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Applied Behavior Analysis
Changing behavior, one positive reinforcement at a time, aid and the power of Applied Behavior Analysis.
Occupational Therapy
With our occupational treatment, we help your tiny minds experience their childhood to the utmost.
Speech Therapy
With our speech therapy, we can help your tiny ones to find their true potential and true voice.
Oral Placement Therapy
The primary objectives of OPT are to strengthen the oral motor muscles for better clarity.
Shadow Teacher
Shadow teacher is an educational assistant that is applied in very special circumstances.
Psychological Assessments
A psychological assessment is a methodical process that includes questionnaires and interviews.
Adolescents Therapy
Adolescence is a period of significant physical, emotional, and social changes and it's not uncommon for teens.
QABA
QABA is to empower behavioral interventionists and set an optimal level of care for all professionals to individuals with ASD.
Tacting Kit
This verbal operant pack is perfect for VB-MAPP testing and programming!
Medically Reviewed By Sonam Kothari, Written By Tejasvi Parekh
Pathophysiology is the science that helps us understand how a disease, an injury or a condition leads to changes in the body's functioning. It involves delving into the biological mechanisms and the interconnected systems that have led to the disease, injury or condition.
Simply, it means looking at what happens inside the body that causes the symptoms of a disorder, injury or condition. For autism, this means studying how genetic, environmental, and neurological factors interact to produce the symptoms associated with the condition.
In the context of autism, physiopathology examines how autism changes the brain and body. Autism spectrum disorder (ASD) affects how the brain develops and works, which can lead to differences in behaviour, communication, and social interactions.
Although the etiology (set of causes) of autism is not completely understood, it is believed that abnormal brain development from birth is a contributory cause.
Pathophysiology of autism describes the abnormal physiological processes in the body that lead to autism spectrum disorder (ASD). Just like the human body normally functions through a well-coordinated system, any disruption in this system can cause other parts to malfunction.
In ASD, these disruptions seem to occur in the nervous system. This affects how the brain and body communicate and thereby function. By studying these changes, scientists hope to understand ASD better and find ways to help people with ASD.
The pathophysiology of autism has been broken down for simple understanding below. Since various factors are known to contribute to this condition, key areas such as genetics, neurological factors, and environmental factors have been considered.
Genetics play a significant role, with conditions like tuberous sclerosis, fragile X syndrome, and Rett syndrome often linked to ASD. Genetic factors contribute upto 40 to 80 per cent of the risk for autism spectrum disorder.
Approximately 2 to 14 per cent of siblings of children diagnosed with autism also have the disorder, while around 20 per cent exhibit some symptoms of ASD.
Autism spectrum disorder (AS) is strongly genetic. Research estimates that if one already has a child with ASD, then there is a higher chance of giving birth to another child who has ASD. ASD is characterised by a wide range of symptoms, however, individuals with similar genetic backgrounds such as offspring and siblings, tend to show consistent traits.
Twin and sibling studies reveal that autism may have a strong heritable component. Folstein and Rutter (1977) conducted a study where they found that monozygotic twins were more likely to share the diagnosis of autism spectrum disorder than dizygotic twins. This
While researchers are sure that autism has a genetic component, progress is still being made to understand which specific genes are involved with this disorder.
Studies show that different genes are involved with autism and therefore people can develop this disorder in different ways. Some of these are also related to other conditions like ADHD, schizophrenia, bipolar disorder and depression.
While much of the risk for autism is inherited from one’s parents, de novo also contributes to a significant portion of the risk. De novo refers to a genetic mutation that occurs in the egg or sperm but is not present in the parents' DNA. These new gene mutations, which are not inherited, are involved in the formation and maintenance of synapses in the brain.
The synapses are an important part of the body’s communication system, as they facilitate interaction between two brain cells.
Research on autism in the early days used to believe that it was a condition passed down by the mother. However, contemporary studies claim that the genes associated with autism might be largely inherited by the father.
About 25% of cases of ASD are due to genetic factors, environmental impacts, and epigenetic modifications. The possibility of a connection between autism and mitochondrial malfunction, which impacts the cellular synthesis of energy, is also being researched. To properly comprehend these intricate relationships, more research is required.
