Duchenne Musküler Distrofi’li Çocukların Nöropsikolojik Profillerinin Belirlenmesi ve Motor Fonksiyonlar Üzerine Etkilerinin Araştırılması

Abstract

Aldırmaz, E. Determination of Neuropsychological Profiles of Children with Duchenne Muscular Dystrophy and Investigation of Its Effects on Motor Function, Hacettepe University Graduate School of Health Sciences, Program of Neurology Physiotherapy-Doctor of Philosophy Thesis, Ankara, 2024. The study aimed to determinate the neuropsychological profiles of children with Duchenne muscular dystrophy (DMD) by comparing them with typically developed peers and examine them based on the gene mutation site, also investigating the correlation between their neuropsychological profiles and motor functions. The study included 68 children with DMD and 33 typically developed boys aged between 7-16 years old. The cognitive parameters of the neuropsychological profiles of all children were evaluated by the Modified Mini Mental State Test, Controlled Oral Word Fluency and Central Nervous System-Vital Signs (CNS-VS) tests; neurodevelopmental parameters were evaluated with Conners’ Parent Rating Scale, Child Behaviour Checklist, and Strengths and Difficulties Questionnaire. Children with DMD were classified as “proximal mutation group” (exon 1-44) and “distal mutation group” (exon 45-79) based on the genetic test result. Motor functions of DMD group were evaluated with Brooke Lower Extremity Functional Classification, Motor Function Measurement-32, Timed Performance Tests and Four-Square Step Test. Significant differences were found in subtests of neuropsychological assessment between children with DMD and typically developed peers (p≤0.05). By mutation site, no difference was found between the distal and proximal groups in terms of neurodevelopmental aspects (p>0.05). However cognitively, there was a difference in CNS-VS total score, reaction time, cognitive flexibility, and executive functions (p≤0.05). Weak to moderate relationships were found between subtests of neuropsychological assessment and motor functions (p≤0.05). Our study demonstrates that since the neuropsychological performance of children with DMD are worse than typically developed peers and have an impact on motor functions, comprehensive evaluation can be an important factor in more effective planning of rehabilitation programs to maintain motor functions.