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Duchenne Muscular Dystrophy—a biopsychosocial approach
Physiotherapy 90 (2004) 145–150
Duchenne Muscular Dystrophy—a biopsychosocial approach Marina Morrow Yorkhill NHS Trust, Dalnair Street, Glasgow G3 8SJ, Scotland, UK
Abstract This paper highlights the key role that paediatric physiotherapists have in the treatment and management of neuromuscular disorders. However, in order to fully appreciate this role, an understanding of the psychosocial implications of progressive neuromuscular disorders, and the impact this has upon the family unit is necessary. Duchenne Muscular Dystrophy is the most common childhood neuromuscular disorder and many texts acknowledge the paradigm that the family is the patient. Management of this group should take into account the impact of the social, emotional and physical manifestation of the condition upon the family unit. This review discusses the literature to date in this field and offers an insight into the complex family dynamics of caring for a young man with Duchenne Muscular Dystrophy. By exploring the psychosocial aspect of this degenerative disorder, the physiotherapist will be better equipped to manage the changing needs of this client group whilst assisting the family to adapt to each new stage of the disease progression. © 2004 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved. Databases: Pubmed; Medline and Psychlit; The British Library Database; The Cochrane Library Keywords: Duchenne Muscular Dystrophy; Feelings; Perception; Lifestyle
Background The biopsychosocial model calls upon healthcare professionals to consider biological, psychological and social factors to enable therapists to deliver appropriate healthcare and establish a good patient partnership [1,2]. Paediatric physiotherapists work closely with families and are aware that the state of family dynamics can influence treatment outcomes and it is therefore important that this model is explored to enable an effective patient partnership to be forged; if the family truly is the patient then in this case, it is difficult to determine with whom the partnership exists—parent, son or both.
Duchenne Muscular Dystrophy The pathology and physiology of Duchenne Muscular Dystrophy is well documented. Tecklin [3] describes this condition as, one of the most prevalent and disabling childhood myopathies (p. 224). It is a genetic disorder, and is transferred from mother to son via a compromised sex-linked X chromosome [4]. It affects 3:10,000 boys per year [5] E-mail address: [email protected] (M. Morrow).
with approximately six new cases diagnosed each year in the West of Scotland. Diagnosis is usually confirmed between the age of 2 and 7 years and boys become progressively weaker requiring the use of a wheelchair by the age of 10 [6]. The condition is characterised by muscle weakness, which inevitably leads to joint contractures, scoliosis, loss of ambulation and upper limb function resulting inexorably in a complete and total dependent existence [7–9]. The cause of death is usually the result of diaphragmatic and respiratory muscle weakness coupled with poor ability to cough [10]. Young men with this condition can now expect to live in to their mid twenties through the advent of non-invasive nocturnal ventilation [11]. Siegel [7] expresses the view that incurable is not synonymous with untreatable. Like many, he advocates the value of the multidisciplinary team approach acknowledging the multi faceted role of the physiotherapist, a view that is entirely appropriate nearly 30 years later.
Physiotherapy In general, the physiotherapist establishes a close relationship with the family throughout the course of the disease and is the only allied health professional who maintains
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M. Morrow / Physiotherapy 90 (2004) 145–150
constant contact through the on going cycle of treatment, management and review, from diagnosis to death. Although other healthcare professionals work closely with these families, it tends to be through problem focused intervention, followed by withdrawal of the service until the next challenge emerges. The nature of the input is constantly evolving and an experienced physiotherapist will work in anticipation of the next stage of the disease progression. Siegel [7] describes the physiotherapist’s role being divided in to two key areas. The first is that of teacher preparing the young person in his own management and instructing the family on stretching and exercise to help maintain muscle length. Secondly, the physiotherapist will work as an assessor monitoring muscle strength, imbalance and contractures. This role has dramatically increased and the advent of social inclusion policies in schools and the workplace has also set new challenges for these young people and their therapists [12]. Technology in the form of seating systems and wheelchairs has provided the young person with a means to interact to a greater degree, with the world outside of the home. Therapists are involved with the assessment and prescription of seating systems, which are constantly reviewed to meet the needs of the young man throughout every stage of his disease. Recently, clients have identified that for those in the latter stages of Duchenne Muscular Dystrophy, a wheelchair, which can support a portable ventilator, should be provided to allow the client to continue experiencing life out with his home. It is also true to say that physiotherapy management must be a partnership with the physiotherapist responding to the perceived or expressed needs of the client as well as the normative needs, i.e. those defined by professionals which rely upon the professional judgment of an individual or group of individuals [13]. Mead [2] states that patients can and should make their own decisions about their healthcare; physiotherapists should facilitate dialogue and shared decision-making, to ensure that patients receive both effective and relevant interventions (p. 284). This concept reflects the premise that patient compliance will be improved through mutual understanding [13] however it can be difficult for parents to accept that the person who needs to be bathed, dressed and fed has become of an age where decision-making may be his only attempt at independence.
• Do these factors influence the management of this group? • What is the evidence to date on how families feel they are affected by the condition?
Methodology Using the key words Duchenne Muscular Dystrophy, feelings, perception and lifestyle, a literature search was undertaken of Pubmed, Medline, Psychlit, The British Library Database, and The Cochrane Library. Due to the lack of evidence in this area, a search spanning the last three decades was instigated.
Literature review Twelve papers were identified which dealt with the feelings and emotions of patients and families affected by Duchenne Muscular Dystrophy. All papers, which contained information on the feelings of the child or family affected by Duchenne Muscular Dystrophy and pertained to Brewer’s six injunctions for good practice within qualitative research, were included [14]. Strategies employed by researchers included questionnaires [15,16], interviews and group experience [4,5,17–21], observation [20–22] and literature review [6]. Thompson et al. [23] used a combination of interviews and questionnaires. The literature was then graded according to Sackett’s framework, which assesses the strength of evidence of clinical research based upon the methodological design of the study [24] (Table 1). Although 5 of the 11 papers (Polakoff et al. [6] was not classified in the above table as it is a literature review) were heavily weighted towards the lower end of Sackett’s framework, they nonetheless provide the reader with a valuable insight into the psychosocial impact of the condition and were therefore included in this review. The difficulty in obtaining a control group with a limited sample population was acknowledged. Considering the lack of literature available, common themes are discussed by a variety of professions, spanTable 1 Relationship between levels of evidence and literature review
Aim and objectives of the literature review This literature review was undertaken to establish an evidence base prior to the commencement of a pilot study comparing the views of adolescents with Duchenne Muscular Dystrophy to those of their parents. The questions addressed were: • Do young men with Duchenne Muscular Dystrophy have the same perception of their health and lifestyle compared to that of their parents?
