Autism spectrum disorder: “rain children”

What is autism

Autism is a congenital disorder of psychological development that affects a person’s understanding and perception of the world around him, affecting relationships and communication with other people.4

Are children with autism sick or special?

Bugaisky Stanislav Evgenievich, pediatric neurologist and psychiatrist at the Be Healthy clinic:

“First of all, these are children. As for the “sick” or “special” moment, when you hear the phrase “my child is sick” from a mother, as a rule, such a targeted address implies the infectious nature of the disease (for example, ARVI). It is necessary to take into account that parents perceive information about the presence of a mental disorder in a child ambiguously (including extremely negatively, as evidenced by numerous media resources that “collect” patient reviews about the work of a particular doctor). Taking into account the various nuances that a practicing doctor encounters everywhere (for example, moral and ethical standards, client focus, etc.), it is permissible to use the term “child with special needs.” In any case, in the structure of interaction between doctor and patient, the tactics for monitoring children with autism remain unchanged, regardless of the chosen terminology.”

The International Classification of Diseases (ICD-10) states that this group of disorders is characterized by deviations in communication skills, social interaction, as well as a limited range of interests and range of actions.²

Autism spectrum disorder (ASD) is diagnosed in 18–19 out of every 1,000 primary school-aged children.3 The number of adults with autism is much smaller, accounting for less than 1% of the population in different countries.³ Although there may not seem to be many people with this condition, there has been a steady increase the number of cases of autism, including due to the development of methods for its diagnosis.

Initially, autism was called only a symptom - a disorder in the interaction of a person with objects in the environment. Now this term is used to describe a number of independent pathologies: autism itself (childhood autism, classical autistic disorder) and a whole range of similar disorders (atypical autism, Kanner syndrome, Asperger syndrome).

Children of the rain

In 1988, the American feature film Rain Man was released. It described the story of two brothers - the cynical Charles and Raymond, who suffered from autism. Since then, autistic children have been called “rain children.” On December 18, 2007, the UN General Assembly established World Awareness Day, which is celebrated annually on April 2.

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If you know one person with autism, then you know one person with autism. Stephen Shore , professor at Adelphi University (USA), diagnosed with autism

For the average person, when the term “autism spectrum disorder” (ASD) is mentioned, the image of the main character of the film “Rain Man” will most likely pop up in his head, and that’s probably all. In the post-Soviet space, the topic of ASD is not sufficiently covered, and diagnosis in most cases is far from perfect [1]. The number of children with autism spectrum disorders increases every year around the world. Doctors talk about various reasons: an improved diagnostic system, suspicion of the influence of early vaccination, the harmful effects of the notorious GMOs, and even the older age of future fathers. So what is ASD and what have scientists already learned about the reasons for its development?

Autism spectrum disorder ( ASD ) is a neurodevelopmental disorder characterized by deficits in social interactions and communication with the presence of stereotypies (repetitive behaviors) [2], and according to 2014 United States data, it is diagnosed in one in 59 children [ 3]. In Russia, the prevalence is one case per 100 children, but much fewer people receive an official diagnosis [1]. ASD is diagnosed across all racial, ethnic, and socioeconomic groups and is five times more common in boys than girls [4]. The cause of the disease is currently unknown, but it is thought to arise from a complex interaction between genetic, epigenetic and environmental factors [5], [6] (Fig. 1).

Figure 1. Causes of ASD

[5]

Until May 2013, the official diagnoses of the autism spectrum in the American Diagnostic and Statistical Manual of Mental Disorders (DSM) included: autistic disorder, pervasive developmental disorder not otherwise specified (PPD-NOS), syndrome Asperger's, childhood disintegrative disorder and Rett syndrome. Today, in the latest, fifth edition of the DSM, there is only one diagnosis - "autism spectrum disorder" with three levels of severity, but many therapists, clinicians, parents and organizations continue to use terms such as BDD-NOS and Asperger syndrome [2].

Causes of autism in children

The human brain consists of several structural sections, and each of them performs specific functions. Autistic people often experience changes in the structure of individual brain structures - the cerebellum, medial temporal lobe, hippocampus and frontal lobe cortex of the cerebral hemispheres. These departments are responsible for learning and remembering new information, expressing emotions, enjoying communication with others and social activity.

An interesting fact: in mammals, damage to these parts of the brain causes similar symptoms - the inability to recognize danger, quickly adapt to a new environment, and refusal to communicate with other animals.

Scientists cannot yet talk about the exact reasons that provoke changes in the listed brain structures - the nature of the disease and the mechanism of its development remain unknown.4

Causes of autism

Bugaisky Stanislav Evgenievich, pediatric neurologist and psychiatrist at the Be Healthy clinic:

“In most cases, children with autism are satisfactorily developed physically, have a pleasant appearance, in a word, by their external features it is not possible to accurately say about the presence of any disease. The exact causes of its formation are not fully known, but a number of factors have been identified that contribute to the development of autism:

• violations at the level of genes, molecules that store information about how the human body should develop;
• the results of the interaction of genetic factors and environmental factors in which the child develops;
• ecology;
• disruption of intrauterine development of the fetus, fetal hypoxia during pregnancy and during childbirth, infectious diseases during pregnancy (for example, rubella, cytomegalovirus), toxic effects on the fetus (for example, medications taken by the mother during pregnancy).”

Today, the most likely cause of ASD is considered to be a hereditary predisposition. In 3–7% of cases, relatives of children with autism are diagnosed with similar diseases and other mental and psychological disorders:

• low need for contact with other people;
• speech disorders;
• obsessive behavior;
• mental retardation;
• epilepsy.

