Smartwatches provide technology-based assessments in Parkinson’s Disease (PD). It is necessary to evaluate their reliability and accuracy in order to include those devices in an assessment. We present unique results for sensor validation and disease classification via machine learning (ML). A comparison setup was designed with two different series of Apple smartwatches, one Nanometrics seismometer and a high-precision shaker to measure tremor-like amplitudes and frequencies. Clinical smartwatch measurements were acquired from a prospective study including 450 participants with PD, differential diagnoses (DD) and healthy participants. All participants wore two smartwatches throughout a 15-min examination. Symptoms and medical history were captured on the paired smartphone. The amplitude error of both smartwatches reaches up to 0.005 g, and for the measured frequencies, up to 0.01 Hz. A broad range of different ML classifiers were cross-validated. The most advanced task of distinguishing PD vs. DD was evaluated with 74.1% balanced accuracy, 86.5% precision and 90.5% recall by Multilayer Perceptrons. Deep-learning architectures significantly underperformed in all classification tasks. Smartwatches are capable of capturing subtle tremor signs with low noise. Amplitude and frequency differences between smartwatches and the seismometer were under the level of clinical significance. This study provided the largest PD sample size of two-hand smartwatch measurements and our preliminary ML-evaluation shows that such a system provides powerful means for diagnosis classification and new digital biomarkers, but it remains challenging for distinguishing similar disorders.

ObjectiveBest-practice data models harmonize semantics and data structure of medical variables in clinical or epidemiological studies. While there exist several published data sets, it remains challenging to find and reuse published eligibility criteria or other data items that match specific needs of a newly planned study or registry. A novel Internet-based method for rapid comparison of published data models was implemented to enable reuse, customization, and harmonization of item catalogs for the early planning and development phase of research databases.MethodsBased on prior work, a European information infrastructure with a large collection of medical data models was established. A newly developed analysis module called CDEGenerator provides systematic comparison of selected data models and user-tailored creation of minimum data sets or harmonized item catalogs. Usability was assessed by eight external medical documentation experts in a workshop by the umbrella organization for networked medical research in Germany with the System Usability Scale.ResultsThe analysis and item-tailoring module provides multilingual comparisons of semantically complex eligibility criteria of clinical trials. The System Usability Scale yielded “good usability” (mean 75.0, range 65.0–92.5). User-tailored models can be exported to several data formats, such as XLS, REDCap or Operational Data Model by the Clinical Data Interchange Standards Consortium, which is supported by the US Food and Drug Administration and European Medicines Agency for metadata exchange of clinical studies.ConclusionThe online tool provides user-friendly methods to reuse, compare, and thus learn from data items of standardized or published models to design a blueprint for a harmonized research database.

Background: Due to the highly variable clinical phenotype, Klinefelter Syndrome is underdiagnosed.Objective: Assessment of supervised machine learning based prediction models for identification of Klinefelter Syndrome among azoospermic patients, and comparison to expert clinical evaluation. Materials and methods:Retrospective patient data (karyotype, age, height, weight, testis volume, follicle-stimulating hormone, luteinizing hormone, testosterone, estradiol, prolactin, semen pH and semen volume) collected between January 2005 and June 2019 were retrieved from a patient data bank of a University Centre. Models were trained, validated and benchmarked based on different supervised machine learning algorithms. Models were then tested on an independent, prospectively acquired set of patient data (between July 2019 and July 2020). Benchmarking against physicians was performed in addition.Results: Based on average performance, support vector machines and CatBoost were particularly well-suited models, with 100% sensitivity and >93% specificity on the test dataset. Compared to a group of 18 expert clinicians, the machine learning models had significantly better median sensitivity (100% vs. 87.5%, p = 0.0455) and fared comparably with regards to specificity (90% vs. 89.9%, p = 0.4795), thereby possibly improving diagnosis rate. A Klinefelter Syndrome Score Calculator based on the prediction models is available on http://klinefelter-score-calculator.uni-muenster.de.Discussion: Differentiating Klinefelter Syndrome patients from azoospermic patients with normal karyotype (46,XY) is a problem that can be solved with supervised machine learning techniques, improving patient care.Conclusions: Machine learning could improve the diagnostic rate of Klinefelter Syndrome among azoospermic patients, even more for less-experienced physicians.

Machine learning algorithms become increasingly prevalent in the field of medicine, as they offer the ability to recognize patterns in complex medical data. Especially in this sensitive area, the active usage of a mostly black box is a controversial topic. We aim to highlight how an aggregated and systematic feature analysis of such models can be beneficial in the medical context. For this reason, we introduce a grouped version of the permutation importance analysis for evaluating the influence of entire feature subsets in a machine learning model. In this way, expert-defined subgroups can be evaluated in the decision-making process. Based on these results, new hypotheses can be formulated and examined.

Parkinson’s disease (PD) is a common neurodegenerative disorder that severely impacts quality of life as the condition progresses. Early diagnosis and treatment is important to reduce burden and costs. Here, we evaluate the diagnostic potential of the Non-Motor symptoms (NMS) questionnaire by the International Parkinson and Movement Disorder Society based on patient-completed answers from a large single-center prospective study. In this study data from 489 study participants consisting of a PD group, a healthy control (HC) group and patients with differential diagnosis (DD) have been recorded with a smartphone-based system. Evaluation of the study data has shown a significant difference in NMS between the representative groups. Cross-validation of Machine Learning based classification achieves balanced accuracy scores of 88.7% in PD vs. HC, 72.1% in PD vs. DD and 82.6% when discriminating between all movement disorders (PD + DD) and the HC group. The results indicate potentially high feature importance of a simple self-administered questionnaire that could support early diagnosis.