Intellectual and Developmental Disabilities (IDDs), such as Down syndrome, Fragile X syndrome, Rett syndrome, and autism spectrum disorder, usually manifest at birth or early childhood. IDDs are characterized by significant impairment in intellectual and adaptive functioning, and both genetic and environmental factors underpin IDD biology. Molecular and genetic stratification of IDDs remain challenging mainly due to overlapping factors and comorbidity. Advances in high throughput sequencing, imaging, and tools to record behavioral data at scale have greatly enhanced our understanding of the molecular, cellular, structural, and environmental basis of some IDDs. Fueled by the “big data” revolution, artificial intelligence (AI) and machine learning (ML) technologies have brought a whole new paradigm shift in computational biology. Evidently, the ML-driven approach to clinical diagnoses has the potential to augment classical methods that use symptoms and external observations, hoping to push the personalized treatment plan forward. Therefore, integrative analyses and applications of ML technology have a direct bearing on discoveries in IDDs. The application of ML to IDDs can potentially improve screening and early diagnosis, advance our understanding of the complexity of comorbidity, and accelerate the identification of biomarkers for clinical research and drug development. For more than five decades, the IDDRC network has supported a nexus of investigators at centers across the USA, all striving to understand the interplay between various factors underlying IDDs. In this review, we introduced fast-increasing multi-modal data types, highlighted example studies that employed ML technologies to illuminate factors and biological mechanisms underlying IDDs, as well as recent advances in ML technologies and their applications to IDDs and other neurological diseases. We discussed various molecular, clinical, and environmental data collection modes, including genetic, imaging, phenotypical, and behavioral data types, along with multiple repositories that store and share such data. Furthermore, we outlined some fundamental concepts of machine learning algorithms and presented our opinion on specific gaps that will need to be filled to accomplish, for example, reliable implementation of ML-based diagnosis technology in IDD clinics. We anticipate that this review will guide researchers to formulate AI and ML-based approaches to investigate IDDs and related conditions.

Since the HAL9000 and Star Trek's M-5 Multitronic, the power and capabilities of AI have always been oversold by both Hollywood and Silicon Valley. Although we're still waiting on machines that can carry on an intelligent conversation, AI has been creeping into many objects in our everyday lives behind the scenes, making them more useful and proactive. People are most familiar with the intelligent assistants built into devices like the Amazon Echo, Google Nest Hub and Apple HomePod, but as I wrote more than three years ago, these rely on cloud backend services for most of their smarts, using local hardware primarily to recognize their wake word and listen for follow-up questions. The combination allows surprisingly sophisticated deep and machine learning models to run on embedded systems. Until recently, shoehorning AI software into a battery-powered device has required data scientists skilled in working with the constraints of an embedded SoC, but recent advances in AI development and automation frameworks, categorically termed TinyML, greatly expands the realm of smart devices.

Artificial intelligence (AI) used to be the specialized domain of data scientists and computer programmers. But companies such as Wolfram Research, which makes Mathematica, are trying to democratize the field, so scientists without AI skills can harness the technology for recognizing patterns in big data. In some cases, they don't need to code at all. Insights are just a drag-and-drop away. One of the latest systems is software called Ludwig, first made open-source by Uber in February and updated last week.

A new microscope will use image recognition software and machine learning technology to identify and count malaria parasites in a blood smear. The EasyScan GO, announced at MEDICA, the medical industry's leading trade fair, is the result of a partnership between the Global Good Fund, a Seattle-based group funded by philanthropist Bill Gates, and Motic, a China-based company that specializes in manufacturing microscopes. Field tests have demonstrated that the machine learning algorithm is as reliable as an expert microscopist in fighting the spread of drug resistant malaria. EasyScan GO is the latest example of Global Good's partnering to bring emerging technologies to health systems in low resource settings. Based at the invention company Intellectual Ventures, Global Good is focused on developing and deploying technologies for the poorest parts of the world.