Table 4 Summary of the findings of publications on non-medical impacts of DMD

Baiardini, Minetti et al. [19]

Using the Children's Health Questionnaire, children with DMD were significantly limited in performing physical activities and demonstrated difficulties with school and other daily activities. The family dynamic appeared to remain intact, but some parents and caregivers reported problems with social aspects of their life.

QOL

Children Health Questionnaire-Parent Form 50, Family Strain Questionnaire

21 mothers, 6 fathers or DMD patients

Italy

Bray, Bundy et al. [22]

Parents of boys with DMD reported significantly poorer health and physical functioning than healthy controls. Parents reported that transitioning to a wheelchair was a particularly difficult time.

QOL

Child Health Questionnaire (CHQ-PF50)

34 boys with DMD, 17 parents at follow up

Australia

Bray, Bundy et al. [23]

Boys with DMB reported significantly lower health-related quality of life compared to the general population, with a moderate to poor correlation with reports from their parents, with parents generally underestimating quality of life of their sons.

QOL

Pediatric Quality of Life Inventory (PedsQLI)

35 parent-son dyads of boys with DMD

Australia

Uzark, King et al. [52]

QOL scores for boys with DMD were significantly lower than those for healthy children for physical and psychosocial QOL. Psychosocial QOL scores were highly impaired particularly in older patients and not significantly associated with use of mobility aids.

QOL

PedsQL 4.0 Generic Core and DMD Module Scales

203 families of boys with DMD

USA

Kohler, Clarenbach et al. [41]

Patients with DMD reported a high level of perceived quality of life. Despite severe limitations in physical functioning, patients reported less role limitations, physical and mental problems, and coping abilities.

QOL

Medical Outcome Questionnaire Short Form 36 (SF-36)

35 male patients with DMD

Switzerland

Manzur, Kinali et al. [42]

There have been improvements in general care and treatment modalities for patients with DMD, with survival into adulthood now a possibility. Multidisciplinary and holistic treatment approaches are also recommended. Curative therapeutic strategies such as cell and gene therapy are currently experimental.

QOL

N/A – Literature Review

N/A

UK

Simon, Resende et al. [50]

Comparing different age groups, patients with DMD did not lose QOL, even with disease progression. In spite of the progressive course of the disease, the QOL in patients with DMD does not worsen.

QOL

Life Satisfaction Index for Adolescents (LSI-A)

95 patients with DMD

Brazil

Garralda, Muntoni et al. [32]

Parents with children with KAFOS reported satisfaction with the rehabilitation process, but some expressed a desire to have had more information beforehand. Families of children with more severe disability reported higher levels of mental distress during the process.

Functional limitations

Life Satisfaction Index for Adolescents (LSI-A)

17 parents and 9 children with DMD

UK

Bendixen, Senesac et al. [20]

When compared with unaffected controls, boys with DMD displayed significantly lower participation in both physical and social activities. Boys with DMD also demonstrated significantly lower QOL scores for physical, social, and school-related domains.

Functional limitations

Semi-structured interviews, Functional Disability Inventory (FDI), The Strengths and Difficulties Questionnaires (SDQ), General Health Questionnaire (GHQ-28), Impact of Events Scale (IES)

50 boys with DMD; 25 unaffected aged-matched controls

USA

Hanayama, Liu et al. [33]

For patients with DMD, commonly observed symptoms associated with dysphagia included oral residuals, coughing while eating, choking while eating, and the need to clear the throat. This demonstrated that a significant portion of patients with DMD had swallowing-related symptoms into their teenage years.

Functional limitations

Children’s Assessment of Participation and Enjoyment, Pediatric Quality of Life Inventory TM 4.0

31 males with DMD

Japan

Marini, Lorusso et al. [43]

The DMD group demonstrated reduced abilities in language processing and cognition, specifically visual attention, but not in receptive or expressive lexical abilities. As well, the narrative speech in subjects with DMD was reduced compared to controls, with shorter sentences.

Functional limitations

Survey of swallowing related symptoms (modified version of previously published measure)

21 males with DMD, 40 healthy controls

Italy

van Wijk, Messelink et al. [53]

Lower urinary tract symptoms in DMD patients are underreported and underdiagnosed; however, the vast majority of male DMD patients with symptoms experience them as a problem, often reducing quality of life.

Functional limitations

Assessment of narrative abilities using the “Nest Story”

199 patients with DMD

Netherlands

Read, Kinali et al. [48]

Unaffected siblings demonstrated comparative psychological functioning and wellbeing scores; however, there was a trend towards increased risk for psychological and emotional problems. Siblings also reported a high impact of their affected sibling's illness on their lives.

Psychological impacts

Strengths and Difficulties Questionnaire (SDQ), General Health Questionnaire (GHQ), Hospital Anxiety and Depression Scale (HADS), SF-36, Functional Disability Inventory (FDI), Family Assessment Device (FAD), Family Burden Interview Schedule and Life Events Checklist

46 unaffected siblings of children with DMD

UK

Read, Kinali et al. [49]

Siblings reported feeling left out when the affected sibling required extra attention, yet the majority remained psychologically well adjusted.

