Pushing Pediatrics16 Sep 2025

Season 5: Evidence-Based PT Management for 22q11.2 Deletion Syndrome

If you listened to last week’s episode, we talked about our grouping strategy for genetic syndromes that you’ll need to know for the PCS exam. We had many of our listeners ask for a more in depth review too, so today’s episode will be a deep dive into the 2023 article about 22q11.2 Deletion Syndrome. We’ll be reviewing things to know for each system and bring all that knowledge together to discuss how you could see questions about this syndrome on the PCS exam and where it fits into our genetic syndrome grouping method.

Óskarsdóttir, S., Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E. J., Castelein, R. M., Chadehumbe, M., Cielo, C. M., de Reuver, S., Eliez, S., Fiksinski, A. M., Forbes, B. J., Gallagher, E., Hopkins, S. E., Jackson, O. A., Levitz-Katz, L., Klingberg, G., … McDonald-McGinn, D. M. (2023). Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genetics in medicine : official journal of the American College of Medical Genetics, 25(3), 100338. https://doi.org/10.1016/j.gim.2022.11.006

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