Estudio de la influencia e interacción del riesgo poligénico y factores ambientales en la gravedad y tipología de pacientes con Trastorno del Espectro Autista

Résumé

Autism Spectrum Disorders (ASD), according to the most recent estimates, have a prevalence of over 1%. They are a group of neurodevelopmental disorders with a multifactorial aetiology, where, from a genetic point of view, the risk derived from common variants is combined with the risk associated with rare variants present in a substantial minority of cases. In recent years, research into the various aetiological mechanisms has progressed, mainly in the area of possible underlying genetic bases. Another branch of research has focused on the possible presence of environmental risk factors or predisposing factors for the development of ASD related to parental characteristics and obstetric conditions, previously associated with other neurological and psychiatric disorders. The interaction of environmental factors with genetic risk in the appearance and type of autistic symptomatology is a very topical field of study. At the clinical level, ASD is characterised by social and communicative deficits, as well as the presence of stereotyped and repetitive behaviours, interests or activities. As knowledge about the biological basis is still scarce, it is on these clinical characteristics that diagnostic criteria are currently based. This doctoral thesis is subdivided into three independent but related studies: 1) Parental autism traits, age at conception and polygenic background in Autism Spectrum Disorders (ASD), 2) Maternal stress during pregnancy as a predictor of restricted, repetitive and stereotypic symptomatology in ASD offspring, 3) Oxytocin exposure in labor and its relationship with cognitive impairment and the genetic architecture of autism...