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Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy
Federica S Ricci1, Martina Vacchetti1, Chiara Brusa1
1Department of Public Health and Pediatric Sciences, Section of Child and Adolescent Neuropsychiatry, University of Turin, Italy.
Insights
This study assessed cognitive and behavioral functions in children with myotonic dystrophy type 1 (DM1), finding intellectual decline over two years. Further research is needed to understand DM1
Area of Science:
- Pediatric Neurology
- Neurodevelopmental Disorders
- Myotonic Dystrophy Type 1 Research
Background:
- Myotonic dystrophy type 1 (DM1) is a multisystem disorder with significant impact on neurological development.
- Understanding the trajectory of cognitive and behavioral functioning in affected children is crucial for early intervention.
Purpose of the Study:
- To assess the feasibility of evaluating cognitive, neuropsychological, and emotional-behavioral functions in children with DM1.
- To prospectively estimate changes in these functions over time in a pediatric DM1 cohort.
Main Methods:
- An observational longitudinal study involving 10 children (aged 1.5-16 years) with DM1, including congenital and childhood forms.
- Standardized assessments of intellectual, neuropsychological, and emotional-behavioral functioning were administered at baseline and repeated after two years for six patients.
Main Results:
- Intellectual disability was prevalent at baseline in both congenital and childhood DM1 groups.
- A significant reduction in developmental/intelligence quotient was observed after two years in re-tested patients.
- Baseline evaluations revealed impairments in visuospatial skills and attention, with no clear two-year trend; emotional-behavioral scores were heterogeneous without discernible trends.
Conclusions:
- Longitudinal assessment of central nervous system (CNS) functions in children with DM1 is essential.
- A comprehensive evaluation protocol should encompass cognitive, neuropsychological, emotional, and behavioral domains.
- Larger longitudinal studies are required to accurately map functional trajectories and guide clinical practice for pediatric DM1.
Aim:
An observational longitudinal study to evaluate the feasibility of assessing cognitive, neuropsychological and emotional-behavioural functioning in children with myotonic dystrophy type 1 (DM1), and to estimate prospectively changes in functioning over time.
Method:
Ten DM1 patients, aged 1.5-16 years (mean 9.1), 5 with congenital DM1, and 5 with childhood DM1, were assessed with standardized measures of intellectual, neuropsychological, and emotional-behavioural functioning. For 6 patients, assessments were repeated 2 years later.
Results:
At baseline, intellectual disability was found both in the congenital and the childhood group. A clear-cut reduction of the mean and individual developmental/intelligence quotient after 2 years was demonstrated in re-tested patients. As regards to the neuropsychological aspects, the baseline evaluation identified impairments in visuospatial skills and attentional functions, with no clear trend observed after two years. In executive functions, no significant profile was identified even though impairments were detected in a few patients. At the emotional-behavioural assessment, scores in clinical range were found, but they remained heterogeneous and no trends could be recognized.
Conclusion:
Several aspects of CNS functions in DM1 children deserve better definition and a longitudinal assessment. A comprehensive protocol should include cognitive, neuropsychological, emotional and behavioural assessment but larger longitudinal studies are needed to better evaluate the trajectories over time and inform practice.
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