Rett syndrome > Health and Wellness.
Rett syndrome is a disease of the neurological development of genetic cause affecting mainly children and very rarely children. This
disease is named after the doctor Austrian Andreas Rett, who describes
the cases of 22 girls who had repetitive movements in the hands, in 1966
as "wash hands", accompanied by motor problems and mental retardation.
Often merges with autism, paralysis with delays in development without a source or cerebral clear Rett syndrome.
The cause of Rett syndrome is an alteration (mutation) in the gene MECP2 (methyl-CpG-binding protein 2), located in the locus (position of a gene within a chromosome) q28 of Chromosome X. Through this gene produces a protein (called MeCP2) which is widely distributed at the level of the cell nucleus and is especially abundant in mature neurons of the central nervous system. This protein plays an important role in the regulation of Synapse (communication between neurons) and is essential in the development of the nervous system after the first months of life. There are more than two hundred mutations described in this gene, however is not known exactly how works the abnormal protein that encodes the mutated gene to produce the disease.
Although Rett syndrome is genetic cause, by about ninety-nine percent of the cases the mutation appears in the patient spontaneously during its embryonic development in the womb, therefore it has not inherited it from their parents. In one percent of the remaining families with Rett the defective gene has been transmitted from women carrying the mutation towards their children. Scientists are still trying to understand the process of inheritance in this complicated disease.
In relation to its prevalence, this disease is classified into the Group of rare diseases and occurs in one of every 10,000 newborns live female, being the second most common cause of mental retardation in this sex.
It is usually diagnosed during the first two years of life, it is essential to indicate treatments aimed to improve psychomotor retardation presenting patients, since changes in the normal patterns of social and mental development begins between six and 18 months.
When the mutation appears in newborn male disease is usually very aggressive, because children have a single X chromosome and they die during the first days of life.
It is important to highlight that this disease is not a disease neurodegenerative, but a disease of the brain development, therefore altered all its functions are: the development of cognitive, sensory, motor, emotional and Autonomic (sympathetic and parasympathetic) nervous system. Thus the symptoms are focused in the following areas:
Knowledge of the disease by family members who live with the patient must be a fundamental objective to achieve by health professionals in charge of these cases.
On July 1 of the year 2007 was born Syndrome Rett (IRSF) International Foundation, an organization nonprofit that provides support to patients, families, and researchers to promote knowledge of the pathophysiology of the disease and find an effective treatment against it.
Currently many trials are being conducted in animal models such as mice, in which stop the course of the disease and even reverse its effects on neurological development is achieved. The scientist in charge of such investigations is the Dr. Adrian Bird, who is also Professor of Genetics at the University of Edinburgh; the MECP2 gene at the beginning of the 1990s was discovered in his laboratory.
No treatment medical has shown results satisfactory in the treatment of this syndrome. Some drugs that have been tested to treat Rett syndrome are:
Often merges with autism, paralysis with delays in development without a source or cerebral clear Rett syndrome.
The cause of Rett syndrome is an alteration (mutation) in the gene MECP2 (methyl-CpG-binding protein 2), located in the locus (position of a gene within a chromosome) q28 of Chromosome X. Through this gene produces a protein (called MeCP2) which is widely distributed at the level of the cell nucleus and is especially abundant in mature neurons of the central nervous system. This protein plays an important role in the regulation of Synapse (communication between neurons) and is essential in the development of the nervous system after the first months of life. There are more than two hundred mutations described in this gene, however is not known exactly how works the abnormal protein that encodes the mutated gene to produce the disease.
Although Rett syndrome is genetic cause, by about ninety-nine percent of the cases the mutation appears in the patient spontaneously during its embryonic development in the womb, therefore it has not inherited it from their parents. In one percent of the remaining families with Rett the defective gene has been transmitted from women carrying the mutation towards their children. Scientists are still trying to understand the process of inheritance in this complicated disease.
In relation to its prevalence, this disease is classified into the Group of rare diseases and occurs in one of every 10,000 newborns live female, being the second most common cause of mental retardation in this sex.
It is usually diagnosed during the first two years of life, it is essential to indicate treatments aimed to improve psychomotor retardation presenting patients, since changes in the normal patterns of social and mental development begins between six and 18 months.
When the mutation appears in newborn male disease is usually very aggressive, because children have a single X chromosome and they die during the first days of life.
Symptoms of Rett syndrome
The symptoms of Rett syndrome usually appear after a period of apparent normal development, which has a duration of approximately six to eighteen months, passed this time is when it starts a period of stagnation or slowdown in the development of the child, are alterations of the March and the characteristic of the washing of handsstereotyped or repetitive movements, which are the most obvious signs of Rett syndrome.It is important to highlight that this disease is not a disease neurodegenerative, but a disease of the brain development, therefore altered all its functions are: the development of cognitive, sensory, motor, emotional and Autonomic (sympathetic and parasympathetic) nervous system. Thus the symptoms are focused in the following areas:
- Learning (with difficulty remembering facts, understand ideas or solve problems).
