Click click snap: One look at patient's face, and AI can identify rare genetic diseases


WASHINGTON D.C. [USA]: According to a recent study, a new artificial intelligence technology can accurately identify rare genetic disorders using a photograph of a patient's face. Named DeepGestalt, the AI technology outperformed clinicians in identifying a range of syndromes in three trials and could add value in personalised care, CNN reported. The study was published in the journal Nature Medicine. According to the study, eight per cent of the population has disease with key genetic components and many may have recognisable facial features. The study further adds that the technology could identify, for example, Angelman syndrome, a disorder affecting the nervous system with characteristic features such as a wide mouth with widely spaced teeth etc. Speaking about it, Yaron Gurovich, the chief technology officer at FDNA and lead researcher of the study said, "It demonstrates how one can successfully apply state of the art algorithms, such as deep learning, to a challenging field where the available data is small, unbalanced in terms of available patients per condition, and where the need to support a large amount of conditions is great."

A brain signature highly predictive of future progression to Alzheimer's dementia Machine Learning

Early prognosis of Alzheimer's dementia is hard. Mild cognitive impairment (MCI) typically precedes Alzheimer's dementia, yet only a fraction of MCI individuals will progress to dementia, even when screened using biomarkers. We propose here to identify a subset of individuals who share a common brain signature highly predictive of oncoming dementia. This signature was composed of brain atrophy and functional dysconnectivity and discovered using a machine learning model in patients suffering from dementia. The model recognized the same brain signature in MCI individuals, 90% of which progressed to dementia within three years. This result is a marked improvement on the state-of-the-art in prognostic precision, while the brain signature still identified 47% of all MCI progressors. We thus discovered a sizable MCI subpopulation which represents an excellent recruitment target for clinical trials at the prodromal stage of Alzheimer's disease.

Automatically Evaluating Balance: A Machine Learning Approach Machine Learning

Compared to in-clinic balance training, in-home training is not as effective. This is, in part, due to the lack of feedback from physical therapists (PTs). Here, we analyze the feasibility of using trunk sway data and machine learning (ML) techniques to automatically evaluate balance, providing accurate assessments outside of the clinic. We recruited sixteen participants to perform standing balance exercises. For each exercise, we recorded trunk sway data and had a PT rate balance performance on a scale of 1 to 5. The rating scale was adapted from the Functional Independence Measure. From the trunk sway data, we extracted a 61-dimensional feature vector representing performance of each exercise. Given these labeled data, we trained a multi-class support vector machine (SVM) to map trunk sway features to PT ratings. Evaluated in a leave-one-participant-out scheme, the model achieved a classification accuracy of 82%. Compared to participant self-assessment ratings, the SVM outputs were significantly closer to PT ratings. The results of this pilot study suggest that in the absence of PTs, ML techniques can provide accurate assessments during standing balance exercises. Such automated assessments could reduce PT consultation time and increase user compliance outside of the clinic.

IBM's AI classifies seizure types to help people with epilepsy


About 1.2 percent of people in the U.S. -- and 3.4 million worldwide -- have active epilepsy, and roughly one in 26 people will develop it in their lifetime. Not all suffer seizures the same -- and for a third of patients, no medical treatment options exist. As for the remaining two thirds, the available treatments don't always behave predictably, owing to the condition's individualized nature. Lack of measurement is a long-standing barrier to better outcomes. Studies show that one common source of data -- written diaries -- tends to be only 50 percent accurate.

Project Rosetta: A Childhood Social, Emotional, and Behavioral Developmental Ontology Artificial Intelligence

There is a wide array of existing instruments used to assess childhood behavior and development for the evaluation of social, emotional and behavioral disorders. Many of these instruments either focus on one diagnostic category or encompass a broad set of childhood behaviors. We built an extensive ontology of the questions associated with key features that have diagnostic relevance for child behavioral conditions, such as Autism Spectrum Disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and anxiety, by incorporating a subset of existing child behavioral instruments and categorizing each question into clinical domains. Each existing question and set of question responses were then mapped to a new unique Rosetta question and set of answer codes encompassing the semantic meaning and identified concept(s) of as many existing questions as possible. This resulted in 1274 existing instrument questions mapping to 209 Rosetta questions creating a minimal set of questions that are comprehensive of each topic and subtopic. This resulting ontology can be used to create more concise instruments across various ages and conditions, as well as create more robust overlapping datasets for both clinical and research use.