Level 1: Large randomised trials with statistically significant results Level 2: Small randomised trials with no statistically significant results Level 3: Non-randomised concurrent cohort comparisons between contemporaneous patients, i.e. controlled single subject pre-post or matched case control trials Level 4: Non-randomised trials with retrospective cohort, i.e. non-experimental studies such as comparative and correlational descriptive and case studies Level 5: Case studies with no controls
[23] [15] [16,17,19,22]
[4,5,18]
[20,21]
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ning the last three decades. Despite medical advances, it is interesting that the feelings and situations described by families over 30 years ago are still comparable with the views expressed by families today. Although the management of muscular dystrophy has progressed, it may be that expectations of the general public have also risen and the corresponding feelings of anxiety and frustration remain unchanged. Ahlstrom and Gunnarsson [16] note that psychosocial considerations influence the standard medical model, and this presents a multidimensional understanding of the problems associated with severe and progressive illnesses. Combining the way in which progressive diseases are managed physically while attempting to understand and alleviate some of the psychological distress is a concept that is gaining momentum in the field of medicine. Current government policy advocates shared knowledge and expertise among health, education and social services reflecting a pathway towards trans disciplinary working [25]. Kornfield and Siegel [22] investigated the use of group work to facilitate parents of affected children to explore their fears and concerns whilst increasing their own awareness of their attitudes towards themselves and their families. The outcome of this study demonstrates that parents felt better and indeed improved due to their ability to share difficult experiences. This concept of universality—i.e. increasing awareness of others in a similar predicament, may be a useful addition to conservative means when assisting the family’s management and acceptance of the disease. This study also upholds the premise that in Duchenne Muscular Dystrophy the patient is the family and healthcare professionals need to ensure they are taking account of the wider family circumstances. This paper, however, is limited in its approach as group participants were not randomised and no control group was undertaken. Bayrakal [17] undertook a similar investigation with adolescents who suffered from muscular dystrophy with teachers and caregivers reporting significant improvement in the attitudes and functioning of the group members (p. 1293). This study pertained to a focus group and despite the interesting themes, which emerged, the author’s input into the group work, may have introduced bias. Buchanan et al. [4] revealed similar findings via the process of open-ended interviews. Interestingly, 76% of the families identified their main concern was associated with psychological distress. The prevailing stress was the anticipation of the future and although not mentioned, death was implied on many occasions. Buchanan et al. [4] discussed the ways in which parents had to adapt to the increasing disability of their sons. The growing daily chores were reported to have a cumulative effect upon the families and the perpetual restrictions on the family’s freedom and social activities were proving to accelerate the stresses already experienced. Buchanan et al. [4] concluded that emotional strain on families caring for a child with muscular dystrophy presented problems in the overall management of
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the child but called for more research in to this area. The study had a more systematic approach but only targeted patients attending a routine clinic visit and results from families who were non-attendees may have established further viewpoints. Firth et al. [18] interviewed 66 parents, with mothers more ready to participate. During the interviews, parents reported a total of 113 different problems. It was felt that this was an underestimate as parents only reported current problems and not previous difficulties that had been rectified. These problems were classified into three categories: • Service delivery (services, aids and allowances). • Activities of daily living (lifting, accommodation, bathing, dressing, toileting and feeding). • Emotional problems (the affected boys depression, the parents emotional problems in watching their son deteriorate, parental isolation and awareness of society’s attitude to disabled people). Similar findings were reported by Thompson et al. [23]. Firth et al. [18], concluded that families affected by Duchenne Muscular Dystrophy were placed under additional stress due to lack of resources which would help with the overall daily caring of affected children. The association between good communication and the adjustment of adolescents to their disease was also highlighted. Once again, Firth, although taking steps to ensure reliability of the interview technique did not include families who were not attending clinic appointments. In 1991, Barbara Gagliardi undertook a very different type of study, which involved naturalistic enquiry. Gagliardi spent a great deal of time in the family home observing environmental nuances and expressing the families’ emotional responses to the challenges they faced. During this particular study, Gagliardi [20,21] identified six themes embedded in three different stages of the disease process. Stage 1: recognition In this stage, families were becoming increasingly aware of their impending limitations. Feelings of loss and fear and detachment from the world were noted. • The illusion of a ‘normal’ life fades as the boys and their family’s become more aware of the difficulties experienced with increasing muscle weakness. • The boys become conscious of society’s reaction to their disability. Stage 2: working out • Families began to develop strategies to help them cope and roles within the family became more defined. • The family change to support the dystrophic child and the family unit in essence becomes disabled too.
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Stage 3: resolution • The family’s experienced an awareness that life must go on despite the difficulties that arise on a daily basis. Many boys began to seek independence, which proved difficult for some mothers to deal with; it was noted that siblings became self-sufficient. • The families began to seek out and identify with environments that were accepting of their son’s condition [20,21]. In much of the literature, similar themes emerge where discussion is centred on areas in which families experience difficulty when raising a dystrophic child. These areas concentrate on day-to-day family interactions, which cause affected families great anxiety among which discipline, overprotection and sexuality feature strongly. Gagliardi presents an in depth case study based entirely on qualitative data and this type of research is not represented well in Sackett’s framework of evidence [24]. Nonetheless, naturalistic enquiry is a valid research tool which aims to incorporate the views and perspective of the participants without pre-empting what will be observed [14].
