In Physical & Mental Health

Autism Spectrum Disorder Explained

According to the latest edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), Autism Spectrum Disorder (ASD) refers to a wide range of symptoms and levels of impairment or disability that children can have and which are most often carried with them throughout their life spans.

Autism Spectrum Disorder

The National Institution for Mental Health says these kinds of disorders are characterized by:

  • Ongoing insufficiency in social communications and interactions in multiple contexts;
  • Repetitive configurations of behavior, interests, or activities;
  • Symptoms present within the early developmental period (first two years of life); and,
  • Clinically significant deficiencies in social, occupational, or other realms caused by these symptoms

Some children are only mildly impaired by their symptoms; others are severely disabled. Asperger’s syndrome, formerly included as its own category, is now considered as the mild end of the Autism spectrum. Some other very specific syndromes such as Fragile X and Tubular Sclerosis are also included in this category.

Possible Causes : Genes and Environment

Researchers have not yet established exact causes of autism spectrum disorders (ASD), but studies show that both genes and environment play important roles.

Exactly which genes are involved is not yet clear with regard to all the illnesses in this spectrum: but in identical twins (two people who share the exact same genetic code), if one has ASD, in 9 out of 10 cases the other also does. For any sibling of someone diagnosed with ASD, the risk of developing the disorder is 35 times greater than normal. In some of the syndromes included in ASD, such as Fragile X syndrome and tuberous sclerosis, more specific genetic ties have been identified. But most children diagnosed with ASD at the present time have no reported family history, which suggests to the researchers that random, rare and perhaps multiple gene mutations are likely to affect individual risk. At the same time, having an identifiably increased risk does not mean that a child will inevitably develop ASD.

Influencing factors from the environment may refer to anything outside of the individual body that can affect health: the air we breathe, the water we drink and bathe in, the food we eat, and countless other things that our physical bodies may touch. This even includes the time period before birth, when factors in utero may directly affect the child. Research is ongoing to determine the impact of exposure to toxins, complications in birth and pregnancy, parental age, and family medical conditions. It is likely that more than one environmental problem causes increased risk for ASD.

That being said, none of these potentially causative environmental risks have been clearly identified. Globally and nationally, childhood vaccinations against infectious diseases such as polio and measles have greatly reduced the disability and death rate among children that prevailed before such measures were available. A minority of parents of ASD children have suspected that vaccinations have a close relationship to the onset of symptoms. One of the suspect ingredients was a preservative called thimerosal, but this has not been included in vaccines since 2001; yet the rate of children diagnosed with ASD continues to rise. Another suspicion centered around vaccines that protect against several diseases at once. However, none of the many studies that have been conducted in the last twenty years show any link between autism and these vaccines. The most recent information on this can be found here.

Signs and Symptoms

The variation in symptoms between children diagnosed with an illness on the Autism Spectrum Disorder is so wide as to make generalizations relatively useless. In general, however, there are two broad areas of interest in behaviors or lack thereof:

  1. Impaired ability to communicate, especially socially
  2. Behaviors that are endlessly repeated and stereotypical

Even infants with ASD may seem different very early in their development. Those who rarely make eye contact, or who do not begin back and forth play and babbling with their parents may be showing very early symptoms. Those toddlers who become overly obsessed with certain objects and do the same thing over and over again should also be carefully watched for other indications of the disorder. Some children who seem to be developing normally until their second or even third year of life can start to lose interest in other people and become silent, withdrawn, or indifferent to social interaction. This is called regression.

Lack or oddity of social relationships is what is most likely to be noticed as a primary symptom. Even very young children with ASD may not make eye contact; they do not look or listen to people in their environment or respond to them; they do not share their interest in their playthings with others, verbally or otherwise; and they may have very atypical reactions to other people who are showing anger or affection. It is as if they cannot respond emotionally to cues in other people because they are not paying attention to social cues. One study has shown that children with ASD focus on the mouth of a person speaking rather than on the eyes. They seem to miss subtle social cues- tone of voice, gestures, facial expressions – that normal” children are beginning to read.

At the same time, it can be very difficult for adults or older children to understand what children with ASD are saying with their body language. Their movements or facial expressions may not “match” the social context at all. Those who do learn to speak may have an unusually flat or sing-songy quality to their voices. This goes along with their difficulty in understanding other people’s situations or points of view for the same reasons.

Some noticeable concerns for children with potential Autism Spectrum Disorders:

  • Failure to react to their own name or other verbal efforts to get their attention
  • Slowness in developing gestures, such as pointing
  • Ceasing to continue with cooing and babbling after infancy
  • Language may be delayed or entirely undeveloped
  • Speak single words, seeming unable to combine words
  • Repetitive words or phrases, called echolalia

Even children on the Autism Spectrum who do have language skills are often lacking in the exchange within conversations. They may speak at great length about their own favorite subject, without allowing anyone a chance to respond. Those who have little or no language skills may simply scream or act out to get what they desire.

