Background: There is a critical need for precision phenotyping across neurodevelopmental disorders, especially in individuals who receive a clinical diagnosis of autism spectrum disorder (ASD). Phelan-McDermid deletion syndrome (PMS) is one such example, as it has a high penetrance of ASD. At present, no biometric characterization of the behavioral phenotype within PMS exists.Methods: We introduce a data-type and statistical framework that permits the personalized profiling of naturalistic behaviors. Walking patterns were assessed in 30 participants (16 PMS, 3 idiopathic-ASD and 11 age- and sex-matched controls). Each individual's micro-movement signatures were recorded at 240 Hz. We empirically estimated the parameters of the continuous Gamma family of probability distributions and calculated their ranges. These estimated stochastic signatures were then mapped on the Gamma plane to obtain several statistical indexes for each child. To help visualize complex patterns across the cohort, we introduce new tools that enable the assessment of connectivity and modularity indexes across the peripheral network of rotational joints.Results: Typical walking signatures are absent in all children with PMS as well as in the children with idiopathic-ASD (iASD). Underlying these patterns are atypical leg rotational acceleration signatures that render participants with PMS unstable with rotations that are much faster than controls. The median values of the estimated Gamma parameters serve as a cutoff to automatically separate children with PMS 5–7 years old from adolescents with PMS 12–16 years old, the former displaying more randomness and larger noise. The fluctuations in the arm's motions during the walking also have atypical statistics that separate males from females in PMS and show higher rates of noise accumulation in idiopathic ASD (iASD) children. Despite high heterogeneity, all iASD children have excess noise, a narrow range of probability-distribution shapes across the body joints and a distinct joint network connectivity pattern. Both PMS and iASD have systemic issues with noise in micro-motions across the body with specific signatures for each child that, as a cohort, selectively deviates from controls.Conclusions: We provide a new methodology for precision behavioral phenotyping with the potential to use micro-movement output noise as a natural classifier of neurodevelopmental disorders of known etiology. This approach may help us better understand idiopathic neurodevelopmental disorders and personalize the assessments of natural movements in these populations.
Dyadic interactions are ubiquitous in our lives, yet they are highly challenging to study. Many subtle aspects of coupled bodily dynamics continuously unfolding during such exchanges have not been empirically parameterized. As such, we have no formal statistical methods to describe the spontaneously self-emerging coordinating synergies within each actor’s body and across the dyad. Such cohesive motion patterns self-emerge and dissolve largely beneath the awareness of the actors and the observers. Consequently, hand coding methods may miss latent aspects of the phenomena. The present paper addresses this gap and provides new methods to quantify the moment-by-moment evolution of self-emerging cohesiveness during highly complex ballet routines. We use weighted directed graphs to represent the dyads as dynamically coupled networks unfolding in real-time, with activities captured by a grid of wearable sensors distributed across the dancers’ bodies. We introduce new visualization tools, signal parameterizations, and a statistical platform that integrates connectivity metrics with stochastic analyses to automatically detect coordination patterns and self-emerging cohesive coupling as they unfold in real-time. Potential applications of these new techniques are discussed in the context of personalized medicine, basic research, and the performing arts.
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