Discipline Kornfield and Siegel [22] report that parents of the older dystrophic child appear to displace their anger on to their ‘normal’ children believing that their dystrophic child is being punished enough by his disability. It is felt that this degree of permissiveness leads the affected child to retain underdeveloped feelings of social responsibility, control of impulses and consideration of the emotional needs and feelings of those around him. This highlights important issues for the physiotherapist who may feel treatment sessions are compromised by behaviour.
Overprotection Feelings of overprotection prevail more so in parents of children in the early stages [4,22]. Parents want to protect their sons from older children who have the same condition as this may lead to difficult questions being raised by their son, however, some parents do realize that the discomfort arises from their own distress with the inevitability of their son’s progressive disorder. Parents of older children appear to enjoy the opportunity of meeting with other families who share similar problems. They also seem to home in on problems associated with daily care in what seems to be a desperate attempt to block out their son’s growing anxieties [22].
Sexuality Kornfield and Siegel [22] describe sexuality as the social and physical evolution of sexual feelings and self-identity.
They noted that this was an area in which all the participants experienced difficulty. Some parents denied that their sons could experience sexual curiosity and found it easier to restrict exposure to sex, believing that if the child did not know about it then they would not have sexual feelings. There was also a feeling that to die prematurely was tragic but this was surpassed by never knowing sexual satisfaction with a loving partner. This study used projective techniques (drawing) comparing the dystrophic child’s views with their able bodied siblings whilst taking account of parental perceptions via interviews. Themes and variations among all of the data were compared during analysis. The information with regard to selection criteria for the sample population is unclear as in many of the older publications, which can lead to confusion during critical appraisal.
Coping mechanisms Gagliardi [21] discussed the way in which affected families described their world as becoming smaller due to self-imposed boundaries. They withdrew from difficult situations that may have posed a challenge to a family with a disabled child. In this way, parents were able to limit complicated situations. Gagliardi observed that once families accepted their situation and began to adjust by accepting aids and appliances and moving to adapted housing, their lives became more meaningful. Coping strategies also developed when the boys and their families began to meet with others affected by the disease, agreeing with the findings of Kornfield and Siegel [22].
Impact on the family According to Kornfield and Siegel [22], mothers accepted the burden of responsibility of caring for the child but with this load, experienced great difficulties with their partner and family. Many felt that their partner did not share the workload which led to marital stress and an unfair burden being placed on siblings. There was an alteration in family dynamics and siblings began to automatically acquiesce to their dystrophic brothers’ needs. Buchanan et al. [4] state that, the slow progressive chronic illness of one family member places a demand upon all healthy family members to react and adapt (p. 262). Competition between brothers also led to parental anxiety. Older sisters tended to adopt a maternal approach whilst unaffected brothers were jealous of the attention their disabled brother received. Brothers tended to provoke arguments and fights and behavioural problems in unaffected brothers were noted [4]. After a series of interviews, Witte [5] and Thompson et al. [23] reported that mothers more than any other family member, became the focus of frustration of their dystrophic sons.
M. Morrow / Physiotherapy 90 (2004) 145–150
Holroyd and Guthrie [15] also discussed the point that mothers appeared to suffer more stress than any other family member. Some mothers described themselves as being abused by their sons but were aware of the strong bond linking them and felt that if anyone should have to succumb to a tirade of verbal dissatisfaction, then it should be them. Witte also discovered that many of the mothers he interviewed felt a deep anger towards their sons for a variety of reasons. He concluded that the blameful assaults of the boys on their parents were reproductive of a process known as projective identification; a psychological process, which is both a means of defence and communication. Witte believed that boys unknowingly used this to communicate their innermost thoughts and feelings, as direct verbal communication was difficult in some circumstances. By expressing these unwanted feelings of anger and frustration, the boys were able to induce these feelings in the receiver, their mother. On the other hand, the anger expressed by parents may have been a way of avoiding the impending issues of the disease such as death, by concentrating on the emotions evoked by their sons. Witte commented that by projecting anger on to their parents, the boys were in essence ridding themselves of the guilt of the burden they placed on their mothers on a daily basis [5]. As in the Kornfield and Siegel study [22], Witte used projective techniques on the affected boys coupled with interviews of their parents. Once again, the small patient cohort led Witte to include all subjects of a residential school and perhaps if a wider population sample had been investigated, the results, particularly those pertaining to feelings of isolation, may have demonstrated a more variable response. Polakoff et al.’s review [6], also suggests that those affected by Duchenne Muscular Dystrophy have an increased risk of behaviour and psychiatric disorders and should be referred to mental health professionals when necessary. Polakoff also acknowledges the need for prospective studies with matched control groups and recognizes the limitations of small sample sizes.
Psychiatric disorders Mental health was also an issue in the Fitzpatrick and Barry [19] study who found that a significant number of affected boys suffered from depression. Communication between family members could also be problematic and this was highlighted as an additional stress. This was a cross cultural study which serves to broaden the population sample.
The adolescent To date the literature search has provided very little information on the feelings of the affected young person. Bayrakal [17] discusses a group experience of eleven ado-
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lescents between the ages of 14 and 17 years. Bayrakal [17] states that psychiatric disorders are at least twice as common among young people with a severe and progressive disorder. Behavioural problems, depression, rebelliousness and underachieving are common traits among adolescents with a physical impairment. Throughout the life of the group, it was noted that anxiety and uncertainty were expressed over the lack of group members being able to form meaningful interpersonal relationships. Bayrakal [17] describes the group’s feelings as having a conflict-ridden existence and very often, defensive behaviour was not enough to escape these feelings. Depression over lost health was ever present and the group focused on the death of people they had known to escape discussing their own demise.