In addition, in 90% of cases, autism develops simultaneously in both identical twins. This fact also indicates the hereditary nature of the disease.

Scientists have even been able to identify which genetic mutations cause a predisposition to autism. But don’t worry in advance: the presence of “breakdowns” in the genetic code does not mean that the child will necessarily have ASD, but only increases the risk of developing the disease.

Confirmation of a genetic predisposition to autism was an important discovery, which made it possible to relieve parents of responsibility for the development of such mental disorders in their children. After all, the cause of a child’s abnormal isolation was previously called a lack of parental attention, care and affection.

Risk factors

There are suggestions that the manifestation of autism is associated with certain risk factors, although these have not been confirmed by reliable sources. These include:

• the birth of a child from late pregnancy;
• intrauterine development disorders;
• unfavorable environmental conditions;
• radiation exposure;
• “failures” in metabolism;
• disturbances in the production of thyroid hormones;
• brain pathologies - encephalitis, traumatic brain injuries (Fig. 1).

Figure 1. Risk factors for autism. Source: Autism Connect

Vaccinations and autism: is there a connection?

In 1998, an article by physician Andrew Wakefield was published in The Lancet. In it, the author described several cases in which children developed intestinal lesions and symptoms of autism after vaccination with the rubella, measles and mumps vaccine (MMR vaccine). The author suggested that it was vaccination that became the “trigger” for the development of ASD. However, further research has not found a relationship between autism spectrum disorders and the MMR vaccine. But it was found that Dr. Wakefield received a large sum of money from his patients' lawyers, and also applied for a patent for his own vaccine. As a result, The Lancet decided to retract the publication, and Dr. Wakefield was stripped of his medical license.⁵

Causes of ASD

The exact cause of autism spectrum disorder (ASD) is currently unknown. It can arise as a result of genetic predisposition, environmental or unknown factors, that is, ASD is not etiologically homogeneous. There are likely many subtypes of ASD, each with a different origin.

Genetics

It is assumed that the development of ASD is largely due to the influence of genetic factors. Adding support for genetics as a cause is research showing that ASD is more common in boys than girls, most likely caused by genetic differences associated with the Y chromosome [14]. The theory is also supported by studies of twins with ASD, which determined concordance rates ( concordance is the presence of a certain trait in both twins) for monozygotic (60–90%) and dizygotic (0–10%) twins [15]. High concordance in pairs of monozygotic twins and significantly lower concordance in pairs of dizygotic twins indicate a significant role of genetic factors. In a 2011 study, nearly 20% of infants with an older biological sibling with ASD also had ASD, and if there were more than one older sibling, the likelihood of being diagnosed with ASD was even higher [16].

Researchers estimate that there are 65 genes that are considered strongly associated with autism, and 200 genes that are weaker associated with this diagnosis [17]. Genome-wide association studies (GWAS) confirm the contribution of common allelic variance to ASD, including single nucleotide polymorphism (SNP) and copy number variation (CNV) [18]. When examining the parents of patients, a large contribution of de novo CNV to ASD was found [19] ( de novo mutations, or variations , are mutations that no family member had and appeared for the first time in the patient). According to 2014 data, de novo and CNV gene mutations affect the occurrence of the disease in approximately 30% of cases [20]. A 2011 analysis of 1,000 families linked two chromosomal regions, 7q11.23 and 16p11.2, to autism [21], but in 2015 Sanders and colleagues, in a study of 10,220 individuals from 2,591 families, showed [17] that CNVs an additional four regions were equally likely to be true candidates for autism-associated variation. In September 2018, an article was published reporting that Japanese people with autism and schizophrenia have overlapping CNVs [22]. Recent studies of ASD cohorts report relatively high rates of de novo mutations in noncoding regions of the genome, as well as small exome mutations, that is, coding regions of the genome that include both known and previously undetected candidate genes associated with ASD (Figure 5 ) [23], [24].

Figure 5. Genetic disorders associated with ASD

peds.ufl.edu, picture adapted

Neurobiological factors

Genetic abnormalities can lead to abnormal mechanisms of brain development, which in turn leads to structural and functional, as well as cognitive and neurobiological disorders. Neurobiological differences associated with an ASD diagnosis include structural and functional brain pathologies, including:

• increased gray matter in the frontal and temporal lobes [25];
• decreased white matter compared to gray matter in adolescence [26];
• anatomical and functional differences in the cerebellum and limbic system [26].

Researchers in 2022 found that boys with ASD have smaller fractal dimension (a measure of the structural complexity of an object) in the right side of the cerebellum than healthy children [27].

Some studies have focused on the hypothesis that disrupted interactions between brain regions are the main cause of ASD [28], while other researchers are studying molecular causes, such as disruptions in the functioning of certain types of neurons (eg, mirror neurons) or disturbances in neurotransmission ( signal transmission between neurons) [29].

Other reasons

More and more researchers are writing about environmental causes that may contribute to autism. Research has identified a number of potentially hazardous substances that may be associated with the development of ASD: lead, polychlorinated biphenyls (PCBs), insecticides, automobile exhaust, hydrocarbons and flame retardants [25], but so far none of these substances has been proven to have a trigger. influence on the occurrence of ASD.

There is also increasing interest in the role of the immune system in the etiology of disease. June 2022 reported that 11.25% of children with ASD have food allergies, which is significantly higher than the 4.25% of children with allergies without a diagnosis, adding to the growing body of evidence pointing to immunological dysfunction as a possible factor risk for ASD [30].

