Autism in children

Autism in children (synonyms: autistic disorder, infantile autism, infantile psychosis, Kanner syndrome) is a general developmental disorder that manifests itself before the age of three years as abnormal functioning in all types of social interaction, communication, and limited, repetitive behavior.

Symptoms of autism appear in the first years of life. The cause is unknown in most children, although signs suggest a genetic component; in some children, autism may be caused by an organic disorder. Diagnosis is based on the child's developmental history and observation of the child's development. Treatment consists of behavioral therapy and sometimes medication.

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Epidemiology

Autism, a developmental disorder, is the most common of the pervasive developmental disorders, with an incidence of 4-5 cases per 10,000 children. Autism is approximately 2-4 times more common in boys, in whom it is more severe and usually has a family history.

Given the wide clinical variability of these conditions, many also refer to ODD as autism spectrum disorders. The past decade has seen a rapid increase in the recognition of autism spectrum disorders, partly because diagnostic criteria have changed.

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Causes of autism in a child

Most cases of autism spectrum disorders are not associated with diseases that involve brain damage. However, some cases occur against the background of congenital rubella, cytomegalovirus infection, phenylketonuria, and fragile X syndrome.

Strong evidence has been found to support the role of a genetic component in the development of autism. Parents of a child with ASD have a 50-100 times higher risk of having a subsequent child with ASD. Concordance of autism is high in monozygotic twins. Studies involving families of patients with autism have suggested several gene regions as potential targets, including those associated with the coding of neurotransmitter receptors (GABA) and structural control of the central nervous system (HOX genes). A role for external factors (including vaccination and various diets) has also been suggested, although this has not been proven. Abnormalities in the structure and function of the brain are likely to be largely the basis for the pathogenesis of autism. Some children with autism have enlarged cerebral ventricles, others have hypoplasia of the cerebellar vermis, and some have abnormalities of the brainstem nuclei.

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Pathogenesis

Autism was first described by Leo Kanner in 1943 in a group of children who were characterized by a sense of loneliness that was not associated with withdrawal into a fantasy world, but rather was characterized by a disruption in the development of social consciousness. Kanner also described other pathological manifestations, such as delayed speech development, limited interests, and stereotypes. Currently, autism is considered a disorder with a disruption in the development of the central nervous system, which manifests itself in early childhood, usually before the age of 3. Currently, autism is clearly differentiated from the rare childhood schizophrenia, but the key defect underlying autism has not yet been identified. Various hypotheses based on the theory of intellectual, symbolic, or cognitive executive function deficits have received only partial confirmation over time.

In 1961, patients with autism were found to have elevated blood levels of serotonin (5-hydroxytryptamine). It was later found that this was due to elevated serotonin levels in platelets. Recent studies have shown that treatment with selective serotonin reuptake inhibitors reduces stereotypies and aggression in some patients, while a decrease in brain serotonin levels increases stereotypies. Thus, disruption of serotonin metabolism regulation may explain some manifestations of autism.

Autism is considered a spectrum of disorders, with the most severe cases exhibiting classic signs such as delayed speech development, communication deficits, and stereotypies that develop early in life. In 75% of cases, autism is accompanied by mental retardation. The opposite end of the spectrum includes Asperger syndrome, high-functioning autism, and atypical autism.

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Symptoms of autism in a child

Autism usually manifests in the first year of life and is always evident before age 3. The disorder is characterized by atypical interactions with others (i.e., lack of attachment, inability to make close contact with people, lack of responsiveness to others' emotions, avoidance of eye contact), persistence in routines (e.g., persistent aversion to change, rituals, persistent attachment to familiar objects, repetitive movements), speech impairments (ranging from complete muteness to late speech development to marked peculiarities in language use), and uneven intellectual development. Some children self-harm. Loss of acquired skills is detected in about 25% of patients.

According to the currently accepted theory, the fundamental problem of autism disorders is considered to be “mental blindness,” i.e. the inability to imagine what another person might be thinking. It is believed that this leads to disruption of interaction with others, which in turn leads to anomalies in speech development. One of the earliest and most sensitive markers of autism is the inability of a one-year-old child to point at objects when communicating. It is assumed that the child cannot imagine that another person can understand what he is pointing at; instead, the child points to what he needs only by physically touching the desired object or using the adult's hand as a tool.