Psychological impacts

Semi-structured interviews and questionnaires previously developed and published by the authors.

35 sibling/parent dyads of children with DMD

UK

Kenneson and Bobo [39]

About half of the caregivers experienced a high level of caregiving demand based on the abbreviated four-item ZBI, consistent with previous report using the full ZBI scale.

Psychological impacts

Survey, components from: Johnson & Johnson Stress Profile, Kessler (K6), Behavioral Risk Factor Surveillance System (BRFSS), Zarit Burden Interview (ZBI), Brief Resilient Coping Scale, ENRICHD Social Support Instrument (ESSI)

1238 Woman caregivers for individuals with DBMD

USA

James, Hadley et al. [35]

Guilt in parents of those with disabilities is associated with depression, helplessness, hopelessness, and disruption of effective parenting. Maternal guilt appears common in XL conditions. Understanding reproductive risks had no significant impact on level of worry among all family members implies that, at least for fathers, siblings, and affected adults, worry is related less to empiric risks and understanding of those risks than to the experience of having an affected family member.

Psychological impacts

Questionnaire developed by authors

112 members of 51 families with chronic granulomatous; 96 members of 51 families with DMD

USA

Hendriksen, Poysky et al. [34]

The results demonstrate the PARS-III is a reliable and valid measure for screening psychosocial adjustment for individuals with DMD. As well, older patients demonstrated higher overall psychosocial adjustment.

Psychological impacts

Personal Adjustment and Role Skills Scale (PARs-III), Revised Rutter Scale

287 parents of boys with DMD

Netherlands, USA

Abi Daoud, Dooley et al. [16]

Parents with a son with DMD were more likely to have an episode of major depression and to have consulted a mental health professional during the last year, and to demonstrate lower self- esteem, than parents in a control group.

Psychological impacts

Depression Scale comprised of items from the World Health Organization's Composite International Diagnostic Interview Short Form (CIDI-SF)

42 parents from 26 families 27 males with DMD

Canada

Chen [24]

Parents of children who were diagnosed at an earlier age reported an increase in ability to cope as a family. Child's level of disability and family hardiness was not correlated to level of family function.

Psychological impacts

Family Hardiness Index, Family Assessment Device, Family APGAR, Duke Health Profile

126 parents of children with DMD

Taiwan

Chen, Chen et al. [25]

Parents with a child with DMD were more aggressive about obtaining resources for their child, with higher stress levels for mothers, and families with a lower income. Coping strategies were used more often in mothers, but overall, fewer coping strategies for emotional expression, self-blame, information seeking, and threat minimization were made.

Psychological impacts

Chronic Impact and Coping Instrument (CICI); Subscales of the Felton 1984 Coping Scale

31 parents of children with DMD, 30 control parents

Taiwan

Chen and Clark [27]

Parents' employment and education, as well as perceived child health and family hardiness/support, was correlated with parental health. Promotion of family hardiness can be supported by nursing interventions and caregiving programs.

Psychological impacts

Family APGAR

126 parents of children with DMD

Taiwan, USA

Garralda, McConachie et al. [31]

Most families reported a positive emotional impact from the trial, with minimal negative impact. Families reported having adequate knowledge and information about the study. Some families reported negative impacts and disappointments during the trial when their child's health deteriorated.

Psychological impacts

Parental Stress and Supports Questionnaire (PSSQ), General Health Questionnaire (GHQ-28), Strengths and Difficulties Questionnaire (SDQ)

19 children with DMD and their families

UK

Chen and Clark [26]

There were significant correlations between age at diagnosis and family function, with better outcomes associated with a younger age at diagnosis. As well, the level of the child's disability was not associated with family function. However, parents did report poorer overall health and an increase in anxiety, depression, and pain and disability, compared to the general population.

Psychological impacts

Barthel Index, Chinese version of Duke Health Profile 27, Family APGAR28, The Family Hardiness Index13, McMaster Family Assessment Device (FAD).

8 single fathers, 26 single mothers, 46 couples with children with DMD

USA

Parsons, Clarke et al. [46]

Prenatal screening for DMD was supported by most families, however anxiety levels for the screened group was higher.

Psychological impacts

Structured question developed by authors, FIRST scores, State Scale, General Health Questionnaire (GHQ)

20 families w/ child w/ DMD, 18 transient, 16 control w/ later diagnosis, 43 control w/ no diagnosis

UK

Cyrulnik, Fee et al. [28]

By parental report, children with DMD demonstrated significant delays in adaptive behaviour skills. Children with DMD also performed more poorly on neuropsychological tests.

Psychological impacts

Vineland Adaptive Behavior Scales, Peabody Picture Vocabulary Test

20 children with DMD, 20 controls

USA

Fee, Hinton et al. [29]

Children living with DMD demonstrated strong behavioural resiliency, which was correlated to high social support and social networks.

