Autism in children

Autism in children (synonyms: autistic disorder, infantile autism, infantile psychosis, Kanner's syndrome) is a common developmental disorder, manifested in an age of up to three years of abnormal functioning in all types of social interaction, communication, limited, repetitive behavior.

The symptoms of autism occur in the first years of life. The cause in most children is unknown, although the signs suggest the role of a genetic component; in some children, autism can be caused by an organic disease. Diagnosis is based on the history of development and monitoring the development of the child. Treatment consists of behavioral therapy and sometimes drug treatment.

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Epidemiology

Autism, a developmental disorder, is the most common of the common developmental disorders. The incidence is 4-5 cases per 10 000 children. Autism is about 2-4 times more common in boys, in whom it has a heavier current and is usually accompanied by a hereditary burden.

Given the wide clinical variability of these conditions, many are also referred to as ORPs as diseases of the autism group. In the last decade there has been a rapid increase in the detection of diseases in the autism group, partly because diagnostic criteria have changed.

[4], [5], [6], [7], [8], [9], [10], [11], [12]

Causes of the autism in the child

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

Serious evidence has been found confirming the role of the genetic component in the development of autism. At parents of the child with ORP the risk of birth of the next child with ORP is 50-100 times higher than usual. Concordance of autism is high in monozygotic twins. Studies involving families of patients with autism have suggested several areas of genes-potential targets, including those associated with the encoding of neurotransmitter receptors (GABA) and structural CNS control (HOX genes). Also assumed the role of external factors (including vaccination and various diets), which, however, have not been proven. Disturbances in the structure and function of the brain are probably largely the basis of the pathogenesis of autism. In some children with autism, the ventricles of the brain are enlarged, others have hypoplasia of the cerebellum worm, and some have anomalies 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 leaving the fantasy world, but rather characterized by a violation of the formation of social consciousness. Kanner also described other pathological manifestations, such as delayed speech development, limited interests, stereotypes. Currently, autism is considered as a disease with a disruption of the central nervous system, manifested in early childhood, usually up to 3 years of age. Currently, autism is clearly differentiated from infrequently occurring childhood schizophrenia, but the key defect underlying autism has so far not been identified. Different hypotheses based on the theory of intellectual, symbolic deficiency or deficiency of cognitive executive functions over time have received only partial confirmation.

In 1961, patients with autism had an increase in blood serotonin (5-hydroxytryptamine) levels. Later it was found that this is due to an increase in serotonin levels in platelets. Recent studies have shown that treatment with selective serotonin reuptake inhibitors reduces aggression in some patients, whereas a reduction in serotonin in the brain increases stereotypes. Thus, a disturbance in the regulation of serotonin metabolism can explain some manifestations of autism.

Autism is considered as a spectrum of disorders, with the most severe cases manifested by classic symptoms, such as delayed speech development, lack of communication, stereotypes that develop at an early age. In 75% of cases, autism is accompanied by mental retardation. The opposite end of the spectrum is represented by Asperger's syndrome, autism with a high level of functioning and atypical autism.

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Symptoms of the autism in the child

Autism usually manifests in the first year of life and must be manifested before the age of 3 years. The disorder is characterized by atypical interaction with others (ie, lack of attachment, inability to have close contact with people, lack of response to other people's emotions, avoidance of sight), persistent following the same order (for example, stubborn rejection of changes, rituals, persistent affection to familiar objects, repetitive movements), speech disorders (ranging from complete dumbness to late development of speech and to pronounced features of language use), as well as uneven intellectual e development. Some children experience self-harm. Approximately 25% of patients are diagnosed with loss of acquired skills.

According to the theory accepted today, the fundamental problem of diseases of the autism group is considered to be "spiritual blindness", i.e. The inability to imagine what another person might think about. It is believed that this leads to a violation of interaction with others, which, in turn, leads to anomalies of speech development. One of the earliest and most sensitive marker of autism is the inability of a year-old child to indicate when communicating on subjects. It is assumed that the child can not imagine that another person can understand what he is pointing at; instead, the child indicates what he needs, only by physically touching the desired object or using the adult's hand as an instrument.

