Fragile X Syndrome (Martin Bell Syndrome)

The Fragile X Syndrome, also Martin Bell Syndrome called, is a genetic change on an X chromosome. The main characteristics of the disease are mental deficits and a changed appearance. Fragile X syndrome cannot be treated, but it is possible to alleviate the symptoms with appropriate therapies.

What is Fragile X Syndrome?

Since women have two X chromosomes, they are usually only symptom-free carriers of the disease. Sometimes they also develop symptoms, but these are usually much milder than in men.
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Fragile X syndrome is an inherited disease that is caused by a defect (mutation) on an X chromosome. The disease occurs primarily in males, females are less 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 change occurs was discovered. The type of damage could now also be seen; it consists of a break in the DNA sequence on one of the legs of the X chromosome. As a result of these new discoveries, the name Martin Bell Syndrome (after its discoverer) changed to Fragile X Syndrome (fragile).

The changes in the gene occur in different forms. With a premutation (minor extent) the symptoms are much weaker and there are usually no intellectual deficits recognizable. The full mutation (strong change), on the other hand, leads to a significant intellectual disability with the typical external 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 cell nucleus, boys have one X and one Y chromosome. The disorder in Fragile X syndrome forms on one of the long legs of the X.

The exact effects have not yet been researched, but it is believed that this gene is normally responsible for the production of a specific protein in the body. If the gene is damaged, this protein is either not produced sufficiently or not at all, depending on the extent of the damage.

This disruption, in turn, also affects other proteins and at the end of this chain of effects there is an insufficient supply and shrinkage of brain cells. Fragile X syndrome affects women less than men because they have two X chromosomes and one can compensate for the damage to the other.

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Symptoms, ailments & signs

The main symptom of Martin Bell Syndrome (Fragile X Syndrome) is a different degree of intellectual disability. Both men and women can be affected. Since women have two X chromosomes, they are usually only symptom-free carriers of the disease. Sometimes they also develop symptoms, but these are usually much milder than in men.

20 percent of affected men also remain symptom-free. The degree of intellectual disability in people with Fragile X syndrome varies greatly. The spectrum of intellectual disabilities ranges from people with a normal IQ, but who suffer from learning difficulties, to people with a very pronounced intellectual disability.

In addition, behavioral problems such as language disorders, attention deficits, aggressiveness, hyperactivity or autism can occur. Some people have epileptic seizures. In addition to intellectual development, motor development can also be delayed. Furthermore, physical changes occur that often already appear in childhood.

These include large, protruding ears, a long and narrow face, a protruding chin and forehead, overstretchable joints, enlarged testicles and noticeable growth. Usually the physical changes are not particularly pronounced. However, they can become even stronger in the course of life. All of the listed symptoms of Fragile X syndrome may or may not occur. However, it has been observed that the symptoms are often more noticeable in the offspring of those affected.

Diagnosis & course

The typical symptom of Fragile X Syndrome is primarily a decreased mental performance. This can range from a minor learning disorder with a normal intelligence quotient to intellectual disability.

Often there are also attention and language disorders, as well as hyperactive or autistic behavior. Typical is the external appearance with a long, slim 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 stay within the normal range with their final size. The diagnosis of Fragile X Syndrome can be made in the womb. In addition, prenatal (prenatal) procedures such as chorionic villus sampling (removal of cells from the placenta) or amniocentesis (amniotic fluid examination) can obtain cells from the unborn child.

These are then subjected to a molecular genetic examination, in which the typical changes of the fragile X syndrome on the chromosome can be recognized.

When should you go to the doctor?

Even if Fragile X syndrome is a hereditary, incurable disease, a timely visit to the doctor can promote positive development. Parents should react vigilantly to noticeable learning deficits in their children. Problems with intellectual performance or in motor dexterity provide the first clues. Since the severity 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 and increasing weaknesses in learning or language development always require a thorough investigation by the doctor. Typical warning signals are epileptic seizures and characteristic deformations of the face.

Elongated and oval-looking areas, a pronounced chin or a protruding forehead give rise to 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 characteristics alone are not yet considered specific.

The genetic disease cannot be cured, but dealing with it and improving the quality of life of those affected can be targeted. Treatment by specialists in psychiatry, pediatrics and neurology is primarily aimed at relieving symptoms.

