Fragile X syndrome, also called Martin-Bell syndrome, is a genetic alteration of an X chromosome. The main features of the condition are mental deficits and an altered appearance. Fragile X syndrome cannot be treated, but it is possible to alleviate symptoms with appropriate therapies.
What is fragile X syndrome?
Fragile X syndrome is an inherited disorder caused by the defect (mutation) on an X chromosome. The disease occurs primarily in males; females are less commonly affected. Fragile X syndrome is characterized by mental developmental disorders and physical changes. The disease was first described in 1943 and in 1991 the gene on which the alteration takes place was discovered. It was also now possible to identify the nature of the damage; it consists of a break in the DNA sequence on one of the legs of the X chromosome. These new findings changed the name from Martin-Bell syndrome (after its discoverers) to fragile X syndrome (fragile=fragile). The changes on the gene occur in different degrees. In the case of a premutation (low degree), the symptoms are much weaker and usually no intellectual deficits are apparent. The full mutation (severe change), on the other hand, leads to marked intellectual disability with the typical outward appearance of fragile X syndrome.
Causes
The cause of fragile X syndrome is the mutation of an X chromosome. This chromosome belongs to the sex chromosomes. Girls have two X chromosomes in each nucleus, and boys have one X and one Y chromosome. The disorder in fragile X syndrome forms on one of the long legs of the X. To date, the exact effects have not been researched, but it is thought that this gene is normally responsible for the production of a certain protein in the body. If the gene is damaged, depending on the extent of the damage, this protein is either not produced sufficiently or not at all. This disorder in turn affects other proteins and at the end of this chain of effects is a reduced supply and shrinkage of brain cells. Fragile X syndrome affects women less often than men because they have two X chromosomes and therefore one can compensate for the damage to the other.
Symptoms, complaints, and signs
The main symptom of Martin Bell syndrome (fragile X syndrome) is varying degrees of intellectual disability. Both men and women can be affected. Since women have two X chromosomes, they are usually only symptomless carriers of the disease. Sometimes they also develop symptoms, but they are usually much milder than in men. Also, 20 percent of affected males remain symptom-free. The degree of intelligence impairment in individuals with fragile X syndrome varies widely. Thus, the range of intelligence reduction extends from persons with normal IQ but who suffer from learning difficulties to persons with a very pronounced intellectual disability. In addition, behavioral problems such as speech disorders, attention deficits, aggressiveness, hyperactivity or autism may occur. Some affected individuals experience epileptic seizures. In addition to mental development, motor development may also be delayed. Furthermore, physical changes occur, which often appear in childhood. These include large, protruding ears, a long and narrow face, a protruding chin and forehead, hyperextensible joints, enlarged testicles, and conspicuous growth. In most cases, the physical changes are not particularly pronounced. However, they can become more pronounced as the person ages. All of the listed symptoms of Fragile X syndrome can occur, but they do not have to. However, it has been observed that often the symptoms become more pronounced in the offspring of affected individuals.
Diagnosis and course
The typical symptom of fragile X syndrome is primarily decreased mental performance. This can range in severity from a minor learning disorder with a normal intelligence quotient to mental retardation. Frequently, attention and speech disorders are also present, as well as hyperactive or autistic behavior. Typical is the external appearance with a long slender face and very pronounced forehead and chin areas.The symptoms are more pronounced in boys than in girls. The children grow faster than the norm, but usually remain within the normal range with their final height. Fragile X syndrome can be diagnosed in the womb. To do this, prenatal (pre-natal) procedures such as chorionic villus sampling (removal of cells from the placenta) or amniocentesis (amniocentesis) can be used to obtain cells from the unborn child. These are then subjected to molecular genetic testing, which can detect the typical changes of fragile X syndrome on the chromosome.
When should you see a doctor?
Even though fragile X syndrome is a hereditary, non-curable condition, a timely visit to the doctor can promote positive development. Attentive parents should respond to any noticeable learning deficits in their children. Problems in intellectual performance or motor dexterity provide initial indications. Since the severity of these problems varies greatly, in many cases the actual cause remains undiscovered for a long time. However, if there are no other plausible reasons for the symptoms, a more intensive clarification by a specialist is advisable. In general, hyperactivity, autistic behavioral traits, as well as increasing weaknesses in learning or language development always require thorough clarification by a doctor. Other typical warning signs are epileptic seizures and characteristic deformations of the face. Elongated and oval looking parts, strongly pronounced chin or protruding forehead give reason for an examination for a possible disease of the fragile X syndrome. In rare cases, signs of scoliosis or foot deformity can also be observed. In principle, the features alone are not yet considered specific. Although the genetic disease cannot be cured, it can be managed and the quality of life of affected individuals can be improved in a targeted manner. Treatment by specialists in psychiatry, pediatrics as well as neurology is primarily aimed at alleviating the symptoms. Particularly at a young age, a timely diagnosis of fragile X syndrome can steer conspicuous behavior into milder paths through behavioral therapy. Corresponding symptoms are mainly found in male offspring. Since these usually suffer significantly more often and more severely compared to women from the developmental disorder in their later life, a rapid determination of the cause remains advised in sons.