Conclusion Further research is required to explore the views of the adolescent with Duchenne Muscular Dystrophy. There is a need to present a more balanced viewpoint of the feelings and perceptions of young people with this condition, as well as perceptions of siblings. One reason for the lack of evidence in this area may be that we are currently seeing a new population of young men with Duchenne Muscular Dystrophy who would not previously have survived into their late teens and early twenties. This is an area worthy of investigation to enable therapists to better understand the needs of this emerging population. It is essential for professionals to work together if the family unit is to have the best possible treatment and management available. A physiotherapist alone is not equipped to manage housing issues, education or psychological distress. However, if a good understanding of the family dynamics is taken on board, then physiotherapists are possibly in the best place to co-ordinate care and timely intervention from other disciplines. The paediatric physiotherapist works with the client in the home, the school and the hospital and therefore will have experience of the problems the family face within the framework of the health, education and social care setting. As physiotherapists are the professionals who arguably spend most time with these families, it is important for the professional to recognize key areas of difficulty and be in a position to act appropriately. An understanding of other professionals and the role of care agencies and voluntary organizations is required to be able to offer relevant advice and refer onwards to those who can best deal with a particular problem at any point in the disease progression. Failure to recognize problems, which other agencies can alleviate, is a missed opportunity. Mothers of these young men bear the burden of the physical care as well as their son’s emotional distress and it is therefore important that physiotherapists do not add to this burden by expecting mothers to undertake much of the physiotherapeutic intervention. Perhaps working more closely with care agencies and extended family, the therapist can
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manage the intervention programme by involving others outside the home. Much of the literature encountered focuses on parental feelings and there is little evidence to date, which explores the feelings of the adolescent. It is also evident from the literature that the impact of this condition is complex although similarities between families can be drawn. By exploring the biopsychosocial model more fully, the physiotherapist will be able to understand behaviour, which may be used by the patient to mask other problems and therefore ease potential difficulties; forging a strong patient partnership through mutual understanding should improve patient compliance There is no doubt that these families can prove challenging to therapists in both the physical and emotional contexts. Working with a young person whose early demise is inevitable is distressing for not only the family but indeed the therapist who will spend significant periods of time working with the young man. Gaining an in depth understanding of the families difficulties will however prepare the therapist for difficult situations which may arise such as the frustration experienced by many families over their powerlessness to alter the course of the disease. Further work in this area will elucidate the training needs of the therapist to enable them to support the physical, social and psychological needs of the adolescent and the family unit. Key messages • In order to provide the optimum service, therapists need to explore the biopsychosocial aspects of this condition in order to forge good patient partnerships. Physiotherapists work across health, education and social care settings and are in a good position to act as key workers for this client group. • Families feel that the psychological stress of this condition outweighs the physical stresses they experience on a daily basis. • Physiotherapists should embrace multi disciplinary inter agency working to ensure timely intervention.
References [1] Gard G, Gyllensten AL, Salford E, Ekdahl C. Physical therapists’ emotional expressions in interviews about factors important for interaction with patients. Physiotherapy 2000;86(5):229–40.
[2] Mead J. Patient partnership. Physiotherapy 2000;86(6):282–4. [3] Tecklin JS. Paediatric physical therapy. 3rd ed. Philadelphia: Lippincott; 1999 [chapter 6]. [4] Buchanan D, LaBarbera C, Roelofs R, Olson W. Reactions of families to children with Duchenne Muscular Dystrophy. Gen Hosp Psychiatry 1979;3:262–9. [5] Witte R. The psychosocial impact of a progressive physical handicap and terminal illness (Duchenne Muscular Dystrophy) on adolescents and their families. Br J Med Psychol 1985;58:l79–187. [6] Polakoff RJ, Morton AA, Koch KD, Rios CM. The psychosocial and cognitive impact of Duchenne Muscular Dystrophy. Semin Paediatr Neurol 1998;5(2):116–23. [7] Siegel IM. The management of muscular dystrophy: a clinical review. Muscle Nerve 1978:453–60. [8] Hilton T, Orr R, Perkin R, Ashwal S. End of life care in Duchenne Muscular Dystrophy. Pediatr Neurol 1993;9(3):165–77. [9] Vignos P, Wagner M, Karlinchak B, Katirji B. Evaluation of a program for long-term treatment of Duchenne Muscular Dystrophy. J Bone Joint Surg 1996;78A(12):1844–52. [10] Brook M. A clinician’s view of neuromuscular disease. USA: Williams & Wilkins; 1986. [11] Eagle M, Baudouin S, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne Muscular Dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromusc Disord 2002;12:926–9. [12] Department for Education and Employment. The Disability Discrimination Act 1995. Revised 2001. [13] Naidoo J, Wills J. Health promotion, foundations for practice. UK: Balliere Tindall; 1998. [14] Cormack D. The research process in nursing. 4th ed. UK: Blackwell Science; 2000. [15] Holroyd J, Guthrie D. Stress in families of children with neuromuscular disease. J Clin Psychol 1979;35(4):734–9. [16] Ahlstrom G, Gunnarsson LG. Disability and quality of life in individuals with muscular dystrophy. Scand J Rehabil Med 1996;28:147–57. [17] Bayrakal S. A group experience with chronically disabled adolescents. Am J Psychiatry 1975;132(12):1291–4. [18] Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews of parents with boys suffering from Duchenne Muscular Dystrophy. Dev Med Child Neurol 1983;25:466–71. [19] Fitzpatrick C, Barry C. Cultural differences in family communication about Duchenne Muscular Dystrophy. Dev Med Child Neurol 1990;32:967–73. [20] Gagliardi B. The impact of Duchenne Muscular Dystrophy on families. Orthop Nurs 1991;10(5):41–9. [21] Gagliardi B. The family’s experience of living with a child with Duchenne Muscular Dystrophy. Appl Nurs Res 1991;4(4):159–64. [22] Kornfield MS, Siegel IM. Parental group therapy in the management of a fatal childhood disease. Health Soc Work 1979;4(3):99–118. [23] Thompson RJ, Zemen JL, Fanurik D, Sirotkin-Roses M. The role of parent stress and coping and family functioning in parent and child adjustment to Duchenne Muscular Dystrophy. J Clin Psychol 1992;48(1):11–9. [24] Sackett DL. Rules of evidence and clinical recommendations on the use of antithrombotic agents. Chest 1986;89(2):2–35. [25] Department of Health. A health service of all talents: developing the NHS workforce. London: DoH; 2000.
