Effect of task difficulty on dual-task cost during dual-task walking in people with multiple sclerosis.

BACKGROUND: Cognitive-motor dual-task walking results a decrease in walking performance of patients with multiple sclerosis (PwMS) and it is known as dual-task cost (DTC). However, there is a lack of evidence about the effects of dual-tasks with hierarchical difficulty on DTC in PwMS. RESEARCH QUESTION: This study aimed to investigate the effect of task difficulty on DTC during cognitive-motor dual-task walking in people with multiple sclerosis (PwMS). METHODS: 32 PwMS and 32 healthy controls were included. The 6-meter walking test (6-Meter WT) with comfortable speed was used as single-task walking condition. For dual-task conditions, walking tasks and cognitive tasks at two difficulty levels (simple and difficult) were combined and DTC for four cognitive-motor dual-task walking conditions as simple motor-simple cognitive (SM-SC), simple motor-difficult cognitive (SM-DC), difficult motor-simple cognitive (DM-SC) and difficult motor-difficult cognitive (DM-DC) were calculated. The 6-Meter WT was used also for simple dual-task walking task. The 6-Meter WT was applied by walking in a narrow base condition for creating a difficult dual-task walking task. For cognitive task difficulty, participants were asked to count backwards by 3 as simple cognitive task and by 7 as difficult cognitive task. RESULTS: DTC was higher in PwMS than control subjects. DTC in all conditions were different (SM-SC

Reliability and Validity of the Trunk Control Measurement Scale in Children With Duchenne Muscular Dystrophy.

While trunk control is essential for daily activities and motor function, there is currently sparse information regarding the psychometric properties of the outcome measures used for assessing trunk control in Duchenne muscular dystrophy (DMD), characterized by proximal muscle weakness. The Trunk Control Measurement Scale (TCMS) was developed to assess trunk control in children with cerebral palsy. We aimed to examine the reliability and validity of the Turkish version of the TCMS for children with DMD. We determined the functional level of 52 children with DMD (median age: 8.83 years) with the Vignos Scale, and we further evaluated them with the Motor Function Measure (MFM), a gold standard for determining the validity of the TCMS. Internal consistency of the Turkish TCMS was excellent with a Cronbach's alpha of .95. Intraclass correlation coefficient (ICC) values for intra-rater reliability were between 0.90-0.96 and for inter-rater reliability were between 0.91-0.95. We reported positive moderate to strong correlations between the TCMS and trunk flexors strength (p < .001, r = 0.77), back extensors strength (p < .001, r = 0.68) and MFM (p < .001, r = 0.85). Thus, we found the Turkish version of TCMS to be a reliable and valid instrument for assessing trunk control of children with DMD in clinical and research settings.

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.

The Impact of Postural and Anthropometric Properties of Foot and Ankle on Physical Performance and Ambulation of Patients with Duchenne Muscular Dystrophy.

BACKGROUND: Abnormal foot anthropometry and posture of patients with Duchenne Muscular Dystrophy (DMD) can be considered as possible risk factors for performance and ambulation. It was aimed to examine the effects of foot posture and anthropometric characteristics, which deteriorated from the early period, on ambulation and performance of patients with DMD. METHODS: The foot arch height (FAH), the metatarsal width (MW), subtalar pronation angle, and ankle limitation degree (ALD) were evaluated to determine the foot anthropometric characteristics of the patients. Foot Posture Index-6 (FPI-6) was used to evaluate foot posture. The performance of the patients was determined by the 6-minute walk test (6MWT), the 10-meter walk test (10MWT), and ascend/descend a standard 4-step test, and the ambulation was determined by the North Star Ambulatory Assessment (NSAA). Spearman's correlation coefficient was calculated to assess the relationship between foot anthropometric characteristics and posture, and performance and ambulation. RESULTS: The sample consisted of 48 patients with DMD aged 5.5 to 12 years. Both of the right and left foot FPI-6 scores were associated with all parameters, except descending 4-step. The left FAH was associated with 6MWT and NSAA, and the left MW was associated with 6MWT. The ALD of right foot was associated with 6MWT, ascending/descending 4 steps, and NSAA, and left ankle limitation was associated with NSAA (p<0.05). There was no relationship between other parameters. CONCLUSIONS: These findings suggest that postural disorders in the foot and ankle may contribute to the decrease in performance and ambulation in patients with DMD.

