Intellectual disability and/or autism [1796 genes]

Intellectual disability consists of incomplete mental development, which entails a limitation in general mental abilities, intellectual functioning, adaptive behavior and functional skills, compared to individuals of the same age, sex and sociocultural environment. These limitations can be observed in many areas, such as communication, self-care, self-governance, and functional academic skills, among others.

Intellectual disability may appear as an isolated trait (non-syndromic intellectual disability), or associated with facial dysmorphic features, other morphological anomalies, multisystem disorders, multiple neuropsychiatric and/or neurobehavioral problems, such as autism or epilepsy, or neuromuscular features, for example: ataxia, spastic paraplegia, sensory or motor neuropathy and muscular dystrophy (syndromic intellectual disability).

Intellectual disability affects 1-3% of the population.

The intellectual disability service includes genes with high evidence related to syndromic and non-syndromic forms of intellectual disability. Genetic diagnosis in this clinical context offers a greater understanding of the reasons for a child’s illness, with the existential importance that this has, as well as an enrichment in the prognostic information about the disease.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities in syndromic patients or, exceptionally, to detecting a treatable form of intellectual disability.

Service indicated in the presence of an intellectual disability, regardless of its syndromic nature or not and its severity. This service is recommended and not the research panel, when you want to obtain a high level of certainty in the conclusions and therefore minimize data of uncertain meaning, in order to minimize the potential deleterious effects of excess information.