Table 5 Themes and Trends Identified Under the Physical, Psychological, Social, Well-being and Other Domains for DMD Patients

General physical QoL

Impaired QoL according to decline in ambulatory status [54]

Impaired QoL reported (according to both self-report [44], and parent-proxy report [44, 60]

Self-report higher than parent [8]

Declines with age [19, 22, 61]

Impaired compared to controls/normative data [24, 42, 55, 62]

Varies according to geographical status [28]

Impairment correlates with anxiety [43]

Impairment correlates with wheelchair or ventilator use [7, 19]

Physical functioning QoL improvement with treatment [29]

Fractures occur more frequently in more ambulant stages [63]

Physical activity lower than for age-matched controls [2, 31, 60]

Health Behaviour

Physical activity less strenuous than age-matched controls [31]

Physical activity decline with age by self-report [64]

More on-screen/sedentary behaviour with age [31]

Physical activity improvement with treatment by self-report or parent proxy [29]

Sleep

Sleep quality lower than controls by self-report or parent proxy [17]

Problems initiating and maintaining sleep (DIMS), sleep-related breathing disorders and sleep hyperhidrosis by parent-proxy [65]

Pain

Pain correlates with reduced QoL [22]

Occurrence of pain not reflected in associations of general QoL [43]

Pain complaints largely kept within the family [22]

Physical abilities restrict pain-coping strategies [22]

Activities of Daily Living

Problems with day-to-day practicalities compounds problems in other domains [32]

Daily activities such as transportation to school are passive for majority of patients whereas controls use active transport [31]

General Social QoL

Lower QoL for social domain than unaffected boys [2, 19, 24, 32, 55, 61, 62]

Participation

Adolescents expressed longing for missed activities [44, 54]

Children perceive their ability to keep up with their peers as less difficult than their parents do [67]

Inability to participate in activities with peers further aggravates social problems [24, 44, 54]

Lack of correlation between decrease in participation and general QoL [2]

Low level of participation leads to life devoid of meaningful activities [43]

Social activities and participation not correlated with “social relationships” [37]

Decline of social participation with increasing age [2, 64]

Significantly more time spent on screen time activities that controls [31]

Decrease in participation correlates with time to walk up stairs and decrease in physical activities [64]

Friends

Adolescents expressed longing for missed friends [32, 54]

Children and parents rate their children as having lower QoL regarding “friends” than controls [44, 60]

Parents perceive lower HRQoL for social acceptance than their sons self-report [42]

Accessibility to homes becomes a physical barrier to visiting friends [27]

Carers have crucial role in enabling patients to see family and friends [27]

Relationships

Score low in the domain of social relationships compared to reference population [32, 43]

Few patients had expectations of successful future relationships [32]

School/Work

Most common school problem was missing school to go to doctor or hospital [44]

Parent report more school days missed because of not feeling well than their children [67]

No difference to controls for “school-related” QoL [2]

Parents report practical difficulties with sending their child to school [33]

Hopes for future employment and education attenuated by lack of independence and difficulties accessing work experience [32]

Psychosocial QoL

Psychosocial QoL lower than general paediatric public([7], #1851, [19, 44])

Older patients did not tend to perceive lower psychosocial QoL despite increased physical limitations [44, 55]

Patients receiving corticosteroids report no difference in psychosocial QoL compared with patients not receiving steroids [44]

Mental health QoL varies according to geographical status (better in North Western than Eastern Europe) [28]

Family income associates with better Generic Core Psychosocial score [19]

Happiness

Most patients rated as happy and in good health by caregivers compared to public preference which estimates substantial impairment [39]

Parents rated their children lower for “general mood” and feelings than control parents [42, 60]

Parents rated their children lower for “moods and emotions” than their children’s self-report [42]

Depression

Depressive symptoms were in the subclinical range and did not correlate with physical disability [24]

Anxiety

Correlated with overall QoL and with physical health and psychological functioning [43]

Patients worried about their future and about their family [44]

Coping

Emotional impact of trial participation mediated by baseline psychosocial stressors [34]

Communication with family and friends is an important coping mechanism [44]

Coping mechanisms posited as reason for maintenance of psychosocial QoL in older boys [55]

Communication

Communication difficulties mean patients not always able to provide self-assessments [39, 66]

Parents underestimate their child’s HRQoL compared to self-report [67]

Motor impairments mean dependence on help to complete assessments may introduce reporting bias [19, 24, 44]

Dependence on help to complete assessments may inhibit respondents from admitting extent of feelings [24, 44]

Patients often found it difficult to talk to non-medical people [44]

Patients rely on familiar people to be able to communicate effectively [22, 27, 44]

Well-Being Themes

General Well-Being

Perceived HRQoL underestimated by parents compared to self-perception by self-report [42]

Independence/ Self-Care

Parents help required to complete self-assessment [39]

Patients become increasingly dependent on parent/carer with age [26, 27, 37]

Patients dependent on parents and carers to act on their behalf to relieve pain [22]

When patients are less able to take care of themselves independently, they perceive their physical abilities lower [42]

Parents help required to complete self-assessment [39]

Patients become increasingly dependent on parent/carer with age [26, 27, 37]

Dignity

Many patients consider their QoL as good and feel respected by society [26]

Creative engagement and hobbies important to feelings of identity and autonomy [27]

Attitudes to accessibility are of great importance to patient’s integration in society [19]

Importance of patient’s needs and wishes as an individual to be respected [27]

Energy/Fatigue

Less fatigue correlates with better QoL [19, 41]

Low QoL for fatigue reported by patients [42, 43]

Lower QoL for fatigue reported by patients than by patients [67]

Accessibility/ Wheelchair Use

Use of electric wheelchairs can promote participation in activities [54]

Affordable access to medical devices is central to maintenance of QoL as physical functioning deteriorates [39]

Access to public transport and access to the professional world were barriers to participation [32, 37]

Intermittent wheelchair use associated with greater fatigue than children not using a wheelchair [19]

Wheelchair use correlates with poorer QoL [7, 19]

Lack of wheelchair access to premises can be a barrier to participation and social activities [27]

Healthcare Service Provision

Earlier diagnosis benefits include ability to access specific treatments sooner, preparing for financial and practical issues in the future and informing reproductive planning [23]

Large proportion of carers report adequate professional support [45]

Medical (e.g. splints, shower chairs) and leisure equipment (PlayStation) can exacerbate or influence pain [22]

Choices of equipment, seating, beds and routes of medication should be available to carers [22]

Patients felt nurses were sometimes not adequately trained in ventilator care [25]

Lack of knowledge from primary healthcare providers on the specific complications of DMD [25]

All adult patients (> 20 yrs.) required help around the clock [26]

Main driver of non-healthcare costs to the healthcare system is informal care [56]

Treatment Related/ Therapy Effects

Some medications were difficult for patients to swallow whilst others had side effects [22]

Providing pre-emptive analgesics and adjunctive medication for common side effects alongside should be considered [22]

Potential emotional impact of trial participation on patient and family [34]

Higher incidence of fracture for patients on steroids [63]