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Physical and Mental Health of Mothers Caring for a Child With Rett Syndrome

^