You suspect that your child might have Autism Spectrum Disorder (ASD), or he/she has been recently diagnosed. You are plunged into a world you know nothing about and you have countless questions; What exactly is ASD? What causes it? Will my child outgrow it?
What is Autism Spectrum Disorder?
Autism Spectrum Disorder (ASD) is a neurological disorder characterized by impairments in social communication, social interaction, and a pattern of repetitive or restricted behaviors, interests, or activities. Each of these impairments can be broken down into specific behaviors listed below.
Impaired Social Communication and Social Interaction:
We communicate not only through language, but through use of gestures, facial expressions, posture, and tone of voice. Only about 7% of communication is through words in comparison to 58% through nonverbal means. The ability to use nonverbal communication starts at a very young age with children. In fact, by 3 months of age infants are able to imitate facial expressions and maintain eye contact.
It is common to see problems with both verbal and nonverbal communication in children with ASD. Although not all children with ASD have delayed language, it is a warning sign if your child does not speak in phrases by age 3. More commonly, individuals with ASD have difficulty with the unspoken rules and subtle nuances of conversation. For example, they may have problems with the normal back-and-forth exchange of information in conversation, either talking excessively or providing little information beyond what was literally asked. Some individuals have difficulty following the flow of conversation as it switches from one topic to another and will keep talking about a subject long after others have moved on. In more severe cases of ASD, the individual may display unusual language features such as talking in a monotone or sing-song voice, echolalia (repeating what someone else said multiple times), palilalia (repeating a certain noise or word that the child spontaneously uses), or stereotypical speech (e.g. repeating certain phrases from TV shows or movies out of context). Language may be used as way to self-soothe or stimulate oneself as opposed to using it for communication.
In terms of nonverbal communication, children with ASD may not use gestures or use them very sparingly. Whereas most of us do things like point, shake head yes/no, or demonstrate an action with our hands while speaking, children with ASD often communicate primarily through language. Poor eye contact, difficulty recognizing facial expressions, and problems displaying emotions are common. Impairment in nonverbal communication is one of the hallmarks of ASD.
Individuals with ASD also struggle with social interaction, whether it be initiating an encounter with another person, establishing and maintaining friendships, or understanding social etiquette. As we discussed in our previous blog post, it's not that they don't desire friendships; it's that they don't understand the unwritten rules and expectations of friendships that makes it difficult for them to initiate, and maintain, friendships. Infants and toddlers with ASD may rarely show or share items of interest, exhibit little interest in playing with parents or other children, and infrequently initiate social interaction. Older children sometimes make inappropriate comments or fail to behave in accordance with expected social rules. An example might be telling a classmate that his/her haircut is ugly, laughing at someone who has fallen down and been injured, or picking his/her nose in public. Although most individuals with ASD desire friendships, they do not know how to behave like a friend; as a result, they may have few close relationships.
Restricted/Repetitive Behaviors, Interests, or Activities:
One common sign associated with ASD is repetitious behaviors such as rocking, hand-flapping, head-banging, spinning/twirling, or repeating certain sounds or words. Although not every child who displays repetitious behavior has ASD, the presence of more than four repetitious behaviors prior to 12 months of age has been associated with a higher likelihood of being diagnosed with ASD at a later age.
Some individuals may exhibit obsessive interests in certain toys or topics. While all children have a favorite toy at some time, most show an interest in other toys and games as well. In contrast, a child with ASD will focus exclusively on one toy and may be more interested in visually examining, using the toy in an unusual manner, or taking apart the toy than actually playing with it.
I recently saw a 5 year-old boy for an ASD assessment who, like many boys his age, really enjoys Legos. The notable difference was the way he played with the Legos. Most children would dump out the Legos and begin putting the blocks together to build things. My patient simply took the Legos out of the bin and then put them back in... repeatedly: in the bin, out of the bin, in the bin, out of the bin, in a perfect example of playing with a toy in an unusual manner. In older children, adolescents, and adults, the individual may talk obsessively about one topic, which he/she possesses a great deal of knowledge about. If you try to talk about anything else, the individual just circles back to his/her topic of interest.
