The physiological basis of the disease are structural changes in various parts of the brain. They can be triggered by various factors – endogenous (internal) or exogenous (external), genetic.
The causes of atypical autism are divided into three large groups:
- Hereditary burden. More than half of the patients have close relatives identified with the same diagnosis. At the end of the 20th century, researchers discovered a gene responsible for autism. Its presence does not guarantee the development of the disease, but increases the risk when other factors influence.
- Prenatal and natal complications. The probability of autism increases with a complicated period of pregnancy and childbirth. Most of the sick children were subject to intrauterine hypoxia, infections, toxemia, and were born prematurely.
- Somatic and mental illness. Severe psychotic variants of autism make their debut with the malignant course of childhood schizophrenia and a number of genetic diseases. Symptomatically, they appear with phenylketonuria, CMVI, epilepsy.
The pathophysiological basis of the disease is brain damage. The triggering mechanism for the debut of autism is the impact of a damaging factor at a certain age, which coincides with a critical period in the development of body systems, especially the central nervous system. Ontogenesis of the nervous system is a sequence of crises that provide qualitative changes in mental and physiological processes.
These periods are characterized by increased sensitivity to adverse factors. The emergence of severe forms of atypical autism occurs at the age of 16-18 months and coincides with important structural ontogenetic processes in the brain, the peak of the natural death of neurons in the visual cortex.
Atypical Autism Classification
According to ICD-10, there are two types of pathology. The first is atypical autism, combined with oligophrenia. Includes all types of mental retardation with autistic features, the nature of the flow – low progremental. This form is found in Martin-Bell syndrome. The second type is atypical autism without intellectual deficiency. It is also called atypical childhood psychosis, an atypical psychotic disorder in children. This variant of the disease is detected in Rett syndrome, Down syndrome and childhood malignant schizophrenia.
There are three common stages of atypical psychosis:
- Autistic. Its duration is from 4 weeks to six months. Key manifestations are detachment, extinction of emotional reactions, increase in passivity. Natural development stops, autism deepens.
- Regressive. It takes place from six months to a year. Characterized by increased symptoms of autism, reduction of speech and hygiene skills. Patients begin to eat inedible, a significant part of their physical activity are stereotypes.
- Catatonic. It is the longest, lasts from one and a half to two years. The depth of autism decreases, catatonic disorders appear – motor excitement with stereotypes. Patients whirl, jump, swing the body, run in circles.
After the catatonic stage is completed, a gradual withdrawal from psychosis occurs. During remission, persistent hyperkinetic disorders with impulsivity, neurosis-like symptoms in the form of primitive obsessive actions are observed. Manifestations of autism are reduced, weak cognitive activity appears, reactions to those around you, understanding of reversed speech, and neatness skills are restored.
Remains stable from reality, emotional coldness in relationships, stereotypical forms of activity.
Symptoms of atypical autism
One of the key manifestations of pathology is a violation of the ability to establish social contacts. This symptom is pronounced or weak. In a stable period, patients do not refuse to communicate, but can not start and maintain a conversation. In severe forms of autism, there is a pronounced desire to be alone, to isolate oneself from the outside world. Patients do not want to interact with people through speech, gestures or attitudes. Attempts to force contact cause impulsive emotional and motor reactions – cry, cry, self-harm, aggression. A specific speech disorder includes the inability to formulate and express one’s own thoughts, in difficult cases it is difficult to understand the converted phrases and words. Abstraction ability is lost – patients do not understand the figurative meaning of expressions, sarcasm, humor.
Affective coldness is characterized by difficulties in expressing emotions, feelings and experiences. Patients seem indifferent and indifferent to what is happening, unable to rejoice, to be sad. They cannot empathize, show love or hate. In children, an emotional relationship with the mother often manifests as pathological affection, based on the fear of unfamiliar situations, objects and people, and not on love and the need for maternal care. Excessive irritability of patients due to hypersensitivity to external factors.
The rigidity of the psychomotor sphere is represented by stereotypes and lack of flexibility of thinking. Motor activity includes various options for repetitive unfocused actions: patients knock objects on hard surfaces (toys on the floor, spoon on the table), swing in a sitting or standing position, walk in a circle or around the room perimeter. Due to a pronounced decrease in adaptive abilities in case of any changes in the environment or daily routine, there is a feeling of fear, panic. Patients seek to live in the environment of familiar things, to perform the same rituals day after day.
Another symptom is sensory disturbances. In autists, the perception and processing of sensory information from visual, auditory, tactile, olfactory, and taste analyzers is different. This disrupts the process of cognition of reality, and sometimes manifests itself with unusual abilities, for example, eidetic memory, synesthesia.
Patients with pediatric malignant schizophrenia experience regressive catatonic seizures, the depth of the autistic component progresses to a severe degree. In patients with Rett syndrome, autism increases gradually, from mild to severe, then the stage of regression begins, in the outcome negativity, motor agitation and impulsivity, stereotypical movements and actions are formed. Seizures of catatonia with regression at 12-14 months of life are typical for fragile X chromosome syndrome. In the period of psychosis, the depth of autism is heavy, and in remission it is light and moderate.