Duchenne Muscular Dystrophy—a biopsychosocial approach Marina Morrow Yorkhill NHS Trust, Dalnair Street, Glasgow G3 8SJ, Scotland, UK
Abstract This paper highlights the key role that paediatric physiotherapists have in the treatment and management of neuromuscular disorders. However, in order to fully appreciate this role, an understanding of the psychosocial implications of progressive neuromuscular disorders, and the impact this has upon the family unit is necessary. Duchenne Muscular Dystrophy is the most common childhood neuromuscular disorder and many texts acknowledge the paradigm that the family is the patient. Management of this group should take into account the impact of the social, emotional and physical manifestation of the condition upon the family unit. This review discusses the literature to date in this field and offers an insight into the complex family dynamics of caring for a young man with Duchenne Muscular Dystrophy. By exploring the psychosocial aspect of this degenerative disorder, the physiotherapist will be better equipped to manage the changing needs of this client group whilst assisting the family to adapt to each new stage of the disease progression. © 2004 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved. Databases: Pubmed; Medline and Psychlit; The British Library Database; The Cochrane Library Keywords: Duchenne Muscular Dystrophy; Feelings; Perception; Lifestyle
Background The biopsychosocial model calls upon healthcare professionals to consider biological, psychological and social factors to enable therapists to deliver appropriate healthcare and establish a good patient partnership [1,2]. Paediatric physiotherapists work closely with families and are aware that the state of family dynamics can influence treatment outcomes and it is therefore important that this model is explored to enable an effective patient partnership to be forged; if the family truly is the patient then in this case, it is difficult to determine with whom the partnership exists—parent, son or both.
Duchenne Muscular Dystrophy The pathology and physiology of Duchenne Muscular Dystrophy is well documented. Tecklin [3] describes this condition as, one of the most prevalent and disabling childhood myopathies (p. 224). It is a genetic disorder, and is transferred from mother to son via a compromised sex-linked X chromosome [4]. It affects 3:10,000 boys per year [5] E-mail address: [email protected] (M. Morrow).
with approximately six new cases diagnosed each year in the West of Scotland. Diagnosis is usually confirmed between the age of 2 and 7 years and boys become progressively weaker requiring the use of a wheelchair by the age of 10 [6]. The condition is characterised by muscle weakness, which inevitably leads to joint contractures, scoliosis, loss of ambulation and upper limb function resulting inexorably in a complete and total dependent existence [7–9]. The cause of death is usually the result of diaphragmatic and respiratory muscle weakness coupled with poor ability to cough [10]. Young men with this condition can now expect to live in to their mid twenties through the advent of non-invasive nocturnal ventilation [11]. Siegel [7] expresses the view that incurable is not synonymous with untreatable. Like many, he advocates the value of the multidisciplinary team approach acknowledging the multi faceted role of the physiotherapist, a view that is entirely appropriate nearly 30 years later.
Physiotherapy In general, the physiotherapist establishes a close relationship with the family throughout the course of the disease and is the only allied health professional who maintains
0031-9406/$ – see front matter © 2004 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.physio.2004.03.004
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M. Morrow / Physiotherapy 90 (2004) 145–150
constant contact through the on going cycle of treatment, management and review, from diagnosis to death. Although other healthcare professionals work closely with these families, it tends to be through problem focused intervention, followed by withdrawal of the service until the next challenge emerges. The nature of the input is constantly evolving and an experienced physiotherapist will work in anticipation of the next stage of the disease progression. Siegel [7] describes the physiotherapist’s role being divided in to two key areas. The first is that of teacher preparing the young person in his own management and instructing the family on stretching and exercise to help maintain muscle length. Secondly, the physiotherapist will work as an assessor monitoring muscle strength, imbalance and contractures. This role has dramatically increased and the advent of social inclusion policies in schools and the workplace has also set new challenges for these young people and their therapists [12]. Technology in the form of seating systems and wheelchairs has provided the young person with a means to interact to a greater degree, with the world outside of the home. Therapists are involved with the assessment and prescription of seating systems, which are constantly reviewed to meet the needs of the young man throughout every stage of his disease. Recently, clients have identified that for those in the latter stages of Duchenne Muscular Dystrophy, a wheelchair, which can support a portable ventilator, should be provided to allow the client to continue experiencing life out with his home. It is also true to say that physiotherapy management must be a partnership with the physiotherapist responding to the perceived or expressed needs of the client as well as the normative needs, i.e. those defined by professionals which rely upon the professional judgment of an individual or group of individuals [13]. Mead [2] states that patients can and should make their own decisions about their healthcare; physiotherapists should facilitate dialogue and shared decision-making, to ensure that patients receive both effective and relevant interventions (p. 284). This concept reflects the premise that patient compliance will be improved through mutual understanding [13] however it can be difficult for parents to accept that the person who needs to be bathed, dressed and fed has become of an age where decision-making may be his only attempt at independence.
• Do these factors influence the management of this group? • What is the evidence to date on how families feel they are affected by the condition?
Methodology Using the key words Duchenne Muscular Dystrophy, feelings, perception and lifestyle, a literature search was undertaken of Pubmed, Medline, Psychlit, The British Library Database, and The Cochrane Library. Due to the lack of evidence in this area, a search spanning the last three decades was instigated.
Literature review Twelve papers were identified which dealt with the feelings and emotions of patients and families affected by Duchenne Muscular Dystrophy. All papers, which contained information on the feelings of the child or family affected by Duchenne Muscular Dystrophy and pertained to Brewer’s six injunctions for good practice within qualitative research, were included [14]. Strategies employed by researchers included questionnaires [15,16], interviews and group experience [4,5,17–21], observation [20–22] and literature review [6]. Thompson et al. [23] used a combination of interviews and questionnaires. The literature was then graded according to Sackett’s framework, which assesses the strength of evidence of clinical research based upon the methodological design of the study [24] (Table 1). Although 5 of the 11 papers (Polakoff et al. [6] was not classified in the above table as it is a literature review) were heavily weighted towards the lower end of Sackett’s framework, they nonetheless provide the reader with a valuable insight into the psychosocial impact of the condition and were therefore included in this review. The difficulty in obtaining a control group with a limited sample population was acknowledged. Considering the lack of literature available, common themes are discussed by a variety of professions, spanTable 1 Relationship between levels of evidence and literature review
Aim and objectives of the literature review This literature review was undertaken to establish an evidence base prior to the commencement of a pilot study comparing the views of adolescents with Duchenne Muscular Dystrophy to those of their parents. The questions addressed were: • Do young men with Duchenne Muscular Dystrophy have the same perception of their health and lifestyle compared to that of their parents?
