Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern Norway

Cognitive and behavioural problems may be predominant in the clinical picture of myotonic dystrophy (DM1) in childhood. This can lead to a diagnostic delay and thus prevent optimal therapeutic measures. To obtain an overview of children with DM1 in our health region and study their cognitive and beh...

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Bibliographic Details
Published in:European journal of paediatric neurology 2023-07, Vol.45, p.1-6
Main Authors: Aden, Petra, Skarbø, Anne-Britt, Wallace, Sean, Ørstavik, Kristin, Rasmussen, Magnhild
Format: Article
Language:English
Subjects:
Autism Spectrum Disorder
Behaviour
Child
Children
Cognition
Cross-Sectional Studies
Delayed Diagnosis
Humans
Myotonic Dystrophy - complications
Myotonic Dystrophy - diagnosis
Myotonic dystrophy type 1
Norway - epidemiology
Prevalence
Quality of Life
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Summary:Cognitive and behavioural problems may be predominant in the clinical picture of myotonic dystrophy (DM1) in childhood. This can lead to a diagnostic delay and thus prevent optimal therapeutic measures. To obtain an overview of children with DM1 in our health region and study their cognitive and behavioural function, quality of life and neurological status. Patients diagnosed with DM1 were recruited to this cross-sectional study through local habilitation teams of our health region. Neuropsychological testing and physical examination were performed for the majority. For some patients information was retrieved from medical records and through telephone interviews. A questionnaire was administered regarding quality of life. 27 subjects
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2023.05.004