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Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
The neuropsychological profile of infantile Duchenne muscular dystrophy
Giovanni Mento1, Vincenza Tarantino, Patrizia S Bisiacchi
1Department of General Psychology , University of Padova, Via Venezia 8, Padua, Italy. giovanni.mento@unipd.it
Insights
Children with Duchenne muscular dystrophy (DMD) show cognitive deficits, particularly in verbal skills, memory, and executive functions. Early identification of these neuropsychological changes is crucial for developmental disorders.
Area of Science:
- Neurology
- Neuropsychology
- Pediatrics
Background:
- Duchenne muscular dystrophy (DMD) is associated with cognitive deficits.
- The full neuropsychological profile in DMD is not well-characterized.
- Motor impairments can confound cognitive assessments in pediatric neuromuscular conditions.
Purpose of the Study:
- To comprehensively characterize the neuropsychological profile of children with DMD.
- To differentiate cognitive deficits specific to DMD from those related to motor impairment.
- To investigate the role of executive function as a potential subclinical marker.
Main Methods:
- Comparison of children with DMD to a control group with juvenile rheumatoid arthritis (JRA), matched for motor impairment but not cognitive dysfunction.
- Extensive neuropsychological evaluation covering intelligence, perception, language, memory, attention, executive function, praxis, and reasoning.
- Statistical analysis to identify significant performance differences between groups.
Main Results:
- Children with DMD exhibited significantly lower performance in verbal IQ, verbal short-term memory, and phonological abilities compared to controls.
- Impairments were also noted in praxis and executive functioning domains in the DMD group.
- These findings highlight specific cognitive domains affected by DMD beyond motor deficits.
Conclusions:
- A broad range of cognitive domains, including verbal abilities, executive functioning, and praxis, are affected in children with DMD.
- Subtle executive function impairments may serve as a subclinical marker for cognitive issues in developmental disorders.
- Comprehensive neuropsychological assessment is essential for managing children with DMD.
Abstract:
It has been shown that children with Duchenne muscular dystrophy (DMD) exhibit specific cognitive deficits. However, the neuropsychological profile has not yet been fully characterized. In order to control for the contribution of motor impairments as a confounding variable that is usually present when assessing children with muscular pathologies, we compared children with DMD to a group of children with an autoimmune pathology that does not entail either brain or cognitive dysfunction but does imply motor impairment: juvenile rheumatoid arthritis (JRA). An extensive neuropsychological evaluation was administered, including intelligence, perception, language, memory and learning, attention, executive function, praxis and reasoning. As the main result, in children with DMD we found significantly lower performances in verbal IQ, verbal short-term memory and phonological abilities, as well as in praxis and executive functioning domains. A wide range of cognitive domains, including verbal abilities, executive functioning, and praxis, must be taken into account when assessing neuropsychological functioning in children with DMD. In particular, subtle executive function impairment could be considered as a subclinical marker of cognitive impairment in developmental disorders.
