title: [Genetics applied to clinical practice in neurodevelopmental disorders].
abstract: The medical literature contains a wide body of evidence supporting genetic involvement in neurodevelopmental disorders. Advances made in genetics and technology have increased the diagnostic cost-effectiveness of current studies from 3-5% to 30-40% in patients with intellectual disability or autism spectrum disorders. In this regard, chromosomal microarray studies display greater diagnostic power than conventional techniques (karyotype, subtelomeric analyses, etc.). The latest protocols in the biomedical field of the genetic study of these disorders cite chromosomal microarrays as the first-line analysis, while also recommending other specific studies depending on the patient's clinical features (fragile X syndrome, PTEN mutation, etc.). In the evaluation of other neurodevelopmental disorders (attention deficit hyperactivity disorder, learning disorders, etc.), the number of genetic tests carried out is limited and conditioned by the clinical characteristics or the patient's familial or personal history. Even in these situations, there are no genetic referral or evaluation protocols.
authors.affiliation: Hospital Quiron, Pozuelo de Alarcon, Espana.
authors.forename: Alberto
authors.initials: A
authors.lastname: Fernández-Jaén
authors.forename: Juan C
authors.initials: JC
authors.lastname: Cigudosa
authors.forename: Daniel
authors.initials: D
authors.lastname: Martín Fernández-Mayoralas
authors.forename: Javier
authors.initials: J
authors.lastname: Suela
authors.forename: Ana L
authors.initials: AL
authors.lastname: Fernández-Perrone
authors.forename: Beatriz
authors.initials: B
authors.lastname: Calleja-Pérez
authors.forename: Sara
authors.initials: S
authors.lastname: López-Martín
mesh_terms: D000465:Algorithms; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D000067877:Autism Spectrum Disorder / Q000235:genetics; D002648:Child; D055028:Comparative Genomic Hybridization; D018628:Gene Dosage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D046228:Microarray Analysis; D065886:Neurodevelopmental Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D063189:Symptom Assessment