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Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle degeneration and frequent developmental, cognitive and behavioral impairments, occurring in one in 5000 live births of boys. DMD is caused by a deficiency of the protein dystrophin, which maintains the structure and functionality of muscle cells. The absence of dystrophin leads to the weakening and eventual death of muscle cells, resulting in reduced muscle strength and impaired motor function. In early childhood, children with DMD may experience delays in basic motor skills such as walking and standing. Later in life, the disease leads to more severe motor dysfunctions, including loss of muscle strength, problems with balance and coordination, and an increased risk of falls.
DMD can also negatively affect cognitive function. Dystrophin is found not only in muscles but also in the brain, and its deficiency in the brain can lead to cognitive problems such as learning disabilities, attention deficits and impaired executive function. These cognitive impairments can affect the academic performance of children with DMD and their functional abilities in everyday life.
In this project, the potential effects of a dual task program designed for children with DMD on physical and cognitive functioning will be examined. Dual task training aims to increase children's capacity to perform two different tasks simultaneously, which may improve the integration of cognitive and motor functions. For example, activities such as counting while walking or answering a question while carrying an object in the hand require children to use both motor and cognitive skills simultaneously. Such exercises can increase coordination between cognitive and motor functions and improve the independence of children with DMD in activities of daily living and their overall quality of life.
The main goals of the program are to produce positive effects on motor skills and cognitive functions, improve balance and coordination, and enable children to move more independently in activities of daily living. Furthermore, this study highlights the value of a multidisciplinary approach, providing important insights into how rehabilitation approaches can be developed for individuals with a special condition such as DMD. Collaboration between physiotherapists and occupational therapists plays a critical role in providing comprehensive care for these children.
The methodology of this study included boys with DMD who were admitted to Lokman Hekim University Muscular and Nerve Diseases Application Center. The children will be randomly assigned to the intervention and control groups, and the children in the intervention group will be enrolled in a dual task performance program for two days a week, one session a day, 45 minutes each session, for eight weeks, with at least two days in between. The effectiveness of the program will be measured using various motor and cognitive assessment tools.
The hypotheses of this study are that dual task training will positively affect motor and cognitive and physical functions in children with DMD, improve balance and coordination, and increase the level of independence of these children in activities of daily living. In conclusion, this project aims to contribute to the development of innovative approaches in the treatment of children with DMD. This approach can improve the overall quality of life of children, as well as support their social participation and educational achievement.
Full description
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle degeneration, as well as frequent developmental, cognitive, and behavioral impairments, with a prevalence of one in 5,000 live male births. It is caused by mutations in the dystrophin gene, leading to the absence or severe deficiency of dystrophin, a cytoskeletal protein essential for the strength, stability, and functionality of myofibrils. Although boys with DMD appear normal at birth, difficulties in developmental milestones such as independent walking and standing become apparent during early childhood. Around the age of four, proximal muscle weakness, particularly in the hips, becomes evident due to the progressive damage to skeletal muscles resulting from dystrophin deficiency, often manifesting as Gower's sign. As the disease advances, postural and balance impairments, reduced endurance, and deficiencies in functional skills emerge. The progressive decline in muscle strength and endurance further diminishes physical activity capacity while increasing the energy expenditure required for activities, resulting in a higher frequency of falls. Despite improvements in the survival rates of individuals with DMD, the progression of the disease is inevitable and typically leads to the loss of ambulation and the need for a wheelchair by ages 11 to 12, accompanied by significant physical dependence.
DMD affects not only neuromuscular but also cognitive functions, a phenomenon first observationally described by Duchenne de Boulogne in 1868 and subsequently corroborated by numerous studies. High levels of dystrophin are found in nerve cells of the cerebral cortex, cerebellum, and hippocampus, regions critical for learning and memory functions. Mutations impacting distal regions, such as Dp140 and Dp71, are associated with lower IQ levels, while proximal mutations contribute to cognitive challenges. The anatomical areas affected by these mutations are connected to the frontal lobe, which is responsible for executive functions such as memory, future planning, decision-making, reasoning, and sustained attention. Magnetic resonance imaging studies have revealed that the lack of dystrophin impacts not only muscles but also the brain, with cognitive impairments observed in approximately one-third of boys with DMD. These impairments are non-progressive and include a mean IQ approximately one standard deviation below the norm. Verbal intelligence quotient scores are often more affected than performance scores. Common cognitive features in DMD include deficits in attention components, short-term verbal memory (working memory), executive functions, expressive language, reading skills, and delays in language acquisition. Nearly half of individuals with DMD experience learning difficulties, and conditions such as borderline intellectual functioning, autism spectrum disorders, attention deficit hyperactivity disorder (ADHD), epilepsy, and anxiety occur more frequently compared to the general pediatric population.
