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).

Pilomatricoma Growing at the SARS-CoV-2 mRNA Vaccination Site.

A healthy 21-year-old woman was presented to our outpatient clinic with an asymptomatic swelling on her left arm. She reported the administration of two doses of BNT162b2 mRNA vaccination at the lesion site earlier. The pathology report confirmed the diagnosis of pilomatricoma. Previously, needlestick trauma and various immunisations have been attributed to the development of pilomatricoma. We present this case to emphasise the possible association between BNT162b2 mRNA vaccination and pilomatricoma development. The role of persistent inflammation is also discussed.

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.

Bladder paraganglioma treated with open partial cystectomy: a case report.

BACKGROUND: Bladder paraganglioma is a neuroendocrine tumor that accounts for less than 0.1% of all bladder tumors. Symptoms caused by catecholamine release such as hypertension, palpitation, syncope, and macroscopic hematuria are the most common findings. Treatment modalities include transurethral resection, and partial or total cystectomy. CASE PRESENTATION: A 38-year-old Turkish female patient was examined for hematuria that had been persisting for 6 months. Among the clinical findings, only hematuria was present. Absence of adrenergic symptoms such as hypertension, palpitations, and syncope at the first presentation made it difficult to consider bladder paraganglioma in the differential diagnosis. Therefore, cystoscopy and transurethral resection were performed with the thought of urothelial cancer. Findings such as hypertension and bradycardia that developed during diagnostic transurethral resection suggested that it might be bladder paraganglioma. After the radiological evaluation and endocrinological preparation, the patient underwent partial cystectomy. CONCLUSION: The rarity of cases having been reported in the literature leads to uncertainties in the management of bladder paraganglioma. Adrenergic symptoms developing during transurethral resection should suggest paraganglioma in the differential diagnosis. A multidisciplinary approach and medical treatment are mandatory to prevent life-threatening complications such as hypertensive crisis, vascular collapse, and multiple-organ system failure. We aimed to report the clinical presentation that includes only macroscopic hematuria mimicking urothelial cancer and to emphasize the multidisciplinary approach in the treatment.

The Impact of "Fear of Falling" on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy.

OBJECTIVE: The aim of this study was to investigate falls and the fear of falling (FOF) in children with Duchenne muscular dystrophy (DMD) and to determine the relationships between the FOF and physical performance, balance, and ambulation. METHODS: Thirty-eight ambulatory children with DMD were included in the study. The functional level, falling history, FOF, physical performance, balance, and ambulation were assessed by using Brooke Lower Extremity Functional Classification, History of Falls Questionnaire, Pediatric Fear of Falling Questionnaire (Ped-FOF), timed performance tests, Timed "Up and Go" (TUG) test, and North Star Ambulatory Assessment (NSAA), respectively. RESULTS: Of the 38 children (mean age: 9.00 ± 2.03 years) 97.4% had a history of serious fall last year and 62.2% were injured due to this fall. The Ped-FOF score was 13.79 ± 7.20. Weak to moderate relations were determined between Ped-FOF and functional level (r = 0.33), frequency of falls (r = 0.41), duration of climbing 4-steps (r = 0.38), TUG (r = 0.36), and NSAA (r = -0.32) (p < 0.05). CONCLUSION: Ambulatory children with better performance scores had lower levels of FOF despite their history of serious falls and injuries. FOF tends to increase as the symptoms of the disease progresses. Investigating the history of falls and FOF from the earliest period will guide to take precautions and make necessary interventions on time in treatment programs.

Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy / Avaliação ultrassonográfica da arquitetura muscular dos membros inferiores em crianças com distrofia muscular de Duchenne em estágio inicial

ABSTRACT Background: Muscle imaging methods such as ultrasound and magnetic resonance imaging have been used for many years to determine the dystrophic process in muscular dystrophies. However, the knowledge regarding muscle architecture in children at early-stage Duchenne muscular dystrophy (DMD) with different functional levels is limited. Objective: To explore the effect of functional level on muscle architectural properties in children with early stage DMD and the difference between DMD and typically developing (TD) peers. Methods: Thirty children with DMD (15 Grade 1 and 15 Grade 2 according to the Vignos Scale) and 5 TD peers were included. Ultrasound imaging was used to measure muscle thickness (MT), fascicle length (FL), and pennation angle (PA) of vastus lateralis (VL) and medial gastrocnemius (MG) muscles bilaterally. Results: The MT and FL values for VL, and MT, FL and PA values for MG muscles were higher in children with DMD compared with those of TD peers (p<0.05). The FL of VL, and MT and FL of GM muscles of children with DMD Grade 2 were higher than those of children with DMD Grade 1 (p<0.05). Conclusions: MT and FL are increased in children with DMD compared with TD peers. Additionally, muscle architecture seems to be affected even at the early stages of the disease.

