Autism, or autism spectrum disorder (ASD), gathers under a single umbrella a range of complex conditions related to the development and functioning of the brain.
What is autism?
Autism is usually defined as a behavioral disorder that stands apart from other similar conditions through the presence of constant, significant deficits affecting various aspects of neurological development: from challenges regarding communication and social skills to a narrow range of interests or a preference for repetitive activities.
Another definition of autism can be drawn around its primary characteristic, namely the neuroatypical nature of the way a person on the autism spectrum develops and behaves.
According to recent studies validated by the CDC (the Centers for Disease Control and Prevention in the USA), 1 in 36 children has autism. ASD is 4 times more frequent among boys, while girls generally show less pronounced or less visible signs.
A study that ran over 8 years reported that 1 in 6 children aged between 3 and 17 had been diagnosed with a developmental disability, from autism spectrum disorders to ADHD or cerebral palsy.
The first signs of an autism spectrum disorder are noticed around the age of 1 to 2 years, when a regression in the child's development becomes visible, which can be a warning signal for parents.
Since we are talking about a spectrum disorder, the severity of the symptoms and their impact on quality of life ranges from high-functioning autism (as is generally the case with people diagnosed with Asperger syndrome, where the difficulties concern mainly the ability to understand and build human relationships) to low-functioning or even nonverbal autism, with severe deficits and major difficulties in coping with everyday life.
The main areas of development affected by ASD are:
- Cognitive delays
- Motor skills (both fine and gross)
- Adaptability in thinking and behavior
- Verbal and nonverbal communication
Early diagnosis and early treatment, with modern therapies and a personalized plan, will significantly improve the life of a child with autism, helping them develop and overcome some of the challenges brought by autism, so that in adulthood they have the chance of an independent and fulfilling life.
The causes of autism
Autism is a developmental disability caused by atypical brain functioning. These differences in functioning and development can be influenced by various factors, from genetics to environmental factors, but so far no clear cause has been established for autism spectrum disorders.
It is important to keep in mind that the presence of, or the exposure to, the factors mentioned above can increase the risk of autism, but this cannot be equated with the notion of a cause of ASD.
One myth still in circulation blames autism on vaccination. This theory was based on the overlap in time between the mandatory vaccination schedules that exist in many countries (where the schedule and the boosters extend to around the age of two) and the moment when the first signs of a possible developmental disorder become obvious or visible. One study supported this theory, but it was later retracted because of a flawed methodology.
Risk factors
The number of children diagnosed with an autism spectrum disorder is rising, yet this trend could also be explained by a better capacity for detection and diagnosis, alongside the simpler explanation, namely a rise in ASD cases.
ASD affects children of all races and nationalities, but certain factors increase the risk of being neurodivergent. They include:
- Genetic factors - here we are talking both about genetic inheritance from one of the parents and about spontaneous mutations. There are a number of situations in which the chances of a child being on the spectrum are higher than usual: there is a brother or a sister with ASD, or the child has certain conditions such as Fragile X syndrome or tuberous sclerosis.
- The child's sex - boys are 4 times more likely to present an autism spectrum disorder compared with girls.
- The age of the parents at conception - although there is still no clear correlation, certain scientific studies suggest that the chances of having ASD increase when the parents are, at the moment of conception, over 35 years old for women and 40 years old for men.
- Certain factors linked to birth - from severe prematurity (under 26 weeks) to low birth weight or complications at birth.
The symptoms of autism
The first signs of an autism spectrum disorder can be visible in early childhood, from avoiding eye contact to a lack of response to the sounds made by adults, including when the child is called by name, or indifference toward the people who care for them.
Below we present the most common signs seen among children diagnosed with autism:
Signs of a possible autism spectrum disorder in children under 1 year of age:
- Babbles little or not at all
- Does not keep eye contact
- Does not respond when spoken to
- Shows greater interest in objects than in people
- Uses toys in an unusual or limited way
- Often uses repetitive movements
- Loses or stops acquiring communication and language skills
Signs of a possible autism spectrum disorder in children under 2 years of age:
- Shows interest in very narrow activities
- Behavioral problems appear, such as self-isolation or self-harm
- Shows no interest or curiosity in playing with other children
- Repeats words or phrases without understanding their meaning
- Has difficulty responding to social interaction
The signs specific to autism are not, however, limited to children. Below we will discuss, one by one, the main signs that can point to an autism spectrum disorder, regardless of age.
Communication difficulties
Both verbal and nonverbal communication are a challenge for people with autism. The difficulties they meet vary from person to person:
- Delay in acquiring speech and language skills;
- Echolalia (repeating the same phrase or the same word over and over);
- Rhythm and tone differ from those used by most people (the variations range from a robotic tone to a singsong one);
- Difficulty using pronouns correctly (they often use the second person when they mean to express something personal, about themselves);
- They do not understand sarcasm, jokes or poetic, metaphorical expressions and for this reason they take things literally;
- They will not take part in role-play or imaginative games;
- They need more time to process questions before giving an answer. This is also one of the reasons why it is difficult for them to hold a conversation.
