Psychology is the study of behavior and cognitive mental processes, and counseling aims to increase adaptation and reduce personal anxiety and stress.
In the field of autism, a psychologist uses psychometric knowledge to assess the child's cognitive behavior. Using behavior therapy techniques, he records abnormal behaviors and corrects them.
Assessing the complementary developmental process in autistic children using norm growth charts and developing educational programs Examining cognitive developmental prerequisites can be one of the most important interventions for autistic children.
Since autism parents are more exposed to interpersonal problems, family conflicts, etc. than other parents.
Counseling can lead to more acceptance of existing conditions and increase the potential of parents to use the maximum power for the fruitful growth of their child and increase the level of peace and satisfaction of the family.
Golden keys for parents of children with autism spectrum disorder:
* Strengthen and increase internal motivation
If you want to be a good companion in order to improve your child, pay more attention to the positive points than the negative points. By doing this, you strengthen your inner motivation. Many parents do not pay any attention to their child when he or she has a new movement or learning, if they only pay attention to the negative aspects of their child's behavior. It is unfortunate that sometimes parents say that their child does not make any positive moves. Is such a thing really possible?
Isn't this a sign of maximum pessimism? If you have such an impression of your child that he is not going through any recovery process, you are probably too pessimistic.
* No comparison
One of the heavy losses of families on their children is comparing their child with other children who have this disorder, as well as comparing their child with other children who are close to them. Dear parents of children with autism should always keep in mind that comparison is not a good way to motivate internally.
No restrictions on family and friends
Many parents of children with autism limit their social interactions with friends and relatives to the point of hiding their child's disorder as well as their child's imperfections, to the extent that they deprive themselves of the great blessings of communication and the resulting energy. They deprive. While all parents should always remember that these children need love and affection like other children, and the parent can give this affection to his child if it is full of energy. One way to increase morale and energy is to connect with friends and relatives. Therefore, parents of autistic children should be mindful and try to eat from sources that provide them with high energy and morale. One of these sources is traveling with friends and relatives, which makes them feel that the world is not over despite having an autistic child, and that there are people with whom one can share one's problems. Be spiritually supported by them. These trips can relieve him of many boredom, depression and sorrows.
* Have strong social connections
Caring for children with any type of chronic illness is very difficult and causes many emotional problems for parents. Caring for children with autism is very stressful and difficult due to the lack of social communication required and the difficulty of communicating between the child and parents. Given the quality of services available in your area, make sure your child receives the support and care they need, and you should be aware of the quality of these services to reduce your stress; That's why you need strong social support for yourself and your child. Supports that can help you with this include:
Emotional support: A close friend or family member you trust and can share your feelings and needs with can be supportive.
• Social support: Your friend or co-worker you enjoy being with and can trust and help you in times of frustration.
Information sponsors: Your child's doctor, counselor, teachers, therapists, or caregivers, with whom you can consult for important advice and decisions about your treatment.
• Support when you have a problem: A neighbor or friend you can ask for help when you have a problem.
Other support includes support you can get from other parents with children with autism: In these cases, you can use the experiences of others with autism and ways to adapt to the disease. If there are associations for these diseases, connecting with others and using their experiences can help you. The more you know about autism and the more social support you receive, the more confident and confident you will be in fighting it, and the less stress you will have.
Inform your family about autism.
Many mothers of children with autism may be isolated. Many mothers are separated from their families when their child is diagnosed with autism, do not attend family celebrations and parties, and feel ashamed to ask for help in caring for their child. Many parents and other family members experience stress, loneliness, lack of support, and sometimes even anger in the face of these children's problems. You need to know that these feelings are normal and you can help other family members with autism and the special needs of children with the disorder to help them deal with these feelings. Increasing the knowledge of other family members about autism and how it is managed in the family can reduce stress and strain on the family and improve the performance of a child with autism.