- Language (delay in the acquisition of speech).
- Mood (children with easy, inconsolable crying, irritability).
- The movement (apraxia or inability to control movements and loss of muscle tone).
- Breath (abnormal breathing patterns: apnea, hyperventilation, etc).
- Cardiovascular functions, specifically altering the conduction of the nerve impulse through the heart cells resulting in disorders of heart rhythm as a slowing of the heart rate (bradycardia) or other arrhythmias.
- Chewing, swallowing and digestion of food. Alterations in these functions of the gastrointestinal tract occur as a result of the malfunction of the autonomic nervous system that regulates them. This results in difficulty swallowing, bruxism (grinding your teeth involuntarily), involuntary movements of the tongue, constipation, abdominal pain, gastroesophageal reflux or stones in the gallbladder, even to the point that many girls rely on a stomach tube for feeding.
- Epilepsy: seizures in more than fifty percent of patients with an age of onset ranging from three to five years can be seen. Seizure type more common in these patients are generalized tonic-clonic.
- Scoliosis or deviation of the spine in a seventy-five per cent of the cases.
Diagnosis of Rett syndrome
The diagnosis of Rett syndrome can be difficult, because it is a disease of low prevalence that may be confused with other more common pathologies affecting the psychomotor development of children. Clinicians must apply for various tests that guide the differential diagnosis, such as:- Hemogram, determination of liver proteins in blood (proteinogram), electrolytes, urea, creatinine, enzyme (transaminase), ceruloplasmin (copper carrier)...
- Hormone tests to assess the thyroid gland.
- Determination of the karyotype.
- Tests that assess the physiology of the brain (such as the electroencephalogram), muscles and nerves (such as electromyography), or the conduction velocity of sensory nerve impulses (such as evoked potentials). Evoked potentials measured nerve conduction from some sense organs to the brain. In Rett syndrome, there may be a slowing of this nerve impulse that reaches the brain after an auditory or visual stimulus.
- Studies of cerebrospinal fluid.
- Image, such as computed tomography and magnetic resonance studies.
- Laboratory confirmation test is a genetic test in the patient's blood to detect the presence of the mutation in Chromosome Xin their DNA. This is carried out a test known as reaction by polymerase chain (PCR) and direct sequencing of the gene.
Treatment of Rett syndrome
There is no specific treatment for Rett syndrome, patients affected by the disease should be treated by a multidisciplinary team of specialists such as pediatricians, neurologists, physical therapists, therapists of language, psychologists and psychiatrists among others. They must be inserted in educational, social and recreational activities both at home and in their communities. This can facilitate learning and improve to some extent wandering, language, motivation, etc. They are also required physiotherapy treatments and programs to improve the manual activity and communication, to decrease muscle stiffness, to decrease anxiety, etc.Knowledge of the disease by family members who live with the patient must be a fundamental objective to achieve by health professionals in charge of these cases.
On July 1 of the year 2007 was born Syndrome Rett (IRSF) International Foundation, an organization nonprofit that provides support to patients, families, and researchers to promote knowledge of the pathophysiology of the disease and find an effective treatment against it.
Currently many trials are being conducted in animal models such as mice, in which stop the course of the disease and even reverse its effects on neurological development is achieved. The scientist in charge of such investigations is the Dr. Adrian Bird, who is also Professor of Genetics at the University of Edinburgh; the MECP2 gene at the beginning of the 1990s was discovered in his laboratory.
No treatment medical has shown results satisfactory in the treatment of this syndrome. Some drugs that have been tested to treat Rett syndrome are:
- L-dopa, which apparently improves the rigidity of the muscles;
- Naltrexone, an opioid derivative used to treat alterations of the respiratory rhythm, seizures and irritability;
- Bromocriptine, which can reduce the involuntary movement of the hands;
- Some essential amino acids such as tryptophan, tyrosine and L-carnitine to increase the synthesis of neurotransmitters by neurons.
Treatment of the complications of Rett syndrome
In any case, the effectiveness of all these treatments is scarce and little lasting, for which treatment is often aimed at treating the complications of the disease. Like this:- They may be necessary antiepileptic drugs, including carbamazepine, valproic acid, lamotrigine, or topiramate, preventing seizures.
- Some patients with severe swallowing problems may require the insertion of a tube into the stomach to provide nutrition.
- In the case of gastroesophageal reflux, they are necessary antacids or other anti-reflux medications.
- Are also often recommend diets highly caloric, to improve nutrition, and preventive treatment of osteoporosis with supplements of calcium and vitamin D.
- Also have to treat constipation, possible sleep disorders, etc.
- Sometimes surgery is needed to correct scoliosis or gastroesophageal reflux.
- It is very important to identify possible heart rhythm disorders which would endanger the life of the patient. Sometimes antiarrhythmic drugs can be given to reduce the risk of arrhythmias. It must be borne in mind that some medications increase the risk of arrhythmias in these patients. It is therefore advisable to consult your doctor before any drug to these patients.
Published for educational purposes