Autism Spectrum Disorder (ASD)

Overview

Autism Spectrum Disorder (ASD) is a developmental condition that has been identified in approximately 1 in 36 children.[1] ASD symptoms typically present in early childhood, however, it is possible for adults to go undiagnosed. Common symptoms of autism include:

Difficulty socializing and communicating with others
Restricted and/or repetitive patterns of behavior, interests or activities
Delayed language development
Unusual and intense reactions to sounds, smells, tastes, textures, lights and/or colors

ASD is considered a spectrum because there is a large variety of symptoms that can present themselves with different severities. Every person with autism has unique needs that need individualized treatment plans.[2,3]

Symptoms

ASD presents as a variety of signs and symptoms with various degrees of impairment, thus no two autistic people have identical symptoms.[4] Children diagnosed with Autistic Disorder meet the full diagnostic criteria and typically have the most severe form. PDD-NOS is a milder form that presents with some symptoms of ASD, but not enough to be diagnosed with Autistic Disorder. The least severe subtype of ASD is what was formerly referred to as Aspergers, which shows as social impairments and autistic behaviors, but no intellectual disability or delay in early language development.[5] According to Healthline (2022), people who have mild forms of ASD may enter adulthood without a diagnosis, feeling like something is “different” about them but not knowing why.[6]

Some symptoms of ASD that may show at any age include:[7]

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 (e.g., flapping, rocking or spinning)
Unusual and intense reactions to sounds, smells, tastes, textures, lights and/or colors

ASD symptoms in children may present as:[8]

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)

ASD symptoms in adults may present as:[9]

Social communication behaviors
Trouble reading social cues
Participating in conversation is difficult
Trouble relating to others’ thoughts or feelings
Unable to read body language and facial expressions well (e.g., not able to tell whether someone is pleased or unhappy)
Use of flat, monotone, or robotic speaking patterns that don’t communicate emotions
Inventing your own descriptive words and phrases
Understanding figures of speech and turns of phrase (like “The early bird catches the worm” or “Don’t look a gift horse in the mouth”) is difficult
Don’t like to look at someone’s eyes when talking to them
Talk in the same patterns and tone regardless of environment
Talk a lot about one or two favorite topics
Making noises in places where quiet is expected
Building and maintaining close friendships is difficult
Restrictive and repetitive behaviors
Trouble regulating emotions and responses to them
Changes in routines and expectations cause strong feelings that may include outbursts or meltdowns
Responding with emotional breakdown when something unexpected happens
Getting upset when your things are moved or rearranged
Have rigid routines, schedules, and daily patterns that must be maintained no matter what
Caring and being knowledgeable about a few specific areas of interest (like a historical period, book series, film, industry, hobby, or field of study)
Are very successful in one or two challenging academic subject areas. Some autistic people may do very well in some areas while also having great difficulty doing well in others.
Hyper or under-sensitivity to sensory input (e.g., pain, sound, touch, or smell)
Feeling clumsy or having difficulty with coordination
Prefer to work and play alone
Perceived as eccentric or an academic by others
Able to learn complex details and remember them for long periods of time
Learn well visually or by listening

Diagnosis

Due to the variety of signs and symptoms associated with autism, there are multiple diagnostic exams to help diagnose an individual’s unique presentation of the disorder. The American Academy of Pediatrics recommends that all children be screened for autism at their 18- and 24-month well-child checkup. If you are not sure if your child has been screened, you may ask a medical provider for a screening.[10] Since ASD is typically diagnosed during childhood, many diagnostic exams are tailored towards children. There are currently no ASD diagnostic criteria specifically for adults, however, there is diagnostic criteria applicable for a wide age range. If you are interested in being evaluated for autism, begin with your family doctor, who will first evaluate you to be certain there is no underlying physical illness accounting for your behaviors. Your doctor may then refer you to a psychiatrist or psychologist for an in-depth assessment.[1`]

ASD diagnostic examples include:[12,13]

