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Last Posted: Feb 29, 2024
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Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023

From the article: A recent study "conducted comprehensive, best-practice clinical autism diagnostic assessments in young males (ages 15-24) with fragile X syndrome (i.e., the most common single-gene cause of autism spectrum disorder and other intellectual disabilities). The study found that, although 75 percent of participants met criteria for autism through the research protocol, only 31 percent had been identified as having autism in the community."

Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023

From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."

Fragile X Syndrome – Moving Research FORWARD
CDC, July 2023 Brand

Fragile X syndrome (FXS) is a genetic disorder that is one of the most common causes of inherited intellectual disability. FXS is rare—with fewer than 200,000 newly identified cases per year in the United States. There are still many unanswered questions about the effect of FXS on the day-to-day lives of people living with it and their families. Understanding more about the signs and symptoms of FXS can help doctors and researchers identify FXS earlier and improve the health and well-being of people with FXS.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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