Fragile X syndrome is known as a genetic and inherited disorder that affects intellectual ability. As such it is a disease that causes great problems for the sufferer and the relatives of the affected. [1]

This syndrome is the most common form of presentation in the world of hereditary intellectual disability. Of every four thousand men born alive, there is one who suffers it. The same goes for a woman of every six thousand born.

The difference between men and women explained, in part, by the genetic configuration of each sex. While women have two X chromosomes, men have only one X and the other is the Y chromosome. Because of this, the alteration can happen without obvious symptoms among women.

We have to consider that if the gene is affected in one of a woman’s X chromosomes. There is another chromosome that can replace that deficiency because it contains the same gene. Women may then have milder signs of the disorder or simply be carriers of the defect without expressing it.

The gene affected in fragile X syndrome is FMR1. Being damaged, it does not produce the FMRP protein correctly or does not even produce it. Then they appear:

• Intellectual disabilities
• Aggression or social relationship disorders
• Language problems

Fragile X syndrome is not curable. Once diagnosed, support from rehabilitation therapies can be provided. But the total reversal of the problem will never be achieved.

Symptoms of fragile X syndrome

When the fragile X syndrome disorder established and manifests, it has varied symptoms. The main problem lies in the intellectual, but it is also accompanied by other signs. Among the usual forms of the presentation we have:

Learning problems

Intellectual involvement can be mild or severe. Sometimes, it is accompanied by hyperactivity and attention deficit. Which profoundly affects the school inclusion of children. It is also frequent that the language is altered.

Undeveloped speech

Especially in men, and with the very low incidence among women. They usually stutter or pronounce the words without saying them completely. They expected to develop language a long time later compared to other children of the same age. Total dumbness does not happen often, but some patients never develop language completely.

Physical changes

Some neonates do not reveal any physical characteristics that make one suspect a fragile X syndrome. However, with the passage of time and the arrival of adolescence, the enlarged ears, a prominent forehead and the flat foot that usually accompany it become more evident.

Social adaptation disorders

Children with fragile X syndrome can be anxious, reticent to eye contact and even aggressive. [2]

Hypersensitivity

While the sensory aspect is not the most relevant, there may be photophobia and excessive reaction to loud noises.

Non-complete forms of fragile X syndrome

Fragile X syndrome does not always appear complete. If the alteration of the FMR1 gene is mild or occurs in a woman who can compensate with her other X chromosome, then different forms manifest. The two alternative presentations to the usual are:

Primary ovarian insufficiency

The acronym for this syndrome is FXPOI. Women who suffer from it are often infertile and enter menopause at an early age. Already before the age of forty, they lose their menstrual cycles. In the case of not suffering infertility and getting pregnant, your children are at high risk of inheriting the syndrome.

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Tremor/ataxia of the fragile X chromosome

In this case, the acronym in English is FXTAS. The main involvement is in the nervous system . Patients tremble sharply, have trouble walking and suffer imbalances. In general, there is an association with mood disorders.

Treatments

We already anticipate that fragile X syndrome has no cure. This genetic alteration that cannot be solved once the embryo has it. Nor it can be reversed during the growth of the affected child.

The support, done with rehabilitation therapies. They encouraged for correct speech and incorporation into the educational system. Behavioral problems approached from psychology to improve their social relationships.

These children are ideal candidates for early stimulation. Moreover, one could say that it is an unavoidable medical indication that they attend centers of this type. Healthzigzag proposes that, at least up to three years of life, stimulate with the already proven stimulation techniques.

Many associations of family members and patients with fragile X syndrome work in the world to publicize the pathology and seek alternatives. You can learn more about the disease to take the first big step that is not to discriminate. Published By Healthzigzag.com

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