Non-focal neurological features of autism include gait incoordination and stereotyped movements. Seizures occur in 20-40% of affected children [especially those with an IQ of less than 50]

Clinically, qualitative disturbances in social interaction are always noted, manifested in three main forms.

• Refusal to use existing speech skills in social communication. In this case, speech develops with a delay or does not appear at all. Non-verbal communication (eye contact, facial expression, gestures, body posture) is practically inaccessible. In approximately 1/3 of cases, speech underdevelopment is overcome by 6-8 years of age; in most cases, speech, especially expressive speech, remains underdeveloped.
• Disruption of the development of selective social attachments or reciprocal social interaction. Children are unable to establish warm emotional relationships with people. They behave the same way with them and with inanimate objects. They do not show any particular reaction to their parents, although peculiar forms of symbiotic attachment of the child to the mother are possible. They do not strive to communicate with other children. There is no spontaneous search for shared joy, common interests (for example, the child does not show other people objects of interest to him or her and does not draw attention to them). Children lack socio-emotional reciprocity, which is manifested by a disrupted reaction to the emotions of other people or a lack of modulation of behavior in accordance with the social situation.
• Disturbances in role-playing and social-imitation games that are stereotypical, dysfunctional and non-social. Attachment to unusual, often hard objects is observed, with which atypical stereotypical manipulation is carried out; games with unstructured material (sand, water) are typical. Interest in individual properties of objects (for example, smell, tactile qualities of the surface, etc.) is noted.
• Limited, repetitive and stereotypical behavior, interests, activity with an obsessive desire for monotony. A change in the usual life stereotype, the appearance of new people in these children causes reactions of avoidance or anxiety, fear, accompanied by crying, screaming, aggression and self-aggression. Children resist everything new - new clothes, eating new foods, changing their usual walking routes, etc.
• In addition to these specific diagnostic signs, one can observe such non-specific psychopathological phenomena as phobias, sleep and eating disorders, excitability, and aggressiveness.

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F84.1 Atypical autism.

Synonyms: moderate mental retardation with autistic features, atypical childhood psychosis.

A type of pervasive mental disorder of psychological development that differs from childhood autism either by age of onset or by the absence of at least one of three diagnostic criteria (qualitative abnormalities in social interaction, communication, restricted repetitive behavior).

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Forms

Asperger syndrome is characterized by social isolation combined with unusual, eccentric behavior, referred to as "autistic psychopathy." It is characterized by an inability to understand the emotional state of others and to interact with peers. It is assumed that these children develop a personality disorder compensated by special achievements in one limited area, usually associated with intellectual pursuits. More than 35% of people with Asperger syndrome have concomitant mental disorders - including affective disorders, obsessive-compulsive disorder, schizophrenia.

High-functioning autism cannot be clearly differentiated from Asperger syndrome. However, Asperger syndrome, unlike high-functioning autism, has a neuropsychological profile with “strong” and “weak” cognitive functions and difficulties in nonverbal learning. Projective tests show that individuals with Asperger syndrome have a richer inner life, more complex, sophisticated fantasies, and are more focused on internal experiences than those with high-functioning autism. A recent study of pedantic speech in both groups of patients showed that it is more common in Asperger syndrome, which may help differentiate these conditions.

"Atypical autism" is a condition that does not meet the age of onset criterion and/or the other three diagnostic criteria for autism. The term "pervasive developmental disorder" is widely used in official nomenclature, but its meaning is not precisely defined. It should be considered an umbrella term for all conditions discussed in this section. Pervasive developmental disorder not otherwise specified (PDNOS) is a descriptive term used for children with atypical autism.

Rett syndrome. Rett syndrome and childhood disintegrative disorder are phenomenologically close to autism, but pathogenetically, probably, differ from it. Rett syndrome was first described by Andreas Rett (A. Rett) in 1966 as a neurological disorder, mainly affecting girls. In this genetically determined disease, the child develops normally up to 6-18 months, but subsequently there is severe mental retardation, microcephaly, inability to make purposeful movements of the hands, replaced by stereotypes such as rubbing the hands, trembling of the trunk and limbs, unsteady slow gait, hyperventilation, apnea, aerophagia, epileptic seizures (in 80% of cases), grinding of teeth, difficulty chewing, decreased activity. Unlike autism, Rett syndrome usually shows normal social development in the first months of life, the child interacts adequately with others, clings to parents. Neuroimaging reveals diffuse cortical atrophy and/or underdevelopment of the caudate nucleus with a decrease in its volume.