* Positive thoughts
Most parents have a child with autism when they notice their child has the disorder. They cultivate negative thoughts about their child's future and how their child will cope with his or her own problems and issues, while such parents should be drawn to the fact that we have no information about the future and about what We do not know about it, we should not be upset and sad. Parents of autistic children should know that positive thoughts add to the richness of life and allow the parent to feel more empowered and confident, while negative thoughts can negatively affect the parent-child relationship. And convert the heat of the house into cold. So the parents of such children should create positive thoughts and feelings in themselves and get rid of negative feelings.
Unfortunately, many parents with autistic children do not pay attention to their psychological readiness and motivation issues, and this causes them to suffer in this area. Assessing mental fitness by the parents themselves is more important than they think. One of these assessments is the assessment of intrinsic motivation in the individual.
Negative parents are somewhat pessimistic about their child's recovery and are always looking to gather information and evidence and reasons for their child's new learning failure. What is really the reason for you to look for evidence like a detective and finally prove to yourself that your child has not made any progress?
Negative thoughts deprive you of power, so that you feel weak and lose confidence. Whenever you think of something negative, you lose your strength and you feel angry, you feel sad and miserable, and over time, negative thoughts can make you physically ill. So if you want to have a normal life, your goal should be to cultivate positive thoughts in yourself and you should always remember that your mind can only think of one thought at a time. Positive or negative. You can replace negative thoughts with positive ones whenever you want.
* Behavior therapy
Behavioral education teaches children with autism at any age how to communicate well with the community. This type of training can reduce behavioral problems and improve coping skills. In this method, positive encouragement and reinforcement is used to improve behavioral problems and establish proper communication with the world around. Also, according to the special needs of each child, special programs are considered specifically for him. Continued use of these behavioral interventions will bring the best results for a child with autism. The child's behaviors, surroundings, and environment should be thoroughly examined before treatment. Parents, other family members, teachers and caregivers of children with autism should be fully trained in this educational method.
Read about diet
Some experts believe that dietary changes that cause food allergies can increase the symptoms of autism. Deficiency of certain vitamins or minerals may cause some symptoms of autism. If you are on a special diet for a certain period of time, you need to talk to a pediatrician and a nutritionist. The nutritional status of the child should be assessed and measured carefully.
Make a plan for your rest
Many parents of children with autism experience fatigue, depression, and despair after struggling with the condition for some time. Plans such as having a family picnic or a short trip with friends and other friendly appointments can be very effective in rejuvenating you. In cases where parents feel frustrated and inadequate, using the advice of a counselor can be very helpful and reassuring. Also, regular exercise and a healthy diet can help increase your strength and ability to cope with the current situation. Asking your spouse or other family member for help in a crisis can increase your strength and power. Planning to spend a day without a child with autism can increase your concentration and improve your mood so that you can better deal with your child in the future.
How to teach emotions to children with autism?
Teaching emotions to children with autism is difficult given their level, because conceptual emotion is completely abstract.
It is difficult to describe feeling sad, scared or excited.
Because their emotions influence each choice, it is important to educate children about their feelings as soon as possible.
Children who understand their feelings do not use anger, aggression, or defiance to express their feelings.
A child who can say, "I'm angry with you" is less likely to hit the other person.
And a child who can say, "These feelings bother me" is better equipped to resolve the conflict peacefully.
Teaching your child emotions also helps you to be mentally strong.
Children who understand their emotions and have the skills to cope with them can ensure that they can cope with life, and on the other hand, it is very important to strengthen and understand social skills.
1.Introduce and teach their feelings
Teach your child basic emotional words such as joy, anger, sadness and fear.
A great way to help children learn emotions is to discuss the feelings of different characters in books or TV shows, face cards.
Ask him, "How does he feel?"
2. Talking about the feelings of others also teaches empathy.
If your child knows that pushing his friend to the ground may make him angry and sad, he is less likely to push him.
Show children how to use emotional words in their daily vocabulary.
Demonstrate how you express your feelings using opportunities to share your feelings.
Say, “I'm sorry you do not want to share your toys with your sister today. I bet he's upset. ”
Ask your child every day, "How do you feel today?" In young children, use a simple emoji with laughter or sadness and other moods.
3- Being positive
Reinforce good behavior with a positive attitude. Express your feelings to your child in an appropriate way by saying things like:
"I really liked the model you told your sister you were angry with."