There have also been recent studies that have linked deficiencies in the diet of pregnant mothers and the presence of elevated levels of pesticides in the blood with the diagnosis of ASD in their children [31–33].

Classification

Diseases with characteristics similar to autism are usually grouped under the term “autism spectrum disorder” (ASD).
Symptoms of diseases that are included in ASD vary in intensity and affect the lives of patients to varying degrees (Table 1). Table 1. Diseases that are classified as autism spectrum disorders

All ASDs are divided by severity - for this purpose, the degree of impairment of communication, behavior and social interaction is assessed.

Mild forms of autistic disorders include:

• high functioning autism;
• Asperger's syndrome;
• atypical autism without mental retardation.

These forms of pathology can be corrected - with properly selected therapy, children can easily study in regular schools and universities, master any profession and achieve self-realization in life.

Severe ASDs include:

• Kanner syndrome (“classic” autism);
• Rett syndrome;
• Heller's syndrome;
• atypical autism with mental retardation.

Severe forms of autism have a greater impact on the lives of patients. People with such pathologies are rarely accepted in society, so they need special rehabilitation programs and constant behavior correction.

Preventing autism during pregnancy

Bugaisky Stanislav Evgenievich, pediatric neurologist and psychiatrist at the Be Healthy clinic:

“It is possible to reduce the risk of having a child with autism in families that already have such a child. Today, one of the proposed measures that can be easily implemented and widespread is pregnancy support by a medical psychologist - in families at risk of having a child with autism. It is in his power to help create an optimizing atmosphere around the pregnant woman and protection from possible manifestations of hereditary inclination. But we should not forget that the proposed measures are not 100% able to prevent the birth of a child with autism.”

Medical history

The term “autism” has been used for over 100 years (since 1908). It was first coined by Eugen Bleuler, a Swiss psychiatrist, and was used to describe patients with schizophrenia who were particularly self-absorbed. The term autism, which Bleuler used, comes from the Greek word autós, which means “oneself.” It was intended to describe the “isolated self” that he saw in people with schizophrenia [8]. In fact, these diagnoses are different because a child with autism does not have hallucinations, illusions, they do not use speech to convey their irrational thoughts, because they often do not use speech at all. In addition, children with ASD have stable symptoms throughout their lives, and a diagnosis of schizophrenia usually involves periods of remission.

In 1943, a doctor named Leo Kanner conducted observations of groups of children who had previously been considered mentally retarded. He noted that the children had difficulties in social interaction, anxiety when deviating from their usual way of life, echolalia, a limited repertoire of spontaneous activity, but at the same time good intellectual potential, good memory, and hypersensitivity to sensory influences. Kanner coined the term “early childhood autism” (ECA) to describe a set of symptoms in the children he studied [8].

German scientist Hans Asperger described a “milder” form of autism in 1944, which until today was known as Asperger syndrome. He described cases of boys who were very intelligent but had problems with social interactions. He noted that the children had difficulties with eye contact, stereotyped words and movements, and resistance to change, but they did not have speech and language deficits. Unlike Kanner, Asperger also noted problems with coordination in these children, but at the same time more abilities for abstract thinking. Unfortunately, Asperger's research was not discovered until three decades later, when people began to question the diagnostic criteria used at the time. It was not until the 1980s that Asperger's work was translated into English, published and became known [8], [9].

In 1967, psychiatrist Bruno Bettelheim wrote that autism does not have an organic basis, but is the result of being raised by mothers who consciously or unconsciously did not want their children, which in turn led to reticence in their relationships with them. He argued that the main cause of the disease was negative parental attitudes towards infants during the critical early stages of their psychological development [10].

Bernard Rimland, a psychologist and father of a child with autism, disagreed with Bettelheim. He couldn't accept the idea that his son's autism was either his parenting or his wife's. In 1964, Bernard Rimland published Infantile Autism: A Syndrome and Its Implications for the Neural Theory of Behavior, which pointed the direction for further research at that time [8].

Autism became better known in the 1970s, but at that time many parents still confused autism with mental retardation and psychosis. Scientists have begun to clarify the etiology of the disease: a 1977 study of twins showed that autism is largely due to genetics and biological differences in brain development [10]. In 1980, the diagnosis of infantile autism was first included in the Diagnostic and Statistical Manual of Mental Disorders (DSM); the disease is also officially separated from childhood schizophrenia. In 1987, the DSM replaced "infantile autism" with the broader definition of "autistic disorder" and included it in the third revision. At the same time, psychologist and Ph.D. Ivar Lovaas published the first study showing how intensive behavioral therapy could help children with autism, giving parents new hope (Figure 3) [8], [9]. In 1994, Asperger's syndrome was added to the DSM, expanding autism spectrum diagnoses to include milder cases [10].

Figure 3. Scientists who have contributed to the study of autism spectrum disorders

sciencenews.org, findagrave.com, psycho.by, orthomolecular.org and uvmeste.ru

In 1998, a study was published showing that the measles, mumps, and rubella (MMR) vaccine causes autism. The results of this study were disproved, but it attracted enough attention to cause confusion to this day (Figure 4) [9]. Today, there is no scientific evidence confirming the connection between vaccination and ASD [11]. Sadly, as recently as August 2022, a report came out stating that more than 50% of people in some European countries still believe that vaccines cause autism [12].