Neo-traumatic neurological signs of autism include impaired gait coordination and stereotyped movements. Seizures develop in 20-40% of these children [especially with an IQ of less than 50)].

Clinically, there are always qualitative violations of social interaction, manifested in three basic forms.

• Refusal to use the available speech skills in social interaction. In this case, speech develops with a delay or does not appear at all. Non-verbal communication (gaze contact, mimic expression, gestures, body postures) is practically inaccessible. Approximately in 1/3 of cases, speech underdevelopment is overcome by 6-8 years, in most cases speech, especially expressive, remains underdeveloped.
• Violation of the development of selective social attachments or reciprocal social interaction. Children are not able to establish warm emotional relationships with people. Equally behave like with them, and with inanimate objects. Do not show a special reaction to the parents, although there may be some kind of symbiotic attachment of the child to the mother. They do not aspire to communicate with other children. There is no spontaneous search for shared joy, common interests (for example, a child does not show other people interested in his subjects and does not draw attention to them). Children do not have a socio-emotional reciprocity, which is manifested by a disturbed reaction to the emotions of other people or the lack of modulation of behavior in accordance with the social situation.
• Violations in role-playing and social-imitation games, which are stereotyped, non-functional and non-social. Observe attachment to unusual, more often hard objects, with which atypical stereotyped manipulations are carried out, games with unstructured material (sand, water) are characteristic. They note an interest in certain properties of objects (for example, smell, tactile qualities of the surface, etc.).
• Limited, repetitive and stereotyped behavior, interests, activity with the obsessive desire for monotony. Changing the habitual life stereotype, the appearance of new people in these children causes reactions of avoidance or anxiety, fear accompanied by crying, crying, aggression and self-aggression. Children resist all new things - new clothes, the use of new food products, change of habitual routes of walks, etc.
• In addition to these specific diagnostic signs, you can observe such nonspecific psychopathological phenomena as phobias, sleep and eating disorders, excitability, aggression.

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F84.1 Atypical autism.

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

The type of general mental disorder of psychological development that differs from childhood autism or the age of onset, or the absence of at least one of the three diagnostic criteria (qualitative anomalies in social interaction, communication, limited repeated 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 his inability to understand the emotional state of other people and to enter into contact with peers. It is assumed that these children have a personality disorder compensated by special achievements in any one limited area, usually associated with intellectual pursuits. More than 35% of people with Asperger syndrome have comorbid psychiatric disorders - including affective disorders, obsessive-compulsive disorder, schizophrenia.

Autism with a high level of functioning can not be clearly differentiated from Asperger's syndrome. Nevertheless, for Asperger's syndrome, unlike autism with a high level of functioning, a neuropsychological profile characterized by the presence of "strong" and "weak" cognitive functions and difficulties in non-verbal learning is characteristic. Projective tests show that people with Asperger's syndrome have a richer inner life, more complex, refined fantasies, are more focused on inner experiences than patients with autism with a high level of functioning. Recently, a study in both groups of patients with pedantic speech showed that it is more common in Asperger syndrome, which can help in differentiating these conditions.

"Atypical autism" is a condition that does not meet the age-at-start criteria and / or three other diagnostic criteria for autism. The term "general (pervasive) developmental disorder" is widely used in the official nomenclature, but its significance is not exactly defined. It should be considered as a general term, combining all the states considered in this section. General developmental disorder without further clarification (ORP-BDU) is a descriptive term used in children with atypical autism.

Rett syndrome. Rett syndrome and disintegration disorder of childhood are phenomenologically close to autism, but pathogenetically, probably, are different from it. Rett's syndrome was first described by Andreas Rett (A. Rett) in 1966 as a neurological disorder that mainly affects the girls. In this genetically determined disease, up to 6-18 months the child develops normally, but later severe mental retardation, microcephaly, inability to perform targeted movements by hands, replacing stereotypes by the type of rubbing of hands, trembling of the trunk and extremities, unstable delayed gait, hyperventilation, apnea, aerophagy, epileptic seizures (in 80% of cases), grinding of teeth, difficulty in chewing, decreased activity. Unlike autism, with Rett's syndrome, normal social development is usually observed in the first months of life, the child adequately interacts with others, clings to the parents. In neuroimaging, diffuse cortical atrophy and / or underdevelopment of the caudate nucleus decrease with decreasing volume.