- Nonverbal language is limited, from gestures to facial expressions;
- They use a range of other ways of expressing themselves, rather than articulate speech: gestures, images, sounds and so on;
- They do not use and generally do not understand or respond to common gestures such as pointing at an object.
Behavioral patterns
People with ASD generally prefer predictability, routine and rituals. Among the behaviors seen frequently are:
- The need for constant movement and hyperactive behavior;
- Repetitive movements such as hand flapping or shaking, jumping, walking on tiptoe, rocking and so on;
- Fixation on certain activities or objects;
- Specific routines and rituals. Changes in these routines can give rise to frustration and anxiety.
- Heightened sensitivity to touch, light, smell or sounds;
- Specific eating habits such as food fixations and preferences or, at the other end, refusing certain foods for various reasons, from smell to texture;
- Lack of coordination (clumsiness);
- Impulsiveness, together with limited awareness of danger;
- Aggression - directed both at themselves and at other people;
- Limited attention span;
- Strong fixation on certain things that become special interests. These can change over the course of a lifetime.
- They tend to line up or group objects;
- They often suffer from severe anxiety or from phobias;
Difficulties in social interaction
- They generally avoid eye contact;
- They prefer to spend time alone; children prefer to play alone or next to other children, rather than with them;
- They tend to refuse or avoid physical contact, including hugs;
- They do not understand emotions, neither their own nor those of others;
- They have difficulty reading nonverbal signals and communication - facial expressions, tone of voice and so on;
- They do not respond when they are called by name, yet they will respond to other sounds;
- They are generally perceived as distant, cold or insensitive;
- Most of the time they do not notice whether someone enters or leaves the room they are in;
- They avoid comfort and consolation from others (at times they accept it as long as it comes in a form they prefer or tolerate)
- They have difficulty building and keeping relationships;
- Their behavior is often labeled as unusual or, at times, even inappropriate from the point of view of generally accepted etiquette.
Other characteristics present in autism
- Fascination with certain topics of interest or hobbies
In DSM-5, one of the diagnostic criteria for autism is “highly restricted, fixated interests that are abnormal in intensity or focus”, which could be described as “obsessions”.
These can vary a great deal. Some people are fascinated by trains and railway tracks, able to spend a long time just watching videos of trains running on the tracks. Others have a passion for words, fonts and characters. And, of course, there are many more unique varieties of such “obsessions” among people with ASD
Such a fixation is not something that happens only among people with autism. Many neurotypical people also develop interests or hobbies as they grow up, and some of these can be just as intense as the ones we call “obsessions”. Even so, such intense fixations on a subject are less frequent in neurotypical children than in children with autism. While some of these fixations can change over time, some prove to be constant throughout life.
- Sensory hypersensitivity
When the senses of an autistic individual are heightened to the point where sensory input is uncomfortable for them, we can say that this person experiences sensory hypersensitivity. It can affect all five senses - sight, hearing, touch, taste and smell.
Hyper-hearing (also known as hyperacusis) is when sudden, unpredictable sounds, such as the sound of a phone, can startle someone.
Hypersensitivity of sight appears when a person is negatively affected by stimuli such as bright lights or eye contact.
Olfactory hypersensitivity is present when people cannot tolerate certain smells or tastes and may insist on wearing the same clothes all the time.
Tactile hypersensitivity is when people cannot bear certain textures or being touched (such as when another person tries to hug them).
- Anxiety and phobias
Even though it is not part of the diagnostic criteria for autism, many people with ASD experience high levels of anxiety. Research varies, but the consensus suggests that about 40-50% of people with autism may receive a clinical diagnosis of anxiety.
Difficult social situations and stimulating sensory environments can increase the stress and the anxiety of people with autism.
Another significant cause of anxiety is the feeling of being misunderstood and/or not accepted by non-autistic people. In order to “fit in” and not be seen as different, people with autism might mask or camouflage self-soothing behaviors, which can increase anxiety and have a negative effect on their mental health.
Other causes of anxiety among people on the autism spectrum are a change in routine, especially an unexpected change, and difficulty in identifying, understanding and managing emotions (also known as alexithymia).
Research examining the types and the frequencies of phobias in children with autism found odd, intense fears in about 40% of children with autism, while unusual fears were present in only 0-5% of children without autism, including children with learning disabilities, language disorder, ADHD or intellectual disability. Studies also indicate that, while some of the most frequent fears of children with autism and of typically developing children overlap, children with autism have frequent phobias that were not among those most often reported for neurotypical children. These include the fear of storms, large crowds or enclosed spaces.
- Meltdowns
Unlike tantrums, which occur in all children (whether their development is neurotypical or not), meltdowns are caused by a high level of stress that a person with ASD is not able to manage.
While a tantrum is a behavior shaped by circumstances and aimed either at obtaining something or at gaining an adult's attention, a meltdown can be brought on by countless factors and is not a behavior or a way of drawing attention to oneself, but a response to one of the triggers.
