Patterns of decline in upper limb function of boys and men with DMD: an international survey

Abstract

With increasing life expectancy, upper extremity (UE) function becomes more and more important in boys with Duchenne muscular dystrophy (DMD). Knowledge of UE function in these children is, however, limited. The aim of this study was to gain insight into the changing patterns of UE function during the course of DMD. A Web-based questionnaire on UE function, covering all domains of the International Classification of Functioning Disability and Health, was distributed worldwide. Primary domains of the questionnaire were: participant characteristics, UE pain and stiffness, UE activities, and social participation. Data were described per disease stage and analyzed using descriptive analysis. A total of 213 boys/men with DMD (1-35 years) were included in this study. UE pain, stiffness, and activity limitations increased with disease stage. UE activity limitations already occurred in the early ambulatory stage. Compared to the healthy population, social participation was restricted in DMD patients and about 70% of the respondents experienced UE limitations when performing social activities. Despite the existence of UE impairments, only 9% of the respondents used supportive aids. Functional capacities and activities of the UE are limited already in the early ambulatory stage of patients with DMD affecting their social participation. Therefore, clinicians should pay attention to UE limitations before DMD patients lose their capacity to walk. Effective and adequate aids as well as attention for pain and stiffness in the therapeutic management could help to reduce UE activity limitations and related restrictions in social participation.

Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review

“…One study was a survey conducted internationally 40 and three each were conducted in Australia [41][42][43] and the United States [44][45][46] . Nine studies recruited through tertiary clinics 43,44,[47][48][49][50][51][52][53] , five studies through multiple sources 40-42, 46, 54 and one study did not report their participant source 45 .…”

“…In the eight studies that recruited participants with a larger age range, data of 12-22 year olds could be separately extracted 40,43,[46][47][48][49]54 . In the remaining 4 studies 41,44,50,52 participants' mean age fell within the specific age range of this review, with the age of outliers ranging from 8 44 to 25 years old 50 .…”

“…Five studies described all participants as wheelchair users 40,45,[47][48][49] and three recruited only boys with DMD of whom the majority were wheelchair users 41,44,46 . Two studies recruited by functional dependence on NIV 43,50 , one included only those with compromised sitting ability having undergone spinal fusion 52 and all three reported extremely low physical scores, hence they were assumed to include only non-ambulant participants.…”

“…Use of outcome measures with unverified validity and reliability for the population with NMD compromised the internal validity of four studies 40,51,52,54 (see Table 2 and Risk of interpretation bias appeared low in four quantitative 41,44,46,53 and two qualitative studies 42,45 who clearly reported the steps taken in their analysis process and which were assessed to be appropriate for their data.…”

“…De novo questions utilised by Janssen et al 40 broadly described the proportion of 24 youth with DMD aged 8 -19 years old participating in school (83%), recreation (89% sport, 92% hobby), and employment (66% working).…”