Effects of cycling training on balance and gait in children with Duchenne muscular dystrophy: A randomized controlled study.

BACKGROUND AND AIMS: Although aerobic exercises such as cycling and swimming are increasingly being recommended in Duchenne muscular dystrophy (DMD), their effect on gait and balance parameters is unclear. This study was aimed to investigate the effect of cycling training on balance and spatio-temporal gait parameters in children with DMD. METHODS: Ambulant children (age range: 6.17-11.33 years) were randomly divided into two groups: home-based exercise training applied in the control group (n = 12) while 12 weeks of supervised submaximal lower extremity cycling training in addition to home-based exercise training performed in the study group (n = 11). Gait and balance parameters were evaluated using the GAITRite electronic walkway system and the Bertec Balance Check Screener™, respectively. Assessments were applied before and after 12 weeks of training. RESULTS: The mean ages of the children in the study and control groups were 8.20 (SD:1.34) and 8.86 (SD:1.30) years, consecutively (p > 0.05). Considering the baseline values, the balance and spatio-temporal gait parameters of the children were similar except for the antero-posterior postural sway on the perturbed surface with eyes open (p > 0.05). There was a significant time x group interaction effect in favor of the study group for the antero-posterior postural sway of children on the normal surface with eyes open (F (1,58) = 12.62, p = 0.002). It was found that the antero-posterior postural sway on the normal surface with eyes open was improved in the study group within group comparison (F (1,10) = 8.50, p = 0.015). CONCLUSIONS: The study showed that both the cycling and the home-based exercise training groups may maintain gait and balance parameters during the study. Adding a cycling training to the rehabilitation program can also provide additional contribution to improve antero-posterior balance.

Sleep quality and daytime sleepiness amongst family caregivers of children with Spinal Muscular Atrophy.

BACKGROUND: While there are limited studies focusing on sleep quality of family caregivers of children with Spinal Muscular Atrophy (SMA), there are no studies on daytime sleepiness in SMA. AIMS: This study aimed a) to compare the sleep quality and daytime sleepiness between caregivers of children with SMA and those of healthy peers and b) to investigate the sleep quality and daytime sleepiness of family caregivers of children with different types of SMA. METHODS AND PROCEDURES: This study included 30 family caregivers of children with SMA (SMA Type 1:12, SMA Type 2:10, and SMA Type 3:8) and 31 family caregivers of healthy peers. Sleep quality and daytime sleepiness of family caregivers were evaluated using the Pittsburg Sleep Quality Index (PSQI) and the Epworth Sleepiness Scale (EPS), consecutively. OUTCOMES AND RESULTS: Demographic characteristics of children with SMA and healthy peers were similar (p > 0.05). The mean ages of family caregivers of children with SMA and healthy peers were 36.07 ± 5.84 and 35.26 ± 5.02 years, respectively (p = 0.6). The PSQI scores of family caregivers of children with SMA (7.50 ± 3.90 points) were lower than those of healthy peers (4.09 ± 1.97 points) (p < 0.001). There was no difference in PSQI scores between SMA types (p = 0.8). Also, no difference was found between SMA types and between SMA and healthy peers in terms of EPS (p > 0.05). CONCLUSIONS AND IMPLICATIONS: Family caregivers of children with SMA had poor sleep quality but similar daytime sleepiness compared with those of healthy peers. Among SMA types, family caregivers had similar sleep quality and daytime sleepiness. It was demonstrated that the sleep quality of family caregivers should be taken into consideration in the disease management of SMA.

Motor imagery ability of children with duchenne muscular dystrophy: Reliability and validity of kinesthetic and Visual Imagery Questionnaire-10, and its association with cognitive status.