Another great way to boost healthy habits is to use a reward system.
For example, a reward system can help a child use and reinforce healthy coping strategies instead of aggression when they are angry.
4. The importance of parents being role models for healthy behaviors
If you tell your child to express his or her feelings in words when he or she is angry, but he or she sees you throw up the phone after an unpleasant phone call, your teachings will not be effective. Practice healthy ways to deal with unpleasant emotions.
Point to times when you feel angry or frustrated and say them out loud. "Wow, I'm nervous that this car will not pull away from me."
Then take a deep breath or use another healthy coping skill as your child learns and recognizes the skills you use when angry.
Genetic counseling in autism spectrum disorder
Although environmental factors such as infections or the use of certain medications during pregnancy play a role in causing the disorder, heredity plays a role in the development of this disease in estimates between 50 and 90%, indicating that genetic factors play an important role in the disease. They have a range of autism spectrum disorders. Understanding the genetic characteristics of a disease provides valuable information about the risk of recurrence, predicting disease progression, and possible therapeutic interventions. Thus, many efforts over the past decades to better understand the genetic factors associated with autism have led to better diagnosis and, consequently, better genetic counseling for the disease. In this article, we discuss the current approach to the genetic structure of autism as well as reference to guidelines for molecular screening and genetic counseling for autism patients.
The genetic structure of autism
The first thing we need to know about the genetic counseling of autism is that we know the logical and precise structure of the disorder. Autism is a complex and genetically heterogeneous disease. Becomes. At present, in order to understand the genetic structure of autism, it is important to consider the epidemiological and developmental aspects, as well as the overall understanding of the molecular changes associated with the disease. First, we must consider an early evolutionary law that affects the abundance of genetic variants in the population
If a particular genetic variant has a detrimental effect on the organism and has a negative effect on the existing adaptation (ie, the chance of reproduction), this variant tends to be less abundant in the population and therefore less common over many generations. In fact, this is what is observed for most single-gene diseases: These disorders are rare in the population because the frequency of their alleles is low in the population. Assuming that a disease reduces compromise and is common in the population, it is likely that the disease was not caused by an allele that has a severe destructive effect. Instead, genetically based diseases are thought to be the most common diseases with a multigene or hereditary inherited model (genes with environmental factors):
These are inherited through a combination of genetic variants, each of which has little effect on the disease. Since the phenotypic effects of each of the variants are small, if a person has a limited number of them, he will not get sick and these variants will be passed on through the generations, so they are abundant in the population. . As a result, it is not uncommon for a person to inherit a sufficient number of these low-risk variants that the overall risk is sufficient to cause the disease.
Based on these concepts, the pattern of multigene or multifactorial inheritance can be defined in most cases of autism. Over the past few years, a large number of people with autism have been identified as having these rare mutations that have destructive effects on neurodevelopment and can be thought of as responsible for causing the disease. However, in some families there are the same harmful variants and it is spreading among sick people. At the same time, in some healthy people, these variants are also observed in this family, which is similar to the single inheritance pattern. A gene with reduced permeability. Therefore, the inherited patterns of autism have been reviewed and now the interaction between common and rare variants is used to explain the genetic structure of this disease. Keep in mind the scenario, in this scenario:
• In some cases, the disease is caused by a large number of common low-risk variants that together can increase the risk of disease onset.
• In other cases, people develop the disease due to inheriting a moderate number of common low-risk variants along with a rare variant with moderate risk.
There are also cases in which patients have inherited a small number of common, low-risk variants, along with a limited number of moderate-risk variants, and become ill.
In all of these cases, the recurrence of autism in the family is higher than the general population, because in these families the alleles at risk of disease are differentiated among individuals. Finally, autism can be caused by harmful and really rare single mutations. These high-risk mutations are often associated with a high incidence of the disease, and these mutations are often recurrent in the patient. In this case, the risk of recurrence in the family can be within the normal society (except in cases of mutations in the reproductive line). Although common variants may have a higher risk of autism in the population, they are difficult to identify because they have mild effects and often remain unknown. Therefore, most of our knowledge about genes involved in autism is from the study of known variants with moderate to severe risk. It is estimated that variants in more than 400 genes and several copier counting (CNV) variants (duplication and deletion events) may be among the moderate to severe risk variants of the disease.
