What is Autism Spectrum Disorder?

In the therapy world, we get this question a lot. When you look up the definition of Autism Spectrum Disorder it says “autism spectrum disorder is a condition related to brain development that impacts how a person perceives and socializes with others, causing problems in social interaction and communication. The disorder also includes limited and repetitive patterns of behavior.”

That is a very broad definition and may not give you a good idea of what exactly it looks like in a person. There are many subtypes of autism and a very broad spectrum. There can be people with low functioning autism as well as high functioning autism and then there are those in the middle. It is estimated to effect 1 in 54 children in the United States.

Several factors may influence the development of autism, and it is often accompanied by sensory sensitivities and medical issues such as gastrointestinal (GI) disorders, seizures or sleep disorders, as well as mental health challenges such as anxiety, depression and attention issues.

Signs of autism usually appear by age 2 or 3. Some associated development delays can appear even earlier, and often, it can be diagnosed as early as 18 months. Research shows that early intervention leads to positive outcomes later in life for people with autism.

You might be wondering what exactly causes autism? There is no one cause of it. Research suggests that autism develops from a combination of genetic and non-genetic, or environmental, influences.

These influences appear to increase the risk that a child will develop autism. However, it’s important to keep in mind that increased risk is not the same as cause. For example, some gene changes associated with autism can also be found in people who don’t have the disorder. Similarly, not everyone exposed to an environmental risk factor for autism will develop the disorder. In fact, most will not.

Autism’s genetic risk factors

Research tells us that autism tends to run in families. Changes in certain genes increase the risk that a child will develop autism. If a parent carries one or more of these gene changes, they may get passed to a child (even if the parent does not have autism). Other times, these genetic changes arise spontaneously in an early embryo or the sperm and/or egg that combine to create the embryo. Again, the majority of these gene changes do not cause autism by themselves. They simply increase risk for the disorder.

Autism’s environmental risk factors

Research also shows that certain environmental influences may further increase – or reduce – autism risk in people who are genetically predisposed to the disorder. Importantly, the increase or decrease in risk appears to be small for any one of these risk factors. 

Increased risk

  • Advanced parent age (either parent)
  • Pregnancy and birth complications (e.g. extreme prematurity [before 26 weeks], low birth weight, multiple pregnancies [twin, triplet, etc.])
  • Pregnancies spaced less than one year apart

Decreased risk

  • Prenatal vitamins containing folic acid, before and at conception and through pregnancy 

No effect on risk

  • Vaccines. Each family has a unique experience with an autism diagnosis, and for some it corresponds with the timing of their child’s vaccinations. At the same time, scientists have conducted extensive research over the last two decades to determine whether there is any link between childhood vaccinations and autism. The results of this research are clear: Vaccines do not cause autism. The American Academy of Pediatrics has compiled a comprehensive list of this research. You can find the link to that below:

https://www.healthychildren.org/English/safety-prevention/immunizations/Pages/Vaccine-Studies-Examine-the-Evidence.aspx

One of the most important things you can do as a parent or caregiver is to learn the early signs of autism and become familiar with the typical developmental milestones that your child should be reaching.

What are the signs of autism?

The autism diagnosis age and intensity of autism’s early signs vary widely. Some infants show hints in their first months. In others, behaviors become obvious as late as age 2 or 3.

Not all children with autism show all the signs. Many children who don’t have autism show a few. That’s why professional evaluation is crucial.

The following may indicate your child is at risk for an autism spectrum disorder. If your child exhibits any of the following, ask your pediatrician or family doctor for an evaluation right away:

By 6 months:

Few or no big smiles or other warm, joyful and engaging expressions

Limited or no eye contact

By 9 months:

  • Little or no back-and-forth sharing of sounds, smiles or other facial expressions

By 12 months:

  • Little or no babbling
  • Little or no back-and-forth gestures such as pointing, showing, reaching or waving
  • Little or no response to name

By 16 months:

  • Very few or no words

By 24 months:

  • Very few or no meaningful, two-word phrases (not including imitating or repeating)

At any age

  • Loss of previously acquired speech, babbling or social skills
  • Avoidance of eye contact
  • Persistent preference for solitude
  • Difficulty understanding other people’s feelings
  • Delayed language development
  • Persistent repetition of words or phrases (echolalia)
  • Resistance to minor changes in routine or surroundings
  • Restricted interests
  • Repetitive behaviors (flapping, rocking, spinning, etc.)
  • Unusual and intense reactions to sounds, smells, tastes, textures, lights and/or colors

After learning all of this information you might be wondering…is there a cure for autism or what is the treatment for autism?

The short answer is no, autism is not curable. Depending on the severity of it and when it is diagnosed a child can receive early intervention to improve their functional ability to participate in everyday activities and tasks as they go through life.

It’s also important to seek an assessment from an autism specialist because they are more likely to get the diagnosis right the first time. Sometimes when children get diagnosed early, they could potentially be misdiagnosed and as they grow up their diagnosis might change. This does not mean that they grew out of autism, it more than likely means that they never had autism to start with.

Diagnosis in Young Children

Diagnosis in young children is often a two-stage process.