Brain connectivity—how different parts of the brain are connected, communicate and interact with one another, is found to work in unusual ways in individuals with ASD. The extent of these differences in brain connectivity is said to reflect the severity of ASD.
To understand the pathophysiology of autism within the context of brain connectivity, knowledge of these two terms is important —
Long-Range Connectivity: Think of long roads or highways that connect two or more cities. Similarly in the brain, these connections help messages and information to travel to faraway regions of the brain, thereby allowing the brain to integrate the messages and make sense of the information.
Short-Range Connectivity: Think of alleyways and streets within a city. Similarly, short-range connectivity in the brain helps to understand and process the activities in specific regions.
To summarise, long-range connectivity refers to the connection between different areas of the brain while short-range connectivity is connection within specialised regions.
Studies have shown that individuals who are at a higher risk of autism show abnormally high rates of long-range connectivity in infancy. However, as they progress through childhood and into adulthood, the long-range connectivity decreases and leads to under-connectivity.
In simple terms, this means that the brain regions that were highly connected in infants with autism, actually become less connected as the infants grow older.
At the same time, short-range connectivity within the specialised areas of the brain increases over time, unlike typical development.
In most people's brains, the left side and the right side handle information differently. The left side is like a detail detective, focusing on specific bits and pieces. Meanwhile, the right side is more like a big-picture painter, taking in everything and seeing how it all fits together.
When it comes to recognizing faces, which is a visual task, the right side of the brain is usually the one responsible for the task. It looks at the whole face and puts together all the features to recognize someone. It's like looking at a puzzle and seeing the whole picture.
But in individuals with Autism Spectrum Disorder (ASD), there lies a difference. Their brains tend to favour the left side more for visual tasks like recognizing faces. Instead of seeing the whole face, they zoom in on the tiny details. It's like they're looking at the puzzle but only noticing the individual pieces, not the big picture.
This left-sided focus isn't always great for recognizing faces or understanding space. It's like trying to recognize someone by just looking at their nose or eyes instead of their whole face. So, it can make things like recognizing faces or understanding where objects are in space a bit trickier for them.
So, while most brains see the big picture with the right side, in ASD, the left side takes the lead, which can make things like recognizing faces or understanding space a bit more difficult.
Left Hemisphere Overactivity: In autism, there's more activity in the left side of the brain, particularly in how different brain regions communicate with each other. This heightened activity is directly linked to the severity of autism symptoms. This suggests that autistic individuals may focus more on specific details rather than seeing the bigger picture when processing sensory information.
Frontal and Occipital Regions: The connections between the front and back parts of the brain are different in autistic individuals. Specifically, there's less communication happening in the frontal cortex, which is involved in decision-making and social behaviour, from childhood into adulthood. This contrasts with the typical pattern where long-distance connections are strong in infancy but weaken as a person grows up.
Broca's Area Abnormalities: In autism, there are differences in how the brain's language centre, called the Broca's area, is organized. This area is crucial for speech production. The abnormal organization here might contribute to the communication difficulties often seen in autism.
In essence, these findings suggest that the way different parts of the brain communicate and organize themselves is different in autism, potentially contributing to the unique way autistic individuals process information and interact with the world.
Limbic System Differences: In autistic individuals, the limbic system, which is crucial for emotions and memory, has smaller and more densely packed neurons. This could help explain the social difficulties often seen in autism.
Cerebellar Changes: There are fewer and smaller Purkinje neurons in the cerebellum of autistic individuals. Recent studies suggest that the cerebellum plays a role in emotional processing and language, which might be impacted by these changes.
Increased Support Cells in the Cortex: Autistic individuals have more astrocytes and microglia in the cerebral cortex. Astrocytes support neurons metabolically and functionally, while microglia act as immune cells in the nervous system.
Brain Size Variations: Early in childhood, many autistic individuals (15-20%) have larger brains, a condition known as macrocephaly. By mid-childhood, brain size typically normalizes. However, this size variation isn't uniform: the frontal and temporal lobes are often larger, the parietal and occipital lobes are normal-sized, and structures like the cerebellar vermis, corpus callosum, and basal ganglia are smaller compared to neurotypical individuals.
