Autism in children

Introduction to Pediatric Autism Autism in children, childhood autism, is a subtype of extensive developmental disorder. It is more common in men and occurs in infants and young children. It is mainly characterized by varying degrees of speech developmental disorders, interpersonal barriers, narrow interests and behaviors. Stereotypes, about 3/4 of patients have significant mental retardation, and some children have certain specific functions (island-like ability) in the context of general mental retardation. basic knowledge Sickness ratio: 0.1% Susceptible people: children Mode of infection: non-infectious Complications: Intelligence disorders Epilepsy Tuberous sclerosis Phenylketonuria

Causes of childhood autism

(1) Causes of the disease

The cause of autism is still unclear, but the more positive conclusion is that the disease is unlikely to be caused by psychosocial factors. The discussion of etiology is now described as follows.

Genetics

The children with autism and language disorders in the family of autism are significantly more common than the normal population. The risk of autism among siblings is 50 times higher than that of the general population, suggesting that the onset of autism is genetically related, from fragile X syndrome. Related, the characteristics of male disease more than female and the genetic structure of twin interactions suggest that the genetic basis of autism is an indisputable fact, and Pericak-Vance uses the latest genetic probing techniques to obtain results. The paternal effect on chromosome 7 and the maternal effect on chromosome 15, that is, the father and mother may carry autism susceptibility genes on chromosomes 7 and 15, respectively. The results of this study reveal the genetic cause of autism. Possible mechanisms afterwards.

2. Perinatal factors

In the perinatal period, children with autism have various complications, such as birth injury and intrauterine asphyxia, which are significantly higher than the normal control group. The survey found that most children with autism less than 5 years old have clear etiology of definite brain development retardation. Diagnosis, and its high-risk factors in prenatal, mid-natal and neonatal periods are significantly higher than the general population. Studies have suggested that children with autism with prenatal and intracranial brain damage show some loneliness from birth. Sexual symptoms; children with postnatal brain injury factors develop autistic symptoms after a period of normal development.

3. Imaging studies

Structural brain imaging (CT and MRI) found that the total brain volume and left and right ventricle volume of children with autism were significantly greater than the control group, while the volume of the brainstem and right anterior cingulate gyrus was significantly reduced, functional brain imaging techniques ( SPECT and PET) found that patients' cerebral cortex metabolism was diffusely weakened and local cerebral blood perfusion was reduced, but the number of samples was small, and the cognitive abnormalities of autism could not be accurately explained.

4. Immunology research

In some children with autism, the number of T lymphocytes decreased, the number of helper T cells and B cells decreased, the inhibition of T cell deficiency, and the decrease of natural killer cell activity, suggesting that autism is associated with abnormal immune system function. Some patients have recently been found. Myelin matrix protein antibody is more than 6 times higher than the control group, suggesting that there is brain cell antigen cell-mediated response in autistic patients, that is, autism may be an autoimmune disease.

5. Biochemical research

About one-third of patients have 5-HT hyperactivity. A small sample of Chugani et al found that 5-HT synthesis is abnormal in the dentate nucleus-thalamic-cortical pathway in children with autism, and 5-HT synthesis in non-autistic children. The ability is 2 times stronger than adults before the age of 5 and lowers to the adult level after 5 years of age. In contrast, this ability of autistic children has gradually increased during the age of 2 to 15 and reached 1.5 times that of adults. The human brain has a high-intensity 5-HT synthesis process in childhood. Autistic patients have disorders of this developmental process. The latest research suggests that the patient's brain contains too much opioid content and the patient's loneliness, emotional numbness and difficulty in establishing Related to emotional connections, plasma endorphin levels are associated with the severity of stereotypic exercise.

(two) pathogenesis

Some data suggest that the disease is related to heredity: 1 Certain genetic diseases such as phenylketonuria, fragile X syndrome are often associated with symptoms of autism; 2 some reports indicate that 2% to 6% of siblings in this disease Suffering from this disease, it is 50 times higher than the general population; 3 some people studied 21 pairs of twins, including 11 pairs of single eggs, 4 pairs of patients (36%), 10 pairs of double eggs, no case of the same disease, and later someone Similar results were obtained with larger samples (Ritvo et al., 1985). Some people think that genetics mainly causes cognitive dysfunction, light ones are difficult to learn, and the severe ones are autism. According to current data, children with autism At least some of it is related to heredity.

