What’s New in 22q - Podcast Episode 15 - Managing 22q11.2 Deletion Syndrome in Adults

Описание: 🎙️ Podcast Description:
This podcast focus at recent scientific studies about 22q11.2 Deletion Syndrome. Together, we break down research that helps us better understand different parts of this complex syndrom.

🧠 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...