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Rett syndrome is a rare neurodevelopmental disorder caused by errors on the X chromosome, mainly affecting girls. It has four stages, with symptoms including developmental and neurological problems, behavioral issues, and mobility problems. While there is no cure, treatments can manage symptoms and improve quality of life.
Rett syndrome is a rare disease that occurs mainly in girls. Cases of the syndrome were first described by Andreas Rett in 1966, with further cases reported in the 1980s, leading to widespread recognition of Rett syndrome in the medical community. This condition is a sex-linked disorder involving errors on the X chromosome and is much more common in girls than boys, mainly because male fetuses with Rett syndrome usually die before birth.
This neurodevelopmental condition is not inherited, but rather caused by errors in fetal development leading to abnormalities on the X chromosome. In very rare cases, a mother with a mild case who is asymptomatic can pass a damaged X chromosome to a baby, causing a hereditary case of Rett syndrome. Genetic testing can confirm a diagnosis of Rett syndrome, although symptoms are usually sufficient for a doctor to make a confident diagnosis.
There are four stages to this condition. During early development, the child is normal, reaches expected developmental milestones, and behaves as expected. In the early onset stage, however, the child begins to have problems with muscle coordination and may show the first signs of what may appear to be autism. The early onset stage of Rett syndrome usually occurs between six and 18 months of age, and the condition may not be diagnosed early because symptoms are subtle.
In the rapid destructive phase, the patient begins to experience extreme developmental and neurological problems which include slowed growth of the hands, feet and head. The patient may develop heart abnormalities, seizures, muscle weakness, breathing problems, scoliosis, an increasing lack of coordination, and behavioral problems. Some patients remain non-verbal.
During the plateau phase, the patient reaches a fairly stable point, with no further degeneration or progression. Eventually, in the late motor impairment stage of Rett syndrome, the patient begins to have severe mobility problems. Cognition may improve slightly during this stage.
Rett syndrome cannot be cured, but there are treatments that can be used to manage the condition and to keep the patient comfortable. Treatments revolve around treating symptoms as they arise and providing occupational, physical and psychological therapy to the patient to improve socialization and motor skills. The severity of Rett syndrome can vary, as with many genetic conditions, depending on individual variations within the patient. Some patients are severely impaired, while others may enjoy more normal function; in all cases, therapy can help the patient live a more active and happy life.
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