Some studies have found that autism is associated with organic brain damage. If these damages occur in prenatal or perinatal period, the symptoms of the disease appear after birth; if they occur in early childhood, there may be a normal developmental period after birth. About 2% to 5% of children with fragile X syndrome, 15% to 50% of children with seizures, EEG, evoked potentials, CT can be found non-specific abnormalities (not enough as a basis for diagnosis), MRI also has non-specific abnormalities. Some people have found that the patients have cerebellar lobular dysplasia in MRI. They may be specific, but they have not been confirmed by others. PET has found that many brain regions have increased glucose metabolism, but they are also non-specific.

Intelligence tests found that low IQs had an increased incidence of seizures, seizures, social dysfunction, self-mutilation and peculiar behavior, poor prognosis, and many children with delayed left brain development (expressed as left-handed), primitive reflexes and soft bodies of the nervous system. Signs, small deformities of the body, there is a report that this child has 80% dexamethasone inhibition test positive.

There have been reports of elevated dopamine metabolites in cerebrospinal fluid in children, and there have been reports of an increase in blood serotonin levels in about 1/3 of children, but its significance is unclear.

Immunological examinations have also been found to be abnormal. For example, 5-HT1A autoantibodies are found in the blood and cerebrospinal fluid of some children, but they are not sufficient as a basis for diagnosis.

In short, so far, in the clinical and laboratory tests of neurology, no "primary damage" enough to cover most autistic patients has been found.

Pediatric autism prevention

Early prevention

Strengthen perinatal health care, achieve prenatal and postnatal care, and prevent harmful substances such as tobacco, alcohol, and poison.

2. Early intervention

If an 18-month-old baby has some of the following characteristics, it is likely to be diagnosed with autism at 30 months, and we should attach great importance to and intervene in this part of high-risk children.

(1) There is no line of sight, lack of facial expression, and there is no corresponding expectation of being hugged when being embraced; calling their names is often unresponsive.

(2) Do not pay attention to the faces and expressions of the people around you, and pay too much attention to the surrounding sound or light.

(3) repeatedly imitating other people's words or talking to themselves or screaming without reason, shouting; laughing for no reason or suddenly laughing.

(4) Ignoring children of the same age around them, often ritually playing with toys, and not allowing others to change the fixed pattern of things.

(5) There are often strange finger activities, or often run in circles, repeated bouncing or biting hands, hitting the head and other self-injury behavior.

(6) The meaningful words that have been said before the age of 1 have gradually disappeared.

Pediatric autism complications Complications, mental retardation, epilepsy, tuberous sclerosis, phenylketonuria

Hyperactivity and distraction behavior are more common in most children with autism, and are often misdiagnosed as children with ADHD. In addition, temper, attack, self-injury and other behaviors are more common in autistic children. Such behavior may be related to parents. There is a certain relationship between the use of snoring or punishment in education. There are still mental disorders, epilepsy, tuberous sclerosis, phenylketonuria, fragile X syndrome, and Rett syndrome with autism.

Pediatric autism symptoms common symptoms anxiety social sensation disorder intelligent disorder space perception disorder stuttering antifeeding

Most of the children diagnosed with autism are not as severely damaged as they were reported earlier, but their symptoms are very broad, including emotion, cognition, socialization, communication, autonomic nervous function, integration function and adaptive behavior. In many ways, DSM-IV places special emphasis on the damage of its social and communication functions.

The severity of autism varies greatly. Kanner (1943) described autism in early childhood as a very serious case. Many psychological functions are impaired, but there are generally no delusions, hallucinations and associative astigmatism, so it is very Difficult to be linked to schizophrenia, light autism, its social function, communication function and behavioral abnormalities can be very light, difficult to diagnose as a disease, more like a personality problem.

