By Sundari Elango, Farooq Ali Khan, Abhishek Kumar, Raamesh Gowri Raghavan and Sukant Khurana* (*to whom correspondence should be addressed)
BACKGROUND –
Autism or Autism spectrum disorder is used to refer to a range of medical conditions that affect a person’s ability to participate in social activities making them socially awkward and shy. It is a neurodevelopmental disorder whose symptoms are usually observed when the child is around the age of 2 or 3. This is the time when kids start meeting the outside world and start participating in social activities. Hence this is the time when their symptoms become apparent. Children with ASD have difficulty with social skills and have problems in communicating with others, in both verbal and non-verbal way. The word Autism comes from the Greek word Auto meaning self. It was meant to describe a condition where the person has isolated themselves from the society. Autism affected people do tend to do this and hence are typically awkward around others. Eugen Bleuler, was the first person to use the term in 1911 to refer to a group of symptoms observed in schizophrenia. In autism, the way information is processed is altered by modifications to the synapses between nerve cells. There are also some studies that indicate the relation between autism and the amygdala in the brain. Though the disease is in itself not fatal, it makes the affected individuals to want to isolate themselves and escape from the world. One way they do this is by seeking water. Most adults with ASD die due to drowning while the children affected die due to injuries caused by their clumsiness. As of now, there is no cure for ASD but early detection helps in the control and management of the disease and its symptoms.
History –
Though Autism as a disorder was described in medical terms by Leo Kanner in 1943, there were several mythical and true descriptions of it. There have been mythical stories about children whose souls were stolen by angels and hence behaved differently from the other kids. The description of the behaviour of the children remarkably resembles those of an autistic child. The frith thing, autism, enigma something. It was Kanner who used the term Autism to describe a group of symptoms exhibited by children. These symptoms include, socially aloof and indifference, speech impairment or difficulty and put up great resistance to change in their routine. Amidst all this, he emphasised that they had strong intellectual capabilities. He was very adamant on this point and about autism being an unique disorder having no relation whatsoever to other neurological disorders being described at the same time. The first patient to be described with Autism was Donald Tripper. In Kanner’s article he was famously described as Case1. Along with Donald, Kanner also observed 10 other children who had behavioural problems and abnormalities resembling Donald’s. Before Kanner, Hans Asperger in the year 1938 had described a condition now known as Asperger. But due to various reasons, ASD and Asperger were seen as the same thing and not as different disorders until about 1981. Asperger himself believed that ASD and Asperger were distinct but his view was not accepted. The reason he strongly believed they were distinct was because those with Asperger had higher language skills and though they had similar social interaction inabilities, they did not have the same learning disabilities and were pretty good at grasping highly technical skills. In 1949, Kanner came up with the theory that the reason behind children developing Autism was due to their parents’ attitude towards them. He analysed a small population of affected children who apparently came from families where both the parents were highly smart and didn’t have a warm approach towards the children. He termed this as Refrigerator Mothers and blamed the parents for the children’s condition. This theory was widely popular accepted until in 1964, when Bernard Rimland opposed it. He was the father of a child with Autism. He presented the fist solid argument against Refrigerator Mother Theory and supporting the condition to be a purely biological one.
CLASSIFICATION –
Autism Spectrum consists of several disorders each with higher severity than the last. They usually have similar symptoms but the extent to which these symptoms are manifested is what might vary between them. The disorders included are,
1. Asperger’s Syndrome — This comes pretty early on in the Autism Spectrum with symptoms being not as terrible as the others. The symptoms that set it apart from the others in the spectrum are that the affected people are almost always very smart, able to take care of themselves. But the reason why this syndrome is placed under the AS is because the affected people have trouble socially, repeating a certain behaviour and being too focused on something.
2. Pervasive Developmental Disorder, not otherwise specified (PDD-NOS) — In this, the people affected have difficulty with communication, social behaviour, changes in routine and surrounding often indulging in repetitive behaviour and showing unusual behaviour with objects and being skilled in certain areas while being unable to learn certain others.
3. Autistic Disorder — This is more in tune with the definition of Autism defined in history. In this the symptoms are exhibited at a more intense level.
4. Childhood Disintegrative Disorder — This is the most extreme of the disorders in Autism spectrum. In this, the child shows normal development the first two years of his life and then there is a sudden reversal in the development. The child quickly loses motor, language and social skills between ages of 2 and 4.
