syndrome (22q11.2DS). The authors conducted a comprehensive search of medical literature to find studies focusing exclusively on 22q11.2DS, ultimately including seven studies for their meta-analysis. The study calculated pooled prevalence rates for several CHDs, finding tetralogy of Fallot (TOF) to be the most common at 20%, followed by ventricular septal defect (VSD) at 14%. The findings emphasize the significantly elevated risk of CHDs in the 22q11.2DS population compared to the general population, highlighting the critical need for cardiovascular screening in these patients and genetic testing for 22q11.2DS in cases of congenital heart disease.
• Reference: Sauter C, Hofbeck M, Franz P, Kettenstock L, Steger K, Linhardt M, Reiter A, Störk S, Romanos M, Radtke F. Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature. J Med Genet. 2025 Oct 20;62(11):700-708. doi: 10.1136/jmg-2025-110624.