Abstract

ACOSTA, Maria Teresa. Neurodevelopmental disorders: from the laboratory to the classroom. Medicina (B. Aires) [online]. 2022, vol.82, suppl.1, pp.6-10. ISSN 0025-7680.

Neurodevelopmental disorders are the most common diagnosis in the clinical practice in child neurology. Since the 70’s the terminology used for the diagnosis of these conditions, was developed with the goal of obtaining better ser vices for those individuals affected. Over the years the classification has changed but the fundamental process for diagnosis continues the same. There is a new movement aiming to change the current classification and propose a new one based in the molecular deficits associated with the clinical phenotype rather than a collection of symptoms. This new approach focusses on the identification of the molecular defectcausing of the specific to design targeted interventions that will promise a curative approach, rather than the current symptom-based interventions available. Important progress has been done alrea dy, given the high association between cognitive/ compartmental phenotype in some well-known genetic defects like Neurofibromatosis, TSC, Down syndrome, and the high association between different cognitive/compartmental phenotype in rare diseases. The future will hold opportunities to properly identify the molecular deficit and a tailored intervention for those conditions today called Neurodevelopmental disabilities.

Keywords : Phenotype; Neurodevelopmental disabilities; Biomarkers.

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