Figure 4. Fragment of a picture about the connection between ASD and vaccines

[13], figure adapted

Finally, in 2013, the DSM-5 combined all subcategories of the condition into one diagnosis of autism spectrum disorder, and Asperger syndrome is no longer considered a separate condition [8–10].

Signs and symptoms of autism in children

The degree of manifestations of ASD varies from person to person. The disorder may manifest itself as subtle social oddities or a narrow range of interests, or it may cause severe mental impairment or a lack of any ability to connect with other people. Basically, the disease occurs without severe impairment of mental activity, and in almost 50% of children with autism, intellectual abilities are assessed as average or even above average.

Often, a diagnosis of autism not only does not affect mental abilities, but even helps such patients reveal their intellectual and creative potential. There are many successful autistic people in the world who have become famous scientists, composers, writers, and directors. There is evidence that Wolfgang Amadeus Mozart, Albert Einstein, and Charles Darwin had behavioral disorders that resembled symptoms of autism. Also, according to data from various sources, from 5 to 20% of programmers-employees of Microsoft Corporation are people with autism spectrum disorders.⁹

As a rule, the symptoms of autism in children form a typical triad:

• Violations of social interaction - narrowing of the range of interests and difficulties in perceiving new information.
• Anomalies in communication - difficulty communicating with people around you.
• Stereotypical patterns - persistent repetition of words and/or phrases, movements.

Children with ASD cannot bear the usual loads of any healthy person. They perceive everything around them much brighter and stronger, especially close contacts with other people. Despite this, at any age, autistic children do not try to “close themselves” in their inner world. They expect understanding from others, and their desire to communicate is often even stronger than that of ordinary children.

At the same time, patients with autism are not able to fully understand the emotional state of others, since they do not understand non-verbal signals - communication through facial expressions, gestures, and voice intonation. This prevents them from forming meaningful relationships with others, and the lack of social interaction is the most striking of all symptoms of autism in children (Figure 2).

Figure 2. Some signs of autism in children. Source: Sonulkaster / Depositphotos

Signs of autism in infants

In infants, behavioral problems are not as obvious.
But with careful observation of the child, parents may notice some symptoms of autism in the first year of his life. Most often, they begin to appear after six months of age and, at first glance, resemble some kind of developmental delay (Table 2). Table 2. Signs of autism spectrum disorder in children under 6 months of age

Signs of autism in children under 1 year of age are nonspecific. Based on them, one can only suspect a disease, but the same symptoms may indicate developmental delay and other pathologies of the nervous system.

In ASD, motor and speech skills are formed in a normal sequence, but with a slight delay. A child under one year old may be unsure of holding toys or not using a spoon, but as a result of special classes he quickly learns these skills and catches up with his peers.

Early signs of autism

Bugaisky Stanislav Evgenievich, pediatric neurologist and psychiatrist at the Be Healthy clinic:

“It is possible for parents to see the first manifestations of autism in a child up to one year of age.
During the first months of life, children with autism show less interest in bright toys, they are less mobile, and they have poor facial expressions. As they grow up (at the stage of 5-6 months), children with autism have practically no interest in the objects around them, they do not try to grab objects and manipulate them, against this background, muscle tone corresponds to physiological parameters.” The ability to hold toys and the desire to reach for them is an important marker of infant development. Photo: tetenio / freepik.com

Signs of autism in children aged 1–2 years

Signs of autism in 2-year-old children become more pronounced.
During this period, not only specialists, but also people around may notice some strange behavior (Table 3). Table 3. Signs of autism spectrum disorder in children aged 1.5 - 2 years

At two years of age, children with autism do not participate in play with their healthy peers. Most often, they ignore those around them - both strangers and relatives.

By the age of 2, a child can usually use a spoon and drink from a cup independently. Photo: lenamay / freepik.com

Signs of autism in children aged 3

Signs of autism in children aged 3 are usually very pronounced. The games of healthy children over three years old become quite complex - they involve imagination and distribute social roles. Autistic children aged 3 years and older perceive toys solely as physical objects and do not try to “bring them to life” through imagination. They can sit alone for hours and perform one task for a long time, for example, turning a car wheel or lining up blocks in a row.

Signs of autism in children aged 4

At four years old, children begin the “age of questions.” They actively explore the world around them and try to understand the essence of many phenomena. A child with ASD does not ask his parents questions about how the world works—their questions are devoid of practical meaning.

At the age of 4, children with autism become noticeably delayed in speech development. They often repeat the same phrases and words, talk about themselves in the third person, and react poorly to other people's speech. In severe forms of the disorder, speech may be completely absent.

The main sign of autism in a 4-year-old child is stereotypical behavior when he becomes fixated on carefully performing certain daily rituals. Moreover, if the sequence is even slightly disrupted, he may respond with a strong negative reaction - crying, aggression, resentment.

Children with autism often exhibit other signs:

• seizures;
• attention deficit disorder;
• unexpected reactions to ordinary stimuli - lighting, sound, touch;
• refusal to eat or dislike of certain foods;
• night awakenings, difficulty falling asleep.

It was previously believed that children with autism were unable to form emotional bonds with loved ones. It has now been established that this is not the case - if a child is left alone, he develops signs of anxiety, although he does not try to call mom or dad. Autistic people feel more confident and calm around their parents, although this may not be noticeable to others.

