Rett syndrome [RTT] or cerebroatropic hyperammonemia is a rare disorder that affects the way the human brain develops and functions. It is an infrequent condition that affects about one in 10,000 to 15,000 girls, but it is sometimes found in male patients. Although Rett syndrome is an uncommon genetic disorder, less than one percent of recorded cases are passed from generation to another. Most of the cases are natural, meaning that mutation is the core cause of the condition.
Rett syndrome is described by scientists in four stages. Stage one or the early onset begins between 6 and 18 months of age. This stage is commonly unnoticed as the symptoms are rather elusive. Doctors and parents fail to notice them. Infants may show less eye contact or lack of interest in toys or experience delays in motor skills like crawling or sitting. Stage two or the rapid destructive phase commences between age of 1 and 4 years and may last for months. At this stage a child may experience loss in determined spoken language or hand skills and breathing abnormalities.
Stage three or the pseudo-stationary phase of Rett syndrome begins at the age of 2 to 10 years and can last for years. Motor issues, apraxia and seizures are quite common during this stage. A girl at this stage may experience interest in the environs, improved communication skills, alertness and less autistic traits. Stage four or the late motor decline phase entails noticeable features such as reduced mobility, scoliosis, muscle weakness, and abnormal posturing of arms. Cognition and communication do not decrease at this stage.
Rett syndrome is genetically caused by mutation in the Methyl CpG Binding Protein 2 [MCEP2] gene located on the X chromosome. RTT can also arise intermittently and a typical form of the disorder characterized by infantile spasms or early epilepsy can be caused by mutation of the gene encoding Cyclin-Dependent Kinase-Like 5 [CDKL5]. The MECP2 gene is essential for development of brain and also acts as a biochemical switch that increase gene expression leading to unique protein production.
Most of the Rett syndrome symptoms are elusive and they vary with age. At each stage, the patient exhibits different symptoms. Here are a number of signs and symptoms of RTT and they are;
- Loss of speech and motor control
- Hand skills replaced by compulsive hand movements
- Desolate crying
- Avoidance of eye contact
- Difficulties in breathing
- Bruxism[ grinding of teeth]
- Severe digestive problems
- Microcephaly [abnormal growth of head]
- Fragile bones and scoliosis
- Extreme anxiety
- Hypotonia and
Currently, there is no cure for Rett syndrome. However, studies on the disorder have shown that restoring MECP2 gene function can present a great cure. Doctors can easily diagnose RTT by observing signs and symptoms at every stage of growth and development. A focus on the management of the symptoms and relying on a multidisciplinary plan can aid reduce the RTT defects. Parental counselling, modifying social medications, sleep aids, management of gastrointestinal and nutritional difficulties, increase patient communication skills, surveillance of scoliosis, anti-psychotics and physical therapy are exclusive ways that can aid control the effects of Rett syndrome.
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