Fragile X syndrome (FXS) in children
What is fragile X syndrome (FXS) in children?
Fragile X syndrome (FXS) is caused by a mutation of a single gene FMR and is a genetic or hereditary disorder passed down from parent to child. FXS is the most common cause of inherited intellectual and developmental disabilities.
Factores de riesgo
Afecta tanto a varones como a mujeres, aunque es más frecuente y más grave en los varones.
- Males - approximately 1 in 4,000 to 1 in 7,000
- Females - approximately 1 in 6,000 to 1 in 11,000
What are the signs and symptoms of fragile X syndrome (FXS) in children?
Signs that a child might have FXS include not meeting developmental milestones, such as sitting, walking, and talking, on time, trouble learning new skills, social problems, such as not making eye contact, and behavior problems (e.g., anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and high levels of activity).
FXS is a common cause of autism spectrum disorders (ASD).
- Males who have FXS may also have an intellectual disability that can range from mild to severe.
- Females with FXS can have normal intelligence or some degree of intellectual disability.
How is fragile X syndrome (FXS) diagnosed?
Doctors can perform blood tests to determine whether your child has FXS. FXS is a family diagnosis, so it is important for all family members to be tested.
How is fragile X syndrome (FXS) treated?
No existe una cura conocida para el SXF. Sin embargo, varias terapias y servicios pueden ayudar a las personas a aprender habilidades importantes, como caminar, hablar e interactuar con los demás, para vivir una vida mejor.
Important services may include:
- Special education programs
- TO (terapia ocupacional)
- FT (fisioterapia)
- Terapia del habla y el lenguaje
- Terapia conductual
- Orientación genética
- Manejo de medicamentos
