Health-related issues in youth with autism spectrum disorder

ABSTRACT

The purpose of this special issue is to bring attention to health-related issues in youth with autism spectrum disorder (ASD), with the intent to support pediatric medical and behavioral-health providers in caring for patients with ASD. Specific topics discussed include medical conditions observed in individuals with ASD and associated genetic mutations, vaccine hesitancy and beliefs about causes of ASD, expanding ASD-diagnostic supports to community providers, differential diagnosis of ASD, interventions for co-occurring anxiety in ASD, and suicide risk among individuals with ASD. This introductory article provides a brief overview of each paper, including the clinical relevance of each topic.

Introduction

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by (a) persistent impairments in social interaction and verbal and nonverbal communication skills across multiple settings and (b) the presence of stereotyped and/or repetitive behaviors or interests (American Psychiatric Association, 2013). ASD prevalence continues to increase, with current estimates indicating 1 in 54 children (aged 8 years) in the U.S. have been diagnosed with ASD (Maenner et al., 2020). Consistent with previous data, ASD diagnoses were recently found to be 4.3 times as prevalent among males compared to females (Maenner et al., 2020). As with all neurodevelopmental disorders, ASD occurs across racial and ethnic groups. Current prevalence estimates (per 1,000 children aged 8 years) are similar for non-Hispanic white (18.5), non-Hispanic black (18.3), and Asian/Pacific Islander children (17.9), with lower estimated prevalence among Hispanic children (15.4) (Maenner et al., 2020). Despite the fact that symptoms are often observed during the first two years of life, the median age of ASD diagnosis is 51 months (Maenner et al., 2020). This is particularly disconcerting, as a preponderance of evidence suggests that early intensive behavioral intervention (EIBI) is associated with more positive outcomes in individuals with ASD, yet it is often difficult, if not impossible, to access EIBI without a formal ASD diagnosis.

Given the relatively high prevalence of ASD, it is almost certain that pediatric medical and behavioral-health providers will encounter patients with ASD in their practice. Health-related issues in ASD are prevalent and varied, ranging from difficulties receiving timely diagnosis as noted above, to a myriad of behavioral-health and medical comorbidities in individuals with ASD. Therefore, efforts should be aimed at increasing pediatric (and adult) providers’ knowledge, skills, and confidence in providing high-quality, evidence-based care for patients with ASD. To this end, the purpose of this special issue is to review various health-related issues in youth with ASD, with the intent to better equip pediatric medical and behavioral-health providers to effectively care for patients with ASD.

For decades, we have known that ASD has strong genetic underpinnings, and thanks to advances in genetic-testing capabilities, there are more than 1,000 genes now believed to be associated with ASD (see www.gene.sfari.org). Understanding more about subgroups of individuals with ASD who share the same genetic mutations can help us to identify other shared medical/neurodevelopmental conditions, which may inform treatment recommendations and/or the development of more personalized interventions. This special issue opens with a manuscript by Kurtz-Nelson and colleagues (this issue) that examines and compares rates of co-occurring medical conditions in individuals with disruptive mutations to ASD risk genes to better elucidate the relationship between these comorbidities and genetic etiologies. In order to establish a sizable cohort of individuals with rare mutations, the authors combined data from two projects using a genotype-first approach to understanding genetic mechanisms in ASD. Specifically, they examined rates of co-occurring medical conditions across a sample of individuals with disruptive mutations to 1 of 18 ASD risk genes compared to a sample of children and adolescents with idiopathic ASD (i.e., no known genetic etiology). Elevated rates of gastrointestinal problems, seizures, physical anomalies, and immune problems were observed, with significant group differences noted. Importantly, these findings may have implications for the medical care of individuals with ASD-associated mutations.

Although there is a strong evidence base for the role of genetics in ASD, many parents of children with ASD endorse other factors as etiologically relevant, including extrinsic events. One of the most common of these is receipt of childhood vaccines. This idea originally arose from a fraudulent and now retracted report that linked the regressive onset of ASD to the mumps, measles, and rubella (MMR) vaccine; and despite decades of epidemiological research failing to find a connection between vaccines and ASD, many parents cling to this belief. It is important to understand which groups of parents are at greater risk for developing vaccine concerns that lead to vaccine delays and refusals, as the increasing incidence of undervaccinated children has important public-health consequences. Sahni and colleagues (this issue) compared prevalence of vaccine hesitancy (i.e., concerns about vaccine safety that may lead to vaccine delay/refusal) and beliefs about causes of children’s medical/developmental conditions across four parent groups: parents of children with diagnosed ASD, parents of children with non-ASD developmental delays, parents of children with diagnosed rheumatoid disorder, and parents of children in the general pediatric population. Overall, nearly one in five parents was vaccine hesitant, with the highest proportions seen in parents of children with ASD, followed by parents of children in the general pediatric population. Agreement with particular causes of children’s diagnoses (e.g., toxins in vaccines, diet/eating habits) increased the odds of being vaccine hesitant. Findings suggest that misinformation about known causes of ASD, in particular, may encourage vaccine hesitancy. The authors further state that interventions are needed to promote vaccine safety/acceptance, and these may be more effective when tailored to specific parent groups.

