Learn all about the fragile X syndrome. Fragile X Syndrome is a genetic condition affecting around 1 in 3600 boys and 1 in 4000 girls worldwide.
What is Fragile X Syndrome?
Fragile X syndrome is a genetic condition affecting around 1 in 3600 boys and 1 in 4000 girls worldwide.
What causes Fragile X syndrome?
Fragile X syndrome is a caused by a mutation of the DNA. This mutation leads to a repetition of the bases CGG present on the Fragile X Mental Retardation 1 (FMR1) of the X chromosome. Abnormal multiplication of CGG bases causes a failure to manufacture the Fragile X Mental Retardation Protein (FMRP). The absence of FMRP leaves the nervous system and brain of the baby in an underdeveloped state.
What are the signs and symptoms of Fragile X syndrome?
Fragile X syndrome leads to a variety of symptoms including:
· Long face
· Extra large ears
· Super flexible finger joints
· Extremely weak muscles and loss of tone
· Flat feet (no arch under feet)
· Variable range of IQ ( from normal to severe disability)
· Features of autism, including difficulty having proper conversations.
· Social anxiety (poor eye contact and avoiding human interaction)
· Memory impairment
How is Fragile X syndrome diagnosed?
There are two ways to diagnose Fragile X syndrome:
· The signs and symptoms of this condition such as extra large ears.
· Looking the genetic makeup of the individual to figure out the number of repetitions of CGG on the X chromosome.
How is Fragile X syndrome managed?
Unfortunately there is no cure for the genetic mutation leading to Fragile X syndrome. However, the symptoms of this condition can be managed.
Management methods include:
· Medications, mood stabilisers and antidepressants are administered to reduce the anxiety and impulsiveness.
· Behavioural therapy is necessary to boost to the confidence of the individual and makes peer interaction easier.
· Speech Therapy is also recommended as children with Fragile X syndrome may have difficulties expressing themselves.
· Surgical treatment may be considered as an option for physical abnormalities.
Welcome to Babyinfo – the ultimate pregnancy and newborn information guide. We are here to help you find all the pregnancy and baby info you need to make the most beautiful experience of your life even better.
Our team is comprised of an amazing mix of experienced mothers, recently pregnant women, and editors with tremendous medical knowledge in the fields of gynaecology and childbirth.
Think of us as your friendly advisors, here to give you honest, easy to understand and authentic information. We are here to be your support at this crucial time in your life, when you need it the most.
Note: This website is in no way meant to replace doctors, hospitals, or other healthcare providers that may be utilized by current mothers or mothers-to-be. All mothers are advised to see a doctor for medical advice and the appropriate care before, during, and after pregnancy.