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DESCRIPTION
The first found description of this syndrome was in the writing of a doctor called Andreas Rett that it was fixed in two girls who, sat in his waiting room, were twisting his hands of similar form.
Today, general consensus exists on the diagnostic characteristics of the syndrome. The girls endure it only and the symptoms appear after a seemingly normal development so many prenatalmente as during 6 18 months after life. Analyzing in depth there can be appreciated indications of which even in this stage the development is lower than the normal thing. In some moment between 6 months and four years of life, the growth of the head reduces his rhythm, the development deteriorates psicomotor, and the way of walking is untidy. Also the language seems to be spoiled seriously in his both expressive and receptive aspects, and there appears the symptom of the hands that Rett observed for the first time.
Between other habitual symptoms we find: Malfunctions in the respiration, anomalies in EEG with or without clear attacks, serious scoliosis of the spine, muscular weakening and spasticity. These girls become seriously latecomers with such shortcomings motorboats that end in wheelchair. In those who survive and come to adults, there becomes stable the boss of deterioration of the symptoms, and it is possible that they improve these, topcoat if there is treatment. During the first periods error usually happens in the diagnosis, confusing it with the autism, another disorder of the development.
DIAGNOSTIC CRITERIA
The patient has to fulfill the following criteria to be able to be diagnosed of Rett disorder as it names it the manual:
- All the following characteristics:
- prenatal development and perinatal seemingly normal.
- I develop psicomotor seemingly normally during the first 5 months after the birth.
- normal cranial circumference in the birth.
- Appearance of all the following characteristics after the period of normal development:
- deceleration of the cranial growth between 5 and 48 months of age.
- loss of intentional manual skills previously acquired between 5 and 30 months of age, with the subsequent development of manual movements stereotyped (p. ej., to write or to wash his/her/its hands).
- loss of social implication in the beginning of the disorder (although often the social interaction develops later).
- bad coordination of the march or of the movements of the trunk.
- expressive and receptive language development seriously affected, late psicomotor seriously.
CHARACTERISTICS
Today, general consensus exists on the diagnostic characteristics of the syndrome. The girls endure it only and the symptoms appear after a seemingly normal development so many prenatalmente as during 6 18 months after life. Analyzing in depth there can be appreciated indications of which even in this stage the development is lower than the normal thing. In some moment between 6 months and four years of life, the growth of the head reduces his rhythm, the development deteriorates psicomotor, and the way of walking is untidy. Also the language seems to be spoiled seriously in his both expressive and receptive aspects, and there appears the symptom of the hands that Rett observed for the first time.
Between other habitual symptoms we find: Malfunctions in the respiration, anomalies in EEG with or without clear attacks, serious scoliosis of the spine, muscular weakening and spasticity. These girls become seriously latecomers with such shortcomings motorboats that end in wheelchair. In those who survive and come to adults, there becomes stable the boss of deterioration of the symptoms, and it is possible that they improve these, topcoat if there is treatment. During the first periods error usually happens in the diagnosis, confusing it with the autism, another disorder of the development.
CAUSES, PREDOMINANCE AND TREATMENT
There are proofs that it is a question of a genetic disorder, although there still has not been any biological scoreboard of this degenerative disorder. What if it is known is that these girls do not present any other well-known degenerative illness. This disorder is much less it frequents that the autism.
They have applied different skills to themselves for the treatment, but they have not managed to stop the deterioration. Nevertheless the treatment can be a cash in the cases that come at the adult age.
WHAT DOCTOR CAN TREAT ME?
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