Autism Spectrum
Disorder
What is Autism Spectrum Disorder (ASD)?
Autism Spectrum Disorder (ASD), referred to as Autism, is a complex, lifelong developmental condition that typically appears during early childhood and can impact a person’s social skills, communication, relationships, and self-regulation. The Autism experience is different for everyone. It is defined by a certain set of behaviors and is often referred to as a “spectrum condition” that affects people differently and to varying degrees.
While there is no known single cause of Autism, early diagnosis helps a person receive resources to support the choices and opportunities needed to live fully.
Signs & Characteristics
Autism impacts an individual throughout their lifespan. However, research shows that early diagnosis can improve their quality of life. The behaviors of Autism may be apparent in infancy, but they usually become clearer during early childhood. As part of a regular health visit, your child’s doctor should perform developmental screenings focused on Autism. This screening is recommended at ages 18 and 24 months for all children.
Your doctor will encourage you to ask specific questions about your child’s developmental progress. The National Institute of Child Health and Human Development (NICHD) developed a detailed list of behaviors, listed in four categories: communication, social behavior, stereotyped behavior, and other behavior. Additionally, the Centers for Disease Control and Prevention (CDC) developed a list of Signs and Symptoms, which can be found here.
- Prefers solitary or parallel play rather than engaging in associative or cooperative play with other children
- Preference for predictable, structured play over spontaneous or make-believe play
- May not respond to name being called
- Struggles to make eye contact to communicate interests and/or needs
- Develops speech later than typical or not at all (nonspeaking)
- Repetition in language or movement, such as repeating the same word or sounds, hand flapping, or any repeated movement
- Atypical nonverbal communication, including avoiding eye contact, giving few facial expressions, or having a monotone voice
- Extremely distressed by changes, including new foods or changes in schedule or routine
- Strong, persistent interest in a specific topic, part of a toy, or item
These characteristics vary widely and do not necessarily mean your child is autistic. However, if your child is showing these behaviors, a screening is encouraged. Many families start by voicing their concerns with their child’s primary physician, with referrals being made to a specialist for further evaluation. For more information, visit our Screening & Diagnosis page.
Causes & Factors
There is no known single cause for Autism, but it is generally accepted that differences in brain structure or function cause it. Brain scans show differences in the shape and structure of the brain in Autistic people compared to neurotypical development. Researchers do not know the exact cause of Autism but are investigating several theories, including the links among heredity, genetics, and medical problems.
In many families, there appears to be a pattern of Autism or related disabilities, further supporting the theory that the disorder has a genetic basis.
While no one gene has been identified as causing Autism, researchers are searching for irregular segments of genetic code that people with Autism may have inherited. It also appears that some people are born with a susceptibility to Autism, but researchers have not yet identified a single “trigger” that causes Autism to develop.
Other researchers are investigating the possibility that under certain conditions, a cluster of genes may affect brain development, resulting in Autism. Still, other researchers are investigating complications during pregnancy or delivery and environmental factors such as viral infections, metabolic imbalances, and chemical exposure.
Genetic Vulnerability
Autism tends to occur more frequently than expected among individuals who have certain medical conditions, including fragile X syndrome (FXS), tuberous sclerosis, congenital rubella syndrome (CRS), and untreated phenylketonuria (PKU). Some harmful substances ingested during pregnancy also have been associated with an increased likelihood of Autism.
- As of 2023, the CDC reports that in the United States, 1 in 36 children have Autism; in California, the number is 1 in 22.
- People with Autism come from all racial, ethnic, and socioeconomic groups.
- ASD is about 4 times more common among boys than among girls.
- Autism greatly varies from person to person (no two people with autism are alike). Services for children and adults with Autism must be carefully individualized.
- Self-advocacy is an important skill that is especially important for autistic individuals. In order to be a great self-advocate, people first must know what their strengths are as well as what accommodations serve them the best. With that knowledge, they can be their own best advocate with family, school, or community.
Autism is characterized in the American Psychiatric Association’s Diagnostic and Statistical Manual (DSM-V), which is used by clinicians to diagnose Autism by: Persistent differences in communication, interpersonal relationships, and social interaction across different environments. What this can look like:
- Being nonverbal, nonspeaking, or having atypical speech patterns, having trouble understanding nonverbal communication, difficulty making and keeping friends, difficulty maintaining typical back-and-forth conversational style.
Restricted and repetitive behavior, patterns, activities and interests. What this can look like:
- Repeating sounds or phrases (echolalia), repetitive movements, preference for sameness and difficulty with transition or routine, rigid or highly restricted and intense interests, extreme sensitivity to, or significantly lower sensitivity to, sensory stimuli.
Neurodiversity addresses the concept that humans are not neurologically ‘one size fits all’. This means that it recognizes everyone’s unique abilities and considers neurological differences, like autism and ADHD, to be the result of variations in the human genome. It is the idea to see a neurological difference as unique ways of thinking and experiencing the world.
Although neurodiversity primarily refers to autism, there are also conversations around neurodiversity and Tourette’s syndrome, ADHD, epilepsy, dyslexia, and bipolar disorder.