PURPOSE: To investigate validity and reliability of the Kinesthetic and Visual Imagery Questionnaire-10 (KVIQ-10) in children with Duchenne Muscular Dystrophy (DMD), to compare the motor imagery (MI) ability with age-matched controls, and to examine the relationship between MI ability and cognitive status. METHODS: The research involved 38 children who were diagnosed with DMD, as well as 20 healthy controls aged between 7 and 18 years. The KVIQ-10 was assessed for its test-retest reliability, internal consistency, construct and concurrent validity. The Motor Imagery Questionnaire for Children (MIQ-C) was selected as the gold standard test for concurrent validity. Cognitive function was assessed using the Modified Mini Mental Test (MMMT) and Montreal Cognitive Assessment (MoCA). RESULTS: KVIQ-10 showed excellent test-retest reliability (ICC>0.90) and high internal consistency (Cronbach's alpha>0.70). A moderate-to-strong association was found between KVIQ-10 and MIQ-C subscales (p < 0.001). KVIQ-10 and MIQ-C subscores were statistically lower in the DMD group (p ≤ 0.05). A correlation was found between MoCA and KVIQ-10 in children with DMD (p ≤ 0.05). CONCLUSIONS: The KVIQ-10 is a reliable and valid measure to assess the MI ability of children with DMD whose imagery ability was determined to be impaired. CLINICAL TRIAL REGISTRATION NUMBER AND URL: NCT05559710 (https://classic. CLINICALTRIALS: gov/ct2/show/NCT05559710?term=NCT05559710&draw=2&rank=1).

Koumiss and immunity: A thorough investigation of fermentation parameters and their impact on health benefits.

The aim of this study was to determine the components and cytokine and immunoglobulin levels of koumiss during different fermentation periods, and to reveal the interrelation between these parameters. For achieving this objective, 10 samples of koumiss were prepared and randomly divided into 2 groups: the first group was sampled at 0, 1, 5, 12, and 24 h of incubation at room temperature for analysis. The second group was stored at +4°C, and samples were taken on d 5, 10, 15, and 20. The counts of Enterobacteriaceae spp., Staphylococcus, and Micrococcus spp. progressively decreased with the period of fermentation until becoming undetectable in the final samples of both groups. We fond positive or negative correlations between cytokine and immunoglobulin levels and the physicochemical and microbiological parameters in the koumiss samples in both groups. However, the levels of IFN-γ, IL-2, TNF-α, and IgG did not change significantly over time in both groups. Overall, it is clear that traditionally prepared koumiss under different fermentation times and temperatures does not show any differences in cytokine and immunoglobulin concentrations.

Metrisor: A novel diagnostic method for metritis detection in cattle based on machine learning and sensors.

The Metrisor device has been developed using gas sensors for rapid, highly accurate and effective diagnosis of metritis. 513 cattle uteri were collected from abattoirs and swabs were taken for microbiological testing. The Metrisor device was used to measure intrauterine gases. The results showed a bacterial growth rate of 75.75 % in uteri with clinical metritis. In uteri positive for clinical metritis, the most commonly isolated and identified bacteria were Trueperella pyogenes, Fusobacterium necrophorum and Escherichia coli. Measurements taken with Metrisor to determine the presence of metritis in the uterus yielded the most successful results in evaluations of relevant machine learning algorithms. The ICO (Iterative Classifier Optimizer) algorithm achieved 71.22 % accuracy, 64.40 % precision and 71.20 % recall. Experiments were conducted to examine bacterial growth in the uterus and the random forest algorithm produced the most successful results with accuracy, precision and recall values of 78.16 %, 75.30 % and 78.20 % respectively. ICO also showed high performance in experiments to determine bacterial growth in metritis-positive uteri, with accuracy, precision and recall values of 78.97 %, 77.20 % and 79.00 %, respectively. In conclusion, the Metrisor device demonstrated high accuracy in detecting metritis and bacterial growth in uteri and could identify bacteria such as E. coli, S. aureus, coagulase-negative staphylococci, T. pyogenes, Bacillus spp., Clostridium spp. and F. necrophorum with rates up to 80 %. It provides a reliable, rapid and effective means of detecting metritis in animals in the field without the need for laboratory facilities.

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an embryonic role of CELSR3 in CNS and urinary tract formation.

The effect of deep brain stimulation on lower extremity dexterity in people with Parkinson's disease.

