Identification of a male with fragile X syndrome through newborn screening

摘要: A pilot newborn screening (NBS) study for fragile X syndrome was recently conducted at the University of California, Davis Medical Center. The identified a case male with full mutation completely methylated and no detectable expression mental retardation-1 (FMR1) gene. patient initially seen in clinic MIND Institute, medical follow-up genetic counseling session chronological age 3 months. Since then, he has been every six months follow up, examination developmental assessments. Longitudinally administered testing infant revealed persistent delays development, consistent syndrome. Cascade that patient's mother two siblings also have mutation. receiving speech language therapy, combined physical occupational therapies on weekly basis since one year. He is currently being treated 2.5 mg sertraline, which demonstrated to be helpful improving young children