A child with autism is often a small eater and may eat the same thing every day, preferring strictly certain foods. Photo: Dudaeva / Depositphotos

The problem of autism in young children is one of the most difficult in pediatric practice. At present, in Russia, various diagnostic tests are practically not used that would make it possible to clarify the diagnosis before the child’s third birthday. However, every year cases of newly diagnosed disease are registered in preschool children. All parents should know about this disease in order to recognize the disease in time.

Characteristics The first case of autism in children was described in 1943. This discovery was made by G. Asperger. Subsequently, even one of the syndromes in which symptoms of the disease develop was named after him - Asperger's syndrome. The definition of the disease was given much later, after the accumulation of statistical data on the sick.

Autism is a mental illness in which pronounced disturbances occur in the cerebral cortex, leading to a complete disruption of social adaptation and a special perception of one’s own inner world.

The disease can occur at any age, including newborns. Children diagnosed with autism require more careful attention and a special approach.

Causes Today, most scientists believe that the cause of the disease is disturbances in the genetic apparatus or congenital genetic inheritance. Very often, the first signs of the disease can be seen in infants or children in the first year of life. However, these manifestations are often attributed to a peculiarity of the child’s character or temperament.

Autism is much more common in boys. The ratio is 4:1. Girls get sick less often. Often babies have a high predisposition to the disease if their close relatives or parents have this disease.

The disease is inherited in an autosomal recessive manner. This means that even if both parents have autism, their risk of having a healthy child is 25%.

Not only hereditary predisposition can lead to the appearance of the disease. There are scientific studies that have shown a connection between the effects of certain provoking factors on the development of the disease. As a rule, this action occurs during the intrauterine growth of the baby.

Such provoking factors include:

Infection of a pregnant woman with various bacterial or viral infections. Such infection of the fetus is especially dangerous during the first 8 weeks of intrauterine development.

Exposure of the unborn child to various toxic chemicals. This usually happens if the mother works in hazardous industries or industrial enterprises during pregnancy.

Strong ionizing radiation. It is found in various industries where work is carried out with ultrasound or infrared rays. All types of radioactive radiation can also affect the structure of the nervous system and cause symptoms of autism.

Classification Early childhood autism can occur in various ways. Typically, doctors use various classifications that allow them to divide forms of the disease according to similar characteristics.

The disease can be mild, moderate or severe. This classification is based on the severity of adverse symptoms.

With a mild degree of severity, there is no impairment of the baby’s intellectual abilities. Such children practically do not lag behind their peers in the level of mental development. By carefully observing the child, you can detect some features. As a rule, this form of the disease is diagnosed at 3 years of age. With autism of moderate severity, more persistent impairments in motor functions appear, and speech impairments are also added. Children at 2 years old practically do not speak. Some babies can only pronounce individual words or phrases, but the speech patterns are meaningless and are only a simple set of syllables. Severe cases are characterized by pronounced disturbances in brain activity. Children practically do not react to others and do not answer questions addressed to them. Babies aged 1.5 years correspond in development to a 6-7 month old child. This form of the disease is characterized by an unfavorable course and a relatively poor prognosis for treatment.

Signs of autism The main manifestations of the disease include the following symptoms:

Impoverishment of emotions. Children who do not have mental development disorders experience positive emotions with any smile or stroking and react in response. Children with autism are virtually unresponsive. Physical or bodily contact does not elicit any response from them. The child remains indifferent or tries to turn away.

Concentrated gaze. Usually, babies in the first year of life begin to fixate their gaze on one object. Most often in children with autism you can observe a “absent” look. They never look their interlocutor in the eyes, but they can spend hours looking at some part of a toy or a drawing on the wall. It often seems that the baby is simply immersed in himself.

Slow potty training. This usually becomes a very difficult task for children with autism. Often, only at the age of 3-4 years does a child completely wean himself off diapers and get used to going to the potty.

Speech disorders. As a rule, autistic children begin to speak quite late. Even after uttering the first words, they may remain silent for a long time. After a few months, they begin to speak again, but only pronounce a few isolated syllables or similar words.

Multiple repetitions of words. Children with autism repeat several words very often. To the question “will you eat?” they can repeat “eat, eat, eat” several dozen times. This will only stop when one of the parents says “eat” after the child’s monologue. After this he usually becomes silent.

Same type of movements. Austistic children really like to repeat an action many times. They usually turn the lights on and off or turn on the water tap. The child does not adequately perceive any attempts to make a remark that doing this is bad or wrong and begins to repeat it again and again.

Change in gait. Quite often, a small autistic child begins to walk on tiptoes or swings his arms wildly when walking, as if imitating a bird or a butterfly. Some babies may bounce when walking.

Psychological characteristics. Typically, a child with autism becomes more withdrawn. Such children often experience severe difficulties in trying to make new friends. Children usually do not play with other children in the sandbox or leave the playground, avoiding new acquaintances.

Favorite foods. Typically, a child with autism has a strong tendency and love only for certain foods. Introducing new foods into his diet becomes an extremely difficult task for any mother. The baby categorically refuses everything new, demanding dishes that are familiar to him. Children aged 2-3 years eat only from dishes that are familiar to them. New cutlery can cause a real panic attack in your baby.

Strict organization. Autistic children always try to organize their toys or objects. They arrange their dolls or animals by color, size, or according to some criteria that only they understand. Any violation of this order can cause severe apathy in the baby or, on the contrary, lead to aggressive behavior.

Possibility of self-injury. In children with autism, the boundaries of perception of the external and internal world are violated. Quite often, they are overly sensitive to any attempts to invade their personal world. In this case, they show aggression not towards another person, but towards themselves. Babies may bite themselves on purpose and even try to fall out of their crib or playpen. It should be noted that such symptoms occur mainly in fairly severe forms of the disease.