PURPOSE: To examine the effect of deep brain stimulation (DBS) on lower extremity dexterity in people with Parkinson's disease (PwPD) and to investigate the relationship between this effect and the effect of DBS on measures of different walking characteristics, and other features of Parkinson's disease. MATERIALS AND METHODS: Thirty-six PwPD were included. Assessment was performed twice with DBS "on" and DBS "off" state. RESULTS: The LEDT scores of both extremities, the Unified Parkinson Disease Rating Scale-motor section (UPDRS-III), the 10-Meter Walk Test (TMWT), the Timed Up and Go Test (TUG), the Figure-of-Eight Walk Test (FEWT), and the Three-Meter Backward Walk Test (TMBWT) scores were significantly better in "on" DBS condition than "off" DBS condition. The effect of DBS on lower extremity dexterity is related to age and levodopa equivalent daily dosage (LEDD). The effect of DBS on lower extremity dexterity and the effect of DBS on the bradykinesia, TUG, the FEWT, and the TMBWT were also related. CONCLUSIONS: DBS has a positive effect on lower extremity dexterity. Clinical characteristics such as age and LEDD and the effect of DBS on bradykinesia, walking with turning, curved walking, and backward walking is related with the effect of DBS on lower extremity dexterity.

The age and levodopa equivalent daily dosage values of the patients should be considered when examining lower extremity dexterity in people with Parkinson's disease who have undergone deep brain stimulation (DBS).It may be beneficial to apply exercises to improve lower extremity dexterity for patients whose symptoms of bradykinesia do not progress as expected after DBS.Applying exercises to improve lower extremity dexterity may also be beneficial for patients who have complex walking deficits after DBS.

Development of a new instrument to evaluate gait characteristics of individuals with Duchenne Muscular Dystrophy: Gait Assessment Scale for Duchenne Muscular Dystrophy, and its validity and reliability.

BACKGROUND: Patients with Duchenne Muscular Dystrophy (DMD) have gait disorders. Therefore, specific gait assessment tools are needed. AIMS: The aim of this study was to develop a gait assessment instrument for DMD patients (DMD-GAS), and investigate its validity and reliability. STUDY DESIGN: The scale was developed considering the expert opinions which included 10 physiotherapists who had experience in the management of patients with DMD, and the Content Validity Index (CVI) was calculated. The final version of the DMD-GAS that was agreed upon the experts consisted of 10 items, and each item scored between 0 and 2. The intra-rater reliability was established by the video analysis of children with a 1-month interval and inter-rater reliability was determined by the scores of 3 physiotherapists. SUBJECTS: The study included 56 patients with DMD. OUTCOME MEASURES: The criterion validity was determined by investigating the relationship between the total score of the DMD-GAS and Motor Function Measure (MFM), 6 Minute Walk Test (6MWT), and the data obtained from GAITRite. RESULTS: The CVI of the DMD-GAS was 0.90 (p < 0.05). The construct validity and internal consistency of the DMD-GAS were excellent as well as the intra- and inter-rater reliability (>0.90). Moderate-to-very strong correlations were found between the total score of the DMD-GAS and the MFM-total score (r = 0.78), 6MWT (r = 0.71), gait speed (r = 0.50), stride length (r = 0.56), and base of support (r = -0.70) (p < 0.01). CONCLUSIONS: The results indicated that DMD-GAS was a reliable and valid instrument to determine gait characteristics of the patients with DMD in clinical settings. CLINICAL TRIAL NUMBER: NCT05244395.

The effects of novel electrical teat dipping on some mastitis parameters in dairy herds.

Electrical teat dipping (ETD) is a novel, patented method developed by the authors to control mastitis in dairy cows. Here we evaluate the efficacy of ETD in reducing the incidence of clinical mastitis and bulk tank milk somatic cell count (BTMSCC) on three dairy farms over 6 months. ETD was applied for morning and evening milking on three farms, while conventional teat dipping (CTD) was applied on the other three farms. The number of animals and quarters with clinical mastitis and monthly BTMSCC measurements were recorded. We found that the incidence of clinical mastitis was lower on farms using ETD than those using CTD. However, the BTMSCC did not significantly change throughout the study. Based on these findings, we conclude that ETD effectively reduces mastitis rates on dairy farms.

Comparison of dual-task costs during different types of walking in people with Parkinson's disease: a controlled study.

