Considering that the first descriptions of the syndrome occurred in 2013, a problem of under-diagnosis is likely to exist.

In Italy and in the world, there is an unquantifiable number of cases with a history of intellectual disability / delayed neuro-development / epilepsy / autism, without recent genetic screening.

The disclosure of Nexmif encephalopathy itself, with all its extremely variable manifestations, will be essential at all levels: families, pediatricians and other specialists, scientists, institutions, public opinion and pharmaceutical companies. Only in this way will it be possible to promote the research of a suitable therapy to treat all the aspects of this complex mutation.

Timely recognition of the mutation first signs is crucial to get to an early diagnosis and set up a complete management of the child at all levels: cognitive-behavioral and pharmaceutical.