Disintegration disorder of childhood (DRD), or Heller's syndrome - a rare disease with an unfavorable prognosis. In 1908, Heller described a group of children with acquired dementia ("dementia infantilis"). These children up to 3-4 years of normal mental development, but then there were changes in behavior, loss of speech, mental retardation. Modern criteria for this disease require externally normal development before the age of 2, followed by a significant loss of previously acquired skills such as speech, social skills, control of urination and defecation, games and motor skills. In addition, there must be at least two of the three manifestations characteristic of autism: speech disorders, loss of social skills and stereotypes. In general, the disintegration disorder of childhood is a diagnosis of exclusion.

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Diagnostics of the autism in the child

The diagnosis is made clinically, usually for its formulation, it is necessary to have signs of a violation of social interaction and communication, as well as the presence of limited, repetitive, stereotyped behavior or interests. Screening tests include the Social Communication Questionnaire, M-SNAT and others. Diagnostic tests considered to be the "gold standard" for diagnosing autism, such as the Autism Screening Program (ADOS), based on the DSM-IV criteria, are usually conducted by psychologists. Children with autism are difficult to test; they usually do better with non-verbal tasks than with verbal ones in determining IQ, in some non-verbal tests they can have results corresponding to age, despite the delay in most areas. Nevertheless, the test for the definition of IQ, conducted by an experienced psychologist, can often provide useful data to judge the forecast.

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Diagnostic criteria of autism

A. In the sum of at least six symptoms from sections 1, 2 and 3, for at least two symptoms from the distributed 1 and at least one symptom from Sections 2 and 3.

1. A qualitative violation of social interaction, manifested by at least two of the symptoms listed below:
   • expressed violation in the use of various types of non-verbal means (meeting of views, facial expressions, gestures, postures) for the regulation of social interaction;
   • impossibility to establish relations with peers, corresponding to the level of development;
   • the lack of spontaneous aspiration for general pursuits, interests and achievements with other people (for example, does not roll does not indicate or brings to other people objects that are interested);
   • lack of social and emotional ties.
2. Qualitative disorders of communication, expressed in at least one symptom from the ones listed below:
   • slow or complete absence of development of the spoken language (not accompanied by attempts to compensate for the defect by alternative ways of communication, for example, gestures and facial expressions);
   • in persons with adequate speech - a pronounced violation of the ability to start and maintain a conversation with others;
   • stereotyped and re-use of linguistic means or idiosyncratic language;
   • the absence of a variety of spontaneous games for faith or social role games corresponding to the level of development.
3. A limited repertoire of repetitive and stereotypical actions and interests, manifested by at least one of the following symptoms:
   • preferential absorption by one or several stereotyped and limited interests, pathological due to its intensity or direction;
   • repetition of the same meaningless actions or rituals - outside the context of the situation;
   • stereotyped repetitive mannered movements (for example, flapping or rotation by hands, complex movements of the entire body);
   • constant interest in certain parts of objects.

B. Delay in development or impairment of life in one of the following areas, manifested before 3 years of age:

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

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

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Autism Diagnostic Criteria and Diagnostic Scales

Several standardized scales are used to evaluate and diagnose autism. Modern research protocols are based mainly on the use of a revised version of the Autism Diagnostic Interview-Revised (ADI-R). But this technique is too cumbersome for everyday clinical practice. In this respect, 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 Averrant Behavior Checklist-Community Version (ABC-CV), and for assessing hyperactivity and attention impairment, the Connors scales.

