Fragile X Syndrome in children

Area of Science:

• Genetics
• Neuroscience
• Developmental Biology

Background:

• Fragile X syndrome is a leading monogenic cause of intellectual disability and autism spectrum disorder.
• It stems from CGG triplet expansions in the FMR1 gene, leading to gene silencing and FMRP protein absence.
• This absence causes cellular dysfunction, impacting brain development and resulting in physical and neurological abnormalities.

Purpose of the Study:

• To highlight the genetic basis and clinical manifestations of Fragile X syndrome.
• To emphasize the importance of early diagnosis and molecular confirmation.
• To advocate for a multidisciplinary approach in managing Fragile X syndrome.

Main Methods:

• Review of genetic mechanisms underlying Fragile X syndrome.
• Analysis of clinical and neurological presentations.
• Discussion of diagnostic criteria and intervention strategies.

Main Results:

• Fragile X syndrome is characterized by FMR1 gene silencing due to CGG expansions.
• Clinical manifestations include neurodevelopmental delay, intellectual disability, and autism spectrum disorder.
• Early identification and intervention significantly improve functional prognosis.

Conclusions:

• Fragile X syndrome diagnosis should be considered in patients with neurodevelopmental delay.
• Molecular testing is essential for confirmation.
• A multidisciplinary healthcare approach is vital for optimizing quality of life for affected individuals and their families.