Rett Syndrome is a neurological disorder that affects genetically based, almost entirely female, decreasing their life expectancy. Its main consequence is that a regression in development, especially in the areas of expressive language and hand use. Its incidence is very low among the population which causes often misdiagnosed as autism or cerebral palsy.
The symptoms manifest themselves differently in each person and are not visible, usually until after the first 6-18 months of life. We stand out among them:
- Apraxia.
- Respiratory problems that worsen with stress or during sleep.
- Change in development.
- Excessive salivation and drooling.
- Tips flabby body.
- Learning difficulties.
- Scoliosis.
- Seizures.
- Difficulty gripping objects with hand and unsteady gait.
- Slow growth of the head.
- Constipation and gastroesophageal reflux continuing and serious.
Diagnosed through genetic testing is possible, though not always effective because in many cases there are signs that can identify any genetic, so it is very important to watch for symptoms. Thus, we distinguish three types of Rett syndrome: atypical, classic or temporary.
Currently there is no drug that can prevent the development of this pathology, although it is known that symptoms improve with adolescence. However physiotherapy and music therapy have become good partners to improve the quality of life of sufferers. Also, depending on the case, may be necessary to use drugs in order to solve some associated symptoms such as constipation or seizures.
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Rett Syndrome is a neurological disorder that affects genetically based, almost entirely female, decreasing their life expectancy. Its main consequence is that a regression in development, especially in the areas of expressive language and hand use. Its incidence is very low among the population which causes often misdiagnosed as autism or cerebral palsy.