IN Science magazine Translational Medicine published the results of a study of the capabilities of magnetic resonance imaging (MRI) in diagnosing autism in 6-month-old children. An MRI study of brain connectivity in infants at high risk for autism was found to successfully identify nine of 11 children who were subsequently diagnosed with autism spectrum disorder (ASD) at age two. Moreover, neuroimaging data allowed us to correctly diagnose the norm in all 48 infants in whom the diagnosis of ASD was subsequently rejected. On this moment There is no generally accepted way to diagnose ASD before the onset of behavioral symptoms, but these new findings support the hypothesis that patterns of brain development predisposing to autism are present in children long before they develop typical ASD behaviors at approximately 2 years of age. According to the authors of this work, this opens up opportunities for early intervention, which may be significantly more effective than modern strategies corrections, which, as a rule, begin after two years, when atypical characteristics of the brain have long been formed.
This study was sponsored by National Institute children's health and human development, as well as the National Institute mental health USA. As part of this work, a team of scientists from the University of North Carolina and the Washington University School of Medicine tested a 15-minute scanning protocol called functional connectivity MRI (fcMRI) on 59 sleeping children with a high genetic risk of ASD, namely, those with older siblings with RAS. Having a sibling with autism is known to increase a child's risk of developing ASD to approximately 20%, while for children without siblings with ASD the risk is approximately 1.5%.
Estimated at this study functional connectivity of the brain allows us to judge how various departments the brain can function synchronously while performing certain tasks or at rest. As part of a larger project that has been ongoing for 10 years, the researchers collected a large amount of data on 26,335 pairs of functional connections between 230 different brain regions. After scanning, the authors used a self-learning computer program to decipher fcMRI data, with the help of which algorithms were developed to identify patterns that were selected as predictors of ASD. At the same time, among all functional connections, we selected those that correlated with at least one behavioral feature associated with ASD, which appeared in the study participants when examined at 24 months (among them were skills social behavior, speech, motor development and repetitive behavior). According to the comments of the authors of the work, from the picture obtained with fcMRI at rest, one can judge how different parts of the brain will interact under the most extreme conditions. various types activity - from limb movements to social interaction, and the very complex patterns that emerge can be both typical and atypical.
Overall, the diagnostic accuracy of the self-paced program for identifying infants who would go on to develop ASD using fcMRI was 96.6% (95% confidence interval [CI], 87.3% - 99.4%; P<0,001), с положительной предсказательной ценностью 100% (95% ДИ, 62,9% - 100%) и чувствительностью 81,8% (95% ДИ, 47,8% - 96,8%). Более того, в исследовании не было ложноположительных результатов . Все 48 детей, у которых впоследствии не было выявлено РАС, были отнесены в правильную категорию, что соответствовало специфичности 100% (95% ДИ, 90,8% - 100%) и отрицательной предсказательной ценности 96% (95% ДИ, 85,1% - 99,3%).
Of course, these are very early results, which will subsequently need to be confirmed in larger populations. In fact, one such study, the European Autism Interventions study, is already underway, also scanning the brains of at-risk infants to better understand the biology of ASD and ultimately develop pharmacological treatments.
In addition, according to the authors of the now published work, the fcMRI technique they used, followed by interpretation of the results by a self-learning computer program, is unlikely to ever be suitable for routine mass screening of infants. Most likely in the future as a screening for group identification high risk Some cheaper method will be used (for example, detecting DNA in the child's saliva), and neuroimaging techniques will be used in the second stage to confirm a very high risk of autism.
How is everything going?
I am describing personal experience. At some point you “lose” your child. For us, this happened in the classic 1.5 years. Sasha, from a healthy baby and a well-known “my” child, turns into something completely different, into a “stranger” - he stopped doing everything.
The child began to: NOT eat, DO NOT play, DO NOT understand requests, DO NOT hear (although his hearing is fine), DO NOT do anything he did before.
The rush to see doctors, specialists, neurologists, psychologists, and defectologists began. Then, who will “reanimate” the child in what ways.
And now a “new” life is being reborn: learning new skills, a new diet, those who can speak will be potty trained, new games, new activities, NEW EVERYTHING.
And you are happy, extremely happy about new words, songs, that you no longer need diapers, that you begin to say or show what you want... Each of you, parents, has your own joys... and then... OPA!..
....he started peeing again, is silent again, doesn’t want much again, and even hysterics may appear..
The first time it was a real disaster for me:
Was everything I did in vain?
