Fragile X Syndrome: Causes, Symptoms And Treatment
Our genetic code carries the necessary instructions to shape and develop our body. We inherit much of what we are from our ancestors, although whether or not some of these instructions are expressed will depend on the environment in which we live.
However, sometimes various genetic mutations occur that can result in the existence of a disorder in those who carry them. This is the case of fragile X syndromethe second most common cause of mental retardation for genetic reasons.
Fragile X syndrome: Description and typical symptoms
Fragile X syndrome or Martin-Bell syndrome is an X-linked recessive genetic disorder. The symptoms caused by this syndrome can be observed in different areas.
The most notable are those linked to cognition and behavior, although they may present other symptoms such as typical morphological alterations or even metabolic problems. Although it affects both men and women, as a general rule it is much more prevalent in the former, also having more pronounced and serious symptoms.
Cognitive and behavioral symptoms
One of the most characteristic symptoms is the presence of intellectual disability. In fact, along with Down syndrome, fragile X syndrome is one of the most common genetic causes of mental retardation. This disability can be highly variable.
In the case of women, a level of intelligence bordering on intellectual disability is usually observed, with an IQ between 60 and 80. However, In men the level of disability is usually much higherwith an IQ generally between 35 and 45. In this case we would be faced with a moderate disability, which would mean slower development and delay in the main milestones such as speech, with difficulties in abstraction and the need for a certain level supervision.
Another common aspect is the presence of a high level of hyperactivitypresenting motor agitation and impulsive behaviors. In some cases they can even harm themselves. They also tend to have difficulties concentrating and maintaining attention.
It is also possible that they present typically autistic behaviorswhich can lead to the presence of severe difficulties in social interaction, phobia of contact with other people, mannerisms such as hand shaking and avoidance of eye contact.
Typical morphology
Regarding physical characteristics, one of the most common morphological characteristics in people who suffer from fragile X syndrome is that have a certain level of macrocephaly from birthpossessing relatively large and elongated heads. Other common aspects are the presence of large eyebrows and ears, a prominent jaw and forehead.
It is relatively common for them to have hypermobile joints, especially in the extremities, as well as hypotonia or muscle tone below expectations. Deviations of the spine are also common. Macroorchidism, or excessive testicular development, may also appear in males, especially after adolescence.
Medical complications
Aside from the types of characteristics that we have seen, people with fragile X syndrome may present alterations such as gastrointestinal problems or decreased visual acuity. Unfortunately, many of them have cardiac disorders, making them more likely to suffer heart murmurs. A high percentage, between 5 and 25%, also suffer seizures or epileptic seizures, whether localized or generalized.
Despite this, those who have Martin-Bell syndrome they can have a good quality of lifeespecially if the diagnosis is made early and there is treatment and education that allow the effects of the syndrome to be limited.
As we have indicated, fragile X syndrome is a disorder of genetic origin linked to the X sex chromosome.
In people who suffer from this syndrome, the X sex chromosome undergoes a type of mutation which causes a specific series of nucleotides in the FMR1 gene, specifically the Cytosine-Guanine-Guanine (CGG) chain, to appear excessively repeated throughout the gene.
While subjects without said mutation may have between 45 and 55 repetitions of said chain, a subject with fragile be silenced.
The fact that the X chromosome is the one affected by the mutation is the main reason why the disorder is seen more often and with more frequency. greater severity in men,by having only one copy of said chromosome. In women, since they have two copies of the X chromosome, the effects are minor, and symptoms may not even appear (although they can transmit it to their offspring).
Treatment of Martin-Bell syndrome
Fragile X syndrome There is currently no cure. However, the symptoms caused by this disorder can be treated in a palliative manner and in order to improve their quality of life, through a multidisciplinary approach that includes medical, psychological and educational aspects.
Some of the treatments used with people with this syndrome in order to improve their quality of life They are speech therapy and different language therapies. in order to improve their communication skills, as well as occupational therapy that helps them integrate information from the different sensory modalities.
Cognitive-behavioral programs and treatments can be used to help them establish basic and more complex behaviors. At the educational level it is necessary that they have individualized plans that take into account their characteristics and difficulties.
At a pharmacological level, SSRIs, anticonvulsants and different anxiolytics are used in order to reduce symptoms of anxiety, depression, obsessiveness, psychomotor agitation and seizures. Psychostimulant drugs are also occasionally used. in cases where a low level of activation is present, as well as atypical antipsychotics on those occasions when aggressive or self-destructive behaviors usually occur.