Diagnostics Determining autism is a very difficult task not only for parents, but even for an experienced doctor. Testing at home does not always provide an accurate verdict on whether a child has a disease. This study is only of an auxiliary nature. If parents notice that their child has certain behavioral characteristics, they should definitely show him to a doctor.

In order to successfully diagnose the disease, several tests are required.

Typically, the diagnosis of autism is made collectively. For this purpose, a commission is created of several specialists who have sufficient knowledge of working with such children. It includes: a psychotherapist, a medical psychologist, a speech therapist and a rehabilitation specialist.

Basic approaches to correction To date, no specific treatment for the disease has been developed. The genetic predisposition of the disease makes it impossible to create one unique pill that would lead to a complete recovery.

Treatment for autism is complex. Prescription of medications is used only to eliminate adverse manifestations of the disease that are not amenable to psychological influence through the use of other treatment methods. Usually all medications are prescribed by a psychiatrist. Such medications are quite serious and are prescribed only for a certain short period of time to relieve acute negative symptoms.

Child psychologists must work with children diagnosed with autism. The purpose of these classes is to improve the child’s social adaptation using various psychological techniques.

The psychologist in a playful way simulates various life situations that can cause psychological trauma to the child or worsen his condition. During such games, the baby learns to react correctly to any difficulties and more easily builds interpersonal contacts with other people.

A visit to a speech therapist is also one of the important stages of treatment. In order to restore a child’s speech, regular sessions with a specialist are required. During such training, children noticeably expand their vocabulary and pronounce the same type of sentences less often. Also, such activities significantly improve the process of social adaptation of the child. Kids are less afraid to talk to people they don’t know and make contact faster.

To ensure that a little autistic person practically does not feel his illness, various methods of restorative and recreational activities are used. Hippotherapy or dolphin therapy is recommended for autistic children. Kids love to spend time with animals. Such activities have a beneficial effect on the child’s nervous system and have a positive effect on the entire process of treatment and rehabilitation as a whole.

Identifying a disease at an early age is a very difficult task, but necessary. The sooner a diagnosis is made and the sooner rehabilitation measures are started, the greater the chance for a child with autism to better adapt to environmental conditions.

Such children require a more attentive and thorough approach. Only a competent attitude on the part of those around them and those closest to them allows children to better adapt to life and achieve success.

Complications of autism

People with ASD often have difficulty choosing a profession and finding employment. The inability to adequately express emotions leads to them laughing, crying or screaming for any reason or even for no specific reason. This becomes a serious barrier to communication with members of any team. In addition, even minor impairments in intellectual activity in such children can become a reason for ridicule in the company of peers.

Children with ASD may show aggression not only towards other people, but also towards themselves. They cause serious harm to themselves, so they should always be under adult supervision.

Autism spectrum disorders are often accompanied by other disorders:

• epilepsy;
• anxiety states;
• depression;
• attention deficit hyperactivity;
• sleep disorders.

One of the most serious complications of pathology is social maladjustment and disability. Adult patients can live without assistance only with mild forms of autism. Often, due to the severe consequences of the disease, people with ASD end up in a psychoneurological boarding school.

Autism and digestive problems

Unusual tastes in food and selectivity when choosing foods in autistic people often provoke the development of diseases of the gastrointestinal tract, hypovitaminosis, anemia, constipation or, conversely, diarrhea, when undigested pieces of food can be seen in the stool. Refusal to eat and poor diet negatively affect intestinal motility and deprive the child of essential nutrients, aggravating the condition.

Treatment

Treatments used in the 1960s and 1970s consisted of LSD, electric shocks, and severe control of the patient's behavior, which often included pain and punishment. It was not until the 1980s and 1990s that doctors began to introduce more modern treatments for children with autism, such as behavioral therapy with an emphasis on positive reinforcement and supervised learning [9].

Today, treatment may include both psychotherapy and medication. Many people with autism have additional symptoms, such as sleep disturbances, seizures, and gastrointestinal problems. Treatment of these symptoms may improve patients' attention, learning, and related behavior. Some medications used for other conditions help with certain symptoms: antipsychotics (risperidone and aripiprazole), antidepressants, stimulants, anticonvulsants [37]. Currently, risperidone and aripiprazole are the only medications approved by the FDA for symptoms associated with autism spectrum disorder, given the irritability often seen with this diagnosis. Children and adolescents with autism spectrum disorder appear to be more susceptible to side effects when using medications, so the use of low doses is recommended [38].

Among non-drug treatments, applied behavior analysis, cognitive behavioral therapy, social skills training, sensory integration therapy, occupational therapy, and speech therapy are currently used [35].

Children with autism spectrum disorders may also have strengths. Their unique views on the world give other people the opportunity to see the world from a different perspective, and children with ASD can grow into talented and successful people who will make wonderful discoveries to improve our world. New research in the field of diagnosis and treatment of “rain children” gives these unusual children hope for more successful social adaptation and even recovery.

When should you suspect autism?

Speech impairments and a high pain threshold in children with autism create serious problems in timely diagnosis. Autistic people are often unable to complain of pain or describe the symptoms of the disease, so they see a doctor in the late stages of pathologies with serious complications that can even be life-threatening.

