Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
This study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions & compare to typically developed peers.
In this thesis, it is aimed to determine the neuropsychological profiles of children with Duchenne Muscular Dystrophy (DMD) and to investigate its effects on motor functions. The study will be carried out with children between the ages of 7 and 16 who have been diagnosed with DMD as a result of genetic testing and who applied to Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Pediatric Neuromuscular Diseases Unit for physiotherapy and rehabilitation evaluation. In addition, considering the primary purpose of the study, typically developed boys between the ages of 7 and 16 with similar physical characteristics will be included in the study and compared with children with DMD. Typically developed boys included in the study will be evaluated only with neuropsychological tests. Evaluating cognitive function from neuropsychological tests; Modified Mini Mental Test, The Controlled Oral Word Association Test,computer-based The Central Nervous System Vital Signs will be applied. To evaluate neurodevelopmental status from neuropsychological tests; Conners' Parent Rating Scale, Child Behavior Checklist, Strengths and Difficulties Questionnaire (SDQ) will be applied. To evaluate the motor functions of individuals with DMD; Brooke Lower Extremity Functional Classification, Motor Function Measurement, Four Square Step Test, Six Minutes Walk Test, Timed Performance Tests (10 meters Walk/Run Test, Gower's (from a supine to a standing position), Right/Left Leg Standing, Ascent/Descent of 4 Steps) will be used. In the study, in which the effect of the mutation region of dystrophin protein isoforms causing DMD on the neuropsychological profile of children will be investigated by comparing them with typically developed boys and the effect of this on motor function will be examined, the statistical significance level will be considered as p<0.05
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Duchenne Muscular Dystrophy | Children with Duchenne Muscular Dystrophy (DMD) between the ages of 7 and 16 who have been diagnosed with DMD as a result of genetic testing |
| |
| Typically Developed Children | Typically Developed Children with similar physical characteristics between the ages of 7 and 16 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Modified Mini Mental Test: | Other | To assess the cognitive function of children |
|
| Measure | Description | Time Frame |
|---|---|---|
| Modified Mini Mental Test | The Mini Mental Test developed for adults was adapted to the pediatric population by making minor modifications. Test; It evaluates verbal responses including attention, orientation, memory and language skills, ability to obey verbal and written orders, write spontaneous sentences, and copy a complex drawing. The highest score that can be obtained from this test is 35, the lowest score is 0. | only baseline |
| The Controlled Oral Word Association Test | This test requires the individual to name as many words as possible that begin with a given letter, i.e. K, A and S. Sixty seconds are allotted for each letter. Individuals cannot use proper names or numbers and cannot use words with different tenses or endings once the root word has been given | only baseline |
| The Central Nervous System Vital Signs | Central Nervous System Vital Signs is a reimbursable assessment procedure that utilizes computerized neuropsychological tests to evaluate the neurocognitive status of patients and covers a range of mental processes from simple motor performance, attention, memory, to executive functions. | only baseline |
| Conners' Parent Rating Scale-48 (Parent Report) | The Conners' Parent Rating Scale-48 contains 48 items wherein the frequency of each item is rated on a 4-point Likert scale ranging from not at all (0)-3 very much (3). The test has adequate psychometric properties and is widely used for clinical and research purposes with the attention deficit/hyperactivity disorder population | only baseline |
| Child Behavior Checklist 6-18 ages (Parent Report) | The Child Behavior Checklist/6-18 assesses both child adaptive behaviors and problem behaviors. There are 112 items that assess problem behaviors and 20 items that assess adaptive behavior. Response format for problem behaviors is from 0 ("not true") to 2 ("very true"). The problem behavior items load onto two broad-band scales (Internalizing and Externalizing) and eight narrow-band scales (Rule Breaking, Aggressive Behavior, Withdrawn-Depressed, Somatic Complaints, Anxious Depressed, Social Problems, Thought Problems, and Attention Problems). The adaptive behavior items load onto three scales: Activities, Social Competence, and School Competence. A Total Competence and Total Behavior Problems score are also provided. |
| Measure | Description | Time Frame |
|---|---|---|
| Genetic test report | The effect of the mutation region of dystrophin protein isoforms causing DMD on the neuropsychological profile of children will be investigated by comparing them with typically developed boys and the effect of this on motor function will be examined. | only baseline |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Duchenne muscular dystrophy is an X-linked disease which effects boys.