Mutations in Cell Adhesion Molecules: In autism, there are genetic changes that affect important molecules that help brain cells connect. These molecules include:
When these molecules are mutated, it can disrupt how brain cells form and maintain connections, which might affect brain function.
Abnormal Neuronal Migration: This improper migration leads to areas in the frontal lobe with a thinner cortex and smaller neurons. These changes are linked to sensory and motor issues as well as seizures often observed in autism.
Serotonin is an important chemical in the nervous system that helps with various brain functions, including:
These processes are crucial for brain development and learning. Research has found that 45% of people with autism have higher-than-normal levels of serotonin in their blood. Additionally, abnormalities in the serotonin transporter, which regulates serotonin levels in the brain, have been observed in individuals with autism.
Studies have investigated the use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and their potential link to autism. SSRIs are medications typically used to treat depression and anxiety by increasing serotonin levels in the brain.
Out of eight studies, six found a possible link between SSRI use by pregnant mothers and the development of autism in their children. However, these studies had biases, and the authors emphasized the need for more rigorous research to confirm any connection.
Autistic individuals often face challenges with social interaction and understanding others. Two main theories help explain these difficulties from a neurocognitive perspective: the Broken Mirror Theory and the Theory of Mind.
This theory focuses on mirror neurons, a special type of nerve cell that activates when we observe someone else acting. For example, when you see someone yawning, your mirror neurons fire, making you feel like yawning too. This mirroring helps us understand and imitate others' actions.
In autistic individuals, the mirror neuron system might not function properly. This could explain why some autistic children struggle with imitation and understanding others' actions. Their brains may not effectively mirror the behaviours they observe, making social interactions more challenging.
The theory of mind involves the ability to understand that other people have their thoughts, feelings, and perspectives. This skill helps us predict and interpret others' behaviour. For example, knowing someone is sad might make you offer comfort.
Research shows that some autistic children find it hard to grasp this concept. They might struggle to understand others' mental states and emotions, leading to difficulties in social situations.
Both the broken mirror theory and the theory of mind highlight key areas where autistic individuals may face challenges. Difficulty with mirroring behaviours and understanding others' thoughts can significantly impact social interactions and cognitive development.
Understanding these theories provides insight into the neurocognitive aspects of autism, helping us appreciate the complexity of social difficulties in autistic individuals. This knowledge can inform better support strategies and interventions to aid their social development.
A significant number of autistic individuals (6% to 84%) experience gastrointestinal (GI) issues such as reflux, diarrhoea, constipation, inflammatory bowel disease, and food allergies.
Recent research has revealed that the composition of gut bacteria in autistic people is different from that in neurotypical individuals. This has led scientists to explore the potential influence of gut bacteria on autism development through the induction of an inflammatory state.
The immune system plays a crucial role in how gut bacteria affect the brain. Some autistic individuals have a dysfunctional immune system with higher levels of certain immune cells, biochemical messengers, and autoimmune antibodies.
Increased inflammatory markers correlate with more severe autism symptoms, suggesting chronic brain inflammation in some autistic individuals.
Activation of the maternal immune system during pregnancy—whether by gut bacteria, infections, or other factors—can increase the risk of autism. Pro-inflammatory immune cells (Th17) and maternal antibodies that cross the placenta may attack the fetal brain, contributing to autism development.
While Autism Spectrum Disorder (ASD) has a strong genetic basis, environmental factors, such as gastrointestinal (GI) abnormalities and immune imbalances, also play a role in its development. However, a definitive link between these symptoms and ASD has not been established.
In summary, these findings suggest that gut bacteria and abnormal immune responses play a significant role in brain development and the severity of autism symptoms.
Understanding this gut-brain connection could lead to new approaches for managing autism by targeting the gut microbiome and immune system. It should be noted that more research is needed to understand the role of GI abnormalities in ASD.
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Autism Spectrum Disorder (ASD) is a complex condition with multifaceted pathophysiology, encompassing genetic, neurological, and environmental factors. The study of these contributing elements offers critical insights into the disorder's development and manifestations.
Understanding the pathophysiology of autism requires a comprehensive approach that integrates genetic, neurological, and environmental perspectives. Continued research in these areas is essential to unravel the complexities of ASD, paving the way for more effective treatments and support strategies to improve the lives of those affected by the disorder.
