This special article uses a biosocial-ecological framework to discuss findings in the literature on racial, ethnic, and sociodemographic diagnostic disparities in autism spectrum disorder. We draw explanations from this framework on the complex and cumulative influences of social injustices across interpersonal and systemic levels.

Autism spectrum disorder (ASD) can be reliably diagnosed at 18 months, yet significant diagnostic delays persist in the United States. This double-blinded, multi-site, prospective, active comparator cohort study tested the accuracy of an artificial intelligence-based Software as a Medical Device designed to aid primary care healthcare providers (HCPs) in diagnosing ASD. The Device combines behavioral features from three distinct inputs (a caregiver questionnaire, analysis of two short home videos, and an HCP questionnaire) in a gradient boosted decision tree machine learning algorithm to produce either an ASD positive, ASD negative, or indeterminate output. This study compared Device outputs to diagnostic agreement by two or more independent specialists in a cohort of 18–72-month-olds with developmental delay concerns (425 study completers, 36% female, 29% ASD prevalence). Device output PPV for all study completers was 80.8% (95% confidence intervals (CI), 70.3%–88.8%) and NPV was 98.3% (90.6%–100%). For the 31.8% of participants who received a determinate output (ASD positive or negative) Device sensitivity was 98.4% (91.6%–100%) and specificity was 78.9% (67.6%–87.7%). The Device’s indeterminate output acts as a risk control measure when inputs are insufficiently granular to make a determinate recommendation with confidence. If this risk control measure were removed, the sensitivity for all study completers would fall to 51.6% (63/122) (95% CI 42.4%, 60.8%), and specificity would fall to 18.5% (56/303) (95% CI 14.3%, 23.3%). Among participants for whom the Device abstained from providing a result, specialists identified that 91% had one or more complex neurodevelopmental disorders. No significant differences in Device performance were found across participants’ sex, race/ethnicity, income, or education level. For nearly a third of this primary care sample, the Device enabled timely diagnostic evaluation with a high degree of accuracy. The Device shows promise to significantly increase the number of children able to be diagnosed with ASD in a primary care setting, potentially facilitating earlier intervention and more efficient use of specialist resources.

Background: There is a shortage of medical informatics and data science platforms using cloud computing on electronic medical record (EMR) data, and with computing capacity for analyzing big data. We implemented, described, and applied a cloud computing solution utilizing the fast health interoperability resources (FHIR) standardization and state-of-the-art parallel distributed computing platform for advanced analytics. Methods: We utilized the architecture of the modern predictive analytics platform called Cerner® HealtheDataLab and described the suite of cloud computing services and Apache Projects that it relies on. We validated the platform by replicating and improving on a previous single pediatric institution study/model on readmission and developing a multi-center model of all-cause readmission for pediatric-age patients using the Cerner® Health Facts Deidentified Database (now updated and referred to as the Cerner Real World Data). We retrieved a subset of 1.4 million pediatric encounters consisting of 48 hospitals’ data on pediatric encounters in the database based on a priori inclusion criteria. We built and analyzed corresponding random forest and multilayer perceptron (MLP) neural network models using HealtheDataLab. Results: Using the HealtheDataLab platform, we developed a random forest model and multi-layer perceptron model with AUC of 0.8446 (0.8444, 0.8447) and 0.8451 (0.8449, 0.8453) respectively. We showed the distribution in model performance across hospitals and identified a set of novel variables under previous resource utilization and generic medications that may be used to improve existing readmission models. Conclusion: Our results suggest that high performance, elastic cloud computing infrastructures such as the platform presented here can be used for the development of highly predictive models on EMR data in a secure and robust environment. This in turn can lead to new clinical insights/discoveries.

Large language models (LLMs) continue to exhibit noteworthy capabilities across a spectrum of areas, including emerging proficiencies across the health care continuum. Successful LLM implementation and adoption depend on digital readiness, modern infrastructure, a trained workforce, privacy, and an ethical regulatory landscape. These factors can vary significantly across health care ecosystems, dictating the choice of a particular LLM implementation pathway. This perspective discusses 3 LLM implementation pathways—training from scratch pathway (TSP), fine-tuned pathway (FTP), and out-of-the-box pathway (OBP)—as potential onboarding points for health systems while facilitating equitable adoption. The choice of a particular pathway is governed by needs as well as affordability. Therefore, the risks, benefits, and economics of these pathways across 4 major cloud service providers (Amazon, Microsoft, Google, and Oracle) are presented. While cost comparisons, such as on-demand and spot pricing across the cloud service providers for the 3 pathways, are presented for completeness, the usefulness of managed services and cloud enterprise tools is elucidated. Managed services can complement the traditional workforce and expertise, while enterprise tools, such as federated learning, can overcome sample size challenges when implementing LLMs using health care data. Of the 3 pathways, TSP is expected to be the most resource-intensive regarding infrastructure and workforce while providing maximum customization, enhanced transparency, and performance. Because TSP trains the LLM using enterprise health care data, it is expected to harness the digital signatures of the population served by the health care system with the potential to impact outcomes. The use of pretrained models in FTP is a limitation. It may impact its performance because the training data used in the pretrained model may have hidden bias and may not necessarily be health care–related. However, FTP provides a balance between customization, cost, and performance. While OBP can be rapidly deployed, it provides minimal customization and transparency without guaranteeing long-term availability. OBP may also present challenges in interfacing seamlessly with downstream applications in health care settings with variations in pricing and use over time. Lack of customization in OBP can significantly limit its ability to impact outcomes. Finally, potential applications of LLMs in health care, including conversational artificial intelligence, chatbots, summarization, and machine translation, are highlighted. While the 3 implementation pathways discussed in this perspective have the potential to facilitate equitable adoption and democratization of LLMs, transitions between them may be necessary as the needs of health systems evolve. Understanding the economics and trade-offs of these onboarding pathways can guide their strategic adoption and demonstrate value while impacting health care outcomes favorably.

Artificial intelligence (AI) broadly describes a branch of computer science focused on developing machines capable of performing tasks typically associated with human intelligence. Those who connect AI with the world of science fiction may meet its growing rise with hesitancy or outright skepticism. However, AI is becoming increasingly pervasive in our society, from algorithms helping to sift through airline fares to substituting words in emails and SMS text messages based on user choices. Data collection is ongoing and is being leveraged by software platforms to analyze patterns and make predictions across multiple industries. Health care is gradually becoming part of this technological transformation, as advancements in computational power and storage converge with the rapid expansion of digitized medical information. Given the growing and inevitable integration of AI into health care systems, it is our viewpoint that pediatricians urgently require training and orientation to the uses, promises, and pitfalls of AI in medicine. AI is unlikely to solve the full array of complex challenges confronting pediatricians today; however, if used responsibly, it holds great potential to improve many aspects of care for providers, children, and families. Our aim in this viewpoint is to provide clinicians with a targeted introduction to the field of AI in pediatrics, including key promises, pitfalls, and clinical applications, so they can play a more active role in shaping the future impact of AI in medicine.