Introductory editorial to the special issue: Assessment and diagnosis of autism spectrum disorder (ASD) and related clinical decision making in neuropsychological practice

Autism spectrum disorder (ASD) is a complex developmental disability characterized by challenges with social communication, restricted interests, and repetitive behaviors. Recent CDC estimates of US prevalence for ASD suggests that 23 out of 1,000 8-year-old children (i.e. one in 44) meet criterion for ASD, an increase from prior estimates (Maenner, et al., 2021). While some have raised concerns regarding the methodology of this research (e.g. due to varying metrics for identifying ASD cases, high cross-site variation, regional differences, and systemic disparities in educational supports and health care) (Mandell & Lecavalier, 2014; Yuan et al., 2021), it is stil clear that ASD is a fairly common disorder with clinically significant challenges persisting into ­adulthood. Given the high prevalence, ASD characteristics should be considered in ­neuropsychological differential diagnostic conceptualization across settings and patient populations.

This special issue brings together original research, literature reviews, and clinical guidance to enhance neuropsychological practice in the assessment of ASD while emphasizing holistic diagnostic considerations and person-centered care. We begin with a survey of neuropsychologists’ first-person reflections on ASD assessment practices, the training they received, and where they believe the field should progress. This article sets the stage for the subsequent three sections, which focus on: (1) assessment tools and evaluative approaches; (2) case conceptualization in the context of complex comorbidities; and (3) higher level clinical recommendations and person-centered approaches to recognizing and diagnosing ASD.

Section 1, comprised of 5 articles, focuses on assessment measures and approaches. Pulsipher and Lieb (2022) paper opens the discussion through their evaluation of an ASD symptom intake screening measure. Despite aligning this measure with DSM-5 criteria (which most screening measures have yet to do), this approach did not improve diagnostic predictions. As such, their findings continue to support the need for behavioral assessment by trained clinicians. On the other hand, McKernan and Kim’s (2022) paper demonstrates that screeners relating to semantic, syntactic, and pragmatic communication skills at kindergarten entry do predict academic, social, and adaptive skills at kindergarten exit, emphaszing the importance of early social pragmatic/semantic skills intervention, even in children who historically may not receive them due to their many intact skills. Hudock and Esler (2022) provide a concise summary of measures to evaluate ASD in young children, as well as an introduction to tests for school-aged children, including the Autism Diagnostic Observation Schedule - Second Edition (ADOS-2, Lord et al., 2012). While the ADOS-2 can be an especially useful tool, it is not formally diagnostic in and of itself, and is often misattributed as the single “gold standard” for ASD assessment. In fact, like many measures, this rich behavioral/observational based test can yield both false positives and false negatives. Greene et al. (2021) report on false positives in a clinical sample, as well as some of the factors that increase the risk of erroneous elevations on this measure. Finally, in the era of COVID-19 and associated social distancing and masking requirements, Ludwig et al. (2022a) provide timely and carefully crafted recommendations and guidance regarding remote/telehealth ASD assessments.

Section 2, also comprised of 5 articles, transitions to the nuanced challenges of case conceptualizations and recognizing/diagnosing autism in the context of complex medical, developmental, and/or psychiatric histories. The phrase diagnostic overshadowing is used to describe the tendency to attribute a patient’s symptoms to more easily recognized or clearly documented conditions (e.g. epilepsy, premature birth, developmental delays, hearing/visual impairments, and anxiety disorders), rather than recognizing the comorbidity of multiple disorders that influence the patient’s presentation and treatment needs. The papers in this section highlight the fact that children who have ASD in the context of such complexities frequently experience delays in diagnosis and therefore much needed intervention. Specifically, Hamner et al. (2022) followed a clinical sample of children with perinatal stroke, documenting an increased risk for ASD in this population. However, the children in their sample were diagnosed nearly 2 years later than patients in the general population and over 3.5 years after first concerns were raised about their presentation. Bush and Scott (2022) present a summary of rare genetic syndromes and how they may present in children both with and without ASD to support diagnostic clarification and intervention recommendations. Children with intellectual, visual, and/or hearing impairments can also have presentations that overshadow their social impairments, leading to diagnostic delays, as well as symptoms that may be suggestive of but in fact not consistent with ASD. The articles by Thomas et al. (2022) and Ludwig et al. (2022b) offer readers a clear understanding of how to best approach differential diagnostic considerations in these populations. Finally, Wodka et al. (2022) document a higher risk for delays in diagnosis for school-age girls both with and without comorbid ADHD and/or anxiety, as well as recommendations for how to more effectively identify and diagnose these children.

Section 3 contains 4 articles that we believe will enhance the reader’s higher conceptual and integrative processes and emphasis on person-centered interactions when working with this population. The stage for this conversation is set by Fennell and Johnson (2022) who share their personal, clinical, and research experiences with the autism population. They remind us to be mindful of varying preferences regarding language, such as identity-centered vs person-first language (i.e. using the phrases autistic person vs person with autism), while emphasizing cooperative, respectful and person-center interactions and addressing misconceptions that individuals on the autism spectrum lack theory of mind, empathy, and social motivation. St. John et al. (2022) expand on this discussion in their review article, which looks at the potential cognitive strengths of adults with autism. Similarly, Bordes Edgar et al. (2022) present a critical reminder of the need to provide culturally informed ASD evaluations which they demonstrate through multiple case studies. Finally, Duvall et al. (2022) provide an integrative road map for recognizing and evaluating patient and family characteristics (i.e. both red and “pink” flags) that should alert neuropsychologists to the possibility of an ASD diagnosis, particularly in patients whose strengths may make their clinical presentation less obvious, as well as in patients who differ from the bulk of the historic literature for this population (i.e. relating to the typical presentation in white cisgender male patients with ASD).

Many groups of people (e.g. multilingual people, those who identify as non-white, people who identify as gender diverse and girls/women) have not been well represented in research and thus may face unique barriers to assessment, concerns for under or misdiagnosis, and the possibility of bias impacting their care (Yuan et al., 2021). As prejudice, discrimination, and disparities in treatment are increasingly acknowledged across all populations (APA, 2021), it is of the utmost importance to remember individual and cultural differences when approaching ASD. We are hopeful that this special issue will foster conversations about ASD diagnosis and growth in the depth of knowledge of practitioners to improve diagnostic accuracy within neuropsychological practice.

This special issue was inspired by the clinical experiences of the guest editors and our passion for working with individuals on the autism spectrum. We would like to thank the adults, children, and families with whom we have worked over the years, as well as the contributors and many reviewers who volunteered their time. Lastly, we would like to thank Yana Suchy, the Editor-in-Chief of The Clinical Neuropsychologist, for her guidance and support of this important topic.

Kira Armstrong
Private Practice, Woburn, Massachusetts
[email protected] Susanne W. Duvall
Department of Pediatrics & Psychiatry, Institute on Development and Disability, Oregon Health & Science University, Portland, Oregon

Disclosure statement

No potential conflict of interest was reported by the authors.

Funding

The author(s) reported there is no funding associated with the work featured in this article.