Early infantile autism syndrome

A complex of clinical symptoms of abnormal development of the nervous system in a child of the first five years, appearing in a number of neurocognitive and affective disorders, is defined in psychiatry and neurology as early childhood autism syndrome (Kanner syndrome) and covers a wide range of pathological processes in the central nervous system.

Typically, children with autism spectrum disorders (ASD) show some signs of developmental delay already during the first year of life, and in the vast majority of cases, this syndrome occurs in boys.

Epidemiology

According to the US Centers for Disease Control and Prevention (CDC), in 2014 the number of children diagnosed with autism spectrum disorders was the highest in the last 35 years – one child out of 70 children. However, experts are not sure that the number of autistic children has really increased: perhaps doctors have simply started to better identify the pathology.

Studies conducted in Asia, Europe and North America have shown that the prevalence of early-onset autism is 1% of the child population.

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Causes of early infantile autism syndrome

The cause may lie in a chromosomal mutation associated with the epigenetic process of inactivation (breakage) of the paternal X chromosome in boys. The pathology may also be caused by an inherited or spontaneous mutation of the SHANK3 gene, which codes for special proteins of the postsynaptic density (PSD) that connect mediator receptors, ion channels, G-protein excitatory synapses, and also ensure the maturation of dendrites of neurons of the fetal spine in the perinatal period of pregnancy.

In general, scientists are inclined to think that autism, as a complex disorder of the central nervous system, occurs due to a combination of several reasons, but genetic factors account for more than 90%.

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Pathogenesis

Over the past half century, researchers have been trying to determine the exact causes of early infantile autism syndrome and have pointed to a number of possible factors – genetic, metabolic, neurological, and other problems. The theory of autism causality does not exclude prenatal environmental factors, in particular, the teratogenic effects on the embryo and fetus of heavy metals in exhaust gases, phenolic compounds, pesticides, and components of medications taken by pregnant women (especially in the first trimester of pregnancy).

Among the infectious factors are rubella virus, genital herpes virus and cytomegalovirus in the mother (especially in early pregnancy), which activate her immune response and significantly increase the risk of autism and other mental disorders in the child. The cause may be extreme prematurity of the child, that is, birth before 26-28 weeks of pregnancy.

Studies have found abnormalities in the cerebellum that are thought to occur during early fetal brain development and may contribute to early infantile autism syndrome.

Another version of the pathogenesis of autism is based on the assumption that the brain of children with this pathology is damaged in early childhood due to oxidative stress, which has a detrimental effect on Purkinje cells in the cerebellar cortex after birth, due to which the level of total glutathione (an antioxidant intracellular substance) falls, and the levels of oxidized glutathione increase, which indicates increased toxicity in the cells.

But, first of all, the pathogenesis of RAS is associated with a genetic predisposition, since symptoms of autism are detected in 57% of siblings.

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Symptoms of early infantile autism syndrome

Although early infantile autism syndrome is difficult to diagnose in the first year of life, as it manifests itself at 12-18 months, parents may notice the first signs of pathology in a 6-month-old child. A study published in the Journal of Abnormal Child Psychology noted that infants who are later diagnosed with early infantile autism syndrome smile less often than those who do not have the syndrome. Therefore, this may be an early marker of risk for this CNS disorder.

The following symptoms are considered key for early childhood autism syndrome in infants and toddlers:

• the child seems very calm and even lethargic and does not scream to attract attention;
• does not look at mother during feeding (lack of eye contact);
• does not react to the sound of a familiar voice;
• in response to a smile or appeal from relatives, does not smile or express joy (at 6 months);
• he doesn't react at all to hugs or being picked up;
• does not follow moving objects (toys) or an adult's pointing gesture with his eyes;
• does not reach out to grab a toy (at 7-8 months);
• does not imitate sounds or facial expressions of adults (at 9 months);
• does not imitate gestures or use gestures to communicate (at 10 months);
• does not respond to his name (at 12 months);
• does not babble (by 10-12 months);
• does not pronounce individual words (by 16 months);
• does not say two-word phrases (18-24 months).

Complications and consequences

The consequences of early autism appear in older children in the form of a lack of social skills: such children do not communicate and do not play with other children, avoid group games, are not interested in the environment. They have limited facial expressions, extremely difficult verbal and non-verbal communication and understanding of signs, huge difficulties in mastering speech and many language problems. For example, children with autism can mechanically repeat words in the absence of a communicative goal. Also characteristic signs are a negative reaction to touch, fear of loud sounds, repetitive monotonous movements (clapping hands, hitting, rocking the body, etc.).

All this leads to complications. First of all, this is inflexible behavior and the inability to adequately express their emotions: the child may start screaming, crying or laughing for no apparent reason, and at times becomes aggressive. Children have difficulty communicating, adapting to any changes, understanding the feelings of others and expressing their own accordingly.

In the case of obvious early childhood autism syndrome, the child is practically not interested in anything and seems detached. However, children with ASD, as a rule, have a good memory even with deficiencies in abstract thinking.

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Diagnostics of early infantile autism syndrome

Early infantile autism syndrome varies widely in severity, making diagnosis difficult. Doctors say two children with the condition can be very different when it comes to their behavior and abilities.

Diagnosis of early childhood autism syndrome is carried out by a pediatric neurologist after a sufficiently long observation of the child's behavior - to identify and objectively evaluate the characteristics of his social interaction and communication skills. Tests in the form of game tasks can be carried out to assess the level of general development and speech, the degree of motor development and reaction speed.

Symptoms identified in a particular child must meet certain criteria and be compared with a clearly defined scale of symptom intensity.

