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Immunological aspects of autism: Review (scielo.org)
autism.pdf (galenusrevista.com)
Neurobiology, neuroscience and immunology in the autism spectrum (redalyc.org)
Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder that affects the way a person communicates, interacts socially, and behaves. It is characterized by repetitive patterns of behavior, restricted interests, and difficulties in verbal and non-verbal communication. It is a spectrum disorder, meaning it manifests differently in each individual and can vary in severity. Some people with autism have significant difficulties in their daily lives, while others can lead more independent lives.
Signs of ASD typically appear in childhood, and early diagnosis is crucial to providing appropriate interventions and support. Although the exact cause of this disorder is not yet fully understood, it is believed to be the result of a combination of genetic and environmental factors. There is no cure for autism, but therapies and specialized support can help people with ASD develop skills and improve their quality of life.
People with ASD may experience sensory sensitivities, meaning they may be hyper- or hypo-reactive to stimuli such as lights, sounds, textures, or tastes. This can affect your ability to participate in everyday and social activities.
Additionally, difficulties in communication and social interaction can lead to discomfort in social situations and misunderstandings in interactions with others.
It is important to note that each ASD person is unique, with their own strengths and challenges. Autism awareness and understanding are critical to fostering the inclusion and acceptance of people with ASD in society. Through education, awareness and appropriate support, it is possible for people with ASD to reach their full potential and contribute meaningfully to society.
Autism has gained increased attention in recent decades due to its increasing prevalence. According to the US Centers for Disease Control and Prevention (CDC), it is estimated that approximately 1 in 54 children has autism spectrum disorder (ASD). This figure represents a significant increase compared to previous estimates and suggests that autism is more common than previously thought.
The epidemiology of autism also shows differences in prevalence between genders, with a much higher proportion of boys diagnosed with autism compared to girls. Studies have shown that the ratio of boys to girls with ASD is around 4:1, raising important questions about gender differences in the presentation and diagnosis of this disease.
Furthermore, the epidemiology of autism suggests that prevalence varies significantly among different ethnic and socioeconomic groups. It has been noted that diagnosis rates tend to be higher in communities with higher income and access to medical resources, raising concerns about potential disparities in access to autism diagnosis and treatment.
Environmental and genetic factors also play an important role in the epidemiology of ASD. Certain genetic factors have been shown to increase the risk of ASD, and potential environmental factors, such as exposure to certain chemicals, have been identified that could contribute to the development of the disorder in genetically susceptible individuals.
Understanding the epidemiology of autism is crucial for planning health and educational services, as well as for research into underlying causes and effective interventions. As awareness and knowledge about this disorder continues to grow, it is essential to address the needs of people with autism and their families, as well as promote inclusion and acceptance in society.
The epidemiology of ASD reveals a high prevalence of this neurodevelopmental disorder, with significant differences in the proportion between genders, as well as disparities in prevalence between different ethnic and socioeconomic groups. Understanding these epidemiological patterns is essential to address the needs of people with ASD and to promote greater awareness and acceptance in society.
The genetic and neurobiological basis of ASD has been extensively investigated, and in recent years there has been growing interest in the possible immunological aspects related to this disorder. Current findings on immunological aspects in autism include evidence of immunological dysfunctions in individuals with autism, possible underlying mechanisms, and the role of inflammation and the immune response in the development and progression of the disease.
Evidence of immune dysfunctions in individuals with ASD comes from a variety of clinical and experimental studies. Children with ASD have been found to have a higher incidence of autoimmune diseases, allergies, and inflammatory disorders compared to the general population.
Furthermore, levels of certain proinflammatory cytokines have been found to be increased in the serum and cerebrospinal fluid of individuals with autism, suggesting abnormal activation of the immune system. These findings have led to the hypothesis that immune dysfunction may play a role in the etiology and symptomatology of this disease.
In terms of possible underlying mechanisms, it has been postulated that abnormal immune activation may affect brain development during gestation and early childhood, which in turn could contribute to the development of ASD. Maternal exposure to infections during pregnancy has been found to be associated with an increased risk of ASD in offspring, supporting the idea that immune activation during fetal development may be a risk factor for autism. Furthermore, it has been proposed that chronic inflammation and immune activation in the brain could contribute to autism symptomatology, including altered neuronal connectivity and brain function.