A related issue in this category is cognitive rigidity and lack of flexibility, which refers to the inability to adapt to changes in usual routines or insistence upon sameness. A child with ASD may insist that his/her father always come in the front door or that he/she eat Kraft macaroni and cheese every night for dinner. If there are any deviations to this routine (for example, being given Velveta shells and cheese) the child becomes extremely distressed and may lash out. An adult might insist upon driving the exact same route home every day and then become extremely anxious or agitated when there is a minor detour.
What causes ASD?
The exact cause of ASD is unknown, although both biological and environmental factors have been shown to increase the risk of ASD. When looking at research, it is important to note the difference between factors that cause a disorder and factors that often accompany or are associated with a diagnosis. All of the factors listed below are associated with an increased risk for ASD, but do not directly cause the disorder.
A child’s genetic make-up is considered to be one of the biggest risk factors. In about 10% of cases, ASD is caused by specific abnormalities in DNA which result in genetic disorders such as Fragile X, Rett Syndrome, Fragile X, Tuberous sclerosis, Smith–Lemli–Opitz syndromes, and 22q11.2del. There have been over 100 genes identified that are linked with ASD. Research shows that approximately 12-20% of children who have a first degree relative (mother, father, or sibling) with ASD develop the disorder themselves. Other biological factors associated with an increased risk of ASD include “advanced” maternal age during pregnancy, maternal metabolic diseases (e.g. gestational diabetes), exposure to viral infections in utero, and abnormalities in the immune system,
Environmental factors can also increase the risk of a child being born with or diagnosed with ASD. These factors include exposure to heavy metals (lead, mercury) and organophosphate pesticides, use of certain medications during pregnancy (for example, valproate and selective serotonin reuptake inhibitors [SSRI]), birth trauma, maternal immigration (the mother immigrating from one nation to another), and inadequate blood circulation or low oxygen levels during birth.
Having one or more of these risk factors does not mean that a child will develop ASD. It is important to remember that 70% of ASD are due to unknown causes or an unpredictable interaction between biological and environmental factors. Biological factors often make a person more vulnerable to the influence of environmental factors. For example, a child who has a family history of ASD who is then exposed to lead is much more likely to develop ASD than a child who exhibits only one of these risk factors. But this does not mean that EVERY child who has a family history of ASD and is exposed to lead will develop ASD.
Will my child outgrow ASD? Will the ASD diagnosis follow my child into adulthood?
The answer to this question is still being debated. Because ASD is considered by many scientists to be a neurological disorder in which the “wiring” in the brain is different, many believe that it is a lifetime diagnosis. Just like someone who is born color-blind, someone with ASD cannot “outgrow” or spontaneously be cured. But, like someone who is color-blind learns to adapt to their inability to differentiate different colors, a person with ASD can learn to adapt and compensate for problems that they have with social communication, social interaction, and restricted interests/repetitive behaviors. Though they can compensate, they are never “cured.” For example, an individual can learn to make eye contact when talking, take turns in conversation, and temporarily suppress repetitive movements, although it is not something that will likely ever occur naturally.
Having said that, recent research has shown that there is a subset of individuals who receive a diagnosis of ASD in early childhood, which is then followed by normalization of skills years later (referred to within the scientific community as "Optimal Outcome"). A study published in the Journal of Autism and Developmental Disabilities in 2016 found that 9% of individuals who were diagnosed with ASD at age 2 no longer met diagnostic criteria 2 years later. Factors associated with optimal outcome include intense early intervention, higher IQ, and milder communication/language deficits at diagnosis.
While ASD is considered a lifetime diagnosis, it should not be considered a "life sentence." The outcomes for children diagnosed with ASD early, and who have early and intensive interventions, are excellent. Parents and care-givers should keep positive and educate themselves on therapies and treatments to help their children gain those life skills which will help them immensely later in life.
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