Autism Diagnostic Interview-Revised (ADI-R) is an extended structured interview conducted with a caregiver to obtain the developmental history and current behaviors of an individual aged 2 years or older. The test focuses on the functional domains: language/communication; reciprocal social interactions; and restricted, repetitive and stereotyped behaviors and interests.
Autism Diagnostic Observation Schedule (ADOS) quantifies ASD severity with relative independence from age and IQ across age span, developmental levels and language skills.
Aberrant Behavior Checklist (ABC) can be used for individuals between 5 and 54 years of age to evaluate maladaptive behaviors. It tests the subscales of irritability, agitation, crying, lethargy, social withdrawal, stereotypic behavior, hyperactivity, noncompliance, and inappropriate speech.
Childhood Autism Rating Scale Second edition (CARS2) is a behavior rating with two forms used to identify and distinguish children with ASDs from other developmental disorders, as well as determine ASD symptom severity.
Child Behavior Checklist (CBCL) is a standard measure of externalizing (e.g., aggressive, hyperactive, noncompliant, and undercontrolled) and internalizing (e.g., anxious, depressive, and overcontrolled) behavior problems.
Vineland-II Adaptive Behavior Scales (VABS) tests for adaptive function in children less than 6 years old. VABS consists of four major domains: communication, socialization, daily living skills, and motor skills.
Social Responsiveness Scale (SRS) assesses severity of symptoms associated with ASDs along a continuum for children aged 4-18 years. SRS provides a picture of a child’s social impairment by assessing social awareness, social information processing, capacity for reciprocal social communication, social anxiety/avoidance, and autistic preoccupations and traits.
Repetitive Behavior Scale- Revised (RBS-R) measures both the presence and severity of repetitive behavior, and provides a continuous measure of the full spectrum of repetitive behaviors for children.
Modified Checklist for Autism in Toddlers (M-CHAT) is a list of informative questions about a child where the answers can show whether they should be further evaluated by a specialist.
Screening Tool for Autism in Two-Year-Old’s (STAT) is a set of tasks that children perform to assess key social and communicative behaviors, including imitation, play, and directing attention.
Social Communication Questionnaire (SCQ) is a series of questions to determine if further testing is needed for a child aged 4 years or older.
Communication and Symbolic Behavior Scales (CSBS) uses parent interviews and direct observation of natural play to collect information on communication development, including gestures, facial expressions and play behaviors.

Causes

Scientists have not discovered a cause of autism, but they believe several factors may contribute. Genetic factors have been shown to play a role in autism - if one child in a family has ASD, another sibling is more likely to develop it, too. Similarly, identical twins are likely to both develop ASD, if it is present. Scans also reveal that people on the autism spectrum have certain abnormalities of the brain’s structure and chemical function. The National Alliance on Mental Illness (n.d.) also adds that prenatal factors (e.g., mother’s health and other environmental factors) may play a contributing role to ASD.[14]

Complications

Due to the way autism presents, some adults with autism may have difficulty managing their finances, finding employment, and taking part in social interactions. Multiple health conditions are also more common in people diagnosed with ASD.

Possible comorbid disorders include:[15,16]

Many children with ASD have some degree of intellectual impairment. Higher levels of cognitive- and language-skill impairment often have profound impacts on daily functioning.
1-in-4 children with autism have seizures, often starting either in early childhood or during the teen years. Seizures may result in a short-term loss of consciousness, convulsions and staring spells. An electroencephalogram (EEG), a nonsurgical test that records electrical activity in the brain, can help confirm whether a child is having seizures.
Fragile X syndrome is a genetic disorder that often results in ASD-like symptoms. Roughly1-in-3 children who have Fragile X syndrome also meet the diagnostic criteria for ASD. Approximately 1-in-25 children diagnosed with ASD have the gene mutation that causes Fragile X syndrome. Because this disorder is inherited, children with autism should be checked for Fragile X, especially if the parents want to have more children.
Tuberous sclerosis is a rare genetic disorder that causes noncancerous tumors to grow in the brain and other vital organs. Tuberous sclerosis occurs in 1-4% of people with ASD.
Some parents of children with autism report that their child has frequent gastrointestinal (GI) or digestion problems including stomach pain, diarrhea, constipation, acid reflux, vomiting or bloating.
Research shows that children with ASD are at higher risk to develop mental health conditions compared to children without autism. Specific conditions children with ASD are more likely to develop include: Anxiety Disorders, Attention Deficit Hyperactivity Disorder (ADHD), and Depression.
Rett syndrome is a developmental disorder that shows as a regression in development. Children with Rett syndrome develop normally for 6-18 months before regression and ASD-like symptoms appear. However, after this period, most children with Rett syndrome improve their social communication skills, and autistic features are no longer a major area of concern.