Regarding the role of inflammation and the immune response in the development and progression of ASD, it has been shown that chronic inflammation can negatively affect brain development and synaptic plasticity, which could contribute to difficulties in communication and social interaction. observed in autism. Furthermore, it has been suggested that abnormal immune activation could contribute to the emergence of psychiatric and behavioral comorbidities in individuals with ASD, such as anxiety and depression. Therefore, understanding the underlying mechanisms of immune dysfunction in this disorder could have important implications for the development of new therapeutic strategies.
Immunological aspects in ASD are an emerging area of research that raises important questions about the interaction between the immune system and the nervous system in the development and symptomatology of ASD. Although there are still many unanswered questions, current evidence suggests that immune dysfunction may play a role in ASD, and that understanding these immunological aspects could have important implications for the diagnosis and treatment of autism in the future.
The heritability of ASD has been estimated at around 80%, meaning that most cases of the disease have a genetic basis. This has been shown through twin studies, which have found significantly higher concordance for ASD in identical twins compared to non-identical twins. Additionally, family studies have shown that relatives of people with autism have a higher risk of developing the disorder compared to the general population.
Over the years, several genes have been identified that are associated with autism.
Some of these genes are involved in brain development and communication between nerve cells, while others are related to the regulation of the immune system. One of the first genes to be associated with ASD was the tuberous sclerosis-related protein gene (TSC1 and TSC2), which is involved in brain development and the formation of benign tumors in brain tissue.
In addition, mutations have been identified in several genes related to communication between nerve cells, such as the SHANK3 gene, which encodes a protein that plays a role in synapse formation, and the NRXN1 gene, which is involved in adhesion between nerve cells. nerve cells. These mutations can affect brain function and contribute to the development of ASD.
Another group of genes related to autism is involved in the regulation of the immune system, such as the C4 gene, which encodes a protein involved in eliminating pathogens and regulating the immune response. Mutations in this gene have been shown to be associated with an increased risk of ASD, suggesting that the interaction between the immune system and brain development may play a role in the disorder.
In addition to individual genes, common genetic variants have also been shown to contribute to autism risk. Genome-wide association studies have identified several genetic loci that are associated with autism, including regions on chromosomes 2, 5, 6, 7, 15, and 16. These common genetic variants may affect brain function and contribute to the development of autism. .
The interaction between genetics and the immune system in autism is an evolving area of research that has the potential to open new avenues for the diagnosis and treatment of this complex condition.
Several studies have found evidence of abnormal immune activation in individuals with autism, including elevated levels of proinflammatory cytokines, antibodies against brain tissue, and activation of immune cells in the brain.
The relationship between genetics and immunity is complex and multifaceted. Several genes related to the immune system have been shown to be associated with autism. For example, genetic variants in genes encoding cytokines, T cell receptors, and histocompatibility molecules (HLA) have been implicated in susceptibility to autism. These genes play a crucial role in regulating the immune response and inflammation, suggesting that immune dysfunction may be related to the pathophysiology of autism.
The interaction between genetics and the immune system in autism is an area of active research. It has been proposed that immune dysfunction may be mediated by genetic factors, leading to an abnormal immune response in susceptible individuals. For example, genetic variants in genes related to the immune response can modulate the activation of immune cells and the release of cytokines, which in turn can affect brain function and contribute to the development of autism.
Understanding the immunogenetic relationship in autism has important clinical and therapeutic implications. On the one hand, the identification of genetic variants associated with immune dysfunction in autism could provide useful biomarkers for the diagnosis and prognosis of the disease. Furthermore, understanding the molecular mechanisms underlying the genetic-immunological interaction could lead to the development of new therapies aimed at modulating the immune response in individuals with autism.