Autistic patients are intimately intimate with others, usually indifferent to the warmth of human feelings, sympathy for the suffering of others, not sharing the joy of others, even if they are hit, they will not seek the sympathy of others. (For example, if a child falls and does not go to an adult to complain), his ability to understand verbal or nonverbal expression is poor. This is one of the reasons why he cannot understand other people's feelings. The child's own expression ability is also poor. Imitating words, using pronouns wrongly (referring to myself as "he"), or expressing a meaning in a vocabulary that only he understands, whether speech development is delayed or even not developed, in terms of speech, grammar, and semantics, semantic development Even worse, imagination and symbolic ability can also be significantly damaged, but ritual movements, stereotypes, self-seeking stimulation, self-disability, strange behaviors, etc. are common, sometimes for someone, something, a certain form of decoration has a special Attachment, no one is allowed to move, the emotional response of children with autism is generally superficial, but sometimes it can be overreacted, especially when moving things that he does not allow, the cognitive impairment of patients includes abstraction Force, the concept of convergence and integration capabilities of damage, can also have the sense of smell, taste, touch abnormalities, as well as visual, auditory processing capacity of hypoplasia.

Most patients have poor intelligence, but some of the children's abilities can be extraordinary (including music, painting, arithmetic, date calculation, etc.), speech expression and social skills are poor.

Autism usually has symptoms after birth or early infancy, but parents often can't find it in time and see a doctor. In general, the course of the disease develops in a better direction, but the speed of improvement is irregular, fast and slow. It is difficult to predict, and sometimes it can be exacerbated by external factors (such as suffering from other diseases) or temporary factors with unknown causes.

Timely education and training are important for improving their symptoms. Those with mild symptoms can be close to normal after such treatment. Some patients have some special abilities that are improved quickly, while others have little or no improvement.

After autistic children reach adulthood, their symptoms continue to improve slowly, but some residual symptoms can be found after careful examination. In general, about 2% to 15% of patients have familiarity and adaptation functions close to ordinary people, but some Some obsessive-compulsive symptoms, stereotyped movements, stuttering, etc. still continue to exist after adulthood. They are still more lonely than unwilling to be in contact with people. Speech comprehension and expression ability are often close to normal. Some adult patients can stand on their own, but they are generally not married.

Typical symptoms

(1) Obstacles to social interaction: Most children with autism show a lack of interest in people during their infancy, and they have no gaze to others, and their expressions are poor. When they are hugged, they have no corresponding postures and expressions that they are expected to be hugged, and even refused. Calling their names, often unresponsive, 6 to 7 months can not distinguish the relationship, can not establish a normal attachment relationship with parents, it is difficult to establish a normal partnership with children of the same age, do not like to play with their peers, no To watch the interest of the game or the desire to participate, there is no game method and rules. Even if you are forced to play with other children, you will not actively contact others and will not be fully engaged in group activities.

(2) Language communication barriers: the language development of patients is obviously behind that of children of the same age. Some children have gradually reduced or even completely lost their language function before the age of 2 to 3 years old. These early autistic children with language regression have relatively early language development. Good, but the language damage is heavier after the disease, suggesting that there may be special biological causes. The patient rarely or even does not use the language for normal interpersonal communication, often crying or screaming to indicate their discomfort or need, the body Languages such as nodding, shaking their heads, gestures, and facial expressions are significantly less likely than normal children of the same age. Sick children often do not actively talk to people, do not maintain or raise topics, or only repeatedly entangle the same topic, and respond to others. I don't care, they often don't use pronouns or misuse pronouns. Some children are self-speaking or jealous, have fun, speak strange words, monotonous language, lack of sway and feelings. In addition, there may be an imitation language or a stereotyped repetitive language, such as imitating what others have just said or a few words from television on a few days ago. Wait.

