“What’s New in 22q”, a podcast produced by Stephan Eliez for 22q11 Europe, is now available on our YouTube channel.
This podcast explores the many dimensions of 22q11 syndrome through the lens of the latest scientific research.
Whether you're a parent, healthcare professional, researcher, or directly affected, "What's New in 22q" offers a space for information and support to better understand the daily life and challenges associated with 22q11.
Here are the episodes already available on our youtube channel
Episode 8 - Vitamin B12 on Brain Metabolism in 22q11 DS
- Featured Research Article: Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12 (2024)
- Abstract: The brain-related phenotypes observed in 22q11.2 deletion syndrome (DS) patients are highly variable, and their origin is poorly understood. Changes in brain metabolism might contribute to these phenotypes, as many of the deleted genes are involved in metabolic processes, but this is unknown. This study shows for the first time that Tbx1 haploinsufficiency causes brain metabolic imbalance and how vitamin B12 treatment can rescue a behavioural anomaly in Tbx1+/2 mice.
- Reference : Caterino, M., Paris, D., Torromino, G., Costanzo, M., Flore, G., Tramice, A., Golini, E., Mandillo, S., Cavezza, D., Angelini, C., Ruoppolo, M., Motta, A., De Leonibus, E., Baldini, A., Illingworth, E., & Lania, G. (2024). Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12. Life Science Alliance, 7(11), e202403075. https://doi.org/10.26508/lsa.202403075
Episode 9 - Unraveling Psychosis: The Hippocampus Connection
- Featured Research Article: How does altered function of the hippocampus contribute to the development of psychosis?
- Abstract: In this episode, we dive deep into the fascinating and critical role of hippocampal dysfunction in the development of psychosis, particularly through the lens of 22q11.2 deletion syndrome (22q11DS). Did you know that 22q11DS is one of the strongest known genetic risk factors for schizophrenia, with approximately 20% of affected individuals developing psychosis by adulthood? Join us as we explore how this neurogenetic disorder offers unique translational insights into the pathophysiology of psychosis.
- Reference : Mancini V., Delavari F., Eom T.-Y., Zakharenko S.S., Schmitt E. & Eliez S., How does altered function of the hippocampus contribute to the development of psychosis?, Biological Psychiatry (2025), doi: https://doi.org/10.1016/j.biopsych.20....
Episode 10 - Understanding Epilepsia and 22q11 deletion
- Featured Research Article: 1) Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome 2) Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study 3) Neurological manifestation of 22q11.2 deletion syndrome
- Abstract: In this episode, we will focus on epilepsy referencing several newly published papers on the topic. The 22q11.2 deletion syndrome (22q11.2DS) presents with very diverse clinical manifestations, including significant neuropsychiatric symptoms and a high frequency of epilepsy, affecting more than 11% of patients. A recent multicenter study published in Epilepsia provided a detailed description of generalized epilepsy in these patients. Generalized tonic-clonic seizures and myoclonic seizures were the most frequent, often occurring together. They usually began during adolescence, with a morning predominance, and electroencephalograms (EEGs) typically showed irregular generalized spike-wave discharges. Most patients achieved remission with antiseizure medication, with only 4% showing drug resistance, but 75% relapsed after treatment withdrawal, suggesting a persistent susceptibility despite a good therapeutic response. The study also showed that patients with generalized epilepsy more often had intellectual disability and lower IQ scores. Psychosis appeared to be more frequent in this group, but the association was not confirmed after further analyses, while skeletal abnormalities were less frequent. Finally, patients with generalized epilepsy more often had a family history of epilepsy, even in cases of de novo deletion, while no differences were observed regarding the size or location of the deletion itself. These findings suggest that additional genetic factors, beyond the 22q11.2 deletion, contribute to the development of epilepsy in this syndrome, through a polygenic mechanism also proposed for other neuropsychiatric disorders such as schizophrenia.
- Reference : 1) Zhang, M. W., Bustros, S. T., Gaston, T. E., Descartes, M., & Agnihotri, S. P. (2024). Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome. The Neurohospitalist, 14(3), 273-277. https://doi.org/10.1177/1941874424122... 2) Cerulli Irelli, E., Fanella, M., Chaumette, B., Putotto, C., Mignot, C., Mazzeo, A., Lemke, J. R., Riva, A., Accinni, T., Louveau, C., Giovannetti, A., Pugnaloni, F., Gavaret, M., Di Fabio, F., Fortunato, F., Dorn, T., Ferlazzo, E., Gambardella, A., Ramantani, G., … Di Bonaventura, C. (2024). Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study. Epilepsia. https://doi.org/10.1111/epi.18220 3) Bayat, M. (2022). Neurological manifestation of 22q11.2 deletion syndrome. Neurological Sciences, 43(1), 3–13. https://doi.org/10.1007/s10072-021-05...