Fragile X syndrome (FRA X) is a genetic disease that is characterized by a decline in intellectual development of varying degrees, usually in boys. In addition, there are symptoms similar to those of ADHD and autism, which is why FRA X syndrome can be confused with them. In such a situation, the diagnosis of the disease is possible only on the basis of genetic tests. What are the causes and symptoms of FRA X syndrome? When does it come out? How is the treatment of the sick?

Fragile X Syndrome(FRA X) or Fragile X Syndrome, Martin-Bella Syndrome, is agenetic diseasewhose inheritance it is linked to the X chromosome. FRA X syndrome is the most common cause of inheritance of moderate intellectual disability. According to research, the disease affects 1 in 4,000 men and 1 in 7,000 women.

Fragile X syndrome (FRA X) - causes

The cause of the Fragile X syndrome isdynamic mutationin the FMR1 gene (located on the X sex chromosome).

Fragile X syndrome (FRA X) - inheritance

A sick father will pass on the X chromosome (which has the mutated gene on) to all his daughters, but not to any of his sons. The risk that a mother who carries the defective gene (usually asymptomatic) will pass it on to her children (both daughter and son) is 50%.

There is a phenomenon known as the Sherman Paradox in disease inheritance. This means that the probability of developing the symptoms of the disease in the family is higher, the greater the number of generations through which the mutation was passed on (the risk increases from generation to generation). For example, the brothers of a he althy male carrier have a 9 percent risk, while his grandchildren - as much as 40 percent.

Fragile X syndrome (FRA X) - symptoms

Symptoms of FRA X syndrome occur in both sexes, but the more varied and intense symptoms appear in men. In young boys, symptoms that should attract parents' attention are enlarged, protruding auricles and psychomotor retardation, as well as very delayed speech development accompanied by behavioral disturbances. After puberty, the main symptom of the disease is intellectual disability, usually of moderate to moderate intensityto a considerable degree. It is usually accompanied by behavioral disorders in the form of hyperactivity, attention deficit disorder, emotional lability, and features of autism. The other symptoms are:

  • testicular enlargement (so-called macroorchidism)
  • elongated, narrow face
  • large, protruding, auricles
  • excessive laxity of the interphalangeal joints in the hands
  • flat feet

In women, the course of the disease is much milder. Half of them may have mild intellectual disability or learning difficulties, as well as emotional disorders, depression, anxiety, anxiety. Characteristic of the external features is a slightly elongated face and enlarged auricles. About 16-20 percent. of them there is a premature menopause (around 40 years of age).

Important

Important genetic tests

The symptoms of FRAX syndrome are similar to those of ADHD and autism. Therefore, every child with autism or autistic features, intellectual disability of unknown cause, especially hyperactive children with other features, such as: poor eye contact, waving, hitting hands, repetitive speech, should be genetically tested for Fragile X syndrome.

If the disease is diagnosed, further diagnosis of the whole family is recommended (to determine if someone else is not a carrier of the defective gene).

Fragile X syndrome (FRA X) - treatment

Cure for a genetic disease is not possible. A child diagnosed with the disease should be under the care of a speech therapist, pedagogue, pediatrician, neurologist and psychological observation. Sometimes the child requires sensory integration therapy, hyperactivity or aggressive behavior. Usually, individual teaching in an integrated class or in a specialized center is necessary.

Category:

Genetic diseases