Clinical and instrumental gait phenotyping in subjects with Cri du Chat Syndrome

This is a cross sectional, case-control, study enrolling 38 subjects (age 22.6 [18.4 – 26.0] years, 52.6% females) with a diagnosis of CdCS among those attending the network of the italian scientific association of Cri Du Chat individuals (ABC association). We enrolled 39 healthy subjects (HS) matched by age, sex and gait speed. Every subject performed inertial gait analysis, from which we derived spatio-temporal and trunk acceleration-derived gait indexes, such as harmonic ratio (HR), largest Lyapunov exponent (sLLE), log-dimensionless jerk score of accelerations (LDLJa), and stride length variability (CV). Compared to HS, CdCS gait was characterized by lower HR (CdCS: 1.6 [1.4 – 1.7] vs. HS: 2.6 [2.4 – 2.7], p=0.001), lower RQA (p=0.001) and higher sLLE (p=0.001). In CdCS participants, we also found an higher stride time, along with a lower cadence and range of motion of pelvic obliquity during gait (p < 0.025 for all comparisons). According to a logistic regression, HR and RQA in the antero-posterior plane, and range of pelvic obliquity were independently associated with CdCS diagnosis. Our study provided a comprehensive description of CdCS gait pattern, predominantly characterized by reduced symmetry, rhythmicity, dynamic and stability.