The term was coined by an Australian sociologist, Judy Singer, who had autism herself, in the 1990s. It was popularized by American journalist Howard Blume.
There can be controversy within the autism community around this term. The Autism Society Inland Empire believes that:
- ALL autistic people should receive more equal treatment.
- ALL people with autism have gifts and talents.
- Society should allow for autistic differences and create more equal opportunities.
Related & Co-Occurring Conditions
While there is not a single behavioral or communication test that can detect Autism, several Autism-specific tools are now being used for formal diagnosis. These include the Autism Diagnostic Observation Schedule, Second Edition (ADOS™-2), the Autism Diagnostic Interview (ADI), the Screening Tool for Autism in Toddlers (STAT), the Childhood Autism Rating Scales (CARS), and the Tele-ASD-Peds for diagnosis for use in telehealth.
All of these tests should be used as part of a larger assessment, and not just on their own, as the determination of Autism is best completed with multiple sources of information.
Research studies have frequently used inappropriate IQ tests, such as verbal tests with nonverbal individuals, and in some cases have estimated intelligence level without any objective evidence. Tests that do not require language skills, such as the Test of Nonverbal Intelligence (TONI), can offer more accurate information about the person.
Many people who experience Autism have sleep challenges. Night waking may be due to gastrointestinal issues, allergies, environmental intolerances, seizures or the effects of medications. Other potential causes are sleep apnea (pauses in breathing when the airway becomes obstructed during sleep), sleep terrors or confusional arousals. Individuals with sensory processing difficulties may have more problems falling asleep and increased periods of night waking.
It is estimated that around 30 percent of people with Autism develop epilepsy, some in early childhood and others as they go through hormone level changes in puberty. Suspected seizures should be confirmed by electroencephalogram (EEG) and treated with prescribed anticonvulsant medications.
Children with a dual diagnosis of Autism and a sensory impairment face many possible paths. If the child is born deaf/hard of hearing or blind/visually impaired, that diagnosis is usually made early on, and Autism behaviors may be mistaken for a reaction to the sensory loss. Conversely, if a child with Autism has progressive hearing and visual impairments, his or her adaptation to the sensory loss may be misunderstood as a behavior of Autism. For more information, visit the Nebraska Center for the Education of Children who are Blind or Visually Impaired or this article about Autism and deafness. About 30 percent of children receiving education related to deafness/hard of hearing and blindness/visual impairment are also identified as having Autism. Every child should be able to enter his/her education program in the best aural and visual health possible, and should be monitored and tested to ensure continued health and care. For more in-depth information on hearing and vision screenings for people with Autism, see this article from the Autism Advocate. Families can feel overwhelmed and isolated while searching for information. The Autism Society offers a connection to the resources and support families need.
According to an article published by Frontiers in Neuroscience, scientists widely accept the gut-brain axis theory, which states that the gut and the brain communicate and influence each other (Bienenstock et al., 2015; Mayer et al., 2015; Cryan et al., 2019).
Despite this connection, there has yet to be a proven cause-effect relationship between Autism and GI symptoms. The brain-belly connection of gut microbiota remains an area of research for those concerned with both GI and immune connections to neurological differences and disorders.
These are only a few examples of sensory experiences. Sensory needs can range in severity and change over time. Consult an occupational therapist for support in evaluating and supporting sensory processing and integration.
Understanding the Dual Diagnosis: Down syndrome & Autism Spectrum Disorder (DS-ASD)
AUTISM IN INDIVIDUALS WITH DOWN SYNDROME IS 30 % HIGHER THAN THE GENERAL POPULATION , ESPECIALLY AMONGST MALES WITH DOWN SYNDROME
Recent studies report that about 16-19 % of individuals with Down Syndrome also have Autism . Diagnosis of DS – ASD is more difficult to make in individuals with Down Syndrome , as ASD presents differently in individuals with Down Syndrome than it does in their peers with ASD alone .
A diagnosis of Autism Spectrum Disorder is based on symptoms in three domains : social impairments , communication impairments , and repetive behaviors . Diagnosis should only be carried out by experienced clinicians using standardized assessments and comprehensive evaluations .
Early diagnosis of ASD individuals with Down Syndrome and therapeutic intervention is key to supporting those with DS – ASD.
Therapies for individuals with the dual diagnosis of DS – ASD may include : behavioral / ABA therapy , extensive speech therapy , feeding therapy , occupational therapy , and vision therapy.
Individuals with the dual diagnosis of DS – ASD often exhibit these
- Develop atypical behaviors early
- May have associated medical conditions such as seizures and hypotonia
- Exhibit repetitive behaviors
- Expressive language is severely delayed or absent
- Exhibit stimulatory behaviors ( hand flapping , rocking , object fascination )
- Early developmental regression
- Exhibit self – injurious behaviors
- Higher incidence of severe cognitive impairments
- Higher incidence of severe aggressive behavior
The Autism Society Inland Empire welcomes and supports all individuals with DS – ASD and their families.
