A team of clinicians and researchers from the 22q11.2 Society, led by Dr. Sólveig Óskarsdóttir recently published updated clinical practice recommendations for children and adolescents with 22q11.2 deletion syndrome. This comprehensive two-year effort, involving experts from 9 countries and 24 subspecialties, offers valuable guidance to healthcare providers and families. They conducted a thorough review of 1,545 peer-reviewed articles, ensuring evidence-based care. Insights from family support organisations were also included.
This modern guide helps assess and manage physical, cognitive, behavioural, and emotional challenges linked to the syndrome. Intended for healthcare professionals like general practitioners, cardiologists, and psychiatrists, it’s a valuable resource. The article is freely accessible online, making it easy to share with healthcare providers or bring to appointments, ensuring everyone stays up-to-date on the best practices for caring for people with the syndrome.
Boot, E., Óskarsdóttir, S., Loo, J. C., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., … & Bassett, A. S. (2023).
Updated clinical practice recommendations for managing adults with 22q11. 2 deletion syndrome. Genetics in Medicine, 100344.
Remember the guidelines developed for kids with 22q11.2 deletion syndrome? There are also new guidelines for adults with the syndrome, also written by a group of clinicians and researchers from the 22q11.2 Society. The writing of this paper was led by Dr. Erik Boot, a Dutch physician specialising in intellectual disability medicine.
The process was the same for this guideline, that is they completed a systematic review (which included 894 relevant studies), a needs survey, shared their expertise and experience and wrote a lot.
The aim of the guide is to help healthcare professionals provide evidence-based care by focusing on the issues that are most relevant to adults. You can find the article for free online and it’s a good idea to share the link with your healthcare providers or even print it out to bring to your next appointment. That way, everyone can stay up-to-date on the best ways to take care of adults with the syndrome.
Óskarsdóttir, S., Boot, E., Crowley, T. B., Loo, J. C., Arganbright, J. M., Armando, M., … & McDonald-McGinn, D. M. (2023).
Updated clinical practice recommendations for managing children with 22q11. 2 deletion syndrome. Genetics in Medicine, 100338.