At the end of the psychotic state, catatonia and stuporous states, echolalia, selective mutism are observed. With trisomy 21 chromosome, the disorder manifests itself in 24-36 months, has the character of a regressive-catatonic psychosis with a sequential change of all three stages. The psychosis ends 4-7 months after the onset, and the severity of autism subsides.
The quality of life of patients remains unsatisfactory. Almost all patients are out of public relations, do not have social support to create the future, are significantly limited in the possibilities of self-determination, education, employment. The main reason for the development of complications is a social deficit.
Children suffering from atypical forms of autism, have difficulty in learning, need individualized intensive psychological and pedagogical support. Adults do not create families, do not realize themselves in the profession. If autism is combined with a pronounced disorder of receptive speech or severe oligophrenia, patients need constant care.
Diagnosis of atypical autism
The diagnosis of atypical autism is confirmed by a psychiatrist. In addition to him, a pediatrician, a neurologist, and a clinical psychologist take part in the examination of a patient. A number of criteria are used for the diagnosis: anomalous development according to the type of diontogenesis, manifestation without reference to an early age, symptoms of qualitative disturbances of social interaction and / or stereotype, lack of necessary criteria for child autism.
Examination of patients includes the following methods:
- Clinical conversation. Informative clinical and anamnestic data are provided by parents, and when the patient is in a medical institution – by staff. A conversation with a patient is possible in rare cases, after several meetings with a doctor (after getting used to it). In speech, repetition of phrases, echolalia, monosyllabic answers, and stories about himself are noted in the third person (“Misha went to sleep,” “he does not want to eat”).
- Observation Analysis of immediate emotional and behavioral reactions is the main way to obtain diagnostic information. At the first meeting, patients often do not come into contact, tend to avoid contact with the doctor (cry, show aggression). Later, more diverse manifestations of the disease are found: stereotypes, coldness of emotions, lack of interest in social interaction.
- The study of cognitive functions. When diagnosing it is important to differentiate psychotic autism from autism with oligophrenia. The study of the cognitive sphere is complicated by the violation of interpersonal interactions, speech development. The psychologist uses non-verbal techniques – collecting pyramids, compiling individual pictures and story stories, Spit cubes, the Raven progressive matrix test.
- EEG. According to electroencephalography confirmed the probability of diagnosis. In a stable psychosis, the theta rhythm is determined, at the regressive stage – the reduction of the alpha rhythm, in a catatonic-regressive psychosis the theta rhythm is not detected, the beta rhythm is enhanced. During remission, the alpha rhythm is restored, theta activity decreases or disappears completely.
Treatment of atypical autism
In relation to patients with autism, it is more correct to speak not about isolated therapy, but about complex medical, psychological and pedagogical support, aimed at improving the quality of life, freedom and independence in everyday affairs, restoring subjectivity in society. A unified care scheme has not been developed, because there is no method or system equally effective for all patients.
The approach is always individual, implemented in three directions:
- Intensive structured education. Teaching and behavioral methods are focused on mastering the skills of self-help, communication, useful work. Their formation increases the level of functioning, reduces the severity of symptoms, corrects non-adaptive forms of activity. Applied behavioral analysis techniques, speech therapy classes, and occupational therapy are widely used.
- Drug therapy. Severe autistic symptoms are relieved with medication. Many patients are prescribed psychotropic or anticonvulsant drugs. Antidepressants, psychostimulants, anticonvulsants are relatively safe. In severe psychomotor agitation, antipsychotics are used, however, they can provoke an atypical reaction or side effects. For this reason, their use is justified only in cases of uncontrolled behavior with aggression, self-harm.
- Social rehabilitation. With the restoration of social activity of patients practiced inclusive approach to education and the implementation of professional duties. Rehabilitation activities are carried out in a comprehensive manner, with a group of specialists – psychiatrists, medical psychologists and special teachers, speech therapists, defectologists, exercise therapy instructors, music and art teachers. Integrative groups are being created in educational institutions and in large enterprises.
A positive outcome in overcoming cognitive impairment, restoring self-care and communication skills, improving motor skills and adaptation in a family setting is possible with early detection of the disease and urgent remedial work, including special training, pharmacotherapy and the involvement of patients in social institutions. With active therapy, the symptoms do not progress, the mental state is approaching normal (if there is no severe oligophrenia). Preventive measures are not currently developed.
Atypical autism is a neuropsychiatric disorder caused by structural disorders of the brain and characterized by diontogenesis. Manifested by limited social interactions, reduced cognitive activity, speech and motor stereotypes. Patients have a disturbed perception of reality, a specific thinking, often there is an intellectual underdevelopment. A clinical examination is carried out by a psychiatrist and a neurologist, and an EEG and psychological testing are additionally prescribed. Patient care includes medication, special intensive training and rehabilitation.
Atypical autism is most common among patients with deep oligophrenia, as well as among patients with severe specific disorders of speech development, providing an understanding of grammatical structures, intonations, gestures.
The disorder got its name due to the peculiarities of the clinical picture, atypical is either the debut age (after 3 years), or a complex of symptoms – the disease can manifest itself in the first 3 years of life, but of the three mandatory clinical criteria of XRD (stereotypy, speech and communication disorders) only two or one are determined. The epidemiology of an atypical form of autism is 0.02%. Among patients with a predominantly male.