Has a year of my labors been in vain?
Will my child never get better?
Have you ever had this?? As far as I have studied the topic, many have. If not everyone.
And how should we feel about this?
I liked the idea of Stephen Cowan, a pediatrician with 25 years of experience, here’s what he says (even though he’s talking about neurotypical children, but I remember his words when Sasha has another “kickback”):
“Every child’s life has its own rhythm and rhythm - sometimes fast and loud, sometimes slow and quiet. And just as each spring brings us a renewed sense of the value of our lives, each new life stage brings new discoveries and wonders to the child. After all, learning something new is far from just a process of accumulating information. This is a process of rethinking it, a process of turning our knowledge into something new, and sometimes in order to look at something with fresh eyes, we must forget about it. This is why some children sometimes need to step back a little in order to make a huge leap forward.
Our life goes in a spiral, and this, first of all, means that we have more than one chance to learn something. With each new stage of life, we encounter the same lessons in new guises - again and again.
One must accept the idea that, in contrast to the perfect soul, the physical being is an imperfect entity, the progress of which is determined by mistakes and failures. It is the conflicts born of mistakes that provide energy for the continuation of evolution.»
There is also such a thing in sports. How do bodybuilders grow muscles? Micro-tears occur in muscle tissue due to strong tension. These micro-tears trigger the growth mechanism of muscle mass.
The exact causes of autism are unknown, but one of them may be due to organic changes in the patient's brain. To determine the cause of a brain development disorder, your doctor may order an MRI. Whether autism is visible on MRI, and in what cases this diagnostic method can be useful, read our article.
MRI for autism
In diagnosing autism, MRI is used to exclude organic causes of the disorder. If, as a result of the data obtained, it turns out that autism is not caused by structural (organic) changes in the brain, the attending physician will be able to turn to other diagnostic methods.
Autism of organic origin is accompanied by changes in areas of the brain that are clearly visualized on MRI. For example, difficulty or lack of communication skills may be caused by changes in the frontal and temporal lobes of the brain. With organic damage to the brain, asymmetry of the lateral ventricles can be observed.
How is MRI useful for brain developmental disorders?
Differential diagnosisIn some cases, autism may have clinical symptoms similar to other diseases. Thus, MRI scans can detect hydrocephalus, encephalopathy, hemorrhage, abnormalities in brain development, smoothness of the cerebral cortex and increased intracranial pressure characteristic of other pathologies. In addition, MRI reveals ischemic brain damage. Timely diagnosis of these pathologies will allow prescribing the most effective treatment.
Detection of tumorsOne possible reason for the development of autism may be the presence of a tumor in the patient’s brain. MRI is the most effective diagnostic method for detecting neoplasms, regardless of their location and degree. It is important to note that during the diagnosis there is no harmful radiation that can cause the growth of tumor cells.
MRI in early diagnosis of autism
In the journal Nature in February 2017, American scientists published the results of a study on early MRI diagnostics in children with autism. The researchers concluded that early MRI diagnosis opens up the possibility of surgical intervention and treatment, which may be more effective at the initial stage. For example, in children with suspected autism aged 6-12 months, an expansion of the surface of the brain (increase in its area and volume) was discovered. In this case, an atypical brain structure, as a rule, is formed by two years. According to scientists, timely diagnosis makes it possible to begin treatment immediately.
Researchers from the United States believe that by using brain scans of infants who have older siblings with autism, it is possible to make a fairly accurate prediction of whether the children studied will also develop autism or not.
The results of a recent study give scientists hope that there is a very real possibility of diagnosing children with autism spectrum disorder (ASD) even before they show the first symptoms. Previously, this goal seemed unattainable.
Moreover, the study opens up possibilities and prospects for diagnosing and perhaps even treating autism.
But first, let's figure out why it is so difficult to diagnose autism in children. Typically, a child will begin to show symptoms of autism spectrum disorder (such as difficulty making eye contact) after the age of two. Experts believe that brain changes associated with ASD begin much earlier—perhaps even in the womb.
But various techniques that assess a person's behavior cannot predict who will be diagnosed with autism, said the study's lead author, psychiatrist Joseph Piven of the University of North Carolina at Chapel Hill.
“Children who show signs of autism at age two or three do not appear as if they have autism in their first year of life,” explains Piven.
Many people wonder if there are any genetic “signatures” or biomarkers that could help predict the development of autism. It is noted that there are some rare mutations associated with autism spectrum disorder, but the vast majority of cases cannot be attributed to one or even a few genetic risk factors.