Level 1: Large randomised trials with statistically significant results Level 2: Small randomised trials with no statistically significant results Level 3: Non-randomised concurrent cohort comparisons between contemporaneous patients, i.e. controlled single subject pre-post or matched case control trials Level 4: Non-randomised trials with retrospective cohort, i.e. non-experimental studies such as comparative and correlational descriptive and case studies Level 5: Case studies with no controls
[23] [15] [16,17,19,22]
[4,5,18]
[20,21]
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ning the last three decades. Despite medical advances, it is interesting that the feelings and situations described by families over 30 years ago are still comparable with the views expressed by families today. Although the management of muscular dystrophy has progressed, it may be that expectations of the general public have also risen and the corresponding feelings of anxiety and frustration remain unchanged. Ahlstrom and Gunnarsson [16] note that psychosocial considerations influence the standard medical model, and this presents a multidimensional understanding of the problems associated with severe and progressive illnesses. Combining the way in which progressive diseases are managed physically while attempting to understand and alleviate some of the psychological distress is a concept that is gaining momentum in the field of medicine. Current government policy advocates shared knowledge and expertise among health, education and social services reflecting a pathway towards trans disciplinary working [25]. Kornfield and Siegel [22] investigated the use of group work to facilitate parents of affected children to explore their fears and concerns whilst increasing their own awareness of their attitudes towards themselves and their families. The outcome of this study demonstrates that parents felt better and indeed improved due to their ability to share difficult experiences. This concept of universality—i.e. increasing awareness of others in a similar predicament, may be a useful addition to conservative means when assisting the family’s management and acceptance of the disease. This study also upholds the premise that in Duchenne Muscular Dystrophy the patient is the family and healthcare professionals need to ensure they are taking account of the wider family circumstances. This paper, however, is limited in its approach as group participants were not randomised and no control group was undertaken. Bayrakal [17] undertook a similar investigation with adolescents who suffered from muscular dystrophy with teachers and caregivers reporting significant improvement in the attitudes and functioning of the group members (p. 1293). This study pertained to a focus group and despite the interesting themes, which emerged, the author’s input into the group work, may have introduced bias. Buchanan et al. [4] revealed similar findings via the process of open-ended interviews. Interestingly, 76% of the families identified their main concern was associated with psychological distress. The prevailing stress was the anticipation of the future and although not mentioned, death was implied on many occasions. Buchanan et al. [4] discussed the ways in which parents had to adapt to the increasing disability of their sons. The growing daily chores were reported to have a cumulative effect upon the families and the perpetual restrictions on the family’s freedom and social activities were proving to accelerate the stresses already experienced. Buchanan et al. [4] concluded that emotional strain on families caring for a child with muscular dystrophy presented problems in the overall management of
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the child but called for more research in to this area. The study had a more systematic approach but only targeted patients attending a routine clinic visit and results from families who were non-attendees may have established further viewpoints. Firth et al. [18] interviewed 66 parents, with mothers more ready to participate. During the interviews, parents reported a total of 113 different problems. It was felt that this was an underestimate as parents only reported current problems and not previous difficulties that had been rectified. These problems were classified into three categories: • Service delivery (services, aids and allowances). • Activities of daily living (lifting, accommodation, bathing, dressing, toileting and feeding). • Emotional problems (the affected boys depression, the parents emotional problems in watching their son deteriorate, parental isolation and awareness of society’s attitude to disabled people). Similar findings were reported by Thompson et al. [23]. Firth et al. [18], concluded that families affected by Duchenne Muscular Dystrophy were placed under additional stress due to lack of resources which would help with the overall daily caring of affected children. The association between good communication and the adjustment of adolescents to their disease was also highlighted. Once again, Firth, although taking steps to ensure reliability of the interview technique did not include families who were not attending clinic appointments. In 1991, Barbara Gagliardi undertook a very different type of study, which involved naturalistic enquiry. Gagliardi spent a great deal of time in the family home observing environmental nuances and expressing the families’ emotional responses to the challenges they faced. During this particular study, Gagliardi [20,21] identified six themes embedded in three different stages of the disease process. Stage 1: recognition In this stage, families were becoming increasingly aware of their impending limitations. Feelings of loss and fear and detachment from the world were noted. • The illusion of a ‘normal’ life fades as the boys and their family’s become more aware of the difficulties experienced with increasing muscle weakness. • The boys become conscious of society’s reaction to their disability. Stage 2: working out • Families began to develop strategies to help them cope and roles within the family became more defined. • The family change to support the dystrophic child and the family unit in essence becomes disabled too.
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Stage 3: resolution • The family’s experienced an awareness that life must go on despite the difficulties that arise on a daily basis. Many boys began to seek independence, which proved difficult for some mothers to deal with; it was noted that siblings became self-sufficient. • The families began to seek out and identify with environments that were accepting of their son’s condition [20,21]. In much of the literature, similar themes emerge where discussion is centred on areas in which families experience difficulty when raising a dystrophic child. These areas concentrate on day-to-day family interactions, which cause affected families great anxiety among which discipline, overprotection and sexuality feature strongly. Gagliardi presents an in depth case study based entirely on qualitative data and this type of research is not represented well in Sackett’s framework of evidence [24]. Nonetheless, naturalistic enquiry is a valid research tool which aims to incorporate the views and perspective of the participants without pre-empting what will be observed [14].