Dual-tasking refers to the simultaneous execution of two tasks that can also be performed independently, each serving a distinct purpose. Examples include walking while talking, carrying a bag while walking, or thinking about items on a shopping list while navigating a store. The capacity to perform such dual tasks, known as dual-task performance, is integral to participation in daily life. Dividing attention between two concurrent tasks often leads to a decrease in performance in one or both tasks compared to performing them individually, a phenomenon referred to as dual-task interference. Factors such as task difficulty and the allocation of attention disproportionately to one task influence dual-task interference. Dual-task performance can be categorized into motor-motor, cognitive-cognitive, and cognitive-motor tasks.
Although dual-tasking has been extensively studied in adults, research on pediatric populations remains limited. Studies involving children often assess parameters such as walking speed, cadence, stride length, double-support time, and step width during tasks like walking while counting. Compared to adults, children experience greater dual-task interference, attributed to the ongoing development of the central nervous system, which governs motor and cognitive processes. In modern daily life, children increasingly engage in dual-tasking, combining activities such as eating, doing homework, or performing household chores with watching television, playing video games, or texting. Studies investigating dual-task performance in children with DMD have reported that impairments in functional status and balance control adversely affect their dual-task capabilities. Cognitive challenges such as attention, short-term memory, and executive function deficiencies exacerbate performance issues in one or both tasks during dual-tasking. Additionally, cognitive-motor dual tasks have a significant impact on functional mobility scores in children with DMD compared to their typically developing peers. Incorporating dual-task evaluations into rehabilitation processes is crucial for guiding management strategies and improving outcomes.
Research exploring the effects of dual-task programs on cognitive, motor, and physical functions in children demonstrates promising results for enhancing various developmental domains. Studies in children with spastic diplegia, intellectual disabilities, and cerebral palsy, as well as those recovering from traumatic brain injuries, highlight improvements in balance, gross motor functions, and functional mobility following dual-task training programs. These findings underscore the potential therapeutic value of dual-task programs for fostering development and functional outcomes in children with various conditions. However, no studies to date have specifically examined the cognitive and physical effects of dual-task programs in children with DMD. Therefore, this project aims to investigate the impact of a dual-task program on the cognitive and physical functions, as well as the independence in daily living activities, of children with DMD.
Aim of the Project The primary aim of this project is to determine the potential benefits of a dual-task program on the cognitive and physical functions of children diagnosed with Duchenne Muscular Dystrophy (DMD) and to explore how such training can be integrated into rehabilitation programs. Additionally, the project seeks to investigate how this approach affects the performance, independence, and quality of life of children in daily living activities.
Objectives of the Project Improvement of Motor and Cognitive Functions: It is anticipated that dual-task training will have positive effects on the motor skills and cognitive functions of children. Specifically, dual-task training may support the more effective use of motor skills by enhancing cognitive functions such as attention and memory.
Enhancement of Balance and Coordination: Dual-task training has the potential to improve children's balance and coordination, resulting in reduced fall risk and better overall physical performance during daily living activities.
Increase in Independence Levels: Following training, improvements in the ability of children to move more independently in daily life activities are expected, contributing to an enhanced quality of life.
Significance of the Project Understanding the impact of such a program on individuals with a specific condition like DMD is critical for optimizing rehabilitation approaches. The findings may lead to the development of more effective treatment plans tailored to the progression of the disease and the specific needs of the individual. With advancements in technology and rehabilitation practices, the expected increase in life expectancy of individuals with DMD, alongside a rise in situations requiring cognitive function, underscores the growing importance of cognitive rehabilitation. This approach is also relevant in addressing future challenges in employment and career development.
Dual-task training is particularly significant for physiotherapists and occupational therapists. Through these programs, individuals can develop the ability to perform two tasks simultaneously. Physiotherapists can utilize dual-task programs to reduce fall risks and enhance multitasking abilities, particularly in neurological and geriatric patients during walking, balance, and neurological rehabilitation. Occupational therapists, on the other hand, help individuals perform daily living activities more efficiently by strengthening cognitive functions and improving adaptation skills. In both professions, the shared goal of dual-task programs is to enhance patients' independence and quality of life, reduce fall risks, and improve both cognitive and motor functions. This program equips patients to better manage the challenges encountered in daily life. Consequently, this study is valuable for occupational therapists and physiotherapists as it emphasizes the importance of a multidisciplinary approach, promotes innovative methods in professional practice, and has the potential to advance rehabilitation strategies for individuals with specific conditions like DMD.
Contributions to Current Rehabilitation Practices The rehabilitation of children with DMD typically involves approaches such as physiotherapy, muscle strengthening, respiratory exercises, and stretching, which are often single-task focused. However, these approaches do not sufficiently address the dual-task scenarios frequently encountered in daily life.
Dual-task programs aim to enhance the ability to perform combined cognitive-motor tasks often required in daily living. This approach seeks to improve children's independence, balance, motor skills, and cognitive functions in everyday activities. Moreover, due to the progressive nature of DMD, children may avoid dual-task scenarios over time, potentially leading to increased inactivity. By addressing this, dual-task training can help overcome kinesiophobia and reduce fear of movement.
The findings of this project can be integrated into clinical practice, recommending the inclusion of dual-task programs in rehabilitation protocols. This integration has the potential to improve the overall quality of life of children with DMD and support their long-term independence.
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