Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review.
Myotonic dystrophy type 1 (DM1), a neuromuscular disorder, is divided into four clinical phenotypes: congenital; childhood; adult-onset, and late-onset. Publications about the childhood phenotype, especially the long-term outcome, are scarce. The aims of this study were to assess and describe participation outcomes in adults with the childhood phenotype.



A retrospective chart methodology. Data were extracted from health records for 63 adults with childhood DM1 (32 males, 31 females; mean age 34y, standard deviation [SD] 11y 6mo; range 18-54y) who had attended the Saguenay Neuromuscular Clinic, Canada.



Thirty-four adults (54%) lived with their parents or in foster homes, and most patients needed services or help to live independently. A significant proportion (22%) were isolated in regard to friendship. Very few adults had children, although 33% lived with a spouse. The majority of patients (86%) relied on social security and only one person was currently working. Financial responsibilities were often an issue and 13 (21%) were under legal guardianship.



This study showed that patients with the childhood phenotype present a guarded prognosis regarding long-term social participation. These participation restrictions could be related to behavioural, cognitive, and social stigma problems in childhood. This study illustrates the absolute necessity to pursue an interdisciplinary follow-up of these patients when they are reaching adulthood.
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.|Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital Jonquière, Saguenay, QC, Canada.
Cynthia
C
Gagnon
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.|Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.|Functional Area Occupational Therapy & Physiotherapy, Allied Health Professionals Function, Karolinska University Hospital, Stockholm, Sweden.
Marie
M
Kierkegaard
Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital Jonquière, Saguenay, QC, Canada.
Catherine
C
Blackburn
Department of Paediatric Neurology, Paediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, QC, Canada.
Nicolas
N
Chrestian
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.|Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital Jonquière, Saguenay, QC, Canada.
Mélissa
M
Lavoie
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.
Marie-Frédéric
MF
Bouchard
Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada.|Neuromuscular Clinic, Centre intégré universitaire de santé et services sociaux du Saguenay-Lac-St-Jean, Hôpital Jonquière, Saguenay, QC, Canada.
Jean
J
Mathieu
D000293:Adolescent; D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000523:psychology*; D010290:Parents / Q000523:psychology; D010641:Phenotype; D012189:Retrospective Studies; D058992:Social Participation / Q000523:psychology*; D055815:Young Adult