Discipline Kornfield and Siegel [22] report that parents of the older dystrophic child appear to displace their anger on to their ‘normal’ children believing that their dystrophic child is being punished enough by his disability. It is felt that this degree of permissiveness leads the affected child to retain underdeveloped feelings of social responsibility, control of impulses and consideration of the emotional needs and feelings of those around him. This highlights important issues for the physiotherapist who may feel treatment sessions are compromised by behaviour.
Overprotection Feelings of overprotection prevail more so in parents of children in the early stages [4,22]. Parents want to protect their sons from older children who have the same condition as this may lead to difficult questions being raised by their son, however, some parents do realize that the discomfort arises from their own distress with the inevitability of their son’s progressive disorder. Parents of older children appear to enjoy the opportunity of meeting with other families who share similar problems. They also seem to home in on problems associated with daily care in what seems to be a desperate attempt to block out their son’s growing anxieties [22].
Sexuality Kornfield and Siegel [22] describe sexuality as the social and physical evolution of sexual feelings and self-identity.
They noted that this was an area in which all the participants experienced difficulty. Some parents denied that their sons could experience sexual curiosity and found it easier to restrict exposure to sex, believing that if the child did not know about it then they would not have sexual feelings. There was also a feeling that to die prematurely was tragic but this was surpassed by never knowing sexual satisfaction with a loving partner. This study used projective techniques (drawing) comparing the dystrophic child’s views with their able bodied siblings whilst taking account of parental perceptions via interviews. Themes and variations among all of the data were compared during analysis. The information with regard to selection criteria for the sample population is unclear as in many of the older publications, which can lead to confusion during critical appraisal.
Coping mechanisms Gagliardi [21] discussed the way in which affected families described their world as becoming smaller due to self-imposed boundaries. They withdrew from difficult situations that may have posed a challenge to a family with a disabled child. In this way, parents were able to limit complicated situations. Gagliardi observed that once families accepted their situation and began to adjust by accepting aids and appliances and moving to adapted housing, their lives became more meaningful. Coping strategies also developed when the boys and their families began to meet with others affected by the disease, agreeing with the findings of Kornfield and Siegel [22].
Impact on the family According to Kornfield and Siegel [22], mothers accepted the burden of responsibility of caring for the child but with this load, experienced great difficulties with their partner and family. Many felt that their partner did not share the workload which led to marital stress and an unfair burden being placed on siblings. There was an alteration in family dynamics and siblings began to automatically acquiesce to their dystrophic brothers’ needs. Buchanan et al. [4] state that, the slow progressive chronic illness of one family member places a demand upon all healthy family members to react and adapt (p. 262). Competition between brothers also led to parental anxiety. Older sisters tended to adopt a maternal approach whilst unaffected brothers were jealous of the attention their disabled brother received. Brothers tended to provoke arguments and fights and behavioural problems in unaffected brothers were noted [4]. After a series of interviews, Witte [5] and Thompson et al. [23] reported that mothers more than any other family member, became the focus of frustration of their dystrophic sons.
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Holroyd and Guthrie [15] also discussed the point that mothers appeared to suffer more stress than any other family member. Some mothers described themselves as being abused by their sons but were aware of the strong bond linking them and felt that if anyone should have to succumb to a tirade of verbal dissatisfaction, then it should be them. Witte also discovered that many of the mothers he interviewed felt a deep anger towards their sons for a variety of reasons. He concluded that the blameful assaults of the boys on their parents were reproductive of a process known as projective identification; a psychological process, which is both a means of defence and communication. Witte believed that boys unknowingly used this to communicate their innermost thoughts and feelings, as direct verbal communication was difficult in some circumstances. By expressing these unwanted feelings of anger and frustration, the boys were able to induce these feelings in the receiver, their mother. On the other hand, the anger expressed by parents may have been a way of avoiding the impending issues of the disease such as death, by concentrating on the emotions evoked by their sons. Witte commented that by projecting anger on to their parents, the boys were in essence ridding themselves of the guilt of the burden they placed on their mothers on a daily basis [5]. As in the Kornfield and Siegel study [22], Witte used projective techniques on the affected boys coupled with interviews of their parents. Once again, the small patient cohort led Witte to include all subjects of a residential school and perhaps if a wider population sample had been investigated, the results, particularly those pertaining to feelings of isolation, may have demonstrated a more variable response. Polakoff et al.’s review [6], also suggests that those affected by Duchenne Muscular Dystrophy have an increased risk of behaviour and psychiatric disorders and should be referred to mental health professionals when necessary. Polakoff also acknowledges the need for prospective studies with matched control groups and recognizes the limitations of small sample sizes.
Psychiatric disorders Mental health was also an issue in the Fitzpatrick and Barry [19] study who found that a significant number of affected boys suffered from depression. Communication between family members could also be problematic and this was highlighted as an additional stress. This was a cross cultural study which serves to broaden the population sample.
The adolescent To date the literature search has provided very little information on the feelings of the affected young person. Bayrakal [17] discusses a group experience of eleven ado-
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lescents between the ages of 14 and 17 years. Bayrakal [17] states that psychiatric disorders are at least twice as common among young people with a severe and progressive disorder. Behavioural problems, depression, rebelliousness and underachieving are common traits among adolescents with a physical impairment. Throughout the life of the group, it was noted that anxiety and uncertainty were expressed over the lack of group members being able to form meaningful interpersonal relationships. Bayrakal [17] describes the group’s feelings as having a conflict-ridden existence and very often, defensive behaviour was not enough to escape these feelings. Depression over lost health was ever present and the group focused on the death of people they had known to escape discussing their own demise.
