Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Its Effects on Motor Functions

Determination of Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Investigation of Its Effects on Motor Functions

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

Inclusion Criteria:

• Having been diagnosed with DMD by a pediatric neurologist,
• Being between the ages of 7-16,
• Not to have any diagnosed chronic disease,
• Not having lost yet the ability to write and draw as required by neuropsychological assessments,
• Cooperate with the physiotherapist and be able to comply with their instructions.

Exclusion Criteria:

• Inability to cooperate adequately with the physiotherapist who made the evaluations,
• Have had any injury and/or surgery to the lower/upper extremities in the last 6 months, which may prevent the performance of motor function tests.