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.

  • Development stop phase: usually appear when children are 6 to 18 months. Children often manifest signs of movement retardation such as reducing interest in playing compared to before, limiting communication with others through the eyes. Parents can often notice children more calm than children of the same age, however, signs in this period are often unclear.
  • The stage of damage or rapid degeneration: takes place when the child is 1 to 4 years old, lasting a few weeks or a few months. The lesions are fast, so the disorders are clearer. Children lose their ability to communicate in language or light, cannot use their hands, do not perform the movements that they can previously do. Other abnormalities such as breathing disorders, convulsions, sleep disorders may also appear. Parents often clearly memorize children's abnormalities during this period.
  • Stabilizing phase: Typically in children from 2 to 10 years old. Many improvements in movement and behavior of children are recorded although disorders still exist. Eating and epilepsy issues are also recorded. Stabilization period usually lasts for many years.
  • Late movement injury: typical appearance in children over 10 years old. The dysfunction of movement, muscle disorders continues to progress heavily. Lesions in awareness, communication are often stable or improved.

    • 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:

  • Reducing motor ability: Rett syndrome is usually the first manifestation of reducing the ability to control the hand, failing to perform normal coordination movements such as cows or travel. The fast movement disorder corresponds to the fast degeneration stage, then continue to be more slowly. The final consequence is often reduced muscle strength, muscle tone disorders, leading to abnormal postures and movements, even paralysis.
  • Reduce or lose the ability to communicate: The ability to communicate with the eyes, gestures or language of the child is affected. Parents often find children "calm" than their age, indifferent to the surrounding environment. In some cases, children lose their ability to speak suddenly. Instead, later children can develop non -linguistic communication skills.
  • The abnormal movement of the eye: The eye movement muscles are also often affected and leading to abnormalities such as regular blink of an eye, squinting or staring.
  • Abnormal hand movements: Children with RETT syndrome often have uninvited hand movements, indefinitely such as twisting, typing, rubbing
  • Stimulation, irritability, expression of weird facial expressions

    • Respiratory disorders: When children are awake, respiratory disorders can appear such as increased breathing, exhalation too strong with saliva

  • Abnormal awareness, reduced intellectual ability
  • Slow growth: The first round is smaller than the normal size is the first sign. In the following years, children have slow growth, manifesting body due to other eating disorders. 

    • 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:

  • Genetic analysis: When there are all clinical diagnostic criteria, if the mutation is detected on the gene of the gene, an accurate diagnosis of the RETT syndrome can be established. The severity of the disease can also be prognosis based on this test.
  • MRI of the brain: Detecting lesions such as reducing the size of the cerebral cortex, cerebellum atrophy in most children. However, these characteristics are not specific to RETT syndrome.
  • ECG measurement (ECG): The patient of RETT syndrome has a high rate of other elevation. ECG helps detect abnormalities such as slow heart rate, reverse wave, long -lasting QT.

    • EEG (EEG)

  • Neurological physiological test: hearing test, sensory, electromechanical.
  • Respiratory signs

    • 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:

  • Using drugs: Commonly indicated drug groups such as epilepsy drugs (carbamazepine, valproic acid, topiramate), sedative drugs, anti -vomiting drugs.
  • Surgery: Patients may need to be placed with gastric catheter to nourish, or orthopedic surgery if suffering from scoliosis

    • Rehabilitation

    Physiotherapy

  • Language therapy

    • behavioral therapy

  • Occupational therapy

    • Nutrition guarantee

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