The relationship between genetics and the immune system in autism is an evolving area of research that has the potential to provide valuable insights into the pathophysiology of this complex condition. Several immune-related genes have been shown to be associated with autism, and evidence of abnormal immune activation has been observed in individuals with autism. Understanding the genetic-immunological interaction in autism is crucial to develop new diagnostic and therapeutic strategies that can improve the quality of life of people affected by this disease.
Metabolic factors in autism are an evolving area of research that has attracted significant interest in recent years. It has been observed that several metabolic aspects, such as amino acid, lipid, glucose metabolism, and mitochondrial function, may be involved in the development and pathophysiology of autism.
Amino acid metabolism is an area of interest in autism research, as it has been observed that several amino acids, including serine, methionine, glutamate and gamma-aminobutyric acid (GABA), may be involved in the pathophysiology of autism. autism. For example, serum and brain levels of serine and methionine have been shown to be altered in individuals with autism, suggesting that the serine pathway may be involved in the disease. Additionally, levels of glutamate and GABA, two key neurotransmitters in the brain, have been observed to be dysregulated in autism, which may affect brain function and contribute to symptoms of the disease.
Lipids are essential components of cell membranes and play a crucial role in the development and function of the nervous system. Several studies have suggested that lipid metabolism may be altered in autism, including changes in levels of polyunsaturated fatty acids, phospholipids, and cholesterol. For example, levels of polyunsaturated fatty acids, such as arachidonic acid and docosahexaenoic acid, have been found to be dysregulated in individuals with autism, which may affect neuronal function and synaptic plasticity. Furthermore, it has been suggested that cell membrane dysfunction, caused by alterations in phospholipids and cholesterol, may be involved in the pathophysiology of autism.
Glucose is the main source of energy for the brain, and it has been observed that glucose metabolism may be altered in autism. Several studies have suggested that glucose regulation in the brain may be dysregulated in individuals with autism, which may affect brain function and neurodevelopment. Furthermore, it has been observed that insulin levels and insulin sensitivity may be altered in autism, suggesting that the insulin pathway may be involved in the disease.
Mitochondria are the cellular organelles responsible for producing energy in the form of adenosine triphosphate (ATP) through cellular respiration. It has been observed that mitochondrial function may be altered in autism, which may affect energy production in the brain and contribute to the symptoms of the disease. Several studies have suggested that mitochondrial dysfunction, including changes in the activity of respiratory chain complexes and the production of reactive oxygen species, may be involved in the pathophysiology of autism.
It is important to highlight that the different metabolic aspects discussed above do not act independently, but are interconnected and can influence each other. For example, it has been suggested that mitochondrial dysfunction may affect amino acid and lipid metabolism, which in turn may affect brain function and contribute to the symptoms of autism. Furthermore, it has been observed that glucose and insulin regulation may be related to amino acid and lipid metabolism, suggesting that the interaction between these metabolic factors may be involved in the pathophysiology of autism.
Understanding metabolic factors in autism has important clinical and therapeutic implications. On the one hand, the identification of metabolic biomarkers associated with autism could provide useful tools for the diagnosis and prognosis of the disease. Furthermore, understanding the molecular mechanisms underlying metabolic factors in autism could lead to the development of new therapies aimed at modulating amino acid, lipid, glucose metabolism and mitochondrial function in individuals with autism.
Metabolic factors in autism are an evolving area of research that has the potential to provide valuable insights into the pathophysiology of this complex condition.
It has been observed that the metabolism of amino acids, lipids, glucose and mitochondrial function may be altered in autism, suggesting that these metabolic factors may contribute to the development and symptoms of the disease. Understanding the molecular mechanisms underlying metabolic factors in autism is crucial to develop new diagnostic and therapeutic strategies that can improve the quality of life of people affected by this disease.
Diagnostic testing for autism is critical to identifying and evaluating the condition in individuals. Below are some of the most common tests used in the diagnosis of ASD:
Importantly, the diagnosis of autism is typically based on a comprehensive assessment that includes gathering information from multiple sources, such as parents, caregivers, teachers, and health care professionals. Furthermore, it is essential that the diagnosis be made by professionals specialized in autism spectrum disorder, such as psychologists, psychiatrists, neurologists or pediatricians specialized in child development.
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