RESUMO Antecedentes: Métodos de imagem muscular, como ultrassom e ressonância magnética, têm sido usados há muitos anos para determinar o processo distrófico em distrofias musculares. No entanto, o conhecimento a respeito da arquitetura muscular em crianças com distrofia muscular de Duchenne (DMD) em estágio inicial, com diferentes níveis funcionais, é limitado. Objetivo: Explorar o efeito do nível funcional nas propriedades arquitetônicas do músculo em crianças com DMD em estágio inicial e a diferença entre DMD e seus pares em desenvolvimento típico (DT). Métodos: Trinta crianças com DMD (15 Grau 1 e 15 Grau 2 de acordo com a Escala de Vignos) e cinco colegas DT foram incluídos. A ultrassonografia foi usada para medir a espessura muscular (EM), o comprimento do fascículo (FL) e o ângulo de penetração (PA) dos músculos vasto lateral (VL) e gastrocnêmio medial (MG) bilateralmente. Resultados: Os valores de EM e FL para VL e os valores de EM, FL e PA para músculos MG foram maiores em crianças com DMD em comparação com os de seus pares DT (p<0,05). O FL do VL e o EM e o FL dos músculos GM de crianças com DMD Grau 2 foram maiores do que aqueles de crianças com DMD Grau 1 (p<0,05). Conclusões: TM e FL estão aumentados em crianças com DMD em comparação com seus pares DT. Além disso, a arquitetura muscular parece ser afetada mesmo nos estágios iniciais da doença.

Feasibility and Safety of Applying the Functional Electrical Stimulation to Child with Facioscapulohumeral Dystrophy: A Case Report.

AIMS: This study aims to investigate the feasibility and safety of short-term functional electrical stimulation (FES) training of the quadriceps femoris muscles in a child with facioscapulohumeral muscular dystrophy (FSHD). METHODS: A 7-year-old child with FSHD received treatment due to a decrease in functional performance and difficulty climbing stairs. The child was followed up with a home-based exercise program. FES was applied twice a week during stair climbing for six weeks. Muscle activation of the quadriceps femoris was measured using superficial electromyography, muscle strength was measured with a hand-held dynamometer, and functional performance was assessed with the 6-Minute Walk and the Stair Climb Tests before and after the treatment period. RESULTS: At the end of the treatment, there was an improvement in muscle activation. While muscle strength increased in the quadriceps femoris muscle of the non-dominant side, it remained constant on the dominant side. Functional performance test results also improved. CONCLUSIONS: FES was a feasible and safe tool to use in our case, a child with FSHD.

The effect of aerobic training on motor function and muscle architecture in children with Duchenne muscular dystrophy: A randomized controlled study.

OBJECTIVE: To explore the effects of aerobic training adding to home-based exercise program on motor function and muscle architectural properties in children with Duchenne muscular dystrophy. DESIGN: This is a prospective randomized controlled study. SETTING: Pediatric neuromuscular clinic in a tertiary care center. SUBJECTS: Children with Duchenne muscular dystrophy. INTERVENTIONS: Children were randomly divided into two groups whereby 12-weeks aerobic training was additionally given in treatment group in contrast to the control group which received only home-based exercise program. MAIN MEASURES: Motor Function Measure and Six Minute Walk Test were used for clinical evaluation, and muscle architectural properties (thickness, pennation angle and fascicle length) were measured by ultrasound imaging. Both groups were assessed at baseline and after 12-weeks of training. RESULTS: Median age of children was 7.9 years in the treatment group and 8.6 years in the control group (p > 0.05). Significant improvements were obtained for Motor Function Measure and Six Minute Walk Test from baseline to 12-weeks in the treatment group; Motor Function Measure total score changed from 83.2 (6.1) to 86.9 (4.0) vs. 82.3 (10.2) to 80.4 (9.4) points in the control group (p = 0.006); 6 Minute Walk Test distance changed from 395.3 (46.6) to 413.0 (52.3) vs. 421.7 (64.4) to 393.8 (68.2) meters in the control group (p < 0.001). However, muscle architectural parameters did not change during study period (p > 0.05). CONCLUSION: Aerobic training may be of additional value in improving motor function and performance with no remarkable effect on muscle architectural properties.

Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy.

BACKGROUND: Muscle imaging methods such as ultrasound and magnetic resonance imaging have been used for many years to determine the dystrophic process in muscular dystrophies. However, the knowledge regarding muscle architecture in children at early-stage Duchenne muscular dystrophy (DMD) with different functional levels is limited. OBJECTIVE: To explore the effect of functional level on muscle architectural properties in children with early stage DMD and the difference between DMD and typically developing (TD) peers. METHODS: Thirty children with DMD (15 Grade 1 and 15 Grade 2 according to the Vignos Scale) and 5 TD peers were included. Ultrasound imaging was used to measure muscle thickness (MT), fascicle length (FL), and pennation angle (PA) of vastus lateralis (VL) and medial gastrocnemius (MG) muscles bilaterally. RESULTS: The MT and FL values for VL, and MT, FL and PA values for MG muscles were higher in children with DMD compared with those of TD peers (p<0.05). The FL of VL, and MT and FL of GM muscles of children with DMD Grade 2 were higher than those of children with DMD Grade 1 (p<0.05). CONCLUSIONS: MT and FL are increased in children with DMD compared with TD peers. Additionally, muscle architecture seems to be affected even at the early stages of the disease.

The association between trunk control and upper limb functions of children with Duchenne muscular dystrophy.

Introduction: The aim of this study was to investigate whether trunk control is associated with the upper limb function of children with Duchenne Muscular Dystrophy (DMD).Methods: The children included in the study were divided into two groups according to the Trunk Control Measurement Scale total scores. Twenty-five children whose trunk control levels were lower than 30.5 points were included in Group 1 while 31 children who had good levels of trunk control between 30.5 and 58 points were included in Group 2. General functional levels, muscular strength, and function of the upper limb were assessed and compared between the groups.Results: According to the results of the assessments, children in Group 2 were found to have better upper limb function and muscular strength than Group 1 (p < .001).Conclusions: The current study demonstrated better upper limb functional performance of children with DMD that had good-level trunk control thus suggesting the possible association between trunk stability and upper limb function. The results reveal the need to improve and protect trunk muscle strength and stability as well as upper limb strength, and to optimize trunk stability during upper limb movement in rehabilitation programs.

Investigation of surface electromyography amplitude values during stair climbing task in children with Duchenne muscular dystrophy.

OBJECTIVE: The aims of this study were (a) to examine the surface electromyography (sEMG) amplitude values of the lower limb muscles during stair climbing both between different functional levels of Duchenne muscular dystrophy (DMD), in comparison with healthy children, and (b) to investigate the relationships between sEMG amplitudes and physical performance. METHODS: sEMG amplitudes of the lower limbs of twenty-one children with DMD between levels I and III according to the Brooke Lower Extremity Functional Classification Scale and eleven healthy peers were evaluated by using sEMG during stair climbing task. Physical performance was evaluated by 6-min walk test and ascending 4-step timed performance test. RESULTS: The lower limb sEMG amplitude values of children with DMD were statistically higher than healthy children (p < 0.001). sEMG amplitudes of the right (p = 0.01) and left (p = 0.003) biceps femoris, the right (p < 0.001) and left (p = 0.001) gastrocnemius medialis, and the right vastus lateralis (p = 0.02) muscles were higher in children with levels 2-3 than those in level 1. Moderate-to-strong relations were found between the gastrocnemius medialis and biceps femoris sEMG amplitudes and physical performance assessments (p < 0.05). CONCLUSION: Increased sEMG amplitude values in the lower limbs during stair climbing task are thought to be caused by the effort to compensate for progressive muscle weakness and are associated with lower physical performance in children with DMD. Further, sEMG amplitude values are determined to increase as the functional level deteriorates. CLINICAL TRIAL REGISTRATION NUMBER AND URL: NCT04287582 ( https://clinicaltrials.gov/ct2/show/NCT04287582?term=merve+bora&draw=2&rank=1 ).

