Episode 187: Autism Fundamentals

Future Dr. Ayyagari explains the recommended screenings for autism, how to diagnose it and sheds some light on the management. Dr. Arreaza mentions the Savant Syndrome and the need to recognize ASD as a spectrum and not a “black or white” condition.

Written by Tejasvi Ayyagari, MSIV, Ross University School of Medicine. Comments by Hector Arreaza, MD.

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Introduction:

Autism, or Autism Spectrum Disorder (ASD), is a neurodevelopmental disorder that affects how a person thinks, interacts with others, and experiences the world. It is characterized by deficits in social communication and interaction and restricted and/or repetitive behavior patterns, interests, and activities. Autism is considered a "spectrum" disorder because it encompasses a wide range of symptoms, skills, and levels of functioning, including Asperger’s, Auditory processing disorder, Rett syndrome, etc. The exact causes of autism are not fully understood, but many question genetic and environmental factors at play.  

What are some of the main characteristics of autism?

1. Social difficulties: Individuals with autism may experience trouble understanding social cues or body language, leading to difficulty forming meaningful relationships. Children may display little interest in playing with others or engage in limited imaginative play (doll playing, pretend playing).

2. Repetitive behaviors and interests: People with autism may engage in repetitive movements with their arms or hands and focus intensely on specific topics or activities. They may become distressed when routines are disrupted.

3. Overstimulation: Individuals with autism may find multiple stimuli too overwhelming and gravitate towards either minimal stimulation or certain appealing stimulations best suited for their needs. 

4. Intellectual variation: People with autism can have varying intellectual abilities, from severe mental disabilities to those who excel in specific disciplines, such as accounting or history (savants). 

Savant syndrome. It is a syndrome popularized by movies, TV shows and social media. The Good Doctor is a good example of it. Savant syndrome manifests by having a superior specific set of skills in a developmentally disabled person. Savants are like human supercomputers—while the rest of us are buffering, they can recall in 4K. We must not assume all people with autism are savants, unless we are particularly told about their exceptional talent.

Another famous person with Savant syndrome was Kim Peek, portrayed by Dustin Hoffman in the 1988 movie The Rain Man. Kim Peek was later diagnosed with the FG syndrome and not autism spectrum disorder.

What is the prevalence of autism?

Worldwide, it is estimated that about 1 in 100 to 1 in 150 children are diagnosed with autism, though this number can vary based on the country and diagnostic practices. In the United States, according to the CDC, as of 2023, approximately 1 in 36 children are diagnosed with autism.  Some studies even claim that boys are 4x more likely to be diagnosed with autism than girls.

It is a very prevalent condition, and we have some recommendations about screenings. I feel like most parents have a “feeling” that something may be wrong with their kid, but I think most parents may feel that way, especially when they have their first baby.

The American Academy of Pediatrics recommends that all children should be screened for autism at 18 months and 24 months of age during routine well-child visits, using standardized tools like the Modified Checklist for Autism in Toddlers (M-CHAT) or other validated autism screening tools.   

MCHAT is a two-step screening that requires a second visit if the first test shows moderate risk. Also, we must continue to follow up the development of kids in well child visits and be on the lookout for signs of autism, even outside of the recommended screening ages. 

How is autism diagnosed?

Autism is typically diagnosed between the ages of 2 and 3, but it is often identified in early childhood. According to the DSM-5, there are two main clusters of symptoms for autism.

- Cluster A: Involves social communication and interaction impairments in various settings.

- Cluster B: Involves repetitive behavioral patterns, limited areas of interest, and atypical sensory behaviors/experiences.

According to the DSM-5-TR criteria, a diagnosis of ASD requires that the following criteria are met:

All three of the following Cluster A symptoms:

- Social-emotional reciprocity: Difficulty engaging in mutually enjoyable conversations or interactions due to a lack of shared interests or understanding of others' thoughts and feelings.

- Nonverbal communicative behaviors to socialize, such as using aspects with eye contact, facial expressions, gestures, and tone of voice, which makes communication more difficult.

