GenIDA is an international patient registry for individuals diagnosed with intellectual disability, autism spectrum disorder, and/or epilepsy, which is based on an online questionnaire that is completed by parent caregivers. In this study, the GenIDA data on Koolen-de Vries syndrome (KdVS) was analyzed illustrating the value of GenIDA and patient/caregiver participation in rare genetic neurodevelopmental disorders (NDDs). Recruitment was done on the GenIDA website from November 2016 to February 2022. Clinical information on individuals with KdVS was extracted for in-depth analysis and for comparison with the GenIDA data of individuals diagnosed with other NDDs. A total of 1417 patients/caregivers across 35 genetic conditions answered to the GenIDA questionnaire, including caregivers of 237 individuals with KdVS. GenIDA findings on KdVS were consistent with the existing literature, and there were no significant differences between individuals with a 17q21.31 microdeletion and those with a pathogenic variant in the KANSL1 gene. GenIDA provided detailed clinical information including features that are over-represented in KdVS compared with other NDDs (eg, laryngomalacia). Modeling of the natural history showed a positive development of speech and language over time and relatively good reading ability in KdVS. Valproate and oxcarbazepine were reported as effective antiepileptic drugs, and responses to open-ended questions indicated that childhood recurrent pneumonia and asthma are clinically relevant comorbidities that were not described in KdVS before. GenIDA is a powerful registry to collect and harness valuable data on rare NDDs. The study shows that caregiver-driven data collection is effective in terms of global recruitment and centralization of clinical data.

Spectral graph theory delves into graph properties through their spectral signatures. The eigenvalues of a graph’s Laplacian matrix are crucial for grasping its connectivity and overall structural topology. This research capitalizes on the inherent link between graph topology and spectral characteristics to enhance spectral graph analysis applications. In particular, such connectivity information is key to detect low signals that betray the occurrence of cyberattacks. This paper introduces SpectraTW, a novel spectral graph analysis methodology tailored for monitoring anomalies in network traffic. SpectraTW relies on four spectral indicators, Connectedness, Flooding, Wiriness, and Asymmetry, derived from network attributes and topological variations, that are defined and evaluated. This method interprets networks as evolving graphs, leveraging the Laplacian matrix’s spectral insights to detect shifts in network structure over time. The significance of spectral analysis becomes especially pronounced in the medical IoT domains, where the complex web of devices and the critical nature of healthcare data amplify the need for advanced security measures. Spectral analysis’s ability to swiftly pinpoint irregularities and shift in network traffic aligns well with the medical IoT’s requirements for prompt attack detection.