Rett syndrome
Rett syndrome's disease overview
Rett syndrome is a severe but rare neurological disease, often found on girls. The average frequency of disease is from 1/10,000 to 1/20,000 girls, common in the age of 6 to 14. Men with this syndrome are very rare because of the high death rate in the womb is very high. . Patients with RETT syndrome may live until the age of 50-60 years with serious disorders. The cause of death in some cases related to complications of the disease such as pneumonia, arrhythmia. Rett syndrome was named after Andreas Rett, the first to describe it in 1965.
Rett syndrome usually first appears at 6-18 months of age and is clinically detected at about 2-4 years old, despite the previous period of children developing completely normal. Patients with RETT syndrome face neurological disorders, affecting the development of the brain and causing abnormalities of muscle use such as muscle, eye muscles and muscle pronunciation. .
Causes of the disease are shown to be related to changes in the Mocp2 gene on the X chromosome.
In addition, it is possible to classify RETT syndrome into two groups: typical RETT syndrome and not typical or oscillation.
Causes of Rett syndrome's disease
Causes of RETT syndrome is determined related to Methyl-CPG Binding Protein-2) on chromosomes X. However, the role of this gene in forming clinical symptoms Sound when transformed has not been understood. Genetic mutations often occur after the eggs are fertilized, which means that they are not inherited from the disease of the disease, but the opportunity appears in the process of growth and development.
gene mutations on X chromosomes can affect both sexes. However, a boy with RETT syndrome is rarely healthy until he was born, so he often saw the Rett syndrome in girls with higher frequency.
Symptoms of Rett syndrome's disease
Patients with RETT syndrome often face the following abnormal symptoms:
Respiratory disorders: When children are awake, respiratory disorders can appear such as increased breathing, exhalation too strong with saliva
Some other symptoms may be encountered: weak, thin, thin, broken skeletal system; scoliosis getting worse with age; Pain but difficult to manifest due to reduced communication ability; chewing disorders; seizures, epilepsy.
Symptoms of RETT syndrome are diverse and plentiful but often appear in children born from a healthy pregnancy and have the first months of normal development. So parents are often subjective, detected late. Clinical manifestations vary in each child, depending on the severity of the defects.
Transmission route of Rett syndrome's diseaseRett syndrome
Rett syndrome is a severe neurological disorders so parents are often very worried when having children with the disease as well as wondering if they are infected with their other children. . First, based on the cause of gene mutations on sex chromosomes X, it can be confirmed that Rett syndrome is not an infectious disease. Healthy children when playing with or using items with children with Rett syndrome will not be able to spread the disease.
Despite the disease related to genetic mutations, this disorder is not genetic. Genetic mutations appear randomly after embryo creation. Children with disease are not due to receiving disease genes from their parents.
People at risk for Rett syndrome's disease
Random gene mutations are the cause of the disease, so there is no risk factor that is determined to have a role in increasing the likelihood of disease. Although the disease is not inherited, it is necessary to pay more attention to children with relatives in the family with Rett syndrome.
Prevention of Rett syndrome's disease
There is no measure that helps prevent Rett syndrome. However, if children are found to have abnormal clinical symptoms, parents should quickly take children to medical facilities for timely examination and treatment advice. Not delaying the ability to access the health resources of children with the disease is the best way to help minimize the negative impact of RETT syndrome to a child's life.
Diagnostic measures for Rett syndrome's disease
Diagnosis of RETT syndrome needs to be coordinated with prehistoric exploitation, clinical symptoms and subclinical tests such as:
EEG (EEG)
Rett syndrome's disease treatments
There is no measure to help treat RETT syndrome. Current treatments are mainly applied to support the support and improve symptoms for patients. The treatment should be comprehensive, coordinated in many fields and last throughout the life of the patient.
A patient with RETT syndrome needs to be assessed and supported by many measures such as: Rehabilitation
Physiotherapy
behavioral therapy
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