- Difficulty developing, understanding, and maintaining relationships: This could manifest as difficulty adjusting behavior to social settings, an inability to show expected social behaviors, a lack of interest in socializing, or difficulty making friends despite wanting to.

Two or more of the following Cluster B symptoms:

- Stereotyped or repetitive movements, use of objects, or speech: Echolalia or flapping the hands repeatedly.

- Persistent sameness, where patients require adherence to routines or ritualized patterns of behavior, such as difficulty with transitions or a need to eat the same food each day.

- Highly restricted, fixated interests: This may include an intense focus on specific objects (trains) or topics (such as dinosaurs or natural disasters).

- Sensory response variations, including heightened or diminished responses to sensory input, such as adverse reactions to sounds, indifference to temperature, or excessive touching/smelling of objects.

Additionally, the symptoms must:

- Significantly impair social, academic/occupational, and daily functioning,

- Not be better explained by intellectual disability or global developmental delay, and

- Be present in early childhood. (However, symptoms may only become apparent when social demands exceed the child's capacity; in later life, they may be masked by learned strategies.)

How can we go about managing autism?

There is no "cure" for Autism. However, various therapies can help manage the condition. Treatment tailors to the individual's age, strengths, and weaknesses. Our main goal is to maximize function, encourage independence, and improve the patient's overall quality of life.

During office visits as primary care doctors, we have to use different strategies to make the visits more focused on individual needs, making sure the caregivers are involved as well as the patient. 

We communicate with caregivers before and during the visit to optimize patient compliance, allow enough time for the family/caregiver to talk about the patient's history, allow the patient to play with instruments/materials provided, and use simple instructions. Sometimes, the physical exam can be the most challenging aspect of the exam because it is so overstimulating for the patient. Hence, allowing enough time for the patient to be comfortable is key.

This is a multidisciplinary management that includes, family med, pediatricians, social workers, behavioral health, etc.

Personal experiences interacting and managing patients with autism in the clinic or in the hospital:

Dr. Arreaza: I have seen a lot of adult patients with autism.I see a challenge commonly found is agitation and the use of medications. I prefer to defer any prescriptions to psychiatry, if needed, but behavioral concerns can be successfully managed by behavioral health with participation of family, caregivers, and especial education.

TJ:  Personal story with Auditory Processing Disorder (APD).

Conclusions: 

Dr. Arreaza: Autism is a spectrum, not all persons with ASD are the same. They are not all geniuses, and they are not all developmentally delayed, they are not just black or white, but there are several shades of gray in between. 

TJ:  Not one doctor or one family will take care all responsibility, it requires a multifaceted approach.People with autism can live a long and meaningful lives.

Thank you for listening to this week’s episode on Autism. We will see you next time.  Have a nice day.

Even without trying, every night you go to bed a little wiser. Thanks for listening to Rio Bravo qWeek Podcast. We want to hear from you, send us an email at [email protected], or visit our website riobravofmrp.org/qweek. See you next week! 

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References:

1. Centers for Disease Control and Prevention. Data and statistics on autism spectrum disorder. CDC.gov. Accessed on March 13, 2025. https://www.cdc.gov/autism/data-research/index.html
2. Weissman Hale, Laura, “Autism spectrum disorder in children and adolescents: Overview of management and prognosis,” UpToDate, accessed on March 13, 2025. https://www.uptodate.com/contents/autism-spectrum-disorder-in-children-and-adolescents-overview-of-management-and-prognosis.
3. Volkers, N. (2016). Early Signs. The ASHA Leader.https://doi.org/10.1044/leader.ftr1.21042016.44
4. Urquhart-White, Alaina, “'The Good Doctor' Puts The Spotlight On A Rare, Mysterious Syndrome,” Bustle, September 25, 2017. https://www.bustle.com/p/whats-real-about-savant-syndrome-is-something-the-good-doctor-should-explore-2439405
5. Theme song, Works All The Time by Dominik Schwarzer, YouTube ID: CUBDNERZU8HXUHBS, purchased from https://www.premiumbeat.com/.