Fragile X Syndrome

Definition:
Fragile X Syndrome (FXS) is a genetic disorder that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. It is the most common form of inherited intellectual disability and occurs predominantly in males.

Cause:

FXS is caused by a mutation in the FMR1 gene located on the X chromosome. This mutation results in the absence or reduced production of the fragile X mental retardation protein (FMRP), which is necessary for normal brain development and functioning.

Symptoms:

Individuals with FXS may exhibit a range of symptoms, which can vary in severity. These may include:

• Intellectual Disability: Most individuals with FXS have some degree of intellectual disability, ranging from mild to severe.
• Behavioral Challenges: FXS can cause hyperactivity, impulsivity, attention deficit, social anxiety, and autism spectrum disorders.
• Physical Characteristics: Common physical features include a long face, large ears, prominent jaw, and high forehead. Some individuals may also have connective tissue problems, such as flat feet and joint hypermobility.

Diagnosis:

Diagnosis of FXS involves genetic testing to detect the presence of the FMR1 gene mutation. It is typically confirmed through a blood sample. Newborn screening for FXS is not routine, so diagnosis usually occurs after symptoms become apparent.

Treatment and Management:

While there is no cure for FXS, early intervention and targeted therapies can help manage symptoms and improve quality of life. These may include special education programs, speech and language therapy, occupational therapy, and behavioral interventions. Medications can also be prescribed to address specific symptoms.