(3) Narrow interest and stereotyped behavior patterns: patients are not interested in activities, games, and toys that are of great interest to normal children, but prefer to play non-toy items such as very sharp objects, waste caps, broken wood Blocks, or observing fast-turning electric fans, etc., can often last for tens of minutes or even hours without boredom, and the strange play that these items have incomprehensible to normal people can be long-lasting, some children can not restrain Repeatedly touching each finger with your fingers or repeatedly sniffing every thing, or repeatedly clap your hands, chest, turn, use your tongue to smash walls, stomp, etc. They often stubbornly demand the living environment, and the daily activities are unchanged. If you have to eat the same food every day, use the same toilet, wear the same clothes for many years, take the same route when you go out, etc. If these activities are stopped or the behavior pattern is changed, the patient will express obvious discomfort and anxiety. And even there is resistance.

2. Intelligence and sensory impairment

About 50% of the intelligence of autistic children is moderately and severely low (IQ<49), about 25% is mildly low (IQ is 50-70), and 25% can remain normal. The characteristic mental damage mode, that is, the development of all aspects of intelligence is unbalanced, the operational IQ is relatively higher than the verbal IQ, and the results obtained by using mechanical memory and spatial visual ability are better, and the ability to grasp the meaning is completed. The results obtained from the title are relatively poor. Due to the compensatory effect, some patients have good mechanical memory and spatial visual ability. For example, some autistic patients have special functions in terms of music, calculation, date of estimation and recitation, so-called Idiot genius, the gap between their best and worst ability is very large, but the optimal ability of most patients is still lower than the corresponding level of children of the same age.

The patient's feelings of pain are slow, and sometimes they are very slow to very strong sound stimuli, but they are sensitive to certain sounds. Often they can't wait to plug their ears when they hear the sound. They are not willing to use their hands or feet. Touching sand, dirt or water, like to touch or rub a blanket with your hands, like to watch glowing or rotating objects, often use tongue to pick up certain items.

3. Non-specific symptoms

Most patients have attention deficit, hyperactivity disorder and developmental coordination disorder, about 20% of patients have tic symptoms, 12% to 20% of patients have seizures, mostly with large seizure types, and the incidence of low-intelligence patients is high, about 1/ 3 patients with EEG abnormalities, often seen in patients with autism accompanied by partial eclipse, refusal to eat, ruminant and food and other eating problems or sleep disorders, language skills are better, IQ is higher, older patients are often accompanied by forced Symptoms, self-injury, impulsivity, attack, destruction, violations, etc. are also common, but also fear, nervousness, and even panic attacks, a few sexual masturbation and hair pulling behavior.

Pediatric autism check

1. Genetics: The children with autism and language disorders in the family of autism are significantly more common than the normal population. The risk of autism among siblings is 50 times higher than that of the general population, suggesting that the onset of autism is genetically related.

2. Perinatal factors: The perinatal complications of children with autism, such as birth injury and intrauterine asphyxia, were significantly higher than the normal control group.

3. Imaging studies: Structural brain imaging techniques (CT and MRI) found that the total brain volume and left and right ventricular volume were significantly greater in the children with autism than in the control group, while the volume of the brainstem and the right anterior cingulate gyrus was significantly reduced.

4. Immunology research: Some children with autism have a decrease in the number of T lymphocytes, a decrease in the number of helper T cells and B cells, an induction of inhibition of T cell deficiency, and a decrease in the activity of natural killer cells, suggesting that autism is associated with abnormal immune system function. .

Diagnosis and diagnosis of autism in children

diagnosis

Diagnostic procedure

(1) Medical history: Detailed and comprehensive medical history includes various risk factors and complications during maternal and perinatal periods, developmental characteristics of infants and young children, and autism and cognitive impairment in parents and siblings.

(2) Mental examination: mainly relying on the direct observation method of interviews and behaviors, checking their intelligence level (especially non-verbal IQ), language acceptance and expression ability, adaptability and communication skills, and establishing emotional relationships with the surrounding people (mainly parents) The ability to look at the eye, and the behavioral characteristics of observation.

(3) Physical examination: Children often have physical development defects and some congenital developmental disorders, such as congenital, nodular sclerosis, phenylketonuria, etc., and more neurological soft signs.