Low-risk and high-risk variants may play a role in the etiology of autism, a variant that has a high risk of developing the disease. In such cases, the variant is usually created as a new mutation, the parents do not have such a variant, in which case a single-gene inheritance pattern is observed. In the second situation, an oligogenic inheritance pattern is observed in which parents can have moderate-risk variants that are inherited by the child and cause disease. A multigene or multifactorial inheritance pattern can be created by inheriting a moderate number of low-risk variants, along with a medium-risk variant or a high number of low-risk variants.
Molecular testing and genetic counseling for autism
Autism Genetic Counseling About Autism Includes:
Explain the genetic characteristics of this disease to parents
• Clinical examinations of the patient and evaluation of family history,
• Discuss existing testing methods,
• Interpretation of results,
• Provide information on medical treatments and disease prognosis
• Report the risk of recurrence to the parents and ultimately to the patient.
Here each of these steps is briefly described.
It must first be made clear to the family that autism is a complex genetic heterogeneous disease that makes autistic genetic counseling challenging. According to current knowledge, a genetic variant can only be the main cause of autism if it is associated with a high risk of developing the disease, while a common group of variants have a low risk of developing the disease, therefore in polygenic forms. Or multifactorial autism and many of which have not yet been identified. Therefore, parents should be aware that molecular tests can only make accurate diagnoses in a small number of patients.
For many cases of autism, there are no clinical signs that indicate a specific genetic change. However, autism can be part of the symptoms of some monogenic and metabolic diseases (Table 1). Therefore, careful clinical examination of patients as well as careful family history is necessary because it can give a better view of the inheritance pattern of the disease. This can improve diagnosis as well as select more appropriate molecular tests for each patient (Figure 2).
Since it is estimated that approximately 10% of all autistic patients have clinically significant CNVs, as a general rule it is now recommended that all autistic patients should be screened for chromosomal microarrays for CNVs. To be placed. In particular, patients with microcephaly or macrocephaly who have epilepsy, malformations, congenital anomalies, or a family history of other mental disorders and neurodevelopment have higher rates of clinically significant CNVs. The most common CNVs seen in autistic patients are located on chromosomal sections 15q11-13, 16p11 and 22q11-13, which together account for 3 to 5% of the disease. Because karyotypes are less accurate than chromosomal microarray analyzes, today this cytogenetic test is only used when we suspect aneuploidy or a positive history of recurrent miscarriages suggests chromosomal rearrangements.
The first important step in genetic counseling is the clinical examination of the patient and the evaluation of family history. These can provide valuable information to select better molecular tests. As a general rule of thumb, chromosomal microscopy, screening for fragile X for men, screening for MECP2 mutations in women, and screening for congenital malformations should be performed for all patients with autism (red). Certain cases may cause only one of these methods to be selected. As secondary diagnostic methods, exome or genome sequences can be considered (yellow). Specific clinical signs, inherited patterns, or a positive family history of recurrent miscarriages may be good indications for certain genetic changes that should be examined by more specialized molecular or karyotype methods.
Among the single-gene syndromes in which autism is a part, three of them need more attention. Due to the high prevalence of Fragile X Syndrome among people with autism, molecular studies of this syndrome should be performed for all male patients, even if there is no specific clinical feature of this syndrome.
Screening of female patients for this syndrome is recommended only if there is an unexplained mental disability with an X-linked inheritance pattern, a positive family history of fragile IQ syndrome, or ovarian failure disorder. It is recommended that all women with autism with mental disabilities be screened for MECP2 mutations that cause rat syndrome, as it is estimated that 4% of female patients with autism with severe mental retardation have harmful mutations in this, they have genes. Finally, patients with autism associated with macrocephaly (head circumference above 2.5 deviations from the mean) should have mutations in the PTEN gene associated with Hamartoma tumor syndrome - a disease that causes macrocephaly or macrosomia - also increases the risk of tumors in the body. It can be examined, especially since there is a possibility of cancer in patients with this disease.