Pulmonary and upper limbs function in children with early stage Duchenne muscular dystrophy compared to their healthy peers.

BACKGROUND: Pulmonary and upper limbs function of children with Duchenne muscular dystrophy (DMD) are known to deteriorate throughout the disease process. However, there is a lack of information on the extent of impairments in the early stages of DMD when compared to healthy peers. OBJECTIVE: To investigate to what extent pulmonary and upper limbs function of children with early stage DMD are impaired. METHODS: Sixty-one children participated in the study: 31 with Grade 1 DMD (study group) according to the Brooke Upper and Lower Extremity Functional Classification Systems, and 30 age matched healthy peers (control group). Pulmonary function was determined with pulmonary function tests. The Performance of Upper Limb test was used to evaluate the upper limbs function. RESULTS: Study and control groups were homogenous in terms of physical characteristics (p>0.05). Pulmonary and upper limbs function of children with DMD were about 85% and 93% of healthy peers, respectively. CONCLUSION: This study provides evidence for deterioration of pulmonary and upper limbs function in children with early stage DMD. Better knowledge of deterioration rate over time may help therapists to better plan and update their plan of care.

Kinesiology Taping in Duchenne Muscular Dystrophy: Acute Effects on Performance, Gait Characteristics, and Balance.

AIM: This study was aimed to investigate the acute effects of kinesiology taping (KT) on physical performance, gait characteristics, and balance in early-stage Duchenne Muscular Dystrophy (DMD). METHOD: Forty-five children at early functional level of DMD were included. 6-minute walk test (6MWT), and timed performance tests were performed; gait characteristics, and balance were assessed before and one hour after taping. KT was applied to bilateral quadriceps and tibialis anterior muscles. The comparison of assessments was performed by using Wilcoxon Signed Ranks test. RESULTS: Significant increase in the distance of 6MWT, decrease in the duration of descending 4 steps, and 10 m walk timed performance tests, improvements in all of the gait characteristics, and balance were determined after taping (p < .05). CONCLUSIONS: KT has positive acute effects on performance and gait of children with DMD at early functional level which encourages therapists to use KT as a complementary approach in rehabilitation programs.

Comparison of motor proficiency and functional ambulation in Duchenne muscular dystrophy with healthy peers.

AIMS: The study was aimed to investigate the difference between boys with Duchenne muscular dystrophy (DMD) and healthy peers in terms of gross and fine motor proficiency, and determine the relationship between motor proficiency and ambulation. METHODS: A total of 24 boys with DMD and 22 healthy peers were evaluated. Demographics and physical characteristics were recorded. The Bruininks Oseretsky Test of Motor Proficiency-Short Form (BOTMP-SF) was administered to evaluate gross and fine motor proficiency in both groups. The 6-minute walk test (6MWT) was performed to evaluate functional walking capacity and North Star Ambulatory Assessment (NSAA) was used to determine ambulatory status of boys with DMD. RESULTS: The gross motor proficiency score was significantly lower in boys with DMD (p = 0.001). No difference was found between the groups in terms of fine motor proficiency (p = 0.962). The gross motor function of BOTMP-SF was significantly related to 6MWT distance (r = 0.696, p = 0.001) and NSAA (r = 0.738, p = 0.001). No relationship was found between BOTMP-SF fine motor proficiency and 6MWT distance (r = 0.210, p = 0.361), and NSAA (r = -0.020, p = 0.928). There were significant correlations between running speed and agility with 6MWT distance (r = 0.585, p = 0.005) and NSAA (r = 0.650, p = 0.056). CONCLUSIONS: Boys with DMD were more affected in aspects of gross motor proficiency than healthy peers, while fine motor proficiency were found same. The gross motor proficiency was found more related to the level of ambulation.

Reliability and validity of the turkish translation of pedsqlTM multidimensional Fatigue scale in Duchenne Muscular Dystrophy.

