#53: Autism Spectrum Disorder – Let’s (m-) CHAT About It!

June 15, 2022 | By Sam Masur

Summary

Anxious about autism? Join us for an exciting (m-)CHAT with Dr. Christopher Hanks, medical director of the OSU Center for Autism Services and Transition! Dr. Hanks provides practice pearls for pediatric clinicians to improve our ASD screening, recognize and address comorbidities, and provide high-level care in and outside of the clinic.

Credits

• Producer & Writer: Sydney Engel FNP & Shannon Snellgrove MD
• Executive Producer: Nicholas Lee MD
• Showrunner: Sam Masur MD
• Infographic: Sydney Engel FNP
• Cover Art: Chris Chiu MD
• Hosts: Justin Berk MD, Chris Chiu MD, Shannon Snellgrove MD
• Editor:Justin Berk MD; Clair Morgan of nodderly.com
• Guest(s): Chris Hanks MD

Autism Spectrum Disorder Pearls

1. ASD is more common than many providers realize – 1 in 44 children in the U.S. are diagnosed by age 8. 
2. Girls and children from minority groups are likely being underdiagnosed. 
3. Screening for autism should occur for all patients at 18 and 30 months. Patients with a positive screen should be referred to specialists in developmental or behavioral pediatrics for a much more comprehensive interdisciplinary evaluation.
4. A formal diagnosis of ASD isn’t needed to initiate intervention(s) – refer to early intervention/speech therapy/ABA in any situation of concern 
5. Nearly every other medical condition is more common in patients with autism. Be vigilant and talk with families about monitoring for comorbid epilepsy and mood disorders, particularly as patients enter adolescence and adulthood. 
6. Before starting any psychotropic meds, consider (and address) reasons that the patient may be in pain or otherwise uncomfortable (e.g., dysmenorrhea, headaches, dental pain, seizures, allergies etc.)
7. As of now, there is no known “cure” for autism, but there are lots of strategies to support and accommodate patients with this diagnosis. Showing love and acceptance is essential!

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Autism Spectrum Disorder Notes

What is Autism Spectrum Disorder (ASD)?

• The DSM5 definition is quite long and multifactorial. Dr. Hanks’ explains ASD as “A biologically-based condition that is complex and lifelong. [It is] a neurodevelopmental condition that’s marked by alterations in social communication and interaction and repetitive/restrictive patterns of behavior.”
• The DSM4 included separate diagnoses of Autism, Pervasive Developmental Disorders, and Asperger’s disorder. In the DSM5 these were all combined into the category of ASD. 
• Language for describing ASD varies! Some patients may be more comfortable with patient-first language (e.g., “a person with autism”), some prefer to be described as “an autistic person,” and some are more comfortable with the term Asperger’s. Let your patients be the guide. “High-functioning” and “low-functioning” is very oversimplified – be cautious with this, and instead describe specific behaviors or level of support needed (note that this can also change over time).
• Expert opinion: ASD was initially defined in a medical model, where the focus was on impairment and remediation of the individual. Dr. Hanks emphasizes that a significant part of management is altering societal and environmental factors to allow patients to succeed

Screening & Prevalence

• 1 in 44 8-year old children in the U.S. have been diagnosed with autism (vs Down Syndrome is 1 in 700)
• Screening: General developmental screening at 9, 18, and 30 mo. Autism-specific screening at ages 18 and 24 mo. The most common tool in the U.S. is the MCHAT-R. Sensitivity and specificity is  85%/99% (when used properly!) After 24 mo, there are no specific screening recommendations. 
• Boys are far more likely to be diagnosed with autism than girls. Expert opinion: This is likely due to girls being underdiagnosed, which may be due to not looking for symptoms as frequently or variations in behavioral expectations (e.g., social withdrawal and passivity may be interpreted as shyness in girls vs signs of a disorder in boys) 
• Sample script for communicating a positive screen (and your impression based on follow up questions) to caregivers: “I’m concerned about XX and XX about your child’s development. I’d like to refer them to a specialist to look into what might be contributing to this and see if there’s anything else we need to be doing to support them.” 

Diagnosis

• ASD is a SPECTRUM – there are many variations in presentations. Although the goal is diagnosis before age 3, sometimes this requires re-evaluation as the child develops. 
• Try to investigate patterns of behavior at home/other environments where the child feels comfortable, as opposed to just in the clinic.
• Diagnosis, whether through Developmental and Behavioral Pediatrics or other specialty practices, usually involves a multidisciplinary team and is a very involved process including observation of/interaction with the child, medical history, family history, physical exam, possibly genetic testing, and use of diagnostic tools (e.g., Autism Diagnostic Observation Schedule (ADOS))
• Physical exam: Usually no specific findings. There is an increased prevalence of macrocrania in patients with autism (Sacco et al., 2015). Monitor for hand flapping, spinning, and toe-walking. 

