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Fragile X Syndrome (FXS)

Fragile X syndrome, alternatively called FXS, is a disease related to the gene, and the affected gene is termed the FMR1 gene. A mutation in the FMR1 gene causes the FXS disorder. This gene produces a protein known as Familial Mental Retardation Protein (FMRP). This FMRP is vital for the brain to grow and develop, but people who suffer from FXS do not develop FMRP. Although other individuals with disorders related to FXS experience alterations in their FMR1 gene, they produce some amount of FMRP.

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Fragile X syndrome is a causative factor for several developmental disorders like learning dysfunctions and cognitive impairment. Many times, masculines are more affected by the condition than feminines. Victims of this disorder often suffer from impeded speech improvement and language development. This developmental delay occurs at the age of 2.

Studies show that most males with FXS usually have light to average levels of intellectual disability. In comparison, 3 out of 10 females have intellectual impairment. Sometimes, children with the condition experience anxiety and uncontrollable behaviour like fidgeting or acting out of impulse. In some cases, they may experience Attention Deficit Disorder, also known as ADD. This disorder makes it difficult for them to pay attention for a long time and focus on one task for a while.

Research and diagnosis have shown that one out of 4 individuals with Fragile X disorder have troubles communicating and interacting socially. These troubles are signs of autism. Seizures are also present in about 17% of males and 6% of females with Fragile X disorder. 7 out of 10 males and 4 out of 10 females with this syndrome have distinct features that become more evident as they age.

Signs and Symptoms of Fragile X Syndrome

There are several features associated with FXsyndrome. Some of them include:

Sometimes, individuals with FXS have distinctive features on their faces and body parts. Some of these features include:

These facial and bodily features are often lesser in females compared to males. Instead, the females sometimes experience hardships in terms of pregnancy. Some of them often hit menopause prematurely.

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Causes of Fragile X Syndrome

An alteration in the FMR1 gene responsible for the production of FMR protein is the primary cause of Fragile X syndrome. FMR1, which can be found on the X chromosome, creates protein for the brain. Infants with FXS produce little or no amount of FMRP. Individuals with this ailment have excessive replications of CGG. CGG is a DNA constituent that replicates about 5 to 39 places in the human body. However, it replicates more than 190 times in people with Fragile X syndrome. Increased replication of CGG means a higher severity of the signs of FXS.

A female with an alteration in her FMR1 gene has a five out of ten probability of passing it on to any of her offspring. Just as males often have FXS than females, their symptoms are also more severe. This higher severity happens because the X chromosomes in females are a pair. So, if a replica of one pair alters, the other one can be healthy. But in males, the chromosomes are not in pairs, they are a single X and a single Y. So, if they have an alteration on the X chromosome, the symptoms of FXS will be evident. Although, some individuals inherit the FXS gene and do not show any signs or symptoms. These people are known as carriers, meaning the condition might be dormant in them, but they can transfer the altered gene to their offspring.

FXS Diagnosis

Primarily, medical experts perform tests on pregnant women to diagnose the unborn child of Fragile X. Some of these tests include:

After childbirth, doctors can perform a blood test to check for Fragile X disorder. They perform the test to scan for any alteration in the FMR1 gene. Although, FXS is not always evident in children born with it, beginning from childbirth. However, the medical expert can discover that the child’s head is bigger than expected. As the child grows, learning dysfunctions and behaviour disorders can set in.

FXS Treatment

Up to date, no treatment cures the ailment. Although, some medications and therapies can relieve some learning difficulties and handle behavioural disturbances. Some of these interventions include:

It is better to begin treatments early enough for better results. As a parent or a caregiver, you can participate in support groups or organisations to understand the condition and help the person more. Also, treatment programs should be created between parents, teachers, doctors, and therapists for every child.

FXS Demographic Situation

According to research, Fragile X disorder happens to about 2 in every 6,000 to 10,000 males. While in females, it occurs to about 2 in every 11,000 to 17,000 females.

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