Fragile X Syndrome
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What is Fragile X syndrome?
Fragile X syndrome (FXS) is the most prevalent genetic form of intellectual disability and autism spectrum disorder, primarily affecting boys. As with most neurodevelopmental disorders, FXS is considered a condition of synaptic development and function. The disease has a range of clinical presentations depending on the specific genetic changes associated with an "expansion" of the FMR1 gene. Large expansions are considered FXS "full mutations" with the full range of symptoms. Smaller expansions are considered FXS "premutations" which are associated with other neurologic and endocrine disruptions.
The mutation in the FMR1 gene on the X chromosome leads to atypical gene methylation and silencing, resulting in a decrease in the FMRP protein. The disease is characterized by deficits in long-term potentiation and homeostatic plasticity. Anavex Life Sciences is developing therapies to restore cellular and synaptic homeostasis by targeting multiple signaling pathways.
Signs & Symptoms
Individuals with FXS are at increased risk of cognitive impairment, physical changes, and behavioral symptoms such as anxiety, Attention-deficit/hyperactivity disorder (ADHD) features, self-injurious behavior, aggression, irritability, and repetitive behavior.
Sensitivity to Sound
FXS is a leading genetic cause of autism.
Additionally, many individuals with FXS display autistic traits, meeting diagnostic criteria for autism spectrum disorder (ASD).
FXS has been detected in all populations and ethnic groups. Researchers do not know the exact number for how many Americans could have full mutation FXS. Studies estimate that the disease affects approximately 1:4,000 males and 1:6,000-8,000 females. Worldwide, more than 1,400,000 people could be affected by FXS.