Participation and quality of life in children with Duchenne muscular dystrophy using the international classification of functioning, disability, and health

Abstract

BackgroundDuchenne muscular dystrophy (DMD) is characterized by muscle damage and progressive loss of muscle function in male children. DMD is one of the most devastating genetically linked neuromuscular diseases for which there is currently no cure. Most clinical studies for DMD utilize a standard protocol for measurement exploring pathophysiology, muscle strength and timed tasks. However, we propose that examining broader components of health as emphasized by the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) may be of great value to children and their families, and important outcomes for future clinical trials.MethodsFifty boys with DMD and 25 unaffected age-matched boys completed two self-report measures: the Children’s Assessment of Participation and Enjoyment and the Pediatric Quality of Life InventoryTM 4.0. We investigated differences between the two groups with regard to participation in life activities and perceived quality of life (QoL). Additionally, we compared participation in activities and QoL in both cohorts of younger and older boys.ResultsParticipation in physical activities was significantly lower in boys with DMD than unaffected boys. Perceived QoL was markedly diminished in children with DMD relative to unaffected controls, except in the emotional domain. The amount of time boys engage in an activity, as well as participation in social activities, declined for our older boys with DMD but no changes were observed for our older unaffected boys. For both groups, QoL remained constant over time.ConclusionsThe ICF-CY provides a conceptual framework and specific terminology that facilitates investigation of the consequences of impairment in children and youth. Our study is one of the first to explore participation in a cohort of boys with DMD. It was not surprising that activities of choice for boys with DMD were less physical in nature than unaffected boys their age, but the consequences of less social engagement as the boys with DMD age is of great concern. Results from our study underscore the need to further evaluate activities that children elect to participate in, with special emphasis on facilitators and barriers to participation and how participation changes throughout the course of a disease.

Self-Reported Quality of Life of Young Children With Conditions From Early Infancy: A Systematic Review

“…31 In other studies, children with sickle cell disease, spinabifida,Duchenne muscular dystrophy (DMD), bladder exstrophy, lower urinary tract dysfunction, and congenital hearing impairment reported impaired QoL compared with the general population or age-matched control children (Table 2). 29,32,[41][42][43][44] Perceived QoL in boys with DMD measured by using PedsQL was lower for all domains, except for the emotional domain, compared with unaffected age-matched control subjects. 32 However, for boys aged ,10 years, QoL for social, emotional, or school domains was comparable to control subjects.…”

“…29,32,[41][42][43][44] Perceived QoL in boys with DMD measured by using PedsQL was lower for all domains, except for the emotional domain, compared with unaffected age-matched control subjects. 32 However, for boys aged ,10 years, QoL for social, emotional, or school domains was comparable to control subjects. Interestingly, self-reported QoL was not different between younger (,10 years) and older ($10 years) boys with DMD, despite the significant decline in engagement in social activities for older boys.…”

“…Some studies included older children in their sample but separated results for the younger cohort. [27][28][29][30][31][32][33][34] The studies covered a variety of conditions, including congenital heart disease (CHD) (n = 7), cerebral palsy (n = 2), hemophilia (n = 2), and orofacial clefts (n = 2). The majority of studies either used reference data or a control group for comparison; the remaining studies used within-group age comparisons 27,28,31 or compared one congenital condition with a related condition.…”

Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?

“…Others have found no differences between the QOL of children with DMD and healthy children 4,8,9 . However, most authors agree that the QOL does not change as the child grows older and gets more dependent 7,9 , except Davis et al, who associated the reduction of the QOL of children and caregivers to the wheelchair dependence 10 . Opposite, the non-invasive ventilation dependence has not been related to the reduction of QOL in children 4 .…”

“…Some studies have shown that it is reduced among children with DMD 6,7 . Others have found no differences between the QOL of children with DMD and healthy children 4,8,9 .…”