Dorothy FarrarFragiles-X-Syndrom (Martin-Bell-Syndrom)
Along with Down syndrome (trisomy 21), Fragile X syndrome (Martin Bell syndrome) is the most common hereditary disease worldwide that leads to mental disabilities. The disease was first described in 1943 by the British doctor James Martin and the human geneticist Julia Bell and is therefore also known as Martin-Bell syndrome.
What is Fragile X Syndrome?
Fragile X syndrome (Martin Bell syndrome) is a developmental disorder caused by a genetic change (mutation). It occurs more frequently in boys than in girls. Affected women usually also show less pronounced (or no) symptoms.
The name “Fragile X Syndrome” derives from an irregularity in the X chromosome. There, a specific, fragile (=fragile) spot can be detected under a microscope. Fragile X syndrome is associated with a more or less pronounced intellectual disability, which can range from minor learning difficulties to severe intellectual disabilities.
causes
The cause of Fragile X Syndrome (Martin Bell Syndrome) is an inherited genetic defect. The human genome consists of 46 chromosomes, 23 of which come from the father and 23 from the mother. The 23rd pair of chromosomes determines the gender (sex chromosomes) and consists of an X and a Y chromosome in men and two X chromosomes in women.
Over generations, the “full mutation” can develop in the X chromosome via a so-called “premutation” (without symptoms of the disease). This genetic mutation causes a gene to drop out. This gene is responsible for the production of a specific protein, the FMR1 protein. FMR1 protein is therefore no longer produced in patients with Fragile X Syndrome.
FMR1 is involved in the metabolism of neurotransmitters in the brain. A deficiency leads to a regression of the neuronal connections and thus to a mental impairment of those affected. Researchers are currently investigating other functions of this protein that lead to the other typical symptoms of Fragile X Syndrome.
symptoms and course
Typical symptoms of Fragile X Syndrome:
- intellectual disability
- learning disabilities
The main symptom of Fragile X Syndrome (Martin Bell Syndrome) is a varying degree of intellectual disability. All other symptoms only occur in some of the patients, which means that not everyone affected shows all the symptoms. Typical visual features are often present: A narrow face with a long, protruding chin and large, protruding ears. The older those affected are, the more prominent the facial features become. About 12 percent of the affected children are autistic , 20 percent get epileptic seizures . In men, testicular enlargement occurs in the majority of cases (approx. 80 percent). Fragile X syndrome also commonly has excessively loose ligaments, hyperextensible joints, flat feet , and aScoliosis (curvature of the spine).
Behavioral problems such as hyperactivity and attention-deficit hyperactivity disorder (ADHD) are also symptoms of fragile X syndrome. Children with Fragile X Syndrome develop more or less slowly. They walk later and usually have deficits in language development. Further consequences of the disease depend on the severity of the mental impairment. However, life expectancy is not reduced in patients with Fragile X syndrome.
Diagnose
The diagnosis “Fragile X Syndrome” or “Martin Bell Syndrome” can only be made with a human genetic DNA analysis. If the above symptoms raise suspicion of the disease, especially if children show intellectual disability of unknown cause, the chromosomes are examined for an abnormality on the X chromosome.
A simple blood test is sufficient for this . If there is a family history of Fragile X syndrome, a prenatal (before birth) examination can be carried out on a pregnant woman. It can be detected in the unborn child by removing chorionic villus tissue or by examining the amniotic fluid (amniocentesis).
complications
The Martin-Bell syndrome leads to severe mental retardation and further psychomotor restrictions in those affected. The quality of life of those affected is significantly reduced by the syndrome. In most cases, the parents and relatives of the patients are also affected by Martin Bell Syndrome, resulting in psychological problems or further depression . It is not uncommon for patients to be unable to cope with everyday life on their own and need support to do so. Those affected suffer from epileptic seizures and can also be degressive. Furthermore, the growth and development of the children are clearly disturbed, so that bullying or teasing can occur, especially in childhood.
The appearance of the patients is also clearly changed, resulting in protruding ears or a very long face. Furthermore, the patient’s concentration is usually reduced, resulting in deficits in attention. A causal treatment of Martin-Bell syndrome is not possible. However, the symptoms can be reduced with the help of therapies and surgical interventions. As a rule, the life expectancy of the patients is not reduced by the syndrome. There are no further complications during the treatment.
treatment and therapy
Causal therapy is not possible for Fragile X Syndrome (Martin Bell Syndrome) because the disease is genetic. Clinical trials are being carried out with active ingredients that are intended to have a positive effect on the disturbed metabolism in patients with Fragile X Syndrome. So far, however, no therapeutic agents are available. However, development processes can be supported and deficits improved by suitable early and further support measures.
Physiotherapy helps patients with Fragile X Syndrome who have orthopedic or psychomotor movement restrictions. Occupational therapy can help to train the ability to act in everyday life. The aim is to improve limited functions of the body and mind. Many children with Fragile X Syndrome have language development problems. Speech therapists support affected parents and children with advice and therapy in all areas that affect the voice, speaking, language disorders or swallowing disorders.
Auditory perception may also be altered in people suffering from Fragile X Syndrome. This is where the Tomatis therapy comes in, which trains the sense of hearing, the sense of balance and perception. In some cases, therapeutic riding can also bring about an improvement. In addition to promoting body awareness and sensory perception, fears are reduced, self-confidence is built up and an emotional closeness to the animal is established.
prevention
Fragile X syndrome (Martin Bell syndrome) is a genetic, hereditary disease. Prevention is therefore not possible. However, if it is known that a close family member has already developed Fragile X Syndrome, or if someone is affected themselves, this knowledge should be included in family planning. Pregnant women or couples planning children can take advantage of genetic counseling.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.