What is Fragile X Syndrome?

Fragile X Syndrome is a gene-based mental impairment that is passed down through families.  It is brought on by shifts, mistakes, or mutations in a particular gene, all of which have the potential to be handed down from one generation to the next. People of any and every race, ethnicity, and socioeconomic background are susceptible to developing fragile X syndrome.

The genetic mutation that is associated with fragile X syndrome limits the production of necessary levels of a specific protein by that gene. These adequate amounts of the protein are required for the cells in the body to grow and develop in an appropriate and effective manner. This protein is important for the growth of brain cells. The degree to which the symptoms manifest is directly proportional to the amount of protein that is digestible and available.

Intellectual disability is the symptom of fragile X syndrome that is diagnosed most frequently in affected individuals.
The majority of guys who are affected by this disorder have an IQ of 75 or lower, with some having even a lower score.
It is more likely that females suffering by fragile X syndrome will demonstrate a variety of symptoms associated with the illness.
While some affected girls and women may have normal IQ, some affected girls and women may have mental impairment and learning difficulties.

People who have fragile X syndrome could also have other sorts of common physical abnormalities or medical issues.
It’s possible that they have long ears to match their lengthy faces.
Additionally, patients could notice irregularities in their emotional state, their conduct, or their senses.

There is currently no treatment available for fragile X syndrome. The goal of treatment is to alleviate the symptoms while also warding off the development of any underlying medical conditions.

Fragile X Syndrome Symptoms

Even among members of the same family who are affected by fragile X syndrome, the indications and symptoms can vary dramatically from person to person.
The following is an exhaustive list of the five categories into which the symptoms of fragile X syndrome can be divided:

• The majority of people who have fragile X syndrome have decreased intellectual capability, which affects their ability to learn and make intelligent decisions.
  This can lead to a wide variety of difficulties with thinking, reasoning, cognition, and learning.
• People who suffer from Fragile X syndrome have a strong visual memory, which helps them remember things like pictures and patterns.
  On the other hand, they could have trouble comprehending more abstract concepts, organising many pieces of information, and finding solutions to issues.
• When compared to male patients with fragile X syndrome, female patients typically have intellectual abnormalities that are less severe than those seen in male patients.
  The average IQ of a female is considered to be normal, and those with mental retardation make up little more than one-third of all females.
  However, they could have difficulty studying certain aspects of academics, particularly in the area of mathematics.
• IQ tests are not the most reliable method for determining whether or not a person has fragile X syndrome in those who are affected by it. This is due to the fact that IQ values can be impacted by a wide number of other conditions, including attention deficit disorder, anxiety, hyperactivity, and so on.
• Younger children that suffer from fragile X syndrome can not show any cognizable signs or symptoms of the disorder’s physical manifestations.There is a possibility that some youngsters will have skin as smooth as velvet, a broad forehead, and a larger head than other children their age.
• Patients who have fragile X syndrome may, as they become older, have distinctive physical anomalies such as a longer face or jaw, as well as ears that are noticeably larger.
  People who are afflicted with this condition may also be of a shorter stature than the average population as well as other members of their own family.
• In men who have fragile X syndrome, an increase in the size of the testicles may occur after puberty as a result of an imbalance in the levels of certain hormones.
  However, sexual functioning is typically unaffected by these conditions.
• Patients who are over the age of 65 may have tremors and have difficulty walking as a side effect of their condition.
• The gene that is thought to be responsible for fragile X syndrome is also involved in the function of connective tissue in the body.As a consequence, patients may suffer from a variety of connective tissue abnormalities, which, in turn, may result in loose, flexible joints that permit extension of the joints beyond the usual range of movement, as well as flat feet.
• A malfunctioning connective tissue structure can also increase a person’s risk of acquiring recurring ear infections, cardiac disorders such as heart murmur, etc., and hernia.
• Fragile X syndrome can cause afflicted boys to have considerable anxiety when it comes to interacting with others. In unfamiliar settings and circumstances, they almost always experience discomfort.
  In turn, excessive worry can lead to speech abnormalities such as fast or interrupted speaking.
• Men who are affected have a propensity for being easily agitated.
  It’s possible that they abhor any disruptions to the daily pattern, and when those disruptions occur, they can become more belligerent.
• The degree to which women affected by fragile X syndrome struggle with emotional and social issues is noticeably less severe than those of men.
•  Patients with fragile X syndrome have an abnormally high level of sensitivity to specific environments and circumstances.
• Patients may suffer from problems in speech such as difficulty in pronunciation, stuttering, as well as language problems such as incorrect use of grammar. Additionally, patients may have problems with the use of the English language.

Other abnormalities that are linked to fragile X syndrome include the following:
There are many other disorders that have been found to afflict persons who have fragile X syndrome, such as autism, seizures, attention deficit hyperactivity disorder, and a variety of connective tissue defects. Premature ovarian failure is another one of these conditions.

Fragile X Syndrome – Causes

One gene on the X chromosome is responsible for the development of fragile X syndrome, which is brought on by a change or mutation in that gene.

The gene in question is referred to as FMR1, which stands for the Fragile X Mental Retardation 1 gene.

The issue is brought on by the duplication of a very short segment of the genetic code that is located on a vulnerable region of the X chromosome. The frequency with which these things happen is directly correlated to the severity of the symptoms.

The FMR1 gene is the one that is responsible for the production of a protein that provides the instructions necessary for the healthy growth and development of various cells throughout the body, notably the brain cells.

The many aberrant symptoms associated with fragile X syndrome are brought on by the body’s inability to produce sufficient quantities of protein due to the genetic abnormalities that are present in persons who have the disorder.

The fragile X syndrome can afflict either males or females, however it is more common in females.
Nevertheless, because males only have one copy of the X chromosome, they are at a significantly increased risk of developing severe cases of fragile X syndrome.

It is conceivable for individuals to get fragile X syndrome even if neither of the parents is a carrier of the genetic disease. This is because the syndrome is caused by a mutation in the fragile X gene.

Fragile X Syndrome – Treatment

At the present time, it is recognized that there is no means to fix genetic defects. Therefore, there is currently no known treatment for fragile X syndrome. The treatment’s primary goal is to lessen the intensity of the symptoms.
The following is a list of some of the available treatment options:

It is necessary to have specialized education in order to remedy the mental impairments and promote mental development.

A variety of drugs and surgical procedures could be suggested by the doctors in order to treat the odd symptoms.

Therapies such as physical, verbal, behavioral, and occupational can assist individuals overcome impairments in a variety of skills.

Authoritative Clinical References

Fragile X Syndrome →  https://pubmed.ncbi.nlm.nih.gov/29083768/