Rett syndrome, causes and symptoms: an early diagnosis is essential

Rett syndrome is a rare neurological pathology that usually manifests itself in the first months of life: let's see the causes, symptoms and treatment.

A very serious neurological disease, Rett syndrome can easily be confused with autism. Unfortunately, it is a disease that is still poorly understood, but research is making great strides. Let's see what are the causes, symptoms and treatment.

Rett syndrome: what it is and what the symptoms are

Rare developmental neurological disease, Rett syndrome (RTT) mainly affects females. Generally, it manifests itself after the first 6/18 months of life with symptoms that are impossible not to notice: loss of motor skills, manual skills and interest in social interaction. It is, therefore, a disease that affects the central nervous system and creates serious or very serious cognitive deficits.

To date, it seems that Rett syndrome is caused by the mutation of the MECP2 gene, located on the X chromosome. In some patients, however, the mutation of the CDKL5 and Netrin G1 genes is also found. It should be emphasized that it is a subtle pathology because, at first, the subject has a completely normal development. Subsequently, between 6 and 28 months, there is a kind of regression and some indicative behaviors appear, which are sometimes confused with those of autism. Around the age of 25, many patients with RTT developscoliosis . In any case, the evolution of the disease varies from person to person and is extremely variable .

Rett syndrome: diagnosis and treatment

As already mentioned, at first the Rett syndrome can easily be confused with autism, with a developmental delay or with other problems. Not surprisingly, the doctor will have to make a differential diagnosis , comparing the symptoms with those of other pathologies, such as Angelman's syndrome, or perinatal or postnatal brain damage.

Unfortunately, there is currently no cure for RTT. In any case, an early diagnosis is essential because it helps the patient to develop their abilities to the fullest. On the pharmacological side, useful medicines could be prescribed to improve the problems that this syndrome entails, such as: sleep disturbances, breathing difficulties and epileptic seizures .

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