Cognitive, neuropsychological and emotional-behavioural functioning in a sample of children with myotonic dystrophy type 1

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. Ten DM1 patients, aged 1.5–16 years (mean...

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Bibliographic Details
Published in:European journal of paediatric neurology 2022-07, Vol.39, p.59-64
Main Authors: Ricci, Federica S., Vacchetti, Martina, Brusa, Chiara, D'Alessandro, Rossella, La Rosa, Paola, Martone, Gianluca, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana E.
Format: Article
Language:English
Subjects:
Childhood myotonic dystrophy type 1
Cognitive decline
Comprehensive assessment
Congenital myotonic dystrophy type 1
Emotional-behavioural functioning
Neuropsychological functioning
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Summary: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. 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. 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. 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. •Prospective assessment of cognitive functioning of DM1 children indicates cognitive decline over a 2-year follow-up.•A neuropsychological, emotional and behavioural assessment of paediatric DM1 patients is feasible.•Impairments in visuospatial skills and attentional functions are frequent.•Many CNS symptoms contribute to the burden of myotonic dystrophy in children and families, and deserve better evaluation.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2022.05.008