Fragile XE syndrome, or FRAXE, is a condition that leads to mild to moderate intellectual disability, developmental delays, and behavioral problems.
Common developmental delays in people with FRAXE include difficulties with speech, reading, and writing. Some may also have behavioral issues like aggression, obsessive-compulsive disorder, and hyperactivity. In some cases, individuals may have seizures even without developmental delays. Unlike some other conditions, FRAXE usually doesn’t cause any noticeable physical features.
There is no cure for fragile XE syndrome, but early intervention and support services can help. Children may benefit from special education classes, speech therapy, occupational therapy, and behavioral therapies. Doctors might also prescribe medication to manage behavioral problems like aggression, anxiety, or hyperactivity.
FRAXE is caused by pathogenic variants in the AFF2 gene that exhibit X-linked recessive inheritance. This means that one pathogenic variant is enough to cause the disease in both individuals assigned male at birth (who have one X chromosome and one Y chromosome) and individuals assigned female at birth (who have two X chromosomes) may experience symptoms depending on how many copies of the X chromosome that has the pathogenic variant are turned on in the cells.
Resources:
National Organization for Rare Disorders
Written August 2024