Also, the doctor – in the process of determining the diagnosis – can involve the child’s parents or caregivers who know him well.

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Differential diagnosis

Differential diagnosis is carried out to distinguish early childhood autism syndrome from other mental disorders, such as Asperger syndrome in children, Rett syndrome, schizophrenia, hyperkinesis in children.

Experts emphasize that timely diagnosis of early childhood autism syndrome, combined with rapid and effective intervention, is of paramount importance to achieve the best prognosis for the child.

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Treatment of early infantile autism syndrome

Today, treatment for early childhood autism syndrome involves maximizing the child's abilities to support his or her development and learning, as well as ensuring the functioning of the central nervous system by reducing the symptoms of the disease.

The strategy of cognitive-behavioral therapy for children aged 2-8 years is based on:

• psychological and pedagogical correction of behavior and communication;
• highly structured educational programs;
• speech therapy classes for speech development and correction;
• game-based activities to teach new skills;
• music and art therapy;
• physiotherapy.

To achieve a positive result, daily individual lessons with the child, his parents and other family members are needed, during which adequate methods of interpersonal interaction and communication, as well as everyday life skills are instilled.

Autism Science Foundation experts believe that no medication can relieve a child of the main symptoms of this disorder, but some pharmacological agents can help control them. For example, antidepressants can be prescribed for increased anxiety, antipsychotic drugs are sometimes used to correct severe behavioral deviations. Medications should be prescribed and monitored by a doctor with appropriate qualifications.

There is no consensus on the use of drugs from these groups in the treatment of early childhood autism syndrome, since this issue is still under study, and the safety and effectiveness of such pharmacological agents for autistic children has not been confirmed by randomized trials. In addition, according to WHO guidelines, psychotropic drugs can only be prescribed to children if they have mania, schizophrenia with hallucinations and delusions, as well as severe psychomotor agitation. Neuroleptic drugs can give unpredictable results, since - given the size of children's livers - their metabolism changes, and side effects increase.

Thus, the neurotropic drug Rispolept (Risperidone) in the form of a solution can be prescribed at 0.25 mg per day (for a body weight of up to 50 kg) in cases of long-term aggression and psychopathic seizures. Side effects of this drug are headache, nausea, vomiting, diarrhea, enuresis, epigastric pain, insomnia, tremor, increased heart rate, nasal congestion, weight gain, upper respiratory tract infections. Rispolept cannot be prescribed for phenictonuria, pregnancy and children under 5 years of age.

Aripiprazole (Arip, Aripiprex) is also an antipsychotic drug for the treatment of symptoms of schizophrenia and bipolar disorders such as aggression, irritability, hysteria and frequent mood swings. This drug was approved by the FDA and EMEA for use "to help children and adolescents with autism when other treatments do not work." Among the contraindications for Aripiprazole, only hypersensitivity to the drug is indicated. Side effects may include weight gain, sedation, fatigue, vomiting, sleep disturbances, tremors, and seizures. The minimum daily dose is 5 mg.

The nootropic drug Pantogam (in the form of syrup) is prescribed for neuroleptic syndromes and intellectual disabilities in children at 250-500 mg 2-3 times a day for a course of 3-4 months. Side effects of the drug include allergic rhinitis, urticaria and conjunctivitis.

Dimethylglycine (DMG) is a derivative of glycine, an amino acid necessary for the synthesis of many important substances in the body, including amino acids, hormones and neurotransmitters. Contraindications to its use are individual intolerance, pregnancy and lactation. The usual dose is 125 mg per day, the course of treatment is no more than 30 days.

Vitamins B1, B6, B12 are prescribed for this pathology. Physiotherapy treatment is also carried out (hydrotherapy, magnetic therapy, electrophoresis); children need feasible physical activity in the form of physical education, see - Exercises for children 2 years old.

Folk remedies

Official medicine does not approve of folk treatment of such a complex neurological pathology as early childhood autism syndrome, especially since therapy should be comprehensive - with behavior correction and development of the child's mental abilities.

And not all home methods can be used by a child. There is a recipe for a drink that is prepared from boiled water, pink grapefruit juice and juice squeezed from fresh ginger root, in a ratio of 5:3:1. It is recommended to take a teaspoon, dessert spoon or tablespoon (depending on the age of the child). Grapefruit juice contains the antioxidant lycopene, and ginger root contains all the B vitamins, as well as fatty omega acids and a number of essential amino acids (tryptophan, methionine, etc.). But ginger is not allowed for children under two years old.

To calm a child, it is recommended to give autistic children microscopic doses of ground nutmeg, which has sedative properties and improves cerebral circulation, dissolved in a small amount of milk. However, this nut contains safrole, which is a psychotropic substance, and it is better not to give it to children without the knowledge of a doctor.

Herbal treatment is most often based on the internal use of decoctions of lemon balm and field bindweed, as well as ginkgo biloba leaves. The decoction is prepared at the rate of 5 g of dry grass (chopped roots) per 250 ml of water, boiled for 10-15 minutes and, when cooled, given 1-2 tablespoons three times a day (25-30 minutes before meals).

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Prevention

Prevention of autism syndrome in young children and related manifestations is impossible, but doctors advise pregnant women to take vitamins (in particular, folic acid) and monitor their health...

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Forecast

The prognosis is individual. With treatment and developmental support, the child can improve his or her language and social skills. Children with autism spectrum disorders typically continue to learn and compensate for problems throughout life, but most still require some level of support. However, early childhood autism syndrome can worsen behavioral problems in adolescence.

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