Particularly at a young age, a disease of fragile X syndrome diagnosed in good time and abnormal behavior can be steered into milder paths through behavioral therapy. Corresponding symptoms can be found mainly in male offspring. Since they usually suffer from the developmental disorder later in life much more often and more than women do, it is advisable to quickly identify the cause of sons.

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Treatment & Therapy

Since the cause of Fragile X syndrome lies in the genes, therapy is not possible. The aim of treatment is to alleviate symptoms and promote the intellectual level of the affected children. Speech therapy and speech therapy can alleviate language deficits. Behavioral, developmental and occupational therapy strengthen and support the children and help with everyday difficulties.

Medicines such as methylphenidate (known as Ritalin) are sometimes used to treat hyperactivity. The administration of folic acid is also said to have a beneficial effect on Fragile X syndrome. Long-term psychosocial care for families is recommended. The parents are informed and advised in detail about the illness, the children are prepared for kindergarten and school and they are given therapeutic support in special support institutions during kindergarten and school.

In addition, genetic counseling of the family is recommended in the case of fragile X syndrome, as the disease is inheritable and can therefore be repeated in another child. There are self-help groups in various cities run by parents whose children have fragile X syndrome. Here you can get information and support.

Outlook & forecast

The fragile X syndrome is a genetic disease that leads to abnormalities and peculiarities a short time after birth. Since the genetics of humans cannot be changed by doctors for legal reasons, there is no prospect of a cure for the patient. In addition, numerous different irregularities occur with the disease, which usually have to be looked after in parallel.

The medical care of the patient depends on the alleviation of the individually occurring complaints, which usually has to be coordinated with several specialists. Physical as well as mental impairments are to be expected with the disease. The prognosis is to be classified as unfavorable, although clear improvements in health can be achieved through various therapeutic approaches.

Linguistic deficits are alleviated by logotherapy. Nevertheless, despite all efforts, the language level cannot be compared with healthy people. The physical development disorder is supported by targeted exercises and training. Early intervention measures are used to ensure optimal support and integration for everyday life.

Behavioral problems are treated in therapies or via drug approaches. Patients with the condition must undergo long-term therapy to improve their wellbeing. They also need adequate care or support in everyday life.Without medical treatment, quality of life is severely impaired and symptoms increase.

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prevention

Fragile X syndrome cannot be prevented because it is a genetic disease. It is important to recognize the disease at an early stage in order to be able to start the accompanying therapies as soon as possible.

Aftercare

Since fragile X syndrome is a disease with a genetic cause and no full recovery is possible, there is accordingly no aftercare for any therapies. Therapies in different situations (speech therapy, occupational therapy) can often promote the resources of those affected without a chance of healing in the conventional sense.

Follow-up measures are more about integrating therapeutic success into the individual's everyday life so that a greater degree of independence and participation can be achieved in various areas of life. Children and adolescents with Martin Bell Syndrome in particular often benefit greatly in their development from various holistic therapeutic approaches and the orientation towards practical life skills.

At the same time, it is important to pay attention to small successes in therapy, to appreciate them and not to focus exclusively on the deficits of an affected person. Long-term attempts at therapy could give a person with Fragile X syndrome the feeling of being inadequate and inadequate, since they are repeatedly confronted with their own weaknesses and limits.

Therapy aftercare therefore also includes emotional support for the patient. Some people also need support with a subsequent integration into a social field. The prejudices of society often stand in the way, so that there is a risk of social exclusion

You can do that yourself

Fragile X syndrome itself is not treatable. Those affected or parents of sick children can take a few steps to relieve symptoms. 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 in families with several children in the household - can be a support for parents. In the case of very strong psychological stress, professional care by a psychologist is also a measure.

The treatment is primarily aimed at promoting mental and motor skills. A combination of speech therapy and occupational therapy shapes everyday life. The exercises learned have to be repeated at home in order to ensure long-term success. In order to counteract the hyperactivity that is often present, drugs must also be administered in some cases. Here parents can also substitute herbal supplements. Bach flower and aromatherapy could be an alternative.

In addition to behavioral therapy, conscious dietary changes can also help with existing behavioral problems: 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 increase mood swings. A balanced diet rich in vital substances stabilizes the body and also strengthens the child's immune system. The constitution treatment with a homeopath can also permanently alleviate the symptoms.