OBJECTIVE: To perform the Turkish translation, reliability, and validity study of the PedsQLTM-3.0 Multidimensional Fatigue Scale (PedsQL-MFS) in patients with Duchenne Muscular Dystrophy (DMD). METHODS: This prospective, cross-sectional, observational study was held in Hacettepe University, Faculty of Physical Therapy and Rehabilitation between January 2016-August 2018. Turkish translation of the PedsQL-MFS was conducted based on the steps addressed in the translation manual of the original research. The psychometric features of the Turkish version of PedsQL-MFS including feasibility, internal consistency, and test-retest reliability, construct, and criterion-related validity as well as parent/child agreement were investigated on a total of 71 children and their parents. RESULTS: The mean age of boys with DMD included in the study was 102.94+/-23.23 months with a mean 17.15+/-2.98 BMI. Internal consistencies of Child Self Report General Fatigue, Sleep/rest Fatigue, and Cognitive Fatigue items were 0.74, 0.65, and 0.83 while, 0.89, 0.84, and 0.91 in Parent Proxy Report. The ICC values of Child Self Report and Parent Proxy Report were 0.87 and 0.91, respectively. Parent Proxy Report succeded more acceptable fit indices than Child Self Report. A statistically significant correlation was found between PedsQL-MFS and PedsQL-Neuromuscular Module (p<0.05). Moderate agreement was detected between parent and child. CONCLUSION: The Turkish version of PedsQL-MFS was determined to be a reliable and valid tool to evaluate fatigue in 5-12 years old, ambulant children with DMD.

The association of hand grip strength with functional measures in non-ambulatory children with Duchenne muscular dystrophy.

INTRODUCTION: Duchenne muscular dystrophy (DMD) is a disease characterized by progressive loss of muscle fiber, gradually from proximal to distal. Although a few studies have investigated hand grip strength in non-ambulatory DMD patients, a lack of literature was found determining its relationship with functional capacity. OBJECTIVE: The aim of this study was to determine the associations between hand grip strength and functional measures in non-ambulatory children with DMD. METHODS: Hand grip strength was evaluated using a dynamometer in children with DMD. The children with DMD were evaluated with the Turkish version of the Egen Klassifikation Scale Version 2 (EK2) for global functional capacity, the Performance of Upper Limb (PUL) for upper limb functional performance and the ABILHAND-Kids for hand ability. RESULTS: The mean age of 38 DMD children was 12.02 ± 1.99 years. Dominant hand grip strength of the children with DMD was higher than the non-dominant hand (p < 0.05). The EK2 was 13.02 ± 5.50, PUL was 49.86 ± 14.34 and ABILHAND-Kids was 26.81 ± 7.59. Hand grip strength was found to be correlated with the EK2 (p < 0.05). CONCLUSIONS: It is known that measuring functional ability and strength in very weak children with DMD has been difficult and complex for therapists/clinicians in the clinical environment. Although there is a moderate correlation, hand grip strength may be used in clinical practice as a practical assessment tool to have an immediate insight into the global functional capacity in non-ambulatory DMD children.

The association of hand grip strength with functional measures in non-ambulatory children with Duchenne muscular dystrophy / Associação da força de preensão manual com medidas funcionais em crianças com distrofia muscular de Duchenne, que não deambulam

ABSTRACT Duchenne muscular dystrophy (DMD) is a disease characterized by progressive loss of muscle fiber, gradually from proximal to distal. Although a few studies have investigated hand grip strength in non-ambulatory DMD patients, a lack of literature was found determining its relationship with functional capacity. Objective: The aim of this study was to determine the associations between hand grip strength and functional measures in non-ambulatory children with DMD. Methods: Hand grip strength was evaluated using a dynamometer in children with DMD. The children with DMD were evaluated with the Turkish version of the Egen Klassifikation Scale Version 2 (EK2) for global functional capacity, the Performance of Upper Limb (PUL) for upper limb functional performance and the ABILHAND-Kids for hand ability. Results: The mean age of 38 DMD children was 12.02 ± 1.99 years. Dominant hand grip strength of the children with DMD was higher than the non-dominant hand (p < 0.05). The EK2 was 13.02 ± 5.50, PUL was 49.86 ± 14.34 and ABILHAND-Kids was 26.81 ± 7.59. Hand grip strength was found to be correlated with the EK2 (p < 0.05). Conclusions: It is known that measuring functional ability and strength in very weak children with DMD has been difficult and complex for therapists/clinicians in the clinical environment. Although there is a moderate correlation, hand grip strength may be used in clinical practice as a practical assessment tool to have an immediate insight into the global functional capacity in non-ambulatory DMD children.

