What is Fragile X Syndrome?
Fragile X Syndrome is an inherited genetic condition, more common in males than females, that results from a mutation or a change in a single gene (chromosome X). This form of chromosome abnormality can result in social, physical, and psychological problems. This syndrome can also be referred to as: Fragile X, FRAXA Syndrome, FXS, and more.
Etiology - Genetics of Fragile XFragile X Syndrome comes in two forms: premutation and full mutation. Premutation results from 55-200 CGG repeats, whereas full mutation is 200+. Individuals with premutation may have the same behavioural symptoms but in a milder form compared to those with full mutation. Those with full mutation have an inability to produce FMRP (Fragile X Mental Retardation Protein), and this protein influences physical symptoms, emotional status, adaptive behaviours, and cognitive abilities.
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StatisticsFragile X Syndrome is the most common inherited cause of intellectual disability (ID) and the most common genetic cause of Autism Spectrum Disorder (ASD). This syndrome affects more males than females, with ADHD being found in majority of males, and in 30% females. 30% of those with Fragile X Syndrome have ASD symptoms.
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Life with Fragile X Syndrome
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