Childhood disintegrative disorder (CDD), or Heller syndrome, is a rare disorder with a poor prognosis. In 1908, Heller described a group of children with acquired dementia ("dementia infantilis"). These children had normal intellectual development until age 3-4, but then developed behavioral changes, speech loss, and mental retardation. Current criteria for this disorder require outwardly normal development until age 2, followed by significant loss of previously acquired skills such as speech, social skills, bladder and bowel control, play, and motor skills. In addition, at least two of the three manifestations characteristic of autism must be present: speech impairment, loss of social skills, and stereotypy. In general, childhood disintegrative disorder is a diagnosis of exclusion.

Diagnostics of autism in a child

Diagnosis is made clinically, usually based on evidence of impaired social interaction and communication, and restricted, repetitive, stereotyped behaviors or interests. Screening tests include the Social Communication Inventory, M-SNAT, and others. Diagnostic tests considered the "gold standard" for diagnosing autism, such as the Autism Diagnostic Observation Schedule (ADOS), which is based on DSM-IV criteria, are usually administered by psychologists. Children with autism are difficult to test; they typically perform better on nonverbal than on verbal IQ tasks, and they may perform age-appropriately on some nonverbal tests despite delays in most areas. However, an IQ test administered by an experienced psychologist can often provide useful data for judging the prognosis.

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Diagnostic criteria for autism

A. In total, at least six symptoms from sections 1, 2 and 3, with at least two symptoms from section 1 and at least one symptom from sections 2 and 3.

1. A qualitative impairment of social interaction, manifested by at least two of the following symptoms:
   • a pronounced impairment in the use of various types of non-verbal means (meeting eyes, facial expressions, gestures, postures) to regulate social interaction;
   • inability to establish relationships with peers that are appropriate to the level of development;
   • lack of spontaneous desire for common activities, interests, and achievements with other people (for example, does not roll, point out, or bring objects of interest to other people);
   • lack of social and emotional connections.
2. Qualitative communication disorders, expressed by at least one symptom from the following:
   • slow or complete absence of development of spoken language (not accompanied by attempts to compensate for the defect by alternative means of communication, for example, gestures and facial expressions);
   • in individuals with adequate speech - a marked impairment of the ability to initiate and maintain a conversation with others;
   • stereotypical and repetitive use of language or idiosyncratic language;
   • lack of a variety of spontaneous games of faith or social role-playing games appropriate to the developmental level.
3. A restricted repertoire of repetitive and stereotyped behaviors and interests, as evidenced by at least one of the following symptoms:
   • predominant preoccupation with one or more stereotypical and limited interests that are pathological due to their intensity or direction;
   • repetition of the same meaningless actions or rituals - regardless of the situation;
   • stereotypical repetitive mannered movements (for example, waving or rotating arms, complex movements of the entire body);
   • persistent interest in certain parts of objects.

B. Developmental delay or impairment of vital functions in one of the following areas, manifested before the age of 3 years:

1. social interaction,
2. speech as a tool of social interaction,
3. symbolic or role-playing games.

B. The condition cannot be better explained by Rett syndrome or childhood de-integrative disorder.

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Autism diagnostic criteria and diagnostic scales

Several standardized scales are used to assess and diagnose autism. Current research protocols are based primarily on the use of the revised version of the Autism Diagnostic Interview-Revised (ADI-R). However, this method is too cumbersome for everyday clinical practice. In this regard, the Childhood Autism Rating Scale (CARS) is more convenient. Scales used to assess behavioral disorders in mentally retarded children are also suitable for autism. It is preferable to use the Aberrant Behavior Checklist-Community Version (ABC-CV) and the Connors scales to assess hyperactivity and attention deficit.

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Treatment of autism in a child

Treatment is usually provided by a team of specialists, and recent research suggests some benefit from intensive behavioural therapy that encourages interaction and expressive communication. Psychologists and educators typically focus on behavioural analysis and then tailor behavioural treatment strategies to specific behavioural problems at home and school. Speech therapy should begin early and use a range of activities such as singing, picture sharing and talking. Physical and occupational therapists plan and implement strategies to help children compensate for specific motor deficits and motor planning. Selective serotonin reuptake inhibitors (SSRIs) may improve control of ritualistic and repetitive behaviour. Antipsychotics and mood stabilizers such as valproate may help control self-injurious behaviour.