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Treatment of the autism in the child

The treatment is usually carried out by a team of specialists, according to the results of recent studies, data have been obtained that attest to a certain degree of advantages in the use of intensive behavioral therapy, which stimulates interaction and expressive communication. Psychologists and educators, as a rule, concentrate on behavioral analysis, and then lead the strategy of behavioral treatment in accordance with specific behavioral problems at home and at school. Speech therapy should start early and use a number of activities such as singing, sharing pictures and talking. Physiotherapists and occupational therapists plan and apply strategies to help children to compensate for certain deficiencies in motor function and movement planning. Selective serotonin reuptake inhibitors (SSRIs) can improve control over behavior with rituals and repetitive stereotyped behavior. Antipsychotic drugs and mood stabilizers, such as valproate, can help control self-injurious behavior.

Treatment of autism, as well as treatment of mental retardation, requires a set of effects aimed at correcting various aspects of the patient's life: social, educational, psychiatric and behavioral. Some experts consider behavioral therapy as the main component of the treatment of autism. To date, more than 250 studies have evaluated the effectiveness of various behavioral therapy techniques. The "targets" to which behavioral therapy should be directed can be divided into several categories - inadequate behavior, social skills, speech, domestic skills, academic skills. To solve each of these problems, special methods are used. For example, inadequate behavior can be subjected to functional analysis to identify predisposing external factors to which psychotherapeutic intervention should be directed. Behavioral techniques can be based on positive or negative reinforcement with the effect of suppression. Other therapeutic approaches, such as functional communication and occupational therapy, can reduce symptoms and improve the quality of life of children with autism. Nevertheless, symptoms that are not directly associated with external factors or relatively independent of external conditions are often observed. Similar symptoms may respond better to pharmacotherapeutic intervention. The use of psychotropic drugs in autism involves a thorough assessment of the clinical status and a clear interaction with other therapies within the framework of an integrated multimodal approach.

When deciding on the appointment of psychotropic drugs, many psychological and family problems associated with the presence of a patient with autism should be taken into account. Carrying out medical treatment, it is necessary to respond in a timely manner to such possible psychological problems as hidden aggression directed against the child, and the insoluble guilt feelings of the parent, unrealistic expectations in connection with the beginning of pharmacotherapy and the desire for a magical cure. In addition, it is important to keep in mind that only a few of the drugs assigned to children with autism have gone through controlled trials. When psychotropic drugs are prescribed to patients with autism, it must be borne in mind that, due to communication difficulties, they are often unable to report side effects, and the discomfort they experience can be expressed in an increase in the pathological behavior to which the treatment is directed. In this regard, when using drugs to control behavior in children with autism, an assessment of the baseline condition and subsequent dynamic observation of symptoms by quantitative or semi-quantitative techniques are necessary, as well as careful monitoring of possible side effects. Since autism is often combined with mental retardation, most scales used for mental retardation can also be used in autism.

Autism and auto-aggressive actions / aggression

• Neuroleptics. Although neuroleptics have a positive effect on hyperactivity, excitation, stereotypes, autism should be used only in the most severe cases of uncontrolled behavior - with a pronounced tendency to self-harm and aggressiveness, resistant to other interventions. This is associated with a high risk of long-term side effects. In controlled studies of the efficacy of trifluoperazine (stelazine), pimozide (orapa), 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

The children with autism often develop marked affective disorders. They are more often observed in those patients with autism and general developmental disorders, in which the intelligence coefficient corresponds to mental retardation. Such patients account for 35% of cases of affective disorders beginning in childhood. Approximately half of these patients in the family history have cases of affective disorder or suicidal attempts. A recent study of relatives of autistic patients noted a high incidence of affective disorders and social phobia. It is suggested that changes in the limbic system, found at autopsy of patients with autism, can cause disturbance in the regulation of the affective state.

