Coping in Children and Adolescents with a Genetic Muscle Disorder –Findings from a Population-Based Study

INTRODUCTION

Coping with the demands of childhood and adolescence can be challenging when living with a genetic muscle disorder [1], including the muscular dystrophies, congenital myopathies, and ion channel muscle disorders. Beyond physical difficulties due to severe progressive muscle wasting and weakness, affected children may face increased risks for pain, reduced life expectancy, and medical complications (cardiac, respiratory, and orthopaedic difficulties). Affected children may also experience an increase in the frequency of doctors’ visits [2], that have been described by children as disruptive to their daily commitments (i.e. school) and exhausting [3]. They are at risk of a range of psychosocial issues, including social and communication problems [4], loneliness, and a lack of empathy from others [5]. Children also report impaired health-related quality of life (HRQoL) [1, 7], which is an individual’s perception of the impact of health and illness on the physical, mental and social aspects of their life [8]. Given there are no cures for genetic muscle disorders, treatment focuses on symptom management and helping young people to cope with living with a chronic and often progressive disease [9].

‘Coping’ refers to an individual’s thoughts and behavioural efforts to handle stressors and minimise the negative effects that stressors can cause [10, 11]. These efforts may change over time and across different types of settings as individuals attempt to manage external and/or internal demands that are considered to be exceeding the resources of the person [11]. While there is on-going debate about how to classify different types of coping behaviours [12], one way is to consider coping strategies as either positive (e.g. social support) or negative (e.g. self-criticism). In general terms, positive strategies try to address the problem by managing the stressor, while negative strategies attempt to evade the stressor. It has been suggested that children who try to manage a stressor by using positive coping strategies, such as problem solving, tend to function better than those who use try to evade the stressor negative strategies, such as distraction and withdrawal [13]. However, the effectiveness of coping strategies may also depend on the characteristics of a specific stressor and a child’s ability to use coping strategies in a flexible way to support positive outcomes [14]. Prior evidence also indicates age and sex differences. Older children have been found to use a broader range of coping strategies than younger children [15], for example. There is also evidence to suggest that girls are more likely to use social support [16] and self-blame whereas boys are more likely to use problem-solving skills [17].

Coping strategies used by children and adolescents have been studied within the context of natural [18] and human-made disasters (e.g. fire, traffic accidents) [19], peer victimisation [20], and a range of health conditions, including chronic fatigue syndrome [21], and chronic illnesses [22]. However, few studies have examined coping in relation to a specific stressor associated with living with genetic muscle disorder in childhood. Most studies have focused on coping among parents, mostly of boys with Duchenne muscular dystrophy (DMD) [23–25], siblings [26], or affected adults [5, 27–30], which cannot be extrapolated to children themselves living with a genetic muscle disorder. One exception is Tesei et al’s (2020) study that examined coping strategies used by parents and children and young adults (n = 51) living with muscular dystrophies [31]. In response to experiences of ‘substantial stress’, the types of coping strategies used by children did not differ significantly from the general population with the exception of less frequent use of problem solving strategies. Health care providers for children with DMD are advised to assess children’s emotional adjustment/coping on at least an annual basis [32]. Yet, little is known about the ways that children try to cope with specific stressors associated with living with a genetic muscle disorder and whether or not their efforts are effective when dealing with health-related stressors. Coping strategy use has been linked with child HRQoL in other populations, including juvenile idiopathic arthritis [33], type 1 diabetes mellitus [34], and migraine or tension-type headache [35]. However, there does not appear to have been any previous research examining links between the coping strategy use and HRQoL outcomes in children living with a genetic muscle disorder. Identifying the most effective coping strategies and those linked to better HRQoL outcomes may help to inform/refine the design and targeted delivery of interventions to help children to manage specific stressors associated with a genetic muscle disorder.

As part of a larger study of the prevalence and impacts of genetic muscle disorders, the current study sought to extend knowledge of coping in affected children, within the context of visits to the doctor. Specific aims were to 1) identify the types of coping strategies used by children in response to a specific type of stressor associated with a genetic muscular disorder, including by age and sex groups; 2) determine the efficacy of coping strategies in response to a specific stressor; and 3) examine associations between coping strategy use and child self-reported HRQoL. Although our study is mainly exploratory it was expected, based on prior evidence [13], that those children who reported using more positive coping strategies would be characterised by better HRQoL compared with children using more negative coping strategies. Also, it was expected that older children would use different coping strategies compared to younger children given evidence of developmental progression towards more sophisticated and effective coping responses with age [36].

