Testing algorithm for fragile X syndrome and FMR1-related disorders. a Adults to be considered for FMR1 molecular testing. (Adapted with permission from Saul RA, Tarleton JC. FMR1-related disorders. GeneReviews [online]. October 28, 2010. Available at: www.ncbi.nlm.nih.gov/books/NBK1384. Copyright, University of Washington, Seattle, 1997–2010.)
Health care providers should ensure that, in addition to the specific guidelines provided here, patients with fragile X syndrome are afforded the standard care for all children as outlined in the American Academy of Pediatrics “Recommendations for Preventive Pediatric Health Care.”33 ● indicates to be performed; —, not applicable.
↵a Strabismus may occur anytime between birth and 4 years of age.
↵b Serous otitis can occur throughout childhood, and the resulting hearing loss can further impair speech development. Pressure-equalizing tubes may be needed.
↵c Joint laxity, hip dislocation, or clubfoot may be seen.