Treatment and therapy
Because the cause of fragile X syndrome lies in the genes, therapy is not possible. Thus, treatment is aimed at reducing symptoms and providing intellectual support for affected children. Speech therapy and speech therapy can alleviate language deficits. Behavioral, developmental and occupational therapy strengthen and encourage the children and help with everyday difficulties. Sometimes medications, such as methylphenidate (known as the trade name Ritalin), are used to treat hyperactivity. The administration of folic acid is also thought to have a beneficial effect on fragile X syndrome. Long-term psychosocial support for families is recommended. Parents are informed and advised in detail about the disease, children are prepared for kindergarten and school, and they receive therapeutic support in special support facilities during kindergarten and school. In addition, genetic counseling of the family is recommended for fragile X syndrome, since the disease is hereditary and can therefore be repeated in another child. There are self-help groups of parents whose children have fragile X syndrome in various cities. Here one can get information and support.
Outlook and prognosis
Fragile X syndrome is a genetic disorder that causes abnormalities and peculiarities shortly after birth. Since human genetics cannot be altered by medical professionals for legal reasons, there is no prospect of cure for the patient. In addition, numerous different irregularities occur with the disease, most of which must be cared for in parallel. The medical care of the patient is based on the alleviation of the individually occurring symptoms, which usually has to be coordinated with several medical specialists. Physical as well as mental impairments are to be expected with the disease.The prognosis is considered unfavorable, although significant improvements in health are achieved through various therapeutic approaches. Linguistic deficits are mitigated by logotherapy. Nevertheless, despite all efforts, the linguistic level cannot be compared with healthy people. The physical developmental disorder is supported by specific exercises and training. Early intervention measures are applied to ensure optimal support and integration for everyday life. Behavioral problems are treated in therapies or via medicinal approaches. Patients with the disease must undergo long-term therapy to improve their well-being. They also require adequate care or support in their daily lives. Without medical treatment, there is a severe impairment of quality of life and an increase in symptoms.
Prevention
Fragile X syndrome cannot be prevented because it is a genetic disorder. Early recognition of the disease is important so that concomitant therapies can be started as soon as possible.
Follow-up
Since fragile X syndrome is a disease with a genetic cause and complete recovery is not possible, there is accordingly no aftercare for any therapies. Often, therapies in various life situations (speech therapy, occupational therapy) can promote the resources of the affected person without a chance of cure in the conventional sense. Aftercare measures are more concerned with integrating a successful therapy into the person’s individual everyday life so that a higher degree of independence and participation in various areas of life can be achieved. Children and adolescents with Martin-Bell syndrome in particular often benefit greatly in their development from various holistic therapy approaches and orientation towards practical life skills. At the same time, it is important to pay attention to small successes in therapies, to value them and not to focus exclusively on the deficits of an affected person. Long-term therapy attempts could make a person with fragile X syndrome feel inadequate and insufficient, as they are constantly confronted with their own weaknesses and limitations. Accordingly, therapy follow-up also includes emotional support for patients. Some people also need support with subsequent integration into a social field. Here, society’s prejudices often get in the way, so there is a risk of social exclusion
What you can do yourself
Fragile X syndrome itself is not treatable. To alleviate symptoms, affected individuals or parents of affected children can take some steps. Affected children need a stable and loving home. Parents should also not be afraid to seek professional help. Self-help groups or family helpers – especially for families with several children in the household – can be a support for the parents. In the case of very severe psychological stress, professional care by a psychologist is also a measure. Treatment is primarily focused on mental and motor support. A combination of speech therapy and occupational therapy shapes everyday life. The exercises learned must also be repeated at home to ensure long-term success. In order to counteract the hyperactivity that is often present, medication must also be administered in some cases. Here parents can also substitute with herbal preparations. Bach flower and aromatherapy could be an alternative. In the case of existing behavioral problems, a conscious change in diet can also help in addition to behavioral therapy: sugar, milk, white flour, phosphates, additives and preservatives in finished products put a strain on the body, provide too much energy in a very short time, have a negative effect on hormone regulation and thus intensify mood swings. A balanced diet rich in vital substances stabilizes the body and also strengthens the child’s immune system. Constitutional treatment by a homeopath can also permanently alleviate the symptoms.