Fragile X syndrome It is another of the chromosomal abnormalities linked to the pair that determines sex. In this case it is an anomaly of the X chromosome, which has a piece of the end of one of its partially defective arms. It is the most common cause of mental retardation due to hereditary causes and unfortunately it is not well known.
It is caused by the mutation in a single gene, the FMR1, which is found on one of the sex chromosomes, the X chromosome. There is a specific segment of DNA within the FMR1 gene that is usually repeated 5 to 40 times. In people affected by Fragile X Chromosome Syndrome, this segment known as CGG, is expanded up to 200 times or more, preventing the gene from producing the fragile X chromosome protein. This protein is a key factor in the regulation in the brain and its absence causes deregulation of other proteins and causes problems in learning and behavior.
How is fragile X syndrome transmitted?
Is a quite common inherited disorder, since one in every 4,000 births, in men, since they are more likely to suffer the consequences of this genetic abnormality. The defective chromosome can be transmitted to the children by both males and female carriers, but in the case of inheriting a male, their involvement is safe, since they do not have another X chromosome to protect it. It is estimated that in Spain there may be about 10,000 affected.
Since it is a recessive gene, so, in women, if they are not carriers of both defective X, they will be carriers but will not suffer the consequences of the syndrome. Although surprising, it is estimated that 1 out of every 600 women is a carrier of the fragile X and in Spain they can be about 50,000.
It must be borne in mind that a carrier mother has a 50% chance of transmitting the anomaly to each of her children and that her daughters, despite not showing symptoms, may in turn transmit it to their children if they have inherited it . The point is that 90% of carriers are unaware.
How is it diagnosed?
The only way to diagnose fragile X syndrome is to perform a genetic analysis. Since it is a fairly widespread problem in society, it is considered that making this diagnosis when there is a mental or developmental delay without a known cause would be very appropriate, especially since the young children who suffer from it do not give obvious physical samples that allow them to offer care specialized early.
In addition, it is convenient to extend the analysis to the relatives of people with an undiagnosed mental or developmental portrait, so that future cases can be controlled prenatally.
Is Fragile X Syndrome cured?
No, there is no possible cure. It can be prevented by genetic diagnosis, identifying the carriers so that they know their condition and seek a preimplantation diagnosis by taking zygote cells before implantation, after an "in vitro" fertilization. This not only prevents the child from suffering from the problem, but also avoids the choice of female embryos that could be transmitters.
Currently the treatment of fragile X chromosome syndrome Early diagnosis is very necessary to coordinate the stimulation of the newborn, the pharmacological treatment of clinical symptoms, psychotherapeutic support, speech therapy, pedagogy and occupational therapy. It is also proposed that healing may be possible, in the medium term, thanks to gene therapy or, at least, with drugs that reproduce the action of the FMRP protein, whose absence is what triggers the syndrome.
How does it affect the family?
The family It will be of great importance in the lives of children with this problem and the diagnosis is usually a traumatic moment, since in addition to the patient, the whole family is affected. First, you have to think that the diagnosis is not always early, and it comes after a long time of anguish and searches.
The fact that it is a hereditary problem triggers many fears and even guilt, worry until finding that other family members can transmit it and a strange feeling towards the child besides deep concern for him.
After the moment of "shock" families recover, seek help and treatments to help the child and often find it important to let off steam and learn about the experiences of other families. Anyway, we must know that the presence of a subject with disability affects the family and the psychological well-being of its members, being able to have a lower social life and feel without resources to face the problems. That is why the relationship with families in the same process helps them a lot. In the end, accepting the family member who has a disability and facing reality by making their lives richer is the path to a better quality of life for all.
Symptoms of fragile X
The most obvious symptom is a mental retardation It goes from mild to severe. In addition, men may have hyperactivity, disorganized language and autism, although their behavior is, even in those cases, affectionate. Girls may suffer a mild mental retardation but there are no other associated problems, except a marked shyness. They can also be affected by early menopause.
In 80% of cases, recognizable physical symptoms will occur. In men: large testicles, large ears, prominent lower jaw. The typical face is long and narrow. About half will have hypersensitivity in the joints and flat feet. Affected women have the same problems and broadcasters may have an isolated feature.
The treatment
Mental retardation and social behavior problems are the most serious problems caused by fragile X syndrome, however, through early detection and multidisciplinary treatment, stimulation can begin very soon, which will help them develop Maximum your capabilities. The family will be very important in stimulation and must begin in the first years of life.
As the child grows, it may be necessary to go to speech therapy and speech therapies, in addition to seeking support in areas such as attention, hyperactivity, relaxation, impulsivity or social skills, in some cases using drugs to help Better integration
With a treatment based on adequate attention and personalized education It is possible for adults with this problem to develop a work activity, especially through occupational therapy, focusing on motor or repetitive activities. These people who suffer from fragile X syndrome They can develop all their capabilities to the fullest and feel a last part of society.
