Clinical Insights and Recommendations
Testing for Fragile X Syndrome
Genetic testing is recommended for individuals with autism, unexplained developmental or intellectual disabilities, or neurodevelopmental disorders (NDDs) with features suggesting a genetic condition, while first-tier testing, such as chromosomal microarray and Fragile X testing, should be initiated by non-genetics clinicians as per the Canadian College of Medical Geneticists’ 2023 guidelines.
Carrier Screening in Fragile X
Your family history can pave the way to understanding genetic risks through Fragile X Syndrome carrier screening. Identifying patterns in your family tree helps guide this important step, ensuring personalized insights and informed decision-making for you and your loved ones. Due to the complexity of interpreting FXS carrier screening results, pre- and post-test genetic counselling is essential. This information and support needed to understand the implications of the results, empowering them to make informed decisions about their care and planning.
Health Watch Fragile X Syndrome
Health Watch Table for Fragile X Syndrome offer clear, evidence-based guidelines for monitoring and managing the health of individuals with Fragile X. It highlights common medical, developmental, and behavioural concerns and provides actionable recommendations to guide proactive care.
This information empower healthcare providers and families to work together, ensuring that health needs are identified early and addressed effectively. They serve as a critical tool for improving overall well-being and quality of life for individuals .
We extend our gratitude to all the dedicated professionals and organizations who have worked tirelessly to compile and share these resources. Your efforts make a meaningful difference in supporting individuals and families impacted by Fragile X Syndrome and related conditions.
We are committed to keeping this page updated with the latest information and insights. If you have additional resources to share or need further information, please don’t hesitate to reach out. Together, we can continue building a stronger, more informed community.