Early Development in Fragile X Syndrome: Implications for Developmental Screening

摘要: Abstract Fragile X syndrome (FXS), the most common inherited form of intellectual disability, is not obvious at birth. The average age diagnosis around 36 months, a figure that has remained unchanged over past decade. A primary challenge been lack definitive profile early development in FXS. This chapter reviews research conducted relevant to this question. Research severely hampered by fact absence population screening newborns, it virtually impossible identify sufficient and representative sample infants study. suggests critical neurobiological processes are almost certainly affected utero months development. Consequently, many but all males with FXS show delays during latter part first year life. statement would be less true for females premutation carriers. We predict best case scenario promoting earlier identification through regular developmental pediatric practice rapid referral genetic testing any infant delays. Even if these policies could implemented effectively, however, would, best, occur an 16–18 months. More on needed further enhance understanding clinical symptoms life, thus far appears signature will difficult identify. Population screening, such as newborn only realistic approach identifying children FMR1 gene mutations.