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© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Fragile X syndrome (FXS) is caused by pathologic expansions of the CGG repeat polymorphic region of the FMR1 gene. There are two main categories of FMR1 mutations, “premutation” and “full mutation”, that are associated with different clinical phenotypes, and somatic mosaicism can represent a strong FXS phenotype modulator. FXS is the leading cause of inherited intellectual disability and autism, and it is characterized by musculoskeletal manifestations such as flexible flat feet, joint laxity and hypotonia. The former have been associated with altered joint kinematics and muscle activity during gait. The aim of this study was to use gait analysis parameters to classify FXS children from healthy controls and, within FXS children with full mutation, to classify children with mosaicism. Seven supervised machine learning algorithms were applied to a dataset of joint kinematics and surface electromyographic signals collected on twenty FXS children and sixteen controls. Results showed that the k-NN algorithm outperformed in terms of accuracy (100%) in classifying FXS children from controls, while CN2 rule induction obtained the best accuracy (97%) in classifying FXS children with mosaicism. The proposed pipeline might be used for developing assisted decision-making systems aiming at identifying and treating the musculoskeletal alterations associated with FXS.

Details

Title
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters
Author
Piatkowska, Weronika Joanna 1   VIAFID ORCID Logo  ; Spolaor, Fabiola 1   VIAFID ORCID Logo  ; Romanato, Marco 1 ; Polli, Roberta 2   VIAFID ORCID Logo  ; Huang, Alessandra 1 ; Murgia, Alessandra 2   VIAFID ORCID Logo  ; Sawacha, Zimi 3   VIAFID ORCID Logo 

 Department of Information Engineering, University of Padova, 35131 Padova, Italy; [email protected] (W.J.P.); [email protected] (F.S.); [email protected] (M.R.); [email protected] (A.H.) 
 Department of Women’s and Children’s Health, University of Padova, 35128 Padova, Italy; [email protected] (R.P.); [email protected] (A.M.); Istituto di Ricerca Pediatrica CDS, 35127 Padova, Italy 
 Department of Information Engineering, University of Padova, 35131 Padova, Italy; [email protected] (W.J.P.); [email protected] (F.S.); [email protected] (M.R.); [email protected] (A.H.); Department of Medicine, DIMED, University of Padova, 35128 Padova, Italy 
First page
1612
Publication year
2022
Publication date
2022
Publisher
MDPI AG
e-ISSN
20763417
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2636121315
Copyright
© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.