To prevent such a situation, it is important for parents to carefully monitor the development of the child from the moment of his birth. You should consult a doctor to rule out autism spectrum disorder if your child:

• avoids eye to eye contact;
• does not respond to his own name;
• does not know how to play with toys;
• does not respond to instructions from adults;
• does not smile;
• does not communicate his desires;
• shows indifference or aggression.

There are other signs that should alert parents and become a reason to consult a neurologist (Fig. 3).

Figure 3. What parents should be wary of in their child’s behavior. Source: MedPortal

Diagnostics

A child with developmental delays should be examined by a doctor to find the cause of the developmental delay. If a child exhibits any symptoms of autism spectrum disorder, he will most likely be referred to specialists for consultation, for example, a child psychiatrist, child psychologist, or pediatric neurologist.

Proper diagnosis requires consideration of the patient's complete history, physical examination, neurological examination, and direct assessment of the child's social, language, and cognitive development. Sufficient time should be provided for standardized interviews of parents regarding current problems and behavior history, as well as structured observation of social and communicative behavior and play.

A new blood test could detect about 17% of children with ASD, according to a new 2022 study. Scientists have identified a group of blood metabolites that could help detect some children with autism spectrum disorder. As part of the Childhood Autism Metabolome Project (CAMP), the largest metabolomics study of ASD, these results are a key step towards the development of a biomarker test for ASD [34].

In August 2022, researchers reported differences in bacterial gene expression in the oral region that may distinguish children with ASD from their healthy peers. The study suggests that GI microbiome abnormalities previously identified in children with ASD may extend to the mouth and throat [35].

Researchers from the University of Missouri School of Medicine and the Center for Autism and Neurological Disorders. M.W. Thompson in June 2018 identified a link between neurotransmitter imbalances and patterns of connections between brain regions that play a role in social communication and language. The study described two tests that could lead to more precise treatment [36].

Diagnosis of autism in children

A neurologist may suspect autism based on characteristic symptoms. To confirm the diagnosis and assess the severity of the pathology, various neuropsychological techniques are used:

• Autism Diagnostic Observation Schedule (ADOS) - used in children of any age and with different levels of development. This scale consists of four blocks that allow you to assess a child’s ability to play complex games, his communication skills and speech development.
• Childhood Autism Rating Scale (CARS) - suitable for diagnosing characteristic disorders in children from 2 to 4 years old. The scale evaluates various types of perception (tactile, olfactory, gustatory, visual), dexterity of movements, ability to imitate, emotional reactions, cognitive activity.
• The Modified Checklist for Autism in Toddlers (M-CHAT) is a test for parents. It contains 20 questions that relate to the child’s behavior in various situations.
• Autism Spectrum Screening Questionnaire (ASSQ) is a test for diagnosing various types of autism spectrum disorders in children from 6 to 16 years old.8

To exclude other pathologies, children must undergo instrumental studies of the brain - tomography (CT, MRI), electroencephalography (EEG).8

Important! In children under one year of age, the reliability of the diagnosis of autism does not exceed 50%. This means that in the future it is confirmed only in every second baby. The likelihood of correctly identifying ASD increases with age, and children with autism spectrum disorder are most often correctly diagnosed between the ages of 2 and 3 years.⁶

How to diagnose autism in a child

An accurate diagnosis can only be made clinically. To do this, you need to observe the child and note possible symptoms and signs. In addition, there are currently a sufficient number of tests that can help make a diagnosis.

When performing tasks to determine the level of development, very often children use nonverbal communication. And they cope with tests in which you need to show something and not say it with a bang. That is why you should choose several diagnostic methods.

If parents notice symptoms of autism, they should immediately contact a psychiatrist, otherwise the diagnosis may be delayed, which will significantly reduce the child’s chances of successful treatment.

Treatment of autism in children

It is impossible to completely get rid of pathology with the help of medications or psychotherapy - mental disorders will accompany a person with autism throughout his life. But with the help of various techniques, it is possible to improve the patient’s condition, teach him self-care skills, and help form and maintain social contacts.

Classes for children with autism are conducted jointly by psychologists, speech pathologists and speech therapists. Only systemic and constant therapy with the involvement of relatives can achieve noticeable positive results.

One of the modern methods is ABA therapy (Applied behavior analysis). It includes various techniques that are aimed at correcting children’s behavior in a social environment and teaching them self-care skills. ABA therapy is based on a reward system, when for every correct action the child receives positive reinforcement - a reward. First, children learn simple actions, and then slowly and gradually combine them into more complex tasks.

It is advisable to start ABA therapy from the age of 3 years. At least 30–40 hours of classes are conducted per week. At the same time, at home, parents must systematically repeat and consolidate the skills acquired during lessons.

Another effective technique is the PECS (Picture Exchange Communication System) system. For these activities, special cards are used depicting various actions and objects. With the help of these cards, children are taught how to approach adult family members with certain requests. Although this technique is not aimed at developing oral language, it does improve speech function in some children.8

PECS technique. Source: StopAutism website

In Russia and the CIS countries, psychologists widely use the emotional-level approach when working with autistic children. It is based on the creation of a trusting emotional contact between a specialist and his patient. And only then does work begin on overcoming aggression, anxiety and fears, and learning purposeful activities.

Drug treatment for autism is rare and is generally indicated only in cases where psychological methods are ineffective. The drugs can reduce the severity of some psychological problems:

• aggressive behavior;
• increased anxiety;
• causeless tantrums;
• hyperactivity syndrome;
• sleep disorders.