RESUMO A distrofia muscular de Duchenne (DMD) é uma doença caracterizada por perda progressiva da fibra muscular, gradualmente de proximal a distal. Embora poucos estudos tenham investigado a força de preensão manual em pacientes com DMD não ambulatoriais, foi observada uma falta de literatura para determinar suas relações com a capacidade funcional. Objetivo: O objetivo deste estudo foi determinar as associações entre força de preensão manual e medidas funcionais em crianças não ambulatoriais com DMD. Métodos: A força de preensão manual foi avaliada com dinamômetro em crianças com DMD. As crianças com DMD foram avaliadas com a versão turca da Egen Klassifikation Scale Versão 2 (EK2) para capacidade funcional global, desempenho do membro superior (PUL) para desempenho funcional do membro superior e ABILHAND-Kids para a habilidade manual. Resultados: A idade média de trinta e oito crianças com DMD foi de 12,02 ± 1,99. A força de preensão manual dominante das crianças com DMD foi maior que a da mão não dominante (p < 0,05). A EK2 foi calculada em 13,02 ± 5,50, PUL em 49,86 ± 14,34 e ABILHAND-Kids em 26,81 ± 7,59. A força de preensão manual foi correlacionada com a EK2 (p < 0,05). Conclusões: Sabe-se que medir a capacidade funcional e força em crianças muito fracas com DMD tem sido difícil e complexo para terapeutas / clínicos em ambiente clínico. Embora exista uma correlação moderada, a força de preensão manual pode ser usada na prática clínica como uma ferramenta de avaliação prática para obter imediatamente uma percepção da capacidade funcional global em crianças com DMD não ambulatoriais.

The effect of two different aerobic training modalities in a child with spinal muscular atrophy type II: a case report.

This study examined the effect of two different aerobic training modalities in a boy with spinal muscular atrophy type II. Motor functions were measured with Hammersmith Functional Motor Scale (HFMS) and Gross Motor Function Measure (GMFM). Spirometry was utilized for assessing pulmonary functions and PedsQL 3.0 Neuromuscular module was utilized for quality of life of child. Ergometer training was applied 3 times per week for the duration of 12 weeks. After 6 weeks of wash-out period, aquatherapy was applied for twice a week for the duration of 12 weeks. HFMS and GMFM scores, and pulmonary functions of the child and quality of life scores of his parents were improved during both modalities. These improvements were largely maintained during 1-year follow-up. This study showed that both modalities had similar effects on our case's pulmonary, motor functions and quality life of himself and parents. It will be a guide for researchers working in the area of children with neuromuscular disorders regarding plan and diversification of therapy program.

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study.

Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise. The physical functions were evaluated together with the SMN2 copy numbers, SMN protein levels, insulin-like growth factor 1(IGF1) and binding protein 3 (IGFBP3) levels. The active cycling distance and duration of patients significantly improved. Significant changes could not have detected either SMN or IGF1 and IGFBP3 levels in response to exercise. The findings demonstrated that the patients tolerated the exercise protocol and gained a benefit from arm cycling but benefits could not be associated with SMN2 copy number, SMN protein level, IGF1, or IGFBP3 levels.

Effects of functional level on balance in children with Duchenne Muscular Dystrophy.

INTRODUCTION: This study was planned to compare the static and dynamic balance in children with Duchenne Muscular Dystrophy (DMD) at different functional levels with each other and with healthy peers. MATERIAL AND METHODS: Sixty nine children between the ages of 6 and 11 were included in this study where 52 of them were diagnosed with DMD in Level I (18 patients), Level II (17 patients), and Level III (17 patients) according to Brooke Functional Classification Scale and 17 of them healthy peers were included. In order to assess static and dynamic balance pediatric functional reach test (PFRT) and timed up and go test (TUGT) were used. RESULTS: When compared in terms of the TUGT, differences were found between all groups, i.e. Level 1 and 2, Level 2 and 3, Level 1 and 3, Healthy peers and Level 1, Healthy peers and Level 2, and Healthy peers and Level 3 (p < 0.0083). When compared in terms of the PFRT in the standing positions, there was difference between level 3 and healthy peers (p < 0.0083), but not between the other groups. CONCLUSIONS: We found poor functional level in DMD to affect the dynamic and static balance parameters in this study. The dynamic balance of a child with DMD at Level 3 is decreased to a third of a healthy peer.