Treatment of autism, like treatment of mental retardation, requires a set of interventions aimed at correcting various aspects of the patient's life: social, educational, psychiatric and behavioral. Some specialists consider behavioral therapy to be the main component of autism treatment. To date, more than 250 studies have been conducted evaluating the effectiveness of various behavioral therapy methods. The "targets" that behavioral therapy should be aimed at can be divided into several categories - inappropriate behavior, social skills, speech, everyday skills, academic skills. Special methods are used to solve each of these problems. For example, inappropriate behavior can be subjected to functional analysis to identify predisposing external factors that should be targeted by psychotherapeutic intervention. Behavioral methods can be based on positive or negative reinforcement with a suppression effect. Other therapeutic approaches, such as functional communication and occupational therapy, can reduce symptoms and improve the quality of life of children with autism. However, symptoms that are not directly related to external factors or are relatively independent of external conditions are often observed. Such symptoms may respond better to pharmacotherapeutic intervention. The use of psychotropic drugs in autism requires a careful assessment of the clinical status and clear interaction with other treatment methods within the framework of a comprehensive multimodal approach.

When deciding on the use of psychotropic drugs, one should take into account the many psychological and family problems associated with the presence of an autistic person in the family. When administering medication, it is necessary to promptly respond to such possible psychological problems as latent aggression directed against the child and unresolved guilt in the parent, unrealistic expectations in connection with the start of drug therapy and the desire for a magical cure. In addition, it is important to keep in mind that only a few drugs prescribed to children with autism have undergone controlled trials. When prescribing psychotropic drugs to autistic patients, it should be taken into account that due to communication difficulties, they are often unable to report side effects, and the discomfort they experience may be expressed in an increase in the very pathological behavior that the treatment is aimed at. In this regard, when using drugs to control the behavior of children with autism, it is necessary to assess the initial state and subsequent dynamic monitoring of symptoms using quantitative or semi-quantitative methods, as well as careful monitoring of possible side effects. Because autism often co-occurs with mental retardation, most scales used for mental retardation can also be used for autism.

Autism and self-injurious behavior/aggression

• Neuroleptics. Although neuroleptics have a positive effect on hyperactivity, agitation, and stereotypies, in autism they should be used only in the most severe cases of uncontrolled behavior - with a pronounced tendency to self-harm and aggression that is resistant to other interventions. This is due to the high risk of long-term side effects. In controlled studies of the effectiveness of trifluoperazine (Stelazine), pimozide (Orap), and haloperidol in children with autism, it was noted that all three drugs cause extrapyramidal syndromes in this category of patients, including tardive dyskinesia. Risperidone (Rispolept), an atypical neuroleptic, and isulpiride, a benzamide derivative, have also been used in children with autism, but with limited success.

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Autism and affective disorders

Children with autism often develop severe affective disorders. They are more common in patients with autism and pervasive developmental disorders whose IQ corresponds to mental retardation. Such patients account for 35% of cases of affective disorders that begin in childhood. About half of these patients have a family history of affective disorder or suicide attempts. A recent study of relatives of patients with autism noted a high frequency of affective disorders and social phobia. It is suggested that changes in the limbic system found during autopsy of patients with autism may cause disturbances in the regulation of affective state.

• Normothymic agents. Lithium has been used to treat cyclical manic-like symptoms that occur in patients with autism, such as decreased need for sleep, hypersexuality, increased motor activity, and irritability. Previous controlled studies of lithium in autism have been inconclusive. However, numerous reports indicate a positive effect of lithium on affective symptoms in individuals with autism, especially if there is a family history of affective disorders.
• Anticonvulsants. Valproic acid (Depakine), divalproex sodium (Depakote), and carbamazepine (Tegretol) are effective in recurrent symptoms of irritability, insomnia, and hyperactivity. An open-label study of valproic acid showed that it has a beneficial effect on behavioral disturbances and EEG changes in children with autism. Therapeutic blood concentrations of carbamazepine and valproic acid were in the upper range of concentrations effective in epilepsy: 8-12 μg/ml (for carbamazepine) and 80-100 μg/ml (for valproic acid). Both drugs require clinical blood tests and liver function tests before and during treatment. Lamotrigine (Lamictal), a new-generation anticonvulsant, is currently undergoing clinical trials as a treatment for behavioral disturbances in children with autism. Since approximately 33% of individuals with autism have epileptic seizures, it seems reasonable to prescribe anticonvulsants in the presence of EEG changes and epileptiform episodes.