SYMPTOMS –
1. Resistance to change in routine
2. Avoid eye contact
3. Inability to respond to nonverbal gestures like smiles etc
4. Bad with facial recognition
5. Repeat others’ words — echolalia
6. Unable to make requests and share experiences
7. Prone to inflict self injuries
CAUSES –
As of now, the causes of Autism are not completely determined. However there is strong evidence for the cause to be genetic in nature. Particular genes have not been isolated but there is speculation that the genes that cause birth defects might be the ones behind it. There are also studies that report that Autism could be a condition caused due to multiple conditions co-existing and occurring due to more than one underlying cause. However, as stated before, the primary reason seems to be genetic in nature.
1. Genetics — Though most cases of ASD are found to occur spontaneously, mutations seem to be one of the main reasons for ASD. This is mainly because, in most cases, the affected individuals fail to reproduce. There are studies which indicate that the heritability between twins for Autism is 0.7 and for ASD is 0.9. For siblings, this is a little lesser, around 0.25. Researchers in the 1990 found that there were mutations in the X Chromosome that could be the cause for Autism. CGG trinucleotide repeat was found in the promoter of the gene FMR1 in the X Chromosome and around 20% of boys with this mutation had behavioural symptoms similar to those observed in ASD affected children. In girls, it was found that the mutations that inactivated gene MECP2 causes Rett Syndrome which produces symptoms similar to Autism.
2. Advanced age in parents — As the father ages, the sperms he contains will accumulate more mutations. These mutations could result in genetic causes that could have the potential to cause Autism and other disorders in the Autism spectrum.
3. Amygdala — It is a component in the brain which forms a part of the limbic system of the body. It is involved in memory, decision-making and emotions. Since it is involved in the production and stimulation of emotions in our body, it is also involved in Facial Recognition system. It is because of this that we feel warm and happy when we see the faces of the people we love. For people with Autism, the amygdale is found to be under active.
4. Autoimmune — There are theories that state that Autism could be due to an infection to the mother during pregnancy. The infection could make the antibodies to attack the developing baby’s brain and its parts. It could also be caused due to an autoimmune disease in the mother which could make the mother’s antibodies to enter the baby and attack it.
5. GI tract — There have been reports circulating for a long time now that the GI tract is involved in Autism. This is due to various complaints by parents that the children with Autism have more problems with the GI tract than usual children. But there hasn’t been any conclusive proof for this.
DIAGNOSTIC METHODS –
Diagnosis for Autism is not based on a medical test like blood test etc, but is based on more of s developmental or behavioural test. According to the Diagnostic and Statistical Manual updated in the 2013 to its fifth edition, Autism is characterised by lack of proper social behaviour and responses along with repetitive behaviour consisting of repeating a certain action or behaviour again and again. Also, there is a strange resistance to change. There are several interview-based tests available to test and confirm the presence of Autism in a person.
1. Autism Diagnostic Interview — Revised — This is an interview conducted with the parents of the individuals suspected of having possible Autism. It can be used for anyone with a mental age of above 18 months. The first session contains questions for assessing the individual’s social interaction skills. The test is also equipped to test the individual for repetitive behaviour in the way of speeches, actions etc. It contains a total of 40 questions with true/false type answers. The cutoff score for social interaction is 10, communication and language is 7 or 8 based on whether it is non-verbal or verbal and for repetitive behaviour is 3. Based on this, a final score is calculated and this indicates whether or not the individual has Autism.
2. Autism Diagnostic Observation Schedule — This questionnaire consists of a series of questions asked to the subject to test whether the subject has Autism. It takes 30 to 60 minutes to administer the test. In this test, the person conducting the test observes the behaviour of the individual and selects appropriate response from the given and predefined list of responses.
3. Child Autism Rating Scale — This is used to differentiate the children with Autism from others with other developmental disorders. It is rated from 1 to 4 and based on this, the children is rated as non-autistic, mildly autistic, moderately autistic or severely autistic.