Children with Duchenne Muscular Dystrophy
Not provided
| Name | Affiliation | Role |
|---|---|---|
| İpek Gürbüz, Assc. Prof. | Hacettepe University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Pediatric Neuromuscular Diseases Unit for physiotherapy and rehabilitation | Ankara | 06100 | Turkey (Türkiye) |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39180809 | Derived | Aldirmaz E, Bulut N, Yilmaz O, Alemdaroglu-Gurbuz I. Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function. Eur J Paediatr Neurol. 2024 Sep;52:86-94. doi: 10.1016/j.ejpn.2024.08.004. Epub 2024 Aug 18. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| The Controlled Oral Word Association Test | Other | To assess the cognitive function of children |
|
| The Central Nervous System Vital Signs | Other | To assess the cognitive function of children |
|
| Conners' Parent Rating Scale-48 (Parent Report) | Other | To assess attention-deficit/hyperactivity disorder |
|
| Child Behavior Checklist 6-18 ages (Parent Report) | Other | To assesses both child adaptive behaviors and problem behaviors. |
|
| Strengths and Difficulties Questionnaire (Self-Reported) | Other | It is a brief emotional and behavioural screening questionnaire for children and young people. |
|
| Brooke Lower Extremity Functional Classification | Other | To determine the functional status of the lower extremity |
|
| Motor Function Measurement-32 Items | Other | To assessment of motor function and progression of weakness in neuromuscular disorders |
|
| Four Square Step Test | Other | A test of dynamic balance and coordination that clinically assesses the participant's ability to step over objects forward, sideways, and backwards. |
|
| Six Minutes Walk Test | Other | It evaluates the walking function and physical capacity of children at the submaximal level. |
|
| Timed Performance Test | Other | 10 meters Walk& Run Test, Gower's(from a supine to a standing position), Right& Left Leg Standing, Ascent/Descent of 4 Steps |
|
| only baseline |
| Strengths and Difficulties Questionnaire (Self-Reported) | The Strengths and Difficulties Questionnaire is a brief emotional and behavioural screening questionnaire for children and young people. The tool can capture the perspective of children. The 25 items in the test comprise 5 scales of 5 items each. The scales include: emotional symptoms subscale, conduct problems subscale, hyperactivity/inattention subscale, peer relationships problem subscale, prosocial behaviour subscale. | only baseline |
| Brooke Lower Extremity Functional Classification | It was developed using the classification method based on "Vignos et al." to determine the functional status of the lower extremity. It consists of 10 different levels, ranging from Level 1 (walks independently and climbs stairs) to Level 10 (bound to bed). | only baseline |
| Motor Function Measurement-32 Items | The Motor Function Measure is a scale designed for the assessment of motor function and progression of weakness in neuromuscular disorders. It is applicable to both ambulant and non-ambulant patients with a wide range of severity. The scale exists in two versions, one with 32 items for patients over 6 years of age (MFM-32), the other with 20 items for children aged from 2 to 6 years (MFM-20). Concerning the development of the scale, factor analysis identified three functional dimensions: D1 = standing position and transfers (13 items; 8 items in the short version), D2 = axial and proximal motor function (12 items; 8 in the short version), and D3 = distal motor function (7 items; 4 in the short version). | only baseline |
| Four Square Step Test | It is a valid and reliable test that has been used frequently in children in recent years to evaluate dynamic balance. Sticks, each 90 cm long, are placed on the floor to form 4 squares and the squares are numbered from 1 to 4. For the test to be completed successfully, the child must quickly move from one square to the next without touching the sticks. Performance is determined by measuring the test completion time in seconds. Shorter completion time means better dynamic balance. | only baseline |
| Six Minutes Walk Test | The 6-minutes walk test, which is valid and reliable for DMD patients, will evaluate the walking function and physical capacity of children at the submaximal level. The distance the child walks for 6 minutes in a 25 m corridor will be recorded in meters. A physiotherapist will walk with the children during the test and track the time with a stopwatch. The test is simple and considered an important outcome measure for children with DMD. | only baseline |
| 10 meters Walk& Run Test | A 10-meter distance was marked on an unobstructed, flat surface using tape. To limit the impact of acceleration and deceleration on gait speed, start and finish lines were placed 30 centimeter before and after the 10-meter distance. Participants were instructed to begin with toes on the start line and walk or run as fast as possible, without compromising safety, to the finish line. | only baseline |
| Gower's(from a supine to a standing position) | Children lied down on a mat with straight position and asked them to stand up as fast as possible. Time was started when he moved and stopped when he was upright position. | only baseline |
| Right& Left Leg Standing Test | Children had to maintain a one-legged stance for as long as they could with their eyes open, and allowing them to freely-move their arms. Children were verbally encouraged to maintain the one-legged standing position for as long as possible during test. | only baseline |
| Ascent/Descent of 4 Steps | The children were asked to climb up the 4-step ladder with double-sided handrails as fast as possible. The time was started when his feet lifted from the ground and when both feet touched the ground, the time was stopped and recorded in seconds. After climbing the ladder, they were asked to descend as fast as possible, the time was started when the foot was lifted, and the time was stopped when both feet touched the ground and recorded in seconds. | only baseline |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| ID | Term |
|---|---|
| D009136 | Muscular Dystrophies |
| D020966 | Muscular Disorders, Atrophic |
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Not provided
Not provided
| ID | Term |
|---|---|
| D057566 | Self Report |
| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
Not provided
Not provided