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Autism and anxiety

People with autism often experience anxiety in the form of psychomotor agitation, autostimulating actions, and signs of distress. Interestingly, a study of close relatives of autistic patients revealed a high incidence of social phobia.

• Benzodiazepines. Benzodiazepines have not been systematically studied in autism, perhaps because of concerns about excessive sedation, paradoxical arousal, tolerance, and drug dependence. Clonazepam (Antelepsin), which, unlike other benzodiazepines, sensitizes serotonin 5-HT1 receptors, has been used in patients with autism to treat anxiety, mania, and stereotypy. Lorazepam (Merlite) is usually used only for episodes of acute arousal. The drug can be given orally or parenterally.

Buspirone (Buspar), a partial serotonin 5-HT1 receptor agonist, has an anxiolytic effect. However, there is only limited experience with its use in autism.

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Autism and Stereotypes

• Selective serotonin reuptake inhibitors. Selective serotonin reuptake inhibitors such as fluoxetine (Prozac), sertraline (Zoloft), fluvoxamine (Fevarin), paroxetine (Paxil), citalopram (Cipramil), and the non-selective inhibitor clomipramine may have beneficial effects on some behavioral problems in patients with autism. Fluoxetine has been reported to be effective in autism. In adults with autism, fluvoxamine in a controlled study reduced repetitive thoughts and actions, inappropriate behavior, aggression, and improved some aspects of social communication, especially language. The effect of fluvoxamine did not correlate with age, severity of autism, or IQ. Fluvoxamine was well tolerated, with mild sedation and nausea reported only in a few patients. The use of clomipramine in children is dangerous due to the risk of cardiotoxicity with possible fatal outcome. Neuroleptics (eg, haloperidol) reduce hyperactivity, stereotypies, emotional lability and the degree of social isolation in patients with autism, normalize relationships with other people. However, possible side effects limit the use of these drugs. The dopamine receptor antagonist amisulpiride reduces the severity of negative symptoms in schizophrenia and may have some positive effect in autism, although controlled studies are needed to confirm this effect. Although the effectiveness and good tolerability of clozapine in childhood schizophrenia have been noted, this group of patients differs significantly from children with autism, so the question of the effectiveness of clozapine in autism remains open.

Autism and Attention Deficit Hyperactivity Disorder

• Psychostimulants. The effect of psychostimulants on hyperactivity in patients with autism is not as predictable as in non-autistic children. Usually, psychostimulants reduce pathological activity in autism, but at the same time they can increase stereotypical and ritual actions. In some cases, psychostimulants cause excitement and worsen pathological behavior. This often happens when the attention deficit to the interlocutor is mistaken for a common attention disorder in ADHD and they try to treat it accordingly.
• Alpha-adrenergic agonists. Alpha-adrenergic agonists such as clonidine (clonidine) and guanfacine (estulic) reduce the activity of noradrenergic neurons in the locus coeruleus and, therefore, reduce anxiety and hyperactivity. In controlled studies, clonidine in tablet or patch form has been effective in treating hyperactivity and impulsivity in children with autism. However, sedation and the potential for tolerance to the drug limit its use.
• Beta-blockers. Propranolol (anaprilin) may be useful in reducing impulsivity and aggression in children with autism. During treatment, the cardiovascular system (pulse, blood pressure) should be carefully monitored, especially when the dose is increased to a value that causes a hypotensive effect.
• Opioid receptor antagonists. Naltrexone may have some effect on hyperactivity in autistic children, but does not affect communication and cognitive deficits.

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Forecast

The prognosis for autism in children depends on the timing of onset, regularity, and individual validity of treatment and rehabilitation measures. Statistical data indicate that in 3/4 of cases there is clear mental retardation. [according to Klin A, Saulnier C, Tsatsanis K, Volkmar F. Clinical evaluation in autism spectrum disorders: psychological assessment within a transdisciplinary framework. In: Volkmar F, Paul R, Klin A, Cohen D, editors. Handbook of Autism and Pervasive Developmental Disorders. 3rd ed. New York: Wiley; 2005. Volume 2, Section V, Chapter 29, p. 272-98].

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