Given that ASD diagnosis continues to be delayed for many individuals, particularly in underserved (e.g., rural, lower SES) populations, which in turn delays access to evidence-based intervention for youth with ASD, Nowell and colleagues (this issue) sought to test a state-of-the-art model – ECHO Autism: Diagnostics – in order to increase access to best-practice ASD diagnostic evaluations. In this pilot project, the authors utilized a quality improvement framework and quasi-experimental design to evaluate the feasibility and outcomes of ECHO Autism: Diagnostics as a model for educating, training, and mentoring community-based psychologists in best-practice ASD diagnoses, particularly for older and/or more complex cases. This project involved the creation and implementation of a 12-month curriculum, including semimonthly (i.e., twice per month) 90-minute clinics. Following participation in this pilot project, community-based psychologist participants demonstrated increased self-efficacy with regard to working with individuals with ASD, recognizing red flags for ASD, and administering the ADOS-2 (Autism Diagnostic Observation Schedule, 2nd Edition, considered to be a “gold-standard” instrument for diagnosing ASD). Results also indicated increased ASD-related knowledge among participants, and participants reported fewer barriers to providing care for individuals with ASD following participation in ECHO Autism: Diagnostics. Given the promising results of this pilot project, the authors suggest that this innovative model may be a feasible and scalable method to help increase access to ASD-diagnostic evaluations, including improving access for historically underserved groups.

In addition to diagnostic delays are questions surrounding differential diagnosis in ASD, as the symptoms of autism commonly overlap with related neurodevelopmental/psychiatric conditions (e.g., ADHD, anxiety). Likewise, diagnostic criteria for ASD changed in 2013 (American Psychiatric Association, 2013), with diagnoses previously captured under the broader umbrella of Pervasive Developmental Disorders (Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder – Not Otherwise Specified [PDD-NOS]) collapsed into one label of Autism Spectrum Disorder. Moreover, a new diagnosis of Social (Pragmatic) Communication Disorder (SCD) was created that characterized social-communication deficits in the absence of restricted, repetitive interests/behaviors. Many feared that children previously diagnosed with PDD-NOS would fall under this new SCD diagnosis and become ineligible for ASD-specific services. Bradley and colleagues (this issue) prospectively examined rates of ASD versus SCD in a large sample of youth with suspected ASD and subsequently compared communication/language deficits between those with and without an ASD diagnosis. Although a small number of children met criteria for SCD, all but one of them also met criteria for ASD. Pragmatic impairments in language were also common among individuals with ASD and not attributed to overall communication deficits. The authors suggest that individuals with SCD may benefit from interventions commonly recommended for youth with ASD, and they raise the question of whether separate diagnostic classifications/therapies for children with ASD versus SCD are warranted.

As noted previously, differential diagnosis of ASD can be challenging because symptoms often overlap with related neurodevelopmental disorders or co-occur with other psychiatric conditions. One of the most common psychiatric conditions that co-occurs with ASD is anxiety, which can be difficult to address with traditional methods because of executive-functioning deficits inherent to ASD. Because the prevalence of comorbid anxiety in youth with ASD is high, Slaughter and colleagues (this issue) note the importance of ensuring that professionals caring for youth with ASD have easy access to evidence-based treatment protocols. The authors present a comprehensive review and summary of free and publicly available, evidence-based, psychosocial interventions for youth with ASD and anxiety. Their manuscript describes evidence-based interventions for youth with ASD and anxiety, summarizes strengths and limitations of the current body of literature in this area, and offers suggestions for addressing limitations in future work. From this review, the authors identified four broad intervention categories: cognitive-behavioral, story-based, exposure, and sensory-integrative interventions. Of these, cognitive-behavioral interventions were (1) found to have the strongest empirical support for treating anxiety in youth with ASD, and (2) were more likely to utilize rigorous methodology. While the authors noted ever-increasing empirical support for cognitive-behavioral interventions, they also acknowledged significant limitations in this line of research, including limited research examining anxiety treatment in individuals with ASD who have below-average intellectual abilities.

It is clear that psychiatric comorbidities are common in ASD, with some of the most frequently co-occurring diagnoses being anxiety and depression. Because the prevalence of these co-occurring conditions is high, individuals with ASD may be at increased risk for suicide. Hill and Katusic (this issue) close out the issue with a thoughtful conceptualization of suicide risk in individuals with ASD through the lens of the interpersonal theory of suicide (ITS; Joiner, 2005; Van Orden et al., 2010), including an examination of theoretically derived risk and protective factors. The authors cite prior research indicating a higher incidence of suicide-related behaviors in individuals with ASD and highlight the importance of developing a deeper understanding of the relationships between ASD and suicide-related behaviors. Based on hypothesized risk and protective factors in individuals with ASD, the authors also offer recommendations for improving suicide prevention and related clinical care for youth with ASD. Several resources focused on suicide prevention among youth with ASD are also provided.

Conclusion

Collectively, the body of work in this special issue addresses key topics in the care of individuals with ASD, ranging from early, accurate diagnosis to identifying and addressing medical/psychiatric comorbidities to understanding parents’ beliefs about causes of ASD and vaccine safety. Each article provides relevant information about how we can best apply the existing evidence to guide current clinical practices. At the same time, each highlights the continued efforts that are needed to address the gaps in our knowledge about how to better care for individuals with ASD and their families. Given the prevalence of ASD today, it is likely that pediatric medical and behavioral-health providers will encounter patients with ASD, and this issue is intended as a resource in their provision of appropriate and effective care.

Disclosure statement

Leandra N. Berry has no potential conflicts of interest to disclose. Robin P. Goin-Kochel has subcontracted with Yamo Pharmaceuticals to consult on the design of clinical trials.