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Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association
Esra Aldırmaz1, Numan Bulut1, Öznur Yılmaz1
1Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Altındağ, Ankara, Turkey.
Insights
Children with Duchenne muscular dystrophy (DMD) show significant cognitive and emotional-behavioral differences compared to peers. Early, comprehensive evaluations are crucial for effective rehabilitation programs in Turkish children with DMD.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) impacts multiple systems, necessitating a comprehensive understanding of its effects beyond motor function.
- Turkish children with DMD present unique challenges that require specific investigation into cognitive and emotional-behavioral outcomes.
- Clinical Trial Registration: NCT05661071.
Purpose of the Study:
- To compare cognitive and emotional-behavioral outcomes in Turkish children with DMD versus typically developing peers.
- To investigate the relationship between cognitive/emotional-behavioral status and motor function in DMD.
- To analyze how mutation site (proximal vs. distal) influences cognitive and emotional-behavioral outcomes in DMD.
Main Methods:
- A cohort of 68 children with DMD (aged 7-16) and 33 typically developing controls were assessed.
- Cognitive function, emotional-behavioral status, and motor functions were evaluated in detail.
- DMD patients were categorized into proximal and distal mutation groups for comparative analysis.
Main Results:
- Children with DMD exhibited significant differences in cognitive and emotional-behavioral assessments compared to controls.
- Weak correlations were observed between cognitive/emotional-behavioral parameters and specific motor functions.
- Children with distal mutations performed worse on certain cognitive subtests than those with proximal mutations.
Conclusions:
- Comprehensive cognitive and emotional-behavioral assessments are vital for optimizing rehabilitation in children with DMD.
- Cognitive abilities are crucial for maintaining motor function, highlighting the need for targeted interventions.
- Findings underscore the importance of considering mutation site in the management of DMD-related cognitive and emotional-behavioral challenges.
Purpose:
The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations.
Method:
Children aged 7-16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as "proximal" and "distal" site mutation groups to compare the cognitive and emotional-behavioural outcomes.
Results:
The children with DMD and typically developing children were similar in terms of age and body mass index (p > 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p < 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p < 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p < 0.05).
Conclusions:
It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas.
Clinical Trial Registration Number:
NCT05661071.
