What if the idea of the autism spectrum is completely wrong? For years, we've thought of autism as lying on a spectrum, but emerging evidence suggests that it comes in several distinct types. These three words have become synonymous with autism, yet behind them lies a common misunderstanding. The idea of "the spectrum" suggests that all autistic people share similar experiences and behave in similar ways - only to a greater or lesser extent. The reality couldn't be further from the truth. Some autistic people may not speak at all; others are hyperverbal and extremely fluent.

Brain development in the first few months of human life is a critical phase characterized by rapid structural growth and functional organization. Accurately predicting developmental outcomes during this time is crucial for identifying delays and enabling timely interventions. This study introduces the SwiFT (Swin 4D fMRI Transformer) model, designed to predict Bayley-III composite scores using neonatal fMRI data from the Developing Human Connectome Project (dHCP). To enhance predictive accuracy, we apply dimensionality reduction via group independent component analysis (ICA) and pretrain SwiFT on large adult fMRI datasets to address the challenges of limited neonatal data. Our analysis shows that SwiFT significantly outperforms baseline models in predicting cognitive, motor, and language outcomes, leveraging both single-label and multi-label prediction strategies. The model's attention-based architecture processes spatiotemporal data end-to-end, delivering superior predictive performance. Additionally, we use Integrated Gradients with Smoothgrad sQuare (IG-SQ) to interpret predictions, identifying neural spatial representations linked to early cognitive and behavioral development. These findings underscore the potential of Transformer models to advance neurodevelopmental research and clinical practice.

According to the World Health Organization, the population of children with developmental delays constitutes approximately 6% to 9% of the total population. Based on the number of newborns in Huaibei, Anhui Province, China, in 2023 (94,420), it is estimated that there are about 7,500 cases (suspected cases of developmental delays) of suspicious cases annually. Early identification and appropriate early intervention for these children can significantly reduce the wastage of medical resources and societal costs. International research indicates that the optimal period for intervention in children with developmental delays is before the age of six, with the golden treatment period being before three and a half years of age. Studies have shown that children with developmental delays who receive early intervention exhibit significant improvement in symptoms; some may even fully recover. This research adopts a hybrid model combining a CNN-Transformer model with Case-Based Reasoning (CBR) to enhance the screening efficiency for children with developmental delays. The CNN-Transformer model is an excellent model for image feature extraction and recognition, effectively identifying features in bone age images to determine bone age. CBR is a technique for solving problems based on similar cases; it solves current problems based on past experiences, similar to how humans solve problems through learning from experience. Given CBR's memory capability to judge and compare new cases based on previously stored old cases, it is suitable for application in support systems with latent and variable characteristics. Therefore, this study utilizes the CNN-Transformer-CBR to establish a screening system for children with developmental delays, aiming to improve screening efficiency.

Background: Autism spectrum disorder (ASD) is currently diagnosed using qualitative methods that measure between 20-100 behaviors, can span multiple appointments with trained clinicians, and take several hours to complete. In our previous work, we demonstrated the efficacy of machine learning classifiers to accelerate the process by collecting home videos of US-based children, identifying a reduced subset of behavioral features that are scored by untrained raters using a machine learning classifier to determine children's "risk scores" for autism. We achieved an accuracy of 92% (95% CI 88%-97%) on US videos using a classifier built on five features. Objective: Using videos of Bangladeshi children collected from Dhaka Shishu Children's Hospital, we aim to scale our pipeline to another culture and other developmental delays, including speech and language conditions. Methods: Although our previously published and validated pipeline and set of classifiers perform reasonably well on Bangladeshi videos (75% accuracy, 95% CI 71%-78%), this work improves on that accuracy through the development and application of a powerful new technique for adaptive aggregation of crowdsourced labels. We enhance both the utility and performance of our model by building two classification layers: The first layer distinguishes between typical and atypical behavior, and the second layer distinguishes between ASD and non-ASD. In each of the layers, we use a unique rater weighting scheme to aggregate classification scores from different raters based on their expertise. We also determine Shapley values for the most important features in the classifier to understand how the classifiers' process aligns with clinical intuition. Results: Using these techniques, we achieved an accuracy (area under the curve [AUC]) of 76% (SD 3%) and sensitivity of 76% (SD 4%) for identifying atypical children from among developmentally delayed children, and an accuracy (AUC) of 85% (SD 5%) and sensitivity of 76% (SD 6%) for identifying children with ASD from those predicted to have other developmental delays. Conclusions: These results show promise for using a mobile video-based and machine learning–directed approach for early and remote detection of autism in Bangladeshi children.

Infants with a variety of complications at or before birth are classified as being at risk for developmental delays (AR). As they grow older, they are followed by healthcare providers in an effort to discern whether they are on a typical or impaired developmental trajectory. Often, it is difficult to make an accurate determination early in infancy as infants with typical development (TD) display high variability in their developmental trajectories both in content and timing. Studies have shown that spontaneous movements have the potential to differentiate typical and atypical trajectories early in life using sensors and kinematic analysis systems. In this study, machine learning classification algorithms are used to take inertial movement from wearable sensors placed on an infant for a day and predict if the infant is AR or TD, thus further establishing the connection between early spontaneous movement and developmental trajectory.