MATERIALS AND METHODS

RESULTS

Sample characteristics

The prevalence study identified 159 affected children living in New Zealand on the point prevalence date. As shown in Table 2, in the prevalence sample, the mean age was 9.04±3.75 years [range 0–15 years], and the majority of children were male (68.7%, 33/48) [40]. The most common diagnoses were DMD (38.3%, 61/159) and congenital myopathy (23.9%, 38/159). Of the 122 families contacted, 50.0% (61/122) of children completed an impact assessment (Fig. 1). Of those children who completed an impact assessment, 78.6% (48/61) of children had Kidcope data available and were included in the current analysis. The non-enrolled sample aged 6 to 15 years who were excluded in the current analysis (n = 85) were similar (p > 0.05) to those children included (30.1%, 48/159) for those characteristics shown in Table 1, except for sex (77.6%, 66/85 males versus (vs) 58.3%, 28/159, p = .01) and ethnicity (25.9%, 22/85 NZ European vs 62.5%, 30/48, p < 0.001). The majority of children included in the current analysis were male (58.3%, 28/48) and New Zealand European (62.5%, 30/48). DMD was the most common diagnosis (35.4%, 17/48). One quarter of all children in the current study had co-morbid medical conditions (25.0%, 12/48), most commonly attention deficit conditions (n = 2), malignant hypothermia (n = 2), and allergies (n = 2). Other co-morbid medical conditions included, but were not limited to, asthma, facial dysplasia, and anxiety disorder (ns = 1). Across the 3 Kidcope items assessing emotional responses in relation to the stated scenario, more than half of all children reported feeling ‘A little’ to ‘Very much’ nervous/anxious (63.8%, 30/47), sad/unhappy (57.4%, 27/47), and/or cross/angry (53.2%, 25/47).

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Table 2

Sample characteristics

Characteristic	Kidcope assessment (n = 48)
Mean (SD) age (years)	11.00 (2.66)
	[range: 6–15 years]
Male, n (%)	28 (58.3)
Diagnosis
Duchenne muscular dystrophy, n (%)	17 (35.4)
Congenital myopathy, n (%)	12 (25.0)
Becker muscular dystrophy, n (%)	4 (8.3)
Congenital muscular dystrophy, n (%)	4 (8.3)
Other, n (%)	11 (22.9)
Co-morbid medical conditions, n (%)*	12 (25.0)

^*n = 39 due to 9 cases of missing data.

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Fig. 1

Flowchart of child recruitment.

DISCUSSION

We investigated coping strategy use and perceived efficacy in response to a specific stressor (visit to a doctor) and links to HRQoL in a population-based sample of children with a genetic muscle disorder. According to our findings, children with a genetic muscle disorder most frequently used ‘wishful thinking’, ‘cognitive restructuring’, ‘distraction’ and ‘social support’. Least used strategies were ‘self-criticism’, ‘blaming others’ and ‘resignation’. These findings are similar to those reported by Donaldson and colleagues (2000) who used the Kidcope instrument to examine coping among 768 elementary, middle, and high-school students (aged 9–17 years) in response to school, parents/family, siblings, and peer/interpersonal stressors [15]. As found in our study, ‘wishful thinking’ was used most frequently, whereas ‘blaming others’, ‘self-criticism’ and ‘resignation’ were least frequently used. Together, these findings suggest that the coping strategies used by children with genetic muscle disorders are comparable to strategies used by school children of a similar age when encountering everyday stressors. As in our study, Donaldson found that coping strategy use was similar for boys and girls and during childhood (9–11 years) and early adolescence (12–14 years). Donaldson found that older adolescents (15–18 years) used a greater variety of coping strategies compared with younger age groups. Tesei and colleagues examination of coping strategies used by children and young adults living with muscular dystrophies did not differ significantly from the general population with the exception of less frequent use of problem solving strategies [31]. In the current study, problem solving was one of the least frequently used positive coping strategies. This pattern of findings concurs with previous studies suggesting that problem-focused coping may be more common in controllable situations and decrease in less controllable situations [26, 41].

While our hypothesis of different coping strategy use across age groups was not supported, our sample did not include older adolescents (> 15 years). Examination of a sample of older adolescents with genetic muscle disorders may reveal age-related differences similar to those reported by Donaldson and colleagues. Together, these findings suggest that support programmes around coping that are designed for general school-aged children may also be helpful for children with a genetic muscle disorders across different age (6–15 years) and sex groups. However, it is important to acknowledge that the current study was not statistically powered to exclude inter-group differences based on these latter factors. Others have reported sex-based differences in coping strategy use in different populations, including children with chronic illnesses [20, 42]. Replication in larger samples will be required to confirm the similarities in coping strategy use across groups observed in the current study, and in response to other stressors associated with living with a genetic muscle disorder.

In terms of perceived efficacy, those positive coping strategies most used by children (cognitive restructuring, social support) in response to the stressor (visit to the doctor) were also rated the most effective. This finding suggests that the children in this sample had some insight into which positive strategies were most helpful and that these strategies were being implemented in an effective way. However, there appears to be less of a connection between use and perceived efficacy when examining negative coping strategies. ‘Wishful thinking’ was the most frequently used strategy out of the 10 assessed by the Kidcope. Yet this strategy was rated less helpful than other strategies. This finding may reflect some difficulties and/or a lack of knowledge about the use of alternative and more effective coping strategies. Children using ‘wishful thinking’, for example, may benefit from additional support to transition to using other more effective strategies. Overall, perceived efficacy findings from the current sample suggest that children with genetic muscle disorders are able to select and effectively use positive coping strategies but they may benefit from education and support about those coping strategies which may be less helpful.