INTRODUCTION: Many of the activities in daily living require different walking skills such as straight walking (SW), walking with turning (WwT), curved walking (CW) or backward walking (BW) in a dual-task condition. However, there is a lack of evidence regarding the dual task cost (DTC) during different types of walking. Therefore, this study was planned to compare the DTC during different types of walking in people with Parkinson's disease (PwPD) and healthy controls. METHODS: Thirty-one PwPD and 31 healthy controls were included. Different types of walking were assessed using the 10-Meter Walk Test for SW, the Timed Up and Go Test for WwT, the Figure-of-Eight Walk Test for CW, and the Three-Meter Backward Walk Test for BW. Walking assessments were performed in a single-task and a dual-task condition. RESULTS: The DTC on SW was the lowest in both groups. The DTC on WwT, BW, and CW were similar in healthy controls, whereas the order of the DTC on remaining walking types from lowest to highest was; WwT, BW, and CW in PwPD. Also, the DTC on WwT, BW, and CW were higher in PwPD than healthy controls. However, the DTC on SW was similar in PwPD and healthy controls. CONCLUSION: The DTC is different during SW, WwT, BW, and CW in PwPD. Therefore, walking type should be considered in studies investigating dual task walking in PwPD. Also, dual task exercises consisting of different types of walking should be included in rehabilitation programs of PwPD.

The relationship between Th1/Th2 cytokine polarization and milk composition in the postnatal period in Kyrgyz mares and foals.

Immune compatibility between mare and foal is one of the important topics of reproductive immunology. At this point, although there are many studies on antibodies, there are not many publications on the relationship between the cytokine levels of mare, foal and milk and the effects of milk composition on this relationship. Here we investigate the relationship between Th1/Th2 cytokine balance and milk composition in Kyrgyz mares and foals. Samples were taken soon after the foal was born and on days 5, 10 and 20 after birth. Th1 (IFN-γ, IL-2, TNF-α) and Th2 (IL-4, IL-5, IL-10) cytokine levels in blood samples were measured using a commercial ELISA kit. Dry matter, fat, protein and non-fat dry matter ratios were determined in the mare's milk and colostrum. We detected no Th1/Th2 polarization in the mare's milk on the day of the foal's birth (day 0) and day 10, but there was Th1 polarization on day 5 and Th2 cytokine polarization on day 20. There was no polarization in the blood sera of the mares on days 0, 5, and 10, and Th1 cytokine polarization was also detected on day 20. We detected no Th1/Th2 cytokine polarization in the blood sera of the foals on any of the days. Dry matter (19.66 ± 0.39%), protein (16.56 ± 0.18%), fat (2.13 ± 0.17), and non-fat dry matter (17.59 ± 0.44%) were higher in colostrum than the other days. When the correlations between cytokine levels in milk samples and milk composition were examined, there was a positive correlation between IL-5 level and protein ratio on day 10. We detected a positive correlation between IL-2 level and the fat rate on day 20. There was a positive correlation between the IL-2 level and the non-fat dry matter ratio on day 20. Further studies are now needed to determine the relationship between the changes in the composition of mare's milk in the postnatal period and Th1/Th2 cytokine polarization in mares and foals at the time of birth and in the postnatal period. Our finding that protein and fat ratios in mare's milk in the postnatal period are positively correlated with IL-2 levels should be considered in terms of foal and human nutrition.

Dual task effect on upper and lower extremity skills in different stages of Parkinson's disease.

BACKGROUND AND PURPOSE: Loss of automaticity and deteriorated executive function give rise to dual task deficits in Parkinson's disease (PD). This study aimed to compare single task and dual task upper and lower extremity skills in people with PD (PwPD) at different stages of PD and to examine the dual task effect (DTE) on upper and lower extremity skills in PwPD at different stages of PD. The second aim was to investigate the relationship between the DTE and the quality of life in PwPD. METHODS: 30 patients divided into 2 groups as mild PD group and moderate PD group according to the Modified Hoehn & Yahr Scale. 15 age matched healthy adults were recruited as the control group. The Unified Parkinson's Disease Rating Scale (UPDRS), the Purdue Pegboard Test (PPT), the Timed Up and Go Test (TUG), the 10 Meter Walk Test (10MWT), and the Parkinson's Disease Questionnaire (PDQ-8) were used for assessments. RESULTS: Single task and dual task scores of all assessments of all groups were significantly different. The DTE on PPT was greater in mild and moderate PD groups than control group and significantly lower in mild PD group than moderate PD group. However, DTE on the TUG and 10MWT was not different in mild PD group than control group and DTE significantly lower in both groups than moderate PD group. Significant correlations between the DTE on PPT, TUG and 10MWT and the PDQ-8 in PwPD were observed. CONCLUSION: Dual task has a worsening effect on upper and lower extremity skills in PwPD. This effect can be observed earlier in upper extremity skills than lower extremity skills. Also, the DTE and the QoL in PwPD are related.

