Resumen

ARBERAS, Claudia. Genetics of neurodevelopmental disorders. Practical aspects. Medicina (B. Aires) [online]. 2022, vol.82, suppl.3, pp.25-29. ISSN 0025-7680.

Neurodevelopmental disorders (NDD) constitute a relevant group of pathologies, of childhood, with a biological basis and totally or partially genetic etiology. The recognition of the causal factors constitutes a challenge that has been perfected over the last decades, until obtaining an increasing diagnostic yield. The implementation of these technological advances can only be achieved through the formation of interdisciplinary work teams, which, following an or derly process, achieve a presumptive diagnosis, which is then certified using the techniques that for each of the cases are more profitable in terms of quality and cost. In this paper we list these procedures, based on different scenarios that highlight the extensive menu of possibilities and the need to manage them in a rational way, on well-founded scientific bases.

Palabras clave : Neurodevelopment; Autism; Intellectual disability; Global developmental delay; Genetic testing.

        · resumen en Español     · texto en Español     · Español ( pdf )