West syndrome is a rare form of epilepsy. The first symptoms manifest themselves in neonatal age: the baby has involuntary spasms, after which they let themselves go to crying. In some cases, spasms are concomitant with a slowing of psychomotor development.

The severity varies from case to case: there are children who at one year old can not sit still. Despite some treatments block the spasms, it happens that the psychomotor delay remains.

The root cause of West's syndrome is a brain abnormality caused by:

• malformation;
• infection;
• lack of oxygen.

Sometimes the cause is genetic or cryptogenic, that is connected to anomalies not yet identified. The genes most affected by mutations are ARX and STK9, but the syndrome may also be linked to trisomy 21 or to a deletion of the 1p39 region on chromosome 1.

The diagnosis of West syndrome occurs through analysis of the clinical picture of the electroencephalogram. The available treatments are mainly pharmacological and serve to stop spasms. In this way a large part of the repercussions on development are avoided and, if all goes well, the child can recover the lost functions. Unfortunately, in 50-60% of cases West's syndrome is resistant to treatment.

Source: telethon.it