Psychological impacts

Child Behavior Checklist (CBCL), Parental Stress Index

146 boys with DMD

USA

Firth, Gardnermedwin et al. [30]

Parents reported problems in three main categories: service, practical, and emotional. Parents were also in favour of prenatal screening and early support, as well as an increase in availability of information. Communication within the family about the disease and implications was also reported as a large area of concern.

Illness experiences

Guided interviews developed by the authors

56 affected boys, 53 families of boys with DMD

USA

Pangalila, van den Bos et al. 2012 [44]

Parents reported that there was substantial burden as caregivers to adults with DMD, specifically surrounding received support, tracheotomy, active coping, and anxiety.

Illness experiences

Caregiver Strain Index (CSI), Self Rated Burden Scale, The EuroQoL-5D, Hospital Anxiety and Depression Scale (HADS), Utrecht Coping List (UCL). General Self-Efficacy Scale

80 parents of 57 adults with DMD

Netherlands

Pehler and Craft-Rosenberg 2009 [47]

The adolescents interviewed did not identify themselves through their diagnosis, and did not see their diagnosis as a crisis. Spirituality and longing was explored as a means to build relationships and connect with others.

Illness experiences

Interview using Manen's Phenomenological method

9 adolescent boys with DMD

USA

Beresford and Sloper 2003 [21]

Participants recognized that they themselves may lack communication skills. The degree of rapport between adolescents and their doctors was influenced by age and gender.

Illness experiences

Semi-structured interviews and group discussion meetings.

63 chronically ill adolescents

UK

Steele, Taylor et al. 2008 [51]

Half of the children have attention deficit–hyperactivity disorder ADHD, which has not been reported in the literature. In the area of internalizing disorders, none of these patients met criteria for depression, either on the KSADS or the self-administered CDI.

Other, assessment of mental health

The Schedule for Affective Disorders and Schizophrenia for School-Age Children (KSADS), Revised Children’s Manifest Anxiety Scale (RCMAS), Children’s Depression Inventory (CDI), Piers-Harris Children’s Self- Concept Scale, Wechsler Intelligence Scale for Children: Third Edition (WISC-III), KSADS-Parent Version, Child Behavior Checklist (CBCL), Conners’ Parent Rating Scale

10 boys with DMD and their parents

Canada

Arias, Andrews et al. 2011 [18]

Fewer than 1 in 5 families were familiar with the term "palliative care", and less than a third had legal plans or advanced directives in place.

Other, use of palliative care

Structured questionnaire developed by authors through focus groups and stakeholder discussions

34 parents of children with DMD

USA

Acharya, Ackerman et al. 2005 [17]

Most physicians support diagnostic genetic testing of high-risk children but are less supportive of expanding newborn screening. Willingness to expand newborn screening does not correlate with professional characteristics but rather with personal interest in testing of their own children.

Other, attitudes of staff

Survey developed by authors

600 paediatricians

USA

Parker, Robb et al. 2005 [45]

While adult patients with DMD deal with a progressive physical impairment due to respiratory, orthopaedic, and other medical factors, areas of disability with often overlooked importance were found in areas of social and medical support.

Other

Retrospective review

25 patients with DMD

UK

Kinali, Manzur et al. 2006 [40]

The survey on the attitudes and practices of UK physicians demonstrated that physicians accept and implement NIV to DMD patients. As well most physicians reported that they promoted shared decision making with DMD patients with respect to NIV. There was also a lack in uniformity of opinion concerning long-term respiratory follow-up for DMD.

Other, attitudes of staff

Modified version of a previously published questionnaire

59 physicians

Canada, UK

Vandervelde, Van den Bergh et al. 2009 [54]

The ACTIVLIM questionnaire showed a good sensitivity to change and could be useful in research settings to characterize the disease course of NMD.

Other

ACTIVLIM Questionnaire

132 patients with NMD

Belgium

Jutai, Rigby et al. 2000 [37]

Our research provides good evidence to support the claim that EADLs (Electronic Aids to Daily Living) contribute significantly to the user's perceived functional independence. Moreover, EADLs appear to enhance other important aspects of the user's psychological well-being, such as feelings of self-confidence and perceived control.

Other, use of electronic device

Psychosocial Impact of Assistive Devices Scale (PIADS)

20 users of EADLs and 21 non-users

Canada

Jarvinen, Lehesjoki et al. 2000 [36]

Carrier testing was in most cases correctly understood and the matter openly discussed. Our results do not suggest that testing in childhood had caused serious harm to the young individuals tested. On the other hand, we found no obvious benefits from this early testing.

Other

Questionnaire developed by authors, RAND 36-item Health Survey 1.0

23 female carries of DMD, 23 females in families with haemophilia

Finland

Kemper and Wake 2007 [38]

Evidence for routine newborn screening for DMD was reviewed, without sufficient data to make a strong recommendation. Further research in the areas of cost, risks, and benefits needs to be conducted.

Other, attitudes towards newborn screening

Literature review

Australia, USA