It is a disorder of genetic origin that affects the X sex chromosome. Its cause is due to the mutation of a gene necessary for the production of a protein (known as FMRP) that intervenes in the development of the brain. Fragile X Syndrome
How does it manifest?
This disorder manifests itself through a series of developmental and behavioral changes that begin shortly after birth.
Its main features include:
Delay in motor development. Children with this condition have difficulties to mobilize and speak. They are like babies who cannot turn, sit, crawl and even walk, even at their current age.
Difficulty in socializing. Children affected by this disorder are often hyperactive, distracted, and have difficulty making eye contact or paying attention.
Physical changes. Physically, affected children do not have distinctive physical characteristics during childhood, so they look like any other child. In adulthood, it can develop relevant changes, such as a prominent forehead, large ears and flat feet. When we are faced with a very anxious adult with big ears, we immediately think that this is an individual who suffers from fragile X syndrome.
Men have an XY karyotype, as they have only one X chromosome, while women, because they are XX, have two chromosomes. For this reason, symptoms are often more severe when the syndrome affects men. Fragile X Syndrome
Treatment of this condition
As with other genetic diseases, the disorder has no definitive cure, as it is not possible to replace the affected X chromosomes.
An early identification of the problem allows carrying out several interventions that help the individual to develop their potential and have the lowest possible degree of disability. These interventions include: Fragile X Syndrome
Early stimulation. It is based on helping the child acquire skills such as walking, controlling posture and speaking.
Behavior control. Many children with this disorder have hyperactivity or some type of autism spectrum disorder. In these cases, they are associated with therapies that facilitate interaction with others and integration with their surroundings. It is possible that in some cases they deserve specific treatments to control certain behaviors, including psychotherapy, cognitive behavioral therapy and even medication.
Rehabilitation. It is an important part of helping these patients. The therapy seeks to eliminate the most of disability and teaches perform various daily activities such as eating, dressing, to sanitize and even the attitudes related to work activities without incurring injuries. Fragile X Syndrome