Abstract

TIRADO MELERO, M. et al. Intelectual disability of genetic cause: observational study in an urban primary health care center. Rev Pediatr Aten Primaria [online]. 2015, vol.17, n.68, pp.309-315. ISSN 1139-7632.  https://dx.doi.org/10.4321/S1139-76322015000500004.

Introduction: we reviewed the number of neurodevelopmental disorders in the pediatric population of a primary care center in Zaragoza, in order to determine the prevalence and the growing importance of genetic diagnosis. Material and methods: the research was carried out in the computerized medical record program OMI6 with the following terms: "mental retardation", "development delay", "development disorders" and "autism spectrum disorders". Results: 76 cases of neurodevelopment disorders were found, which mean 2.19% of the population study. The main diagnoses were: 23 language disorders, 17 learning disorders, 11 mental retardation, 10 cases of autism, 8 development delay, 5 cases of dyslexia, 1 case of Asperger's syndrome and 1 case of dyspraxia. A genetic study was requested in 21 cases (27.63% of the children), being more frequent the implementation in cases of mental retardation or autism. The genetic test provided diagnosis in 12 patients of the study (57.14% of the cases). A genetic cause was found in the 75% of the cases with an established diagnosis. Conclusion: this study shows that neurodevelopmental disorders appear in our population with a similar frequency as described in the literature. Genetic studies increasingly produce precise etiological diagnosis.

Keywords : Mental retardation; Developmental delay; Autism spectrum disorders; Genetic tests.

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