Affiliations: [a] National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Auckland, New Zealand
| [b] Paediatric Neurology, Starship Children’s Health, Auckland, New Zealand
| [c] Neurology Department, Auckland City Hospital, Auckland, New Zealand and the Muscular Dystrophy Association of New Zealand, Auckland, New Zealand
| [d] Departmentof Neurology, Wellington Regional Hospital, University of Otago, New Zealand
| [e] Neurology Department, Auckland City Hospital, Auckland, New Zealand and the Centre for Brain Research, University of Auckland, Auckland, New Zealand
| [f] Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand
Correspondence to: Dr. Kelly M. Jones, National Institute for Stroke and Applied Neurosciences, School of Public Health and Psychosocial Studies, Faculty of Health and Environmental Studies, Auckland University of Technology, Private Bag 92006, Auckland 1142, New Zealand. Tel.: +64 9 921 9166; Fax: +64 9 921 9620; E-mail: [email protected].
Note:  MD-PREV Study Group members listed below.
Abstract: Background:Genetic muscle disorders, including muscular dystrophies, congenital myopathies, and ion channel muscle diseases can be associated with significant disability. Objective:This study aimed to explore child and parent perspectives of the impact of living with a genetic muscle disorder. Methods:Eighty-three children (<16 years) with a clinical or molecular diagnosis were identified as part of a national prevalence study. Parents’ experiences and needs were assessed using a study-specific questionnaire. Additional outcome measures included parent and child self-report versions of the Behavior Assessment System for Children and the Pediatric Quality of Life Inventory. Parents also completed the Hospital Anxiety and Depression Scale and Activlim. Results:Sixty-four percent of families had a combined annual household income below $60,000 NZD ($43,650 USD), being less than the national median income of $73,000 NZD ($53,112 USD). Parents reported needing more support than they were currently receiving (40%), particularly with household chores (23%) and transportation (17%). Few parents (13%) or children (4%) reported significant child behavioral difficulties. Risks of impaired quality of life were high (parent proxy 71%, child report 70%), and associated with co-morbid health conditions (p = 0.008), functional status (p = 0.001), wheelchair use (p = 0.001) and mechanical ventilation (p = 0.01). Conclusions:Findings are relevant to those involved in the care and support of children, and their families, who are impacted by genetic muscle disorders. Targeted guidelines are required to inform the provision of services, alongside promotion of existing community services to improve access to financial support, and assistance with day-to-day functioning. Future research should examine intervention and treatment options aimed at maximising affected children’s quality of life.
Keywords: Neuromuscular diseases, muscular diseases, quality of life, child behavior