Conclusion Further research is required to explore the views of the adolescent with Duchenne Muscular Dystrophy. There is a need to present a more balanced viewpoint of the feelings and perceptions of young people with this condition, as well as perceptions of siblings. One reason for the lack of evidence in this area may be that we are currently seeing a new population of young men with Duchenne Muscular Dystrophy who would not previously have survived into their late teens and early twenties. This is an area worthy of investigation to enable therapists to better understand the needs of this emerging population. It is essential for professionals to work together if the family unit is to have the best possible treatment and management available. A physiotherapist alone is not equipped to manage housing issues, education or psychological distress. However, if a good understanding of the family dynamics is taken on board, then physiotherapists are possibly in the best place to co-ordinate care and timely intervention from other disciplines. The paediatric physiotherapist works with the client in the home, the school and the hospital and therefore will have experience of the problems the family face within the framework of the health, education and social care setting. As physiotherapists are the professionals who arguably spend most time with these families, it is important for the professional to recognize key areas of difficulty and be in a position to act appropriately. An understanding of other professionals and the role of care agencies and voluntary organizations is required to be able to offer relevant advice and refer onwards to those who can best deal with a particular problem at any point in the disease progression. Failure to recognize problems, which other agencies can alleviate, is a missed opportunity. Mothers of these young men bear the burden of the physical care as well as their son’s emotional distress and it is therefore important that physiotherapists do not add to this burden by expecting mothers to undertake much of the physiotherapeutic intervention. Perhaps working more closely with care agencies and extended family, the therapist can
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manage the intervention programme by involving others outside the home. Much of the literature encountered focuses on parental feelings and there is little evidence to date, which explores the feelings of the adolescent. It is also evident from the literature that the impact of this condition is complex although similarities between families can be drawn. By exploring the biopsychosocial model more fully, the physiotherapist will be able to understand behaviour, which may be used by the patient to mask other problems and therefore ease potential difficulties; forging a strong patient partnership through mutual understanding should improve patient compliance There is no doubt that these families can prove challenging to therapists in both the physical and emotional contexts. Working with a young person whose early demise is inevitable is distressing for not only the family but indeed the therapist who will spend significant periods of time working with the young man. Gaining an in depth understanding of the families difficulties will however prepare the therapist for difficult situations which may arise such as the frustration experienced by many families over their powerlessness to alter the course of the disease. Further work in this area will elucidate the training needs of the therapist to enable them to support the physical, social and psychological needs of the adolescent and the family unit. Key messages • In order to provide the optimum service, therapists need to explore the biopsychosocial aspects of this condition in order to forge good patient partnerships. Physiotherapists work across health, education and social care settings and are in a good position to act as key workers for this client group. • Families feel that the psychological stress of this condition outweighs the physical stresses they experience on a daily basis. • Physiotherapists should embrace multi disciplinary inter agency working to ensure timely intervention.
References [1] Gard G, Gyllensten AL, Salford E, Ekdahl C. Physical therapists’ emotional expressions in interviews about factors important for interaction with patients. Physiotherapy 2000;86(5):229–40.
[2] Mead J. Patient partnership. Physiotherapy 2000;86(6):282–4. [3] Tecklin JS. Paediatric physical therapy. 3rd ed. Philadelphia: Lippincott; 1999 [chapter 6]. [4] Buchanan D, LaBarbera C, Roelofs R, Olson W. Reactions of families to children with Duchenne Muscular Dystrophy. Gen Hosp Psychiatry 1979;3:262–9. [5] Witte R. The psychosocial impact of a progressive physical handicap and terminal illness (Duchenne Muscular Dystrophy) on adolescents and their families. Br J Med Psychol 1985;58:l79–187. [6] Polakoff RJ, Morton AA, Koch KD, Rios CM. The psychosocial and cognitive impact of Duchenne Muscular Dystrophy. Semin Paediatr Neurol 1998;5(2):116–23. [7] Siegel IM. The management of muscular dystrophy: a clinical review. Muscle Nerve 1978:453–60. [8] Hilton T, Orr R, Perkin R, Ashwal S. End of life care in Duchenne Muscular Dystrophy. Pediatr Neurol 1993;9(3):165–77. [9] Vignos P, Wagner M, Karlinchak B, Katirji B. Evaluation of a program for long-term treatment of Duchenne Muscular Dystrophy. J Bone Joint Surg 1996;78A(12):1844–52. [10] Brook M. A clinician’s view of neuromuscular disease. USA: Williams & Wilkins; 1986. [11] Eagle M, Baudouin S, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne Muscular Dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromusc Disord 2002;12:926–9. [12] Department for Education and Employment. The Disability Discrimination Act 1995. Revised 2001. [13] Naidoo J, Wills J. Health promotion, foundations for practice. UK: Balliere Tindall; 1998. [14] Cormack D. The research process in nursing. 4th ed. UK: Blackwell Science; 2000. [15] Holroyd J, Guthrie D. Stress in families of children with neuromuscular disease. J Clin Psychol 1979;35(4):734–9. [16] Ahlstrom G, Gunnarsson LG. Disability and quality of life in individuals with muscular dystrophy. Scand J Rehabil Med 1996;28:147–57. [17] Bayrakal S. A group experience with chronically disabled adolescents. Am J Psychiatry 1975;132(12):1291–4. [18] Firth M, Gardner-Medwin D, Hosking G, Wilkinson E. Interviews of parents with boys suffering from Duchenne Muscular Dystrophy. Dev Med Child Neurol 1983;25:466–71. [19] Fitzpatrick C, Barry C. Cultural differences in family communication about Duchenne Muscular Dystrophy. Dev Med Child Neurol 1990;32:967–73. [20] Gagliardi B. The impact of Duchenne Muscular Dystrophy on families. Orthop Nurs 1991;10(5):41–9. [21] Gagliardi B. The family’s experience of living with a child with Duchenne Muscular Dystrophy. Appl Nurs Res 1991;4(4):159–64. [22] Kornfield MS, Siegel IM. Parental group therapy in the management of a fatal childhood disease. Health Soc Work 1979;4(3):99–118. [23] Thompson RJ, Zemen JL, Fanurik D, Sirotkin-Roses M. The role of parent stress and coping and family functioning in parent and child adjustment to Duchenne Muscular Dystrophy. J Clin Psychol 1992;48(1):11–9. [24] Sackett DL. Rules of evidence and clinical recommendations on the use of antithrombotic agents. Chest 1986;89(2):2–35. [25] Department of Health. A health service of all talents: developing the NHS workforce. London: DoH; 2000.