Stage 1: General Developmental Screening During Well-Child Checkups

Every child should receive well-child check-ups with a pediatrician or an early childhood health care provider. The American Academy of Pediatrics recommends that all children be screened for developmental delays at their 9-, 18-, and 24- or 30-month well-child visits and specifically for autism at their 18- and 24-month well-child visits. Additional screening might be needed if a child is at high risk for ASD or developmental problems. Those at high risk include children who have a family member with ASD, have some ASD behaviors, have older parents, have certain genetic conditions, or who were born at a very low birth weight.

Parents’ experiences and concerns are very important in the screening process for young children. Sometimes the doctor will ask parents questions about the child’s behaviors and combine those answers with information from ASD screening tools, and with his or her observations of the child.

Children who show developmental problems during this screening process will be referred for a second stage of evaluation.

Stage 2: Additional Evaluation

This second evaluation is with a team of doctors and other health professionals who are experienced in diagnosing ASD. 

This team may include:

  • A developmental pediatrician—a doctor who has special training in child development
  • A child psychologist and/or child psychiatrist—a doctor who has specialized training in brain development and behavior
  • A neuropsychologist—a doctor who focuses on evaluating, diagnosing, and treating neurological, medical, and neurodevelopmental disorders
  • A speech-language pathologist—a health professional who has special training in communication difficulties

The evaluation may assess:

  • Cognitive level or thinking skills
  • Language abilities
  • Age-appropriate skills needed to complete daily activities independently, such as eating, dressing, and toileting

Because ASD is a complex disorder that sometimes occurs along with other illnesses or learning disorders, the comprehensive evaluation may include:

  • Blood tests
  • Hearing test

The outcome of the evaluation will result in a formal diagnosis and recommendations for treatment.

Diagnosis in older children and adolescents

ASD symptoms in older children and adolescents who attend school are often first recognized by parents and teachers and then evaluated by the school’s special education team. The school’s team may perform an initial evaluation and then recommend these children visit their primary health care doctor or doctors who specialize in ASD for additional testing.

Parents may talk with these specialists about their child’s social difficulties including problems with subtle communication. These subtle communication issues may include problems understanding tone of voice, facial expressions, or body language. Older children and adolescents may have trouble understanding figures of speech, humor, or sarcasm. Parents may also find that their child has trouble forming friendships with peers.

Diagnosis in adults

Diagnosing ASD in adults is often more difficult than diagnosing ASD in children. In adults, some ASD symptoms can overlap with symptoms of other mental-health disorders, such as anxiety or attention-deficit/hyperactivity disorder (ADHD).

Adults who notice the signs and symptoms of ASD should talk with a doctor and ask for a referral for an ASD evaluation. While testing for ASD in adults is still being refined, adults can be referred to a neuropsychologist, psychologist, or psychiatrist who has experience with ASD. The expert will ask about concerns, such as:

  • Social interaction and communication challenges
  • Sensory issues
  • Repetitive behaviors
  • Restricted interests

Information about the adult’s developmental history will help in making an accurate diagnosis, so an ASD evaluation may include talking with parents or other family members.

Getting a correct diagnosis of ASD as an adult can help a person understand past difficulties, identify his or her strengths, and obtain the right kind of help. Studies are now underway to determine the types of services and supports that are most helpful for improving the functioning and community integration of transition-age youth and adults with ASD.

Treatments and Therapies

Treatment for ASD should begin as soon as possible after diagnosis. Early treatment for ASD is important as proper care can reduce individuals’ difficulties while helping them learn new skills and make the most of their strengths.

The wide range of issues facing people with ASD means that there is no single best treatment for ASD. Working closely with a doctor or health care professional is an important part of finding the right treatment program.

Medication

A doctor may use medication to treat some symptoms that are common with ASD. With medication, a person with ASD may have fewer problems with:

  • Irritability
  • Aggression
  • Repetitive behavior
  • Hyperactivity
  • Attention problems
  • Anxiety and depression

Behavioral, psychological, and educational therapy

People with ASD may be referred to doctors who specialize in providing behavioral, psychological, educational, or skill-building interventions. These programs are typically highly structured and intensive and may involve parents, siblings, and other family members. Programs may help people with ASD:

  • Learn life-skills necessary to live independently
  • Reduce challenging behaviors
  • Increase or build upon strengths
  • Learn social, communication, and language skills

Other resources

There are many social services programs and other resources that can help people with ASD. Here are some tips for finding these additional services:

  • Contact your doctor, local health department, school, or autism advocacy group to learn about special programs or local resources.
  • Find an autism support group. Sharing information and experiences can help individuals with ASD and/or their caregivers learn about treatment options and ASD-related programs.
  • Record conversations and meetings with health care providers and teachers. This information helps when it’s time to make decisions about which programs might best meet an individual’s needs.
  • Keep copies of doctors' reports and evaluations. This information may help an individual qualify for special programs.

If you have further questions, please comment below. If you are concerned about your child having autism and want to get them the intervention they need to assist them, please reach out to your pediatrician to assist you with the next step.

What is Autism Spectrum Disorder?