• Normotimicheskie means. Lithium was used to treat cyclical manic-like symptoms that occurred in patients with autism, such as decreased sleep demand, hypersexuality, increased motor activity, irritability. Previously conducted controlled studies of lithium drugs in autism did not allow reaching certain conclusions. However, numerous reports indicate a positive effect of lithium on affective symptoms in individuals with autism, especially if they have had a history of affective disorders in their family history.
• Anticonvulsants. Valproic acid (depakin), sodium divalproex (depakot) and carbamazepine (tegretol) are effective in cyclical symptoms of irritability, insomnia and hyperactivity. An open study of valproic acid has shown that it favorably affects behavioral disorders and EEG changes in children with autism. The therapeutic level of concentration of carbamazepine and valproic acid in the blood appeared in the upper part of the concentration range effective for epilepsy, 8-12 μg / ml (for carbamazepine) and 80-100 μg / ml (for valproic acid). When both drugs are used, a clinical blood test should be performed and the liver function tested before treatment and regularly during the treatment. Currently, clinical trials of lamotrigine (lamiktal) - anticonvulsant new generation - as a means of treating behavioral disorders in children with autism. Since approximately 33% of individuals with autism suffer 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, signs of distress. It is curious that the study of the immediate relatives of autistic patients showed them a high frequency of social phobia.

• Benzodiazepines. Benzodiazepines were not systematically examined for autism, probably due to fears of excessive sedation, paradoxical arousal, development of tolerance and drug dependence. Clonazepam (antelepsin), which unlike other benzodiazepines, increases the sensitivity of serotonin 5-HT1 receptors, was used in patients with autism to treat anxiety, mania and stereotypy. Lorazepam (merlot) is usually used only in cases of acute arousal. The drug can be administered orally or parenterally.

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

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Autism and stereotypy

• Selective serotonin reuptake inhibitors. Selective serotonin reuptake inhibitors, such as fluoxetine (Prozac), sertraline (zoloft), fluvoxamine (feravin), paroxetine (paxil), citalopram (cipramil), and a nonselective clomipramine inhibitor may have a positive effect on certain behavioral disorders in patients with autism . Fluoxetine has been reported to be effective in autism. In adults with autism, fluvoxamine in a controlled study reduced the severity of repetitive thoughts and actions, inadequate behavior, aggressiveness, and improved certain aspects of social communication, especially those associated with speech. The effect of fluvoxamine was not correlated with age, severity of autism, or IQ level. The tolerability of fluvoxamine was good, only a few patients had a mild sedative effect and nausea. The use of clomipramine in children is dangerous because of the risk of a cardiotoxic effect with a possible fatal outcome. Neuroleptics (for example, haloperidol) reduce hyperactivity, stereotypes, 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 antagonist of dopamine receptors amisulpiride reduces the severity of negative symptoms in schizophrenia and may have some positive effects in autism, although controlled studies are needed to confirm this effect. Although efficacy and good tolerability of clozapine in pediatric schizophrenia are noted, this group of patients is significantly different 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 that of nonautical children. Usually psychostimulants reduce pathological activity in autism, but at the same time can enhance stereotyped and ritual actions. In some cases, psychostimulants cause excitation and aggravate pathological behavior. This often occurs in cases when attention deficit to the interlocutor is taken as a usual disturbance of attention in FEC and tries to treat it accordingly.
• Agonists of alpha-adrenergens. Alpha-adrenergic agonists, such as clonidine (clonidine) and guanfacine (estulik), reduce the activity of the noradrenergic neurons of the blue spot and, therefore, reduce anxiety and hyperactivity. In controlled studies, clonidine in tablet form or in the form of an epidermal patch has proven to be effective in the treatment of hyperactivity and impulsivity in children with autism. However, the sedative effect and the possibility of developing tolerance to the drug limit its use.
• Beta-blockers. Propranolol (anaprilin) may be useful for impulsivity and aggressiveness in children with autism. During treatment, you need to carefully monitor the condition of the cardiovascular system (pulse, blood pressure), especially when the dose is brought to the value that causes the hypotensive effect.
• Opioid receptor antagonists. Naltrexone may have some effect on hyperactivity in autistic children, but it does not affect communicative and cognitive defects.

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Forecast

The prognosis for autism in children depends on the timing of the onset, regularity, individual validity of treatment and rehabilitation measures. Statistics show that in 3/4 of cases there is a 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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