Role of Genetic Testing

• ASD has significant genetic components; however, not all patients with ASD have an identifiable genetic etiology. 
• A genetic etiology is more likely to be identified in patients with intellectual disability, dysmorphic features on exam, and/or family history of ASD or other developmental disability. Testing should be ordered for all of these patients and offered to others – referral to genetics is often the best way to start this process.
• Benefits of genetic testing: a) Increased insight into diagnosis, b) Insight into the likelihood of diagnosis in other family members, and c) Possible identification of co-located genetic variations that increase risk for other conditions (e.g., PTEN mutation that correlates with increased cancer risk or 22Q11.2 deletion that is associated with increased risk for psychosis) 

Differentials and Comorbidities

• Most common differential diagnoses include learning disabilities, speech apraxias, intellectual disabilities, ADHD, anxiety, and OCD. There is also a high rate of co-occurring mental health conditions in patients with ASD – screen for this! 
• There is an increased prevalence of ASD in children with Fragile X syndrome and Down syndrome
• The rate of epilepsy among patients with ASD is 12% (Viscidi et al., 2013). This rate increases as patients enter adolescence and early adulthood – monitor closely for seizures.
• GI challenges are common, particularly constipation. Dietary selectivity may play a role in this, and research is underway regarding connection to the gut microbiome. Treatment is the same as for other patients with functional constipation.

Management

• A diagnosis isn’t needed to initiate intervention(s) – refer to EI/speech therapy/ABA in any situations of concern 
• When discussing the diagnosis with families and patients, emphasize that the diagnosis is biologically-driven with no known “cure”.  Acceptance and accommodation are essential from the moment of diagnosis onward (e.g., providing tools to help the patient communicate)
• The standard of care for helping patients with ASD learn to succeed in the existing environment is Applied Behavior Analysis (ABA).  ABA teaches patients individual skills through repetition and reward systems. This is often very time intensive (as much as 25-40 hours/week). Some in the ASD community see this is the wrong approach; i.e., that it is “trying to train the autism out of them.”
• Parent training courses/resources are effective at improving behavior and decreasing stress (Deb at al., 2020). Refer parents to options online or advise them to reach out to local autism centers
• Find ways to accommodate the patient in your clinic! E.g., Save vitals for the end of the visit, give the patient a chance to touch/get familiar with the equipment
• Mortality is increased in patients with ASD – mostly attributable to epilepsy, drowning, and suicide (Catala-Lopez et al., 2022) Discuss these issues with caregivers!
• Start conversations about transition to adult care BEFORE the child turns 18 (e.g., legal guardianship, POA forms)

Medication Management 

• Before starting any psychotropic meds, consider (and address) reasons that the patient may be in pain or otherwise uncomfortable (e.g., dysmenorrhea, headaches, dental pain, seizures, allergies etc.)
• There are two FDA-approved meds for the treatment of behavioral issues in ASD – aripiprazole and risperidone. These can decrease problem behaviors but they have LOTS of side effects. Reserve for a) when you can’t identify another cause for the patient’s presentation and b) when being managed by someone who has experience with these meds. 
• If the patient meets criteria for depression/anxiety, don’t start with atypical antipsychotics – instead follow standard of care for these issues (i.e., CBT, SSRI)

Supplements/Dietary Modifications

• Many patients already have restricted eating patterns. Focus on ensuring adequate nutrition – if unable to obtain through diet, consider multivitamins/supplements within reason. 
• Supplements: Many exciting small studies have been done on various supplement options, large-scale data strongly supporting use is yet to emerge
• Medical marijuana: Evidence is limited. One recent non-controlled, unblinded study in Israel showed positive effects on severe behavioral outbursts (Barchel et al., 2019). Awaiting placebo-controlled trials. 

Addressing Vaccine Concerns

• MANY studies have indicated that there is no demonstrable link between autism in vaccine – at this point we have NO evidence that autism is caused by vaccines (Taylor et al., 2014)
• Identification of associated genetic findings also strongly suggests against any link between vaccines and symptom onset

Resources/Links

https://go.osu.edu/cast 

https://wexnermedical.osu.edu/primary-care/adult-autism-center

Goal

Listeners will explain how to effectively utilize screening tools, the process of diagnosing, and the pillars of primary care management of Autism Spectrum Disorder. 

Learning objectives

After listening to this episode listeners will…  

1. Recall the common presenting symptoms of Autism Spectrum Disorder (ASD)
2. Recognize the strengths and weaknesses of common ASD screening tools
3. Feel comfortable counseling patients and caregivers on a positive screen for ASD
4. Describe the utility of genetic testing in ASD patients
5. Learn about the common comorbidities associated with ASD
6. Recall the FDA approved medications for behavior in ASD and when to appropriately utilize them 

Disclosures

Dr. Hanks reports no relevant financial disclosures. The Cribsiders report no relevant financial disclosures. 

Citation

Engel S, Snellgrove S, Hanks C, Lee N, Masur S, Chiu C, Berk J. “#53 Autism Spectrum Disorder – Let’s (m-)CHAT About It!”. The Cribsiders Pediatric Podcast. https:/www.thecribsiders.com/ June 15, 2022.