Among the most frequent triggers of a meltdown are:
- Sensory overload - this includes any kind of sensory stimulus, from bright lights to touch or the noise that comes with a crowd; in this context the brain can no longer filter and handle all the incoming information, which is why the body goes into a state of panic;
- Sudden or unexpected changes - for a person with an autism spectrum disorder, unexpected changes can cause a very strong state of anxiety
- The inability to communicate their needs - this can create a great deal of frustration, which then turns into a meltdown
- A large amount of information that has to be processed in a very short time - in general a person with ASD needs a longer time to process information; when pressure appears in this direction, the level of stress felt also rises, which can bring on a meltdown.
Types of autism
The term autism spectrum disorder brings together under one umbrella term 5 subtypes:
- Autistic disorder
Also known as Kanner syndrome, classic autistic disorder shows the classic symptoms associated with autism - from difficulties in communicating with and understanding others to avoiding eye contact, sensory hypersensitivity and a tendency toward self-isolation.
- Asperger syndrome
According to DSM-5, this is now included under the name of level 1 autism spectrum disorder. People with this type of disorder have normal verbal communication skills and normal or even above average intelligence, which is why it has often been described as a “functional” type of autism. The main challenges they meet are related to social interaction. One characteristic of this type of ASD is the development of an intense, often obsessive interest in one or two specific subjects.
- Rett syndrome
Rett syndrome was left out of the ASD spectrum in DSM-5, the Diagnostic and Statistical Manual of Mental Disorders published by the American Psychiatric Association.
Rett syndrome is currently considered to be a progressive neurological disorder, seen mainly in girls, with signs visible around the age of 6 months. Among the signs that led to this syndrome initially being included in the autism spectrum are: hand flapping, delayed speech and difficulty in acquiring fine or gross motor skills.
- Childhood disintegrative disorder
Also known as Heller syndrome or infantile dementia, the signs of this type of ASD generally become visible around the age of 2, yet they can appear at any point up to around the age of 10. Until that moment the children have had a normal course of development, but they hit a wall and then begin to regress both in social interaction and in behavior in general. The loss of skills happens gradually, yet at an accelerated pace - they refuse physical and eye contact, they stop speaking and so on. It generally starts with changes in behavior (anger, agitation, fear), followed by the loss of bowel and bladder control, followed by the rejection of social interaction. The children will not regain the lost skills even after the period of regression ends.
This form of autism is rarely seen. At present doctors believe that there is a correlation between it and the disorders that cause seizures.
- Pervasive developmental disorder not otherwise specified (PDD-NOS).
This form of autism is generally less severe than the ones mentioned above. People with this type of autism may have experienced delays in reaching milestones such as speech or motor skills. Both children and adults with PDD-NOS are able to manage the symptoms of this disorder more easily than those diagnosed with other forms of autism.
Diagnosing autism
Diagnosing autism spectrum disorders can be difficult, because there is no medical test, no laboratory analysis, for diagnosing the disorder. Doctors look at the patient's developmental history and behavior in order to make a diagnosis. Another factor that makes an accurate diagnosis of autism harder is the variety of symptoms seen, depending on the type of autism spectrum disorder.
Despite these challenges, an early diagnosis can have a major positive impact, offering ways of easing the symptoms of ASD, which will improve the quality of life of the patient and of the family as well.
Among the methods used to determine whether the diagnosis of autism is the right one are:
- Observing the child and their social interactions, plus questions about how these skills have developed over time
- Tests to determine the level of development of social, language and communication skills and so on
- Genetic tests to rule out conditions with similar signs, such as Fragile X syndrome
- The use of the diagnostic criteria in DSM-5
If your child shows one or more of the signs linked to a possible autism spectrum disorder, a screening carried out by a specialist doctor is absolutely necessary.
The treatment of autism
Autism spectrum disorders cannot be cured, yet there is a variety of therapies that have been scientifically proven to be effective in reducing the symptoms of ASD and in supporting the development and the skills that are essential for a fulfilling life for the child or the adult with autism. In the case of children, through early intervention they can be supported and helped to acquire social, communication and functional skills that are critical in everyday life.
Among the most widely used therapies and treatments for the symptoms of autism are:
- Brain training
- Behavioral therapies
- Communication therapies
- Educational therapy
- Family therapy
- Medication
Complications associated with autism
The complications of autism spectrum disorder affect not only the person with autism but also those close to them and can have an important impact on relationships, social interaction, career opportunities and so on.
Among the most frequent complications and comorbidities associated with an autism spectrum disorder are:
- Problems at school, related to the ability to learn
- Social isolation
- Victimization
- Food allergies
- Sleep disorders
- Gastrointestinal problems
- Obesity
- Diabetes
- Depression
- Anxiety
- ADHD
- A negative impact on the ability to live independently
- A high level of stress within the family
Preventing autism
Preventing autism is not possible, yet there are a number of aspects you can control, such as early diagnosis and early intervention, in order to maximize the positive impact of the therapies.
Although early treatment is desirable, there are therapies that are effective in easing the associated symptoms, regardless of age.
Although autism cannot be cured, children and adults can learn to lead a fulfilling life despite the difficulties associated with a diagnosis of ASD.
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