Drug treatment improves the child’s behavior when visiting public places and facilitates his participation in family life. But it is important to strictly follow the doctor’s recommendations—the medications should be taken in the shortest possible course. Immediately after achieving the desired effect, the dosage of the drugs is gradually reduced until complete withdrawal. In this case, you cannot self-medicate - this can only harm the child and provoke the progression of the disease.

Education for children with autism

Enrolling a child with autism in kindergarten and school can be a challenge.
In Russia, many such children switch to home-based education, which excludes communication with peers and can negatively affect progress in treatment, as it deprives children of communication practice. Parents should know that, by law, children with ASD have the right to study in any school of their choice (including general education), since they belong to the category of children with disabilities. At the same time, the state must provide them with special conditions that will depend on the degree and severity of their disorder. These may include classes with experienced teachers (speech therapists, psychologists, etc.), an adapted school curriculum, or access to sensory relief equipment, if necessary. One of the most preferred teaching models for children with autism is the resource classroom approach. It involves the gradual introduction of the child into an environment where he can learn together with ordinary children. So far there are not many such classes, and they are often created thanks to the considerable efforts of parents, but progress in the education system for special children can already be seen.

Reasons for the development of the disease

In most cases, autism is not associated with brain damage. And no one can name the exact reasons for the development of the disease. The most common of them are:

• Heredity. If one of your relatives has already been diagnosed with autism, then the risk of its reoccurrence in the child increases significantly.
• Viral infections suffered by the mother during pregnancy can trigger the development of the disease.
• Obesity in a pregnant woman can have an adverse effect.
• Aborted fetus.

The number of children with autism has increased significantly recently. What exactly caused this is still unknown. Perhaps this impetus was given by the deterioration of environmental conditions and ecology. By the way, a more detailed study of the disease shows that autism is most often observed in boys.

Prognosis and prevention of autism

Autism is an incurable disease. But timely behavior correction can achieve a significant improvement in the condition. It is believed that speech development before the age of six and a sufficiently high IQ in patients are signs of a favorable prognosis. The course of the disease can be improved through constant exercise, rehabilitation, and the creation of a calm environment within the family.

It is impossible to prevent the development of the disease in your child. But following the rules of a healthy lifestyle and careful monitoring of the course of pregnancy reduce the risk of pathology. To prevent deterioration in their health, it is important for patients with autism to constantly undergo therapy and be observed by doctors of various specialties, and for their parents to create a favorable atmosphere at home and constantly learn to communicate with their children.

Special giftedness of autistic people

Bugaisky Stanislav Evgenievich, pediatric neurologist and psychiatrist at the Be Healthy clinic:

“There is such a thing as “savantism” (from the French word “savant”, which translates as “scholar”) - a condition when an autistic child or adult is very gifted in a particular area. In savants, experts identify amazing mental knowledge or abilities in a certain field of activity. At the same time, in terms of the level of intellectual development, patients stop at the stage of mild mental retardation. Most often, the anomaly occurs due to genetic disorders and can be inherited. The syndrome can also occur due to previous traumatic brain injuries or brain diseases. Many scientists believe that savantism is a consequence of perinatal pathology. All the causes of the anomaly are not fully known, but experts estimate that the disease is five times more likely to affect men than women. This is explained by the fact that the male chromosome contains dozens of genes that contribute to the birth of a child with this disease. Some scientists suggest that the anomaly develops due to a special virus that causes neurons to mutate. The results of MRI and CT scans of the brain prove that in people with savant syndrome, the right hemisphere (“responsible” for creativity, spatial and imaginative thinking) is much better developed than the left hemisphere (“responsible” for analytical thinking, verbal information). This is why autistic people exhibit special abilities.”

Clinical manifestations

How does autism most often manifest itself at 3 years of age? Such children prefer to be completely alone. They do not need to communicate with adults or peers. They also show no interest in people.

Other prominent symptoms of this age include:

1. lack of plot in games

2. replacing toys with any other item - remote control, pan, lid, plastic jar

3. pronounced egocentrism, when the child does not notice other people and does not perceive them as living beings

4. reluctance to give your name

5. talking about yourself only in the third person

6. regular hysterics at any attempts to change the situation or environment

7. presence of rituals, stereotypical movements

8. difficulties with coordination of movements when going down the stairs.

It is important to remember that a diagnosis is made only when the child has all of the listed symptoms at once. If one or two are present, you should not think that the baby suffers from autism.

Sources

1. Autism. Wikipedia
2. General disorders of psychological development. ICD-10.
3. Autism spectrum disorders in childhood: diagnosis, therapy, prevention, rehabilitation. Public organization "Russian Society of Psychiatrists". 2022.
4. Early diagnosis of autism spectrum disorders in the practice of a child psychoneurologist. Clinical recommendations of the State Budgetary Healthcare Institution “Scientific and Practical. "Center for Pediatric Psychoneurology" of the Moscow Department of Health. 2014.
5. The world before and after the invention of vaccines. Biomolecule
6. I.V. Makarov, A.S. Avtenyuk. Diagnosis of childhood autism: errors and difficulties. Social and clinical psychiatry. 2022, vol. 28. No. 3
7. Machurina Tatyana Nikolaevna (2016). Childhood autism: diagnosis, therapy, rehabilitation. International scientific review, (20 (30)), 105-108.
8. Myasagutova Alina Failovna, Valiullina Gulnara Vladimirovna, & Mukhametzyanova F. G. (2019). Development of speech communication in preschool children with autism spectrum disorders using Pecs. Kazan Bulletin of Young Scientists, 3 (4 (12)), 25-37.