Treatment

Current treatments for ASD work to reduce the symptoms that interfere with daily functioning and quality of life. As a result, seeking treatment can help people with autism lead healthier and more fulfilling lives. Since each presentation of autism is unique, there are varied treatment needs based on the treatment plans catered toward the individual. Some current treatment options include:[17,18]

Applied Behavior Analysis (ABA) therapy is often the starting point in treating autistic children with more severe symptoms, most children starting when they are between 2 and 6 years old. ABA works to treat specific and immediate behavioral issues associated with autism spectrum disorder by encouraging desiring behaviors and discouraging undesired behaviors.
Cognitive Behavior Therapy (CBT) addresses the mental health problems that accompany autism and is more appropriate for individuals aged 7 and up. Studies on children with mild symptoms of ASD show that CBT can cause gradual improvement in communication and other social skills.
Speech and Language Therapy helps to improve the person’s understanding and use of speech and language. People with ASD can communicate verbally, with signs, gestures, pictures, or electronic communication devices.
Occupational Therapy teaches skills that help the person live as independently as possible (e.g., dressing, eating, bathing, and relating to others).
Social-relational treatments work to improve social skills and build emotional bonds.
While there are no medications that treat the core symptoms of ASD, there is medication to treat co-occurring symptoms (e.g., excessively-high energy levels, inability to focus, or self-harming behavior); additionally, new treatments are currently being studied.

If you think you or your child may have autism spectrum disorder, please speak with your medical provider to obtain a screening.

Contributed by: Maria Karla Bermudez

Editor: Jennifer (Ghahari) Smith, Ph.D.

References

1 Data & Statistics on Autism Spectrum Disorder. (2023, April 4). Centers for Disease Control and Prevention. Retrieved April 20, 2023, from https://www.cdc.gov/ncbddd/autism/data.html

2 Autism. NAMI. (n.d.). Retrieved March 6, 2023, from https://www.nami.org/Learn-More/Mental-Health-Conditions/Related-Conditions/Autism#:~:text=Children%20with%20autism%20can%20also,conditions%20than%20children%20without%20autism

3 Learn the signs of autism. Autism Speaks. (n.d.). Retrieved March 6, 2023, from https://www.autismspeaks.org/signs-autism

4 Gotter, A. (2022, July 12). Autism in adults: Diagnosis, treatment, and resources. Healthline. Retrieved March 6, 2023, from https://www.healthline.com/health/autism-in-adults

5 Payakachat, N., Tilford, J. M., Kovacs, E., & Kuhlthau, K. (2012). Autism spectrum disorders: a review of measures for clinical, health services and cost-effectiveness applications. Expert review of pharmacoeconomics & outcomes research, 12(4), 485–503. https://doi.org/10.1586/erp.12.29

6 Gotter (2022)

7 Autism Speaks

8 Gotter (2022)

9 Ibid.

10 How is autism diagnosed: Screening & diagnosis. Autism Speaks. (n.d.). Retrieved March 6, 2023, from https://www.autismspeaks.org/screening-how-is-autism-diagnosed

11 Gotter (2022)

12 Payakachat, et al. (2012)

13 Autism Speaks

14 NAMI

15 Ibid.

16 Payakachat, et al. (2012)

17 Schorr, B. (2021, April 28). Cognitive behavioral therapy for autism. Hidden Talents ABA. Retrieved March 6, 2023, from https://hiddentalentsaba.com/cognitive-behavioral-therapy-for-autism/

18 Centers for Disease Control and Prevention. (2022, March 9). Treatment and intervention services for autism spectrum disorder. Centers for Disease Control and Prevention. Retrieved March 6, 2023, from https://www.cdc.gov/ncbddd/autism/treatment.html