Behaviors That Are Repetitive

These kinds of symptoms may be mild and discreet, or extreme and distracting, varying from simple finger movements to a constant flapping of the arms or walking in circles. Their interests may be focused in the extreme, like focusing on parts of objects or lining up toys in a certain way and not actually playing with them. If they are interrupted in these patterns, they may become extremely upset. They often do best with a very regular daily routine, and may not be able to get past their inflexibility: this may manifest in everything from what and how they eat, to the route they take to school or the identity of the school driver. They may completely decompensate when placed in a new or stimulating environment.

Diagnosing Autism Spectrum Disorder

Often a two-stage process, the first indication is the general developmental screening that occurs during regular checkups with a pediatrician. A specific screening is recommended by the American Academy of Pediatricians at 18 and 24 months. If something is noticed, there will be a referral to team of health professionals with a range of specialties who are equipped to identify many kinds of developmental problems. The earlier these conditions are diagnosed, the more likely it is that specific interventions may improve the child’s condition and prevent some of the more serious implications.

There are helpful resources about ASD screening on the Center for Disease Control website.

The second stage of diagnosis will seek first to eliminate other possible conditions that may be causing the child’s symptoms. Cognitive level, language level, and adaptive behavior (skills of eating, dressing, etc) will all be assessed. ASD may occur alongside other illnesses, and so evaluation may even include brain imaging, hearing, and genetic testing. The outcome of a comprehensive evaluation will help plan for specific treatment and interventions for the child.

Other Related Concerns

Sensory issues

Child may over or under react to some sights, sounds, smells and textures: for example, showing discomfort from clothes touching lightly on their skin; pain from sounds like a ringing telephone; non-response to cold or pain.

Sleep problems

Falling asleep, staying asleep. Lack of sleep may make it even harder for the child to function.

Intellectual disability

Many children in this category have some amount of intellectual disability. Some abilities may be normal or even above average, while other aspects like cognitive and linguistic ones may be relatively weak.


Either starting in early childhood or during teen years, one out of four children with this diagnosis will have seizures from abnormal electrical activity in the brain.

Two specifically genetic conditions on the ASD spectrum:

Fragile X syndrome is genetic, the most common form of inherited intellectual disability and giving symptoms similar to ASD. There is a mutation on a single gene, a portion of which appears pinched under the microscope. It turns off the gene, to one extent or another.

Tuberous sclerosis is a rare genetic disorder wherein nonmalignant tumors grow in the brain and other organs. It is caused by a genetic mutation which has also been linked to intellectual disability, epilepsy, and other health problems.

What Treatments Exist for ASD?

There is no known cure for autism spectrum disorder (ASD), but beginning treatment as early as possible after diagnosis, using school-based programs, and working with medical teams can definitely reduce dysfunctional ASD symptoms and increase the child’s ability to grow and learn.

Behavioral therapy that is intensive during toddler or preschool years increases cognitive and linguistic outcomes in children with ASD. Start as soon as is feasible after diagnosis providing focused learning activities for at least 25 hours/week year round: with very small classes and as much one-on-one time as possible, providing special training for parents and family, and monitoring and measuring progress to readjust goals; providing high structure and visual clues, using a curriculum focused on language and communication and social skills; working with daily living skills, such as grooming; and school-readiness skills such as letter recognition and counting are all part of the recommendations from the American Academy of Pediatricians (resource)

More information about U.S. Department of Education programs for children with disabilities is available here.

Living with the Diagnosis

You may be feeling unprepared for parenting a child diagnosed with ASD. There are many programs, social services, and treatment options to help. Here are some beginning tips:

  • Keep a record of all your meetings and conversationswith the health care providers and teachers so that you can recall the origin of various ideas
  • Keep copies of your doctor’s reports and evaluations
  • Ask about autism advocacy groups in your area
  • Ask to find local autism experts who can help you develop a treatment plan and find local resources as needed.

Down the Road

You and your child will need different supports and different plans throughout the ongoing stages of your child’s life. Your mind may find its greatest fear in wondering what will become of your child as an adult. There are beginning to be many options for adults who have ASD. These range from independent living, in their own apartment, if there are decent support systems for their deficiencies in the environment; living at home with their families who may be able to get some government financial assistance through Social Security Disability and Medicaid waivers; long term care homes within private homes open to caring for adults with disabilities; and supervised group living in homes or apartments staffed by professionals; and in the most difficult circumstances, long-term care facilities.

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