Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function.

PURPOSE: The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations. METHOD: Children aged 7-16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as "proximal" and "distal" site mutation groups to compare the cognitive and emotional-behavioural outcomes. RESULTS: The children with DMD and typically developing children were similar in terms of age and body mass index (p > 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p < 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p < 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p < 0.05). CONCLUSIONS: It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas. CLINICAL TRIAL REGISTRATION NUMBER: NCT05661071.

A New Instrument to Assess Dynamic Balance in Children with Duchenne Muscular Dystrophy: Four Square Step Test and Its Validity, Reliability and Feasibility.

AIM: The aim of this study was to investigate validity, reliability and feasibility of the Four Square Step Test (FSST) in children with Duchenne Muscular Dystrophy (DMD). METHODS: The study included 44 children with DMD aged 5-12 years. The functional level of the children was determined by using the Brooke Lower Extremity Functional Classification (BLEFC). The concurrent validity of the FSST, a dynamic balance assessment, was investigated by analyzing the association between FSST and Timed Up and Go Test (TUG), North Star Ambulatory Assessment (NSAA) and Six-Minute Walk Test (6MWT) distance. The intra- and inter-rater reliability of the FSST was determined by using the Intra Class Correlation Coefficient (ICC) while the feasibility of the test was determined by calculating the percentage of children who successfully completed the test in accordance with the test instructions. RESULTS: The FSST score of the children (mean age 9.25 ± 2.14 years) was 11.91 ± 3.43 and the BLEFC level ranged from Level 1 (65.9%) to Level 3 (9.1%). FSST had positive, moderate relation with BLEFC (r = 0.447; p = .002); positive, strong relation with TUG (rs = 0.623), and negative, moderate correlations with NSAA (rs = -0.529) and 6MWT distance (rs = -0.592) (p < .001). Intra-rater (ICC: 0.965) and inter-rater (ICC: 0.991) reliability was "excellent," and the test was feasible with successful performance of 88% children. DISCUSSION: The FSST is a valid, reliable and feasible instrument to assess dynamic balance as well as having the ability to reflect falling risk and different functional levels of children with DMD.