Autism can also be associated with metabolic disorders, but in a small percentage of these patients. Despite the fact that metabolic disorders often have an autosomal recessive inheritance pattern (so they often occur in consanguineous marriages) and have well-defined clinical features such as epilepsy, neurological disorders, and other psychological abnormalities, it is nevertheless recommended in all patients. Autism screening for congenital metabolic errors.
Recently, exome and genome sequencing has become affordable and its use in clinical trials is expanding. In fact, it has been estimated that pathogenic single-nucleotide variants are found in approximately 8 to 20% of autistic patients. These mutations are found especially in patients with moderate to severe IQs compared with patients with normal IQs. It should be noted that mutations obtained in exome sequencing studies, especially the genome, are difficult to interpret, except in cases where the variants are produced as loss-of-function mutations in specific genes of the disease. On the other hand, it is expected that sequencing data from large cohort studies of autistic patients performed by large consortia could facilitate the interpretation of some of these mutations in the near future. Therefore, next-generation sequencing technologies are still considered as the first front of diagnostic tools. However, new analytical perspectives that are being developed can reduce the price and increase our knowledge, and these methods will probably be used in the future. Become the gold standard for molecular studies of autism.
Unfortunately, for most cases of autism, there is currently no prognosis or medical treatment based on genetic modification. Of course, there are a few exceptions, for example, disorders or monogenic syndromes associated with tumorigenesis and the associated diagnosis of autism, neurofibromatosis type I, and tuberous sclerosis syndrome. These examples show the importance of correct diagnosis because they can help you choose the right treatment as well as prevent other health problems.
Although microarray studies of chromosomes as well as next-generation sequencing technologies that screen high-efficiency genomes have made great strides in diagnosing autism, variants that cause disease can be found in only 25% of patients. Are diagnoses.
Attention to clinical phenotype and family history along with biochemical and molecular studies for metabolic and single-gene disorders associated with autism can be determined in 30 to 40% of cases. In such cases, the re-risk rate can be calculated more accurately. It should be noted that many of the well-known variants associated with autism are associated with a predisposition to other psychological phenotypes or incomplete penetration, making it difficult to obtain a reliable recurrence risk rate. In cases of autism for unknown reasons, the risk of recurrence rate is based on empirical observations:
For a couple with a sick child, the rate for other children is between 3 and 10 percent. If the current sick child is a girl, the rate is about 7%, or if the current sick child is a boy, the recurrence rate for future children is about 4%. Be. However, having two or more sick children increases the risk of recurrence by 33 to 50 percent.
In very large studies, this difference in recurrence in subsequent children due to the disease of the current child is expressed as follows:
A study of 3166542 people showed that the rate of this disease is 1.96% among boys and 0.50% among girls.
• If the current child with autism is a boy:
This disease is observed in the next childbearing rate of 4.2%
The disease is 12.9% among the next sons
• If the current child with autism is a girl:
The disease is seen in 7.6% of the next female children
This disease is observed in 16.7% of the next sons
To clarify the concept, a simple explanation is given: girls are less likely to develop autism, so they must have more predisposing genes or a greater susceptibility to the disease than a boy, so if a girl has autism, it means There are more predisposing genes in this family, so the risk is higher for the next offspring, and because boys are more likely to get the disorder, and there are fewer predisposing genes than girls or less susceptible to the disease. If a girl is a boy, then if the next child is a boy, as expected, she is more likely to get sick, and if she is a girl, she is less likely to get sick, as the results of a study among almost 3 million children confirm this claim.
Despite all the current advances, there are still a small number of families who seek genetic counseling for autism. Genetic counseling for autism can be extremely useful for these families because it can provide accurate information that can influence their future reproductive decisions, and in some patients can even lead to the choice of the right medical path. Finding a biological explanation for the disease can also create a sense of sincere effort to help treat the sick child, which in itself can be a relief to the parents.