Our hypothesis that children who used a greater number of positive coping strategies would report better HRQoL was not supported. Rather, findings from the current study suggest that children’s HRQoL actually decreased as the number of positive and, in particular, negative coping strategies being used increased. One possible explanation is that those children using a greater number of different types of coping strategies, whether negative or positive strategies, were doing so in an increased effort to manage their stressors. Times of disease progression may be especially important for supporting children in their efforts to cope. Patients with muscular dystrophy, particularly in DMD, report increased psychological distress when they are aware the progression of the disease [3, 43]. Further, interviews with adults in the advanced stages of DMD revealed heightened anxiety during critical disease-progression milestones, such as first time use of a wheelchair or respirator [3]. Children’s use of a higher number of different types of positive and/or negative coping strategies may be a flag for increased distress.

Importantly, it is not appropriate to assume any cause and effect relationships between children’s coping strategy use and HRQoL based on data from the current study. Children’s use of coping strategies may be used to manage and influence the emotional conseqences of stressful situations [13], such as stressors associated with increased frequency of doctor visits among those living with a genetic muscle disease [2]. However, it is unlikely that there is a direct association between children’s use of coping strategies and their HRQoL. It is more likely that effective coping strategies may influence a child’s emotional response by alleviating distress. In other words, relationships between stressors associated with living with a genetic muscle disease and HRQoL may be mediated by children’s use of coping strategies.

The present study has some limitations. Given study data were collected as part of a prevalence study, the small size of the sample was limited to those cases identified on the point prevalence date. The small sample limited the study design to a certain extent. For example, we were unable to examine children’s coping strategies in relation to specific co-morbidities (e.g. learning difficulties, intellectual and other developmental disabilities, autism, Attention Deficit Hyperactivity Disorder) that can differ, at least to some extent, across genetic muscle disorder diagnoses. A larger sample would better support the examination of additional factors that may impact children’s use and perceived efficacy of specific coping strategies. Sampling bias is also possible, given those families who were most stressed, not coping, and/or in the greatest need of support, may have been less inclined to take part in an impact assessment. Families who feel they are coping well, and are less stressed, may be more likely to have time and energy available to support study participation. We did not examine other factors that can affect coping and outcome such as family and environmental factors, and specific comorbidities that would ideally be examined in a larger study sample. It is also important to acknowledge measurement limitations in the current study. The Kidcope was originally designed to assess children’s coping within the context of general healthcare consultations. In the current study, we assessed coping among children living with a genetic muscle disorder in relation to a visit to the doctor that they weren’t very happy about. However, we did not specifically ask children to think about a doctor visit specifically related to their genetic muscle disorder. Further, rather than using a more in-depth interview approach, we used the Kidcope screening tool to provide an initial insight into children’s coping in response to a specific stressor (doctor visit). It is important to acknowledge that coping strategies may vary across different types of stressors associated with living with a genetic muscle disorder. However, initial use of a brief screening measure examining coping in response to a specific stressor may be more feasible in a clinical setting. Finally, we must state that this was an exploratory study. Despite these limitations, our findings provide an initial insight into the coping of children with a genetic muscle disorder. An added strength is our focus on child self-report that does not appear to have been previously examined across a range of genetic muscle disorders and including children and adolescents.

Our study findings, along with an increasing proportion of individuals with genetic muscle disorders living into adulthood [44, 45], highlights the need for further research to better understand coping in children with a genetic muscle disease. Future research should investigate whether changes in coping occur over the course of the disorder and established stages of the coping process (i.e. shock and denial, anxiety, anger and guilt, depression and psychological homeostasis) [46], and seek to identify what aspects of genetic muscle disorders are most stressful. This could be achieved by self-identification of key illness-related and non-illness-related stressors as used in previous studies [22]. It would also be useful in future studies to examine coping strategies and perceived efficacy across different environments and stressors (i.e. school, siblings, friends, and boy-girlfriend relationships), as well as the potential impact of approved and experimental therapeutic options on children’s perspectives of coping (and HRQoL). Finally, further investigation should focus on the effects of coping skills training for children and any potential secondary benefits for parents and families. Clinically, more in-depth knowledge of coping across different types of stressors could inform the timing and nature of targeted therapeutic strategies that could be offered at specific points in the disorder (i.e. initial awareness of diagnosis, transition to adolescence, greater duration/severity of illness, etc.). We conclude that those children with genetic muscle disorders use a wide range of positive and/or negative coping strategies to cope with stressors associated with a visit to a doctor and may benefit from greater support to improve HRQoL. Findings also support the value of routine screening of coping in children with genetic muscle disorders.