Back in the early 1990s, Piven and other researchers noticed that children with autism tend to have slightly larger brains than their peers. This suggested that brain growth may be a biomarker for autism spectrum disorder. But Piven and his colleague Heather Cody Hutzlett, a psychologist at the University of North Carolina at Chapel Hill, note that it's not entirely clear when exactly this overgrowth occurs.
Statistically, autism affects approximately one child in 100 in the general population. But infants who have an older sibling with autism face a greater risk: a 1 in 5 chance of developing ASD.
As part of the National Institutes of Health-funded Infant Brain Imaging Study, Piven and his colleagues scanned the brains of 106 high-risk children. The babies were 6, 12 or 24 months old at the time of the study.
Experts used magnetic resonance imaging (MRI) to see if they could “catch” this brain growth in action. In addition, they studied 42 children from the low-risk group.
Fifteen high-risk children were diagnosed with autism at 24 months of age. MRI scans showed that these children's brain volume increased more rapidly between 12 and 24 months compared to children who had not been diagnosed. Researchers say this increase occurred at the same time that behavioral signs of autism emerged.
Scientists also found changes in the brain at 6 and 12 months of age, even before ASD symptoms appeared. Cortical surface area, a measure of the size of the folds on the outside of the brain, grew faster in infants who were later diagnosed with autism. Again, in comparison with those children who were not given a similar diagnosis.
Perhaps the main question arises: is it possible to focus on these brain changes and use them to predict autism in children? Hutzlett and Piven's team then entered the MRI scan data (changes in brain volume, surface area and cortical thickness at 6 and 12 months of age), as well as the children's sex, into a computer program. The goal is to find out which babies are most likely to have autism at 24 months of age.
It turned out that brain changes recorded at 6 and 12 months (among children who had older siblings with autism) helped successfully identify 80 percent of all babies diagnosed with ASD at 24 months.
In other words, the researchers were able to correctly determine which infants were diagnosed with autism at age two in 80 percent of cases.
The authors clarify that their results still need to be confirmed in subsequent scientific work and with a larger number of high-risk newborns. In addition, they intend to use other imaging techniques to help detect early brain changes.
Other experts note that even if the results are reliable, the clinical application of such a technique may be quite limited. Specialist Cynthia Schumann of the University of California, Davis, says the findings only apply to high-risk infants, not the general population. She notes that other studies will be needed to test whether autism can be predicted in children who are not at risk.
Autism is characterized by difficulty communicating and speech disorders. Researchers from Columbia University (USA) have proposed a way to diagnose this mental disorder at an early stage - using MRI analysis of the activity of the speech analyzer in the brain.
Brain tomogram during an audio test; The most active areas are indicated in red, among which the auditory temporal lobes stand out. (Photo by Montreal Neurological Institute.)
According to statistics, autism and related mental disorders At least one child in 110 suffers, but there are still no clear diagnostic criteria that would allow detection of this disease in the early stages. The diagnosis is made based on external manifestations, of which there are many in autism spectrum disorders. Researchers from Columbia University in New York have proposed their own method for unambiguously diagnosing autism, based on the use of functional MRI.
One of characteristic signs of autistic disorders is a difficulty in communication, which sooner or later manifests itself in the child; Such children speak rarely and poorly and often do not seem to hear what others are telling them. The study involved 15 healthy children and 12 with speech impairments and obvious signs of autism; On average, all subjects were slightly older than 12 years. During a brain scan using a tomograph, they were given a recording of their parents speaking as if they were talking to them.
In healthy experimental subjects, in response to parental speech, activity of two brain areas- the primary auditory cortex and the superior temporal gyrus, which is responsible for understanding a sentence as an interconnected sequence of words. U autistic children The activity of the primary auditory cortex was the same as in healthy people, but the activity of the superior temporal gyrus was significantly lower. In other words, autistic people with speech impairments literally do not understand what is being said to them; they hear the sentence as a set of unrelated words. Differed in the same way brain activity in healthy and autistic children after taking sedatives: despite the effect of sedatives, the “language understanding” gyrus worked differently in both groups.
An article by researchers with the results of the experiments is being prepared for publication in the journal Radiology.
Autism Spectrum Disorders can be treated, but the key to success here is early detection of the disease. Perhaps the proposed method will significantly facilitate the diagnosis of autism precisely at the key, early stages of its development.
