There is a broad spectrum of clinical involvement throughout the generations in families affected by the fragile X mutations, both the full mutation and the premutation. A careful family history, assessment, and genetic counseling should lead to better treatments in all individuals affected by the many manifestations of these mutations. Individuals with ID, autism, ASD, neurologic problems of tremor, ataxia, neuropathy, and cognitive decline in addition to those with early menopause, infertility, and POI should be tested for the fragile X mutation. New targeted treatments give hope of reversing the ID and behavioral problems in children and adults with FXS. This review focuses on the latest research in both FXS and in premutation involvement and their treatment.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health