A genetic megaestudio reveals to what extent we continue to know little
Epilepsy is a disease of which We have a lot to investigate To be able to better understand everything behind. And little by little we are advancing in them. Specifically, an international team of researchers has put in check the idea that autism is only one type. In a study Published in Nature, it has been revealed that autism diagnosed in the early stages of life has a genetic development profile different from that which is diagnosed late. This finding not only explains part of the Huge diversity Within the spectrum, but it forces us to rethink how we understand, diagnose and investigate. What did we know. Until now, it was known that the age of diagnosis of autism varies greatly. Although it can be detected from 18 months, many receive their diagnosis in late childhood or even adulthood. It was thought that this was mainly due to social factors, clinical or the subtlety of symptoms. However, this new study shows that there is something deeper: a different genetic basis. The discovery. The study, which has been categorized as one of the greatest facts in history, analyzed the genetic and behavior data of more than 45,000 autistic people in Europe and the United States. The results are clear in this case: the polygenic architecture of autism can be divided into two great genetic factors that correlate with the age of diagnosis of this problem. Early diagnosis. This is the first factor and occurs when the genetic profile is associated with an earlier diagnosis and greater difficulties in social and communication skills during the early age of childhood. Interestingly, its genetic correlation with other mental health conditions such as ADHD It is moderate but significant. Late diagnosis. In the event that it is not done in the early stages of life, we are already in another genetic factor different from the first. In this case it is much more difficult to have socio -emotional and behavioral reactions during adolescence. The most striking thing in this case is that it presents a moderate to high genetic correlation with ADHD and other psychiatric pathologies such as depression, anxiety or post -traumatic stress disorder. In this way, as explained Varun Warrierneurologist at the University of Cambridge and main author of the study in statements To El PaĆs “the truth is that we did not expect such wide genetic variation between the profiles stratified by age at the time of diagnosis.” The behavior. These genetic profiles correspond to two different development trajectories observed in the participants. Using birth cohorts data, the researchers identified two patterns. The first is the one that arises in early childhood and is categorized by difficulties that appear soon and remain stable or decrease slightly in adolescence. People in this trajectory are more likely to be diagnosed in childhood. In a second point there is the one that arises in late childhood where people present less difficulties of young people, but these increase significantly when they grow until they reach adolescence. Why is it important. Uta Fith, one of the most expert in development disorders of the University College London, summarizes it for the SMC portal: “The article demonstrates that autism is not a unit condition. It makes it clear that children diagnosed early and those diagnosed later constitute two very different subgroups.” Fith goes further and directly attacks misinformation: “It is time to recognize that autism has become a disaster drawer of different conditions. If you talk about an ‘autism epidemic’, a ’cause of autism’ or a ‘treatment for autism’, the immediate question should be: what kind of autism do we speak?”. This discovery right now helps to explain why previous genetic studies on autism and ADHD showed contradictory results. The answer was in the average age of diagnosis of the samples used: at the highest age of diagnosis, the greater the genetic correlation between autism and ADHD. The weight of genetics. According to the investigation, the common genetic variants explain about 11% of the variation in the diagnosis age. It may not seem like a very high figure, but as Warrier clarifies, “it is similar or superior to most other factors that we have evaluated: concurrent language delays, intellectual disability, sex, socio -economic status of parents …”. In fact, individual sociodemographic and clinical factors rarely explain more than 15% of this variance. This does not make the rest of the diseases related to the disease less important. Access to Health, gender bias (Women are usually diagnosed later because they learn to disguise their behaviors), stigma or social camouflage remain crucial to understand when a person receives their diagnosis. In short, this study forces us to change the singular for the plural. Perhaps in the future let’s not talk about autism, but about autisms, each with their own genetic bases, development trajectories and support needs. A crucial step to offer more personalized help and to silence scientific populism that seeks unique and simple causes for a deeply complex condition. A very complex moment. Right now autism is in the mouth of many people, not only because Autism diagnoses is increasingbut also by Donald Trump’s statements that He blames to take Paracetamol In pregnancy as a risk factor of having this disease. Images | Alireza Attari Warren Umoh In Xataka | Bill Gates and the autistic spectrum: a family revelation that sheds light on its personality and success profession