Intellectual disability with regression [608 genes]

Neurological regression involves the loss of previously achieved developmental milestones. Different progressive encephalopathies are included under this concept. Within this broad group there are some inborn errors of metabolism, different diffuse encephalopathies, white matter disorders (leukodystrophies), diseases of the cerebral cortex, basal ganglia or certain spinocerebellar disorders.

Regression is a characteristic clinical sign, which can serve as a guiding clinical sign in the diagnostic process among the multiple known neurodevelopmental disorders. This service would be recommended when a global developmental delay or an intellectual disability and clinical signs of neurological regression are evident, thus focusing the study on a more specific group of disorders. Genetic diagnosis is very useful to reach a definitive diagnosis and convey prognostic information to families.

The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis, enriching the prognostic information about the patient and in some cases, adapting the patient’s treatment. Likewise, they are used for family genetic counseling.

Recommended service when neurological regression is noted in the clinical history. It would be indicated in parallel to the rest of the initial complementary examinations with the aim of shortening response times.