Investigation Of Factors Affecting Hand Functions in Nonambulatory Patients With Duchenne Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 23
- 试验地点
- 1
- 主要终点
- Passive joint range of motion
研究概览
简要总结
The aim of this study, determining the factors affecting the hand functions of children with Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and determining the effects on the overall upper extremity performance and quality of life of the determined factors.
详细描述
Duchenne Muscular Dystrophy (DMD) is the most common neuromuscular disease seen in childhood. DMD is an X linked recessive disorder. DMD is characterized by complete or partial (<3%) deficiency of the cell membrane protein dystrophin.
Dystrophin deficiency results in a permanent deterioration of muscle fibers. This leads to a progressive decrease in muscle strength and functional abilities. The precise mechanism of how the defect of dystrophin leads to degeneration of muscle fibers remains uncertain, but cytoskeletal deterioration, sarcolemmal instability and abnormal calcium homeostasis are thought to play a role in this degeneration.
These patients have symptoms such as limb proximals and progressive muscle weakness in the trunk, gait abnormalities, Gower's sign, various degrees of restriction in daily living activities, and frequent falls. The majority of patients have elevated serum creatine kinase or elevated liver transaminases and less frequently language or general developmental retardation.
Walking ability of this children begins to deteriorate between the ages of 3-6. These patients are generally dependent on wheelchair aged 10-12 years. The loss of walking is the milestone in terms of the progression of the disease. The use of electric wheelchairs limits arm functions such as lengthening and lifting during the late phase of the illness (when the ambulance has been lost and the ambulance is being continued with the wheelchair).
Patients with DMD have an average life span of 30 years with spinal surgery and ventilation support. They spend most of their lives dependent on the wheelchair and need functional use of the upper limbs to maintain the best possible level of independence in their daily life activities throughout their lifetimes.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 8 Years 至 16 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Having a Duchenne Muscular Dystrophy diagnosis by a practicing physician,
- •Between the ages of 8-16 years,
- •Having lost ambulation ability,
- •Brooke Upper Extremity Functional Classification (1-5)
- •To have motivation and co-operation with physiotherapist for evaluations to be made
排除标准
- •To maintain the capacity of independent ambulance,
- •Having cooperative disorder or serious mental disorder,
- •Any spinal and / or upper extremity injuries and / or surgery in the last 6 months,
- •Having any systemic disease other than DMD,
- •Not volunteering to participate in the study
结局指标
主要结局
Passive joint range of motion
时间窗: 10 minutes
Passive range of motions were assessed with goniometer and recorded limitations.
Thumb opposition
时间窗: 2 minutes
Thumb opposition was assessed by Kapandji score (1-10). Score Location achieved 1. Radial side of the proximal phalanx of the 2nd phalanx 2. Radial side of the middle phalanx of the 2nd phalanx 3. Tip of the 2nd phalanx 4. Tip of the 3th phalanx 5. Tip of the 4th phalanx 6. Tip of the 5th phalanx 7. Distal interphalangeal joint crease of the 5th phalanx 8. Proximal interphalangeal joint crease of the 5th phalanx 9. Metacarpophalangeal joint crease of the 5th phalanx 10. Distal palmar crease
Performance of the upper extremity
时间窗: 15 minutes
Performance of the Upper Limb (PUL) (0-74) is including three dimension: * Shoulder dimension (0-16) * Elbow dimension (0-34) * Distal dimension (0-24)
Upper extremity muscle strength
时间窗: 20 minutes
Hand held dynamometer
Brooke Upper Extremity Functional Classification (1-6)
时间窗: 2 minutes
Children's functional levels were assessed with Brooke Upper Extremity Functional Classification (BUEFS) and children with a BUEFS score between 1-5 were included in the study. 1. Starting with arms at sides, can abduct arms in a full circle until they touch above head 2. Can raise arms above head only by flexing elbow or using accesory muscles 3. Cannot raise arms above head but can raise a glass of water to mouth (using both hands if necessary) 4. Can raise hands to mouth but cannot raise a glass of water to mouth 5. Cannot raise hand to mouth but can use hands to hold pen or pick up pennies from table 6. Cannot raise hands to mouth and has no useful function of hands
Gross grip strength
时间窗: 2 minutes
Hand dynamometer
Hand function
时间窗: 3 minutes
ABILHAND-Kids (0-36)
Activity limitations
时间窗: 3 minutes
ACTIVLIM (0-36)
Lateral, tripod, two-point pinch strength
时间窗: 3 minutes
Pinchmeter
次要结局
- Quality of life assessment of children (0-100)(5 minutes)
- Quality of life assessment of parents (0-100)(5 minutes)
研究者
Gülcan Altınok
Master Student
Hacettepe University