(4) Laboratory and physical examination: genetic screening (chromosomal analysis and genetic counseling), psychological testing, electroencephalography, auditory measurement, head CT or MRI, evoked potentials, etc., based on medical history and neuropsychiatric examination to determine whether it is needed.

2. Scale

It is a useful diagnostic aid and is now available in three widely used scales.

(1) Autism behavior check list (ABC scale): This scale lists 57 autistic behaviors, including language, exercise, behavior, communication and perception. Grade 1 to 4, the total score is 158 points. The original author proposed a screening limit of 53 points, and the diagnosis was divided into 67 points. Yang Xiaoling et al. (1993) performed ABC volume on 60 autistic children in outpatient clinics. Table test, the study shows that the classification is divided into 31 points for screening, the sensitivity is 0.97 when the total score is 50 points, the sensitivity is 0.95 when the 62 points, that is, the screening rate is extremely low and the specificity is still 1 Can be used as a diagnostic reference.

(2) Childhood autism rating scale (CARS): CARS is used to assess preschool children. There are 15 subtests, and each subtest has a score of 1 (belonging to this age). Normal range) ~ 4 (serious abnormality).

(3) Autism Diagnostic Interview Scale (Revised Edition) (ADI-R): This scale includes three core diagnostic components: social interaction (16) qualitative defects, language and communication (13) Abnormalities, stereotypes, limitations, repetitive interests and behaviors (8 items), and judgment of the onset age (5 items) and non-diagnostic scores (8 items); there are 6 special abilities that involve children with autism Or talent (such as memory, music, painting, reading, etc.), generally rated 0 to 3 points and 4 levels, ADI-R is currently considered to be a diagnostic diagnostic tool with good diagnostic validity and high reliability, suitable for Clinical application.

3. Diagnostic criteria

According to the diagnostic criteria of CCMD-3, the disease usually begins within 3 years of age. In the following (1), (2), (3), at least 7 symptoms are met, of which at least 2 of (1) At least one of the symptoms in paragraphs (2) and (3) is consistent.

(1) There is qualitative damage in interpersonal communication:

1 Lack of interest in collective games, loneliness, can not resonate with the joy of the collective.

2 Lack of skills to communicate with others, can not establish partnerships with peers in a way that suits their intellectual age, such as pulling people, pushing people, and embracing as a way of interacting with peers.

3 Self-entertainment, lack of communication with the surrounding environment, lack of corresponding observations and due emotional reactions (including no response to the presence or absence of parents).

4 Do not properly use eye-to-eye gaze and communicate with others with facial expressions, gestures, and gestures.

5 will not play games that play sex games and imitate society (such as not playing family, etc.).

6 When you are unwell or unpleasant, you will not seek sympathy and comfort; you will not express concern and comfort for the discomfort or unhappiness of others.

(2) There is a qualitative damage to verbal communication, mainly due to the damage of language function:

1 Spoken language development is delayed or will not use language expression, and will not communicate with others by gestures, imitations, etc.

2 The ability to understand language is obviously impaired. I often don't understand instructions, I don't express my needs and pains, I rarely ask questions, and I don't respond to others' words.

3 Learning language is difficult, but often there is no meaning to imitate speech or reaction language, and apply pronoun confusion.

4 Frequently repeat words that are not related to the environment or whisper from time to time.

5 Children with verbal ability can't talk to people actively, maintain conversation difficulties, and deal with simplicity.

6 speech tone, accent, speed, rhythm and other aspects of anomalies, such as lack of speech, Yang, Deng, frustration, speech stereotypes.

(3) Narrow interest and activity stereotypes, repetition, adherence to the environment and lifestyle:

1 Interest limitations, often focus on one or more modes, such as rotating fans, fixed music, advertising words, weather forecasts, etc.

2 Excessive activities, pacing back and forth, running, turning, etc.

3 Refuse to change stereotypes of repeated movements or postures, otherwise there will be obvious irritability and uneasiness.

