Fragile X Syndrome

Autism spectrum disorder (ASD) and other intellectual disabilities have become a hot button topic in both medicine and the news as of late, with recent questions about the multifactorial causes of intellectual disabilities, including genetics. Developmental-Behavioral Pediatrician Dr. Kendall Abbas is joined by Liliana Amirhosseini and Zoe Gunthert, two fourth year medical students, to discuss presentation, diagnosis, and management of Fragile X, the most common inherited cause of intellectual disability. Specifically, they will Explain the genetics and pathophysiology leading to the Fragile X phenotype Discuss the clinic characteristics associated with Fragile X, allowing for prompt evaluation and management of the symptoms Share treatment plans and resources available for those with Fragile X and their families Special thanks to Dr. Rebecca Yang and Dr. Sarah Straka for peer reviewing this episode. Free CME available: Link for CME Credit References: Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile X syndrome: Findings from a national parent survey. 2009 Aug;124(2):527-533. Hunter JE, Berry-Kravis E, Hipp H, et al. FMR1 Disorders. 1998 Jun 16 [Updated 2024 May 16]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1384/. Mendez A, Mendez M. Fragile X Syndrome: A Review for General Pediatricians. Pediatr Ann. 2024;53(7):e269-e271. doi:10.3928/19382359-20240502-08 Malecki, C., Hambly, B.D., Jeremy, R.W. et al. The RNA-binding fragile-X mental retardation protein and its role beyond the brain. Biophys Rev 12, 903–916 (2020). https://doi.org/10.1007/s12551-020-00730-4. National Fragile X Foundation. Prevalence. https://fragilex.org/understanding-fragile-x/fragile-x-101/prevalence/. Sirois CL, Guo Y, Li M, et al. CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons. Cell Rep. 2024;43(6):114330. doi:10.1016/j.celrep.2024.114330 Spector, Elaine et al. Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2021;23(5): 799 - 812. doi: 1038/s41436-021-01115-y .