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Cognitive function, behaviour and quality of life in children with myotonic dystrophy type 1 in South - Eastern
Petra Aden1, Anne-Britt Skarbø1, Sean Wallace2
1Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.
Insights
Children with myotonic dystrophy type 1 (DM1) often experience intellectual disability and autistic behaviors. Early diagnosis and focused school and social support are crucial for their development.
Area of Science:
- Pediatric Neurology
- Genetics
- Developmental Disorders
Background:
- Myotonic dystrophy type 1 (DM1) in children can present with predominant cognitive and behavioral issues.
- Delayed diagnosis in pediatric DM1 hinders timely and optimal therapeutic interventions.
Purpose of the Study:
- To assess the prevalence of DM1 in children within a specific health region.
- To investigate cognitive function, behavioral patterns, quality of life, and neurological status in pediatric DM1 patients.
Main Methods:
- Cross-sectional study involving patients diagnosed with DM1.
- Recruitment through local habilitation teams.
- Data collection via neuropsychological testing, physical examinations, medical records, and quality of life questionnaires.
Main Results:
- Identified 27 subjects under 18 with DM1, a frequency of 4.3/100,000.
- Ten participants had normal cognitive function; three diagnosed with autism spectrum disorder, three with autistic traits.
- Most participants exhibited mild neurological deficits; two congenital cases required shunts for hydrocephalus.
Conclusions:
- Intellectual disability and autistic behaviors are common in pediatric DM1.
- Motor deficits are typically mild.
- Emphasizes the need for targeted school and social communication support for children with DM1.
Background:
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.
Objective:
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.
Methods:
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.
Results:
27 subjects <18 years diagnosed with DM1 were identified, giving a frequency of DM1 of 4.3/100 000 in this age group. Twenty consented to participate. Five had congenital DM1. Most of the participants had only mild neurological deficits. Two with congenital type had hydrocephalus requiring a shunt. Ten, whereof none with congenital DM1, had a cognitive function within normal range. Three were diagnosed with an autism spectrum disorder, and additional three were reported with autistic traits. Many parents reported social and school problems for their child.
Conclusions:
Intellectual disability and varying degrees of autistic behaviour were quite common. Motor deficits were most often mild. A strong focus regarding support at school and in social communication is needed for children growing up with DM1.
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