4 excessive attachment to certain smells, parts of items or toys, such as special smells, a piece of paper, smooth clothing, wheels of car toys, etc., and satisfied.

5 Forced to fix a special and useless routine or ritual movement or activity.

4. Diagnostic points

(1) usually start within 30 months.

(2) Obstacles to social interaction: At least 2 of the following:

1 Extremely lonely, obviously lack of social emotional reaction, can not produce normal emotional communication with parents or others.

2 You can't communicate with your eyes, expressions, gestures or gestures.

3 Cannot establish partnerships with other children.

4 Lack of interest in collective games, can not resonate with the joy of the collective.

5 When you encounter illness and frustration, you will not seek support and comfort. When others encounter setbacks, they will not give support or comfort.

(3) Speech disorder: At least the following 2 items:

1 speech development is delayed or not developed, for example, there is no linguistics, and there may be a tendency to use gestures or other forms to replace verbal communication.

2 Words that repeat no apparent connection to the environment or ongoing activities.

3 words of tone, speed, rhythm, accent and other aspects of the anomaly.

4 The ability to understand speech is clearly impaired.

Speech function is normal before the age of 52, but there are obstacles after 2 years of age, and even no speech at all.

(4) Interests and activities are abnormal: at least one of the following:

1 Interested in stereotypes, narrow (such as focus on advertising, dates, weather reports, etc.).

2 special attachment to something.

3 Force a special ritual act.

4 stereotypes of repeated movements and postures.

5 are particularly interested in non-primary parts of certain things (such as toys) (such as their odor, surface sensation, noise generated, etc.).

6 Reluctant or refuse to make any changes to the individual's living environment.

(5) Mental retardation: About 25% of the children's intelligence can be reduced to mild mental retardation, and another 50% of the children are middle and severely mentally retarded.

(6) Exclusion of mental retardation, ADHD in children, schizophrenia in children and infantile dementia.

Differential diagnosis

Mental retardation

The outstanding performance is that the intelligence is significantly lower than that of the same age children, accompanied by social adaptation defects, but no abnormal social relations, interpersonal communication, obvious narrow interest and stereotyped repetitive movements, etc., if the patient has mental retardation in addition to mental retardation The level of language development is not quite equal, and obvious social interaction problems should be diagnosed as autism with mental retardation. The difference between cognitive impairment and mental retardation in autism lies in the fact that all aspects of autism intelligence are not developed. Balance, mental retardation is the low overall development of intelligence, the scores of all subscales in the intelligence test are generally low, and the ABC scale can be used to identify the two diseases.

2. Schizophrenia

General preschool development is normal, the onset age is mostly after school age, mainly manifested as hallucinations, delusions and thoughts and other schizophrenia core symptoms, language and mental development are normal, antipsychotic drugs can significantly improve clinical symptoms, autism is from Before the onset of illness, it may also show developmental delay after birth. The main clinical manifestations of language, social interaction, and intelligence are the main clinical manifestations. The effect of drug treatment on these symptoms is not obvious.

3. Attention Deficit and Hyperactivity Disorder (ADHD)

There are too many activities, attention deficits, impulsive behaviors, and often learning difficulties and conduct disorders. Children with autism often have too many activities and distracted attention, but they are characterized by difficulties in social interaction.

4. Selective mutism

Sick children have obvious selectivity, refuse to speak in social situations, but can understand other people's words, often accompanied by social anxiety, withdrawal, sensitivity or resistance, while at home and family can talk properly, autistic children in all occasions The abnormal characteristics of language are obviously different from the selective mutism in behavioral form.

5. Receptive language developmental disorders

This is a specific developmental disorder. The child's understanding of language is lower than that of his or her mental age. The language expression of almost all sick children is impaired. Such children may have a certain age before they are 5 years old. Some autistic behaviors, such as social communication disorders, but lack the sensory impairment of children with autism or numbness. These speech disorders can use gestures and expressions to interact with people and have imaginative game activities. The ability of autistic children is lacking, and neurophysiological quantitative determination of high-function autism can be used to identify the disease.

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