Clinical and instrumental phenotyping of gait in subjects with Cri du Chat syndrome
Year: 2026
Type: article
Study design: Observational Study
Abstract: Background Cri du Chat syndrome (CdCS) is a rare genetic disorder characterized by disabling psychomotor and gait impairments. The aim of this study is to assess and characterize CdCS gait through a comprehensive and validated set of trunk acceleration-derived gait indexes by means of inertial gait analysis. Methods In this cross-sectional study, we enrolled 38 CdCS individuals (age 22.6 [18.4–26.0] years, 52.6% females) and 39 healthy subjects (HS) matched for age, sex and speed of gait. Besides the conventional spatio-temporal parameters we calculated: the harmonic ratio (HR, primary outcome), the largest Lyapunov exponent for short time-series (sLLE), the percent determinism in recurrence quantification analysis (RQA). Results 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 individuals, we also found a higher stride time, along with a lower cadence and range of pelvic obliquity during gait ( p < 0.025 for all comparisons). Logistic regression analysis identified HR and RQA in the antero-posterior plane and the range of pelvic obliquity as the independent and most relevant features able to differentiate gait of CdCS subjects from HS. Conclusions Our study provides a comprehensive description of CdCS gait pattern, predominantly characterized by reduced symmetry, rhythmicity, and stability. Trial registration : The study protocol was approved by local Ethical Committee (CE Pavia, Approval Number: 2022-3.11/797) and pre-registered on www.clinicaltrials.gov (NCT05887739).
Authors: Beatrice Agostini, Gloria Vaghi, Michele Corrado, Valentina Grillo, Luca Martinis, Marina Gjini, Ilaria Campese, Martina Giraudo, Francescantonio Cammarota, Sabrina Ravaglia, Michele Giovanni Croce, Valentina De Giorgis, Davide Politano, Stefano Filippo Castiglia, Dante Trabassi, Mariano Serrao, Cesare Danesino, Andrea Guala, Cristina Tassorelli, Roberto De Icco, the “ABC Study Group”, Baldo Chiara, Cistaro Angelina, Dolci Claudia, Ferretti Alessandro, Liverani Maria Elena, Malacarne Michela, Mauri Sabrina, Mazzocca Matelda, Medolago Luilena, Pedrinazzi Marilena, Piovani Giovanna, Schiera Irene, Sforza Chiarella, Sforza Elisabetta, Tognon Fabio
Language: English
Field: Health Professions
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,990
Funder: Ministero della Salute
Award: G6168855936
OpenAlex ID: W7204192732
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