Validity and reliability of the Tampa Kinesiophobia-Fatigue Scale in patients with multiple sclerosis.

BACKGROUND: Kinesiophobia can be a barrier for physical activity in patients with multiple sclerosis (PwMS) and it can develop as a result of fear and avoidance reactions due to fatigue. However, there is no valid and reliable scale available to assess kinesiophobia due to fatigue in PwMS. AIMS: To investigate the test-retest reliability and construct validity of the Tampa Scale of Kinesiophobia-Fatigue (TSK-F) in PwMS. METHODS: Eighty-seven PwMS were included in the study. In addition to TSK-F, the following measurements were used for construct validity: Expanded Disability Status Scale (EDSS), Fatigue Severity Scale (FSS), Fatigue Impact Scale (FIS), 6-Minute Walking Test (6MWT), International Physical Activity Questionnaire (IPAQ), Beck Depression Inventory (BDI), Multiple Sclerosis Quality of Life Scale-54 (MSQoL-54). TSK-F was administered twice (3-7 days apart) to measure test-retest reliability. RESULTS: The intraclass correlation coefficient of the TSK-F was 0.867. It had a weak correlation with the IPAQ and EDSS, moderate correlation with the MSQoL-54 and 6MWT, and strong correlation with the BDI, FSS, and FIS (respectively, rho - 0.345, rho 0.365, rho 0.544, rho - 0.449, rho 0.690, rho 0.602, rho 0.650). The scale had good performance to discriminate the disease severity with the area under the curve (AUC) value 0.730. CONCLUSIONS: TSK-F has excellent reliability and moderate-to-good validity in evaluating kinesiophobia and the scale may be a useful outcome measurement for assessment of kinesiophobia due to fatigue in PwMS.

Examination of the relationship between foot-body posture and balance and gait in Duchenne muscular dystrophy.

BACKGROUND: Although the gait and balance disturbances of Duchenne muscular dystrophy (DMD) patients were evaluated by using different methods in literature, the impact of the foot and body posture on gait and balance has not been clearly described yet in DMD. AIM: The aim of this study was to examine the relationship between foot-body posture and gait and balance in patients with DMD. METHODS: Ambulatory patients with DMD who had > 90° range of motion at ankle joint were included in the study. Foot and body posture were evaluated with the Foot Posture Index (FPI-6) and the New York Posture Rating (NYPR). The limitation degree at the ankle joint (ALD) was recorded. Gait characteristics and balance were evaluated objectively by using the GAITRite system and the Bertec Balance Check Screener™ force platform system, respectively. RESULTS: A total of 38 ambulatory patients with DMD (age: 92.44 ± 17.91 months) were recruited. Both the right and left foot FPI-6 scores were correlated with GAITRite parameters such as ambulation time, gait speed, number of steps, and left and right stride lengths (p < 0.05). A relationship was determined between right foot FPI-6 score and anterior-posterior limits of stability (LoS) obtained by force platform (p < 0.05). NYPR score was also correlated with the postural control parameters such as left and right base of support and anterior posterior LoS (p < 0.05). CONCLUSION: The current findings indicate a contribution of foot and body posture to gait and balance disorders of children with DMD. CLINICAL TRIAL NUMBER: NCT04353167, Date of registration: April 16, 2020.

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.

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.

BACKGROUND: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system. METHODS: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development. RESULTS: In this study, we identified putative disease-causing SNVs and CNVs in SHROOM4 in six individuals from four families with congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems (CNS). Embryonic mouse and zebrafish expression studies showed Shroom4 expression in the upper and lower urinary tract, the developing cloaca, the heart and the cerebral CNS. KD studies in zebrafish larvae revealed pronephric cysts, anomalies of the cloaca and the heart, decreased eye-to-head ratio and higher mortality compared with controls. These phenotypes could be rescued by co-injection of human wild-type SHROOM4 mRNA and morpholino. CONCLUSION: The identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest SHROOM4 as a developmental gene for different organ systems.