TREATMENT AND MANAGEMENT –
For Autism, it is seen that the children affected usually grow up to their full potential if properly taken care of from the young and given proper care and therapies. The treatment usually includes various kinds of physical and mental therapies and is designed according to the needs of the children. Treatment is usually provided to make the affected individuals more independent, to improve their quality of life and to reduce the stress on the family members of the individual. The different treatments administered are,
1. Behavioural Therapy — This therapy uses Positive Reinforcement to improve the social behaviour and the communication skills of the people with autism. People treated with this could be of any age. The kind of therapy used depends on the needs of the individual and is designed to suit their needs and problems. The different therapies designed in this include,
i. Applied Behaviour Analysis (ABA) — This is based on the fact that when you reward someone for certain behaviour, they are more likely to repeat that behaviour than otherwise. It was first described by Baer, Wolf and Risley in 1968. It is said to be one of the most effective treatments against Autism right now. It involves about 40 hours of therapy per week on a one on one basis with a certified therapist. Since this therapy is based on making the affected individuals learn to be more socially acceptable, it has received some backlash in the recent years. According to an article in The Atlantic, dated August 11th 2016, a few adults who received ABA therapy as kids have spoken out against the therapy. They have voiced concern against the therapy stating that kids should not be blamed for behaving differently from the expected norms and the different behaviour should be embraced by the society as part of neurodiversity.
ii. Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH) — In ABA, the child and the child’s behaviour is moulded to suit the environment. However in the technique TEACCH, the environment is moulded according to the behaviour and the needs of the child. It was developed at the University of North Carolina, Chapel Hill by Eric Schloper in 1971. It does not aim to cure Autism but to aims to respond to it and to those affected by it. It tries to understand the reason for the behaviour differences in Autisctic people and supports them to understand why a certain behaviour is looked down upon.
2. Medication — Autism is not a disease that can be cured with medication. The core social and behavioural problems cannot be dealt with by using medication but the other related problems like depression, anxiety, obsessive-compulsive behaviours etc can be helped with by medication. Clonidine and Guanfacine are medications commonly used as antipsychotics to treat the impulsive and aggressive behaviour of autistic children. Lithium is also used for controlling the aggression of the affected. They are also found to help with sleeplessness that occurs along with Autism. Selective Serotonin Reuptake Inhibitors (SSRIs) are usually used to help with combating depression associated with Autism. Commonly used SSRIs are Citalopram, Fluoxetine and Sertraline. These help with depression and anxiety problems however they have many side effects like weight gain, insomnia etc.
RECENT FINDINGS –
1. New genes discovered to be linked to Autism — In a recent study, around 18 new genes were discovered to be linked with Autism. It was an analysis of a whole genome sequence of around 5,193 people and around 61 genes were discovered. Out of these 43 were already linked with Autism and 18 were new. Of the new genes discovered was MED13, related to the intellectual disability gene MED13L. This gene had harmful mutations in 13 genes. Another gene bearing harmful mutations discovered was PHF3 which appeared in 4 families. This gene is involved in encoding a protein that is used to regulate chromatin which is nothing but a complex of DNA and protein occurring in the nucleus of the cell.
2. Accumulation of fluid in brain — According to a recent study, the accumulation of fluid in brain at the age of 6 months could indicate a possibility of diagnosis of Autism at age 2. The Cerebrospinal Fluid (CSF) is involved in transporting protein to the brain that is required by the brain and at the same time removing waste generated from the brain. The accumulation of this fluid in the brain of children could work as a biomarker and could be used by doctors to predict Autism before its onset.
3. Epigenetic changes in a Dad’s sperm — A recent study has suggested that environmental exposure can lead to epigenetic changes in the father’s sperm which could lead to the child developing Autism. Exposure to certain risk factors in the environment brings about changes in the cells making the sperm and the egg. However it is found that these changes affect the sperm-making cells a lot more than the egg-making ones. This could be the reason why children with older dads are at a greater risk of developing Autism.
4. Teenage moms and Autism risk — In a recent study, it was discovered that children of teenage moms had Autism rates 18 percent higher than children born to older moms. It was also found that Autism rates were higher among children born to parents with a wide age gap.
EPIDEMIOLOGY –
In Canada, the Autism rates are at about 1 in 450.
In the USA, 14.7 per 1000 children are affected.
In China the prevalence is about 10.3 per 10,000.
In India, the rates are around 64 per 10,000. However, there hasn’t been a proper epidemiological study conducted in India to know for sure what the numbers are.
In France, the prevalence rates are 1 in 150. In England the number is expected to be about 0.11 to 2.98 per 10,000.
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About:
Dr. Sukant Khurana runs an academic research lab and several tech companies. He is also a known artist, author, and speaker. You can learn more about Sukant at www.brainnart.com or www.dataisnotjustdata.com and if you wish to work on biomedical research, neuroscience, sustainable development, artificial intelligence or data science projects for public good, you can contact him at skgroup.iiserk@gmail.com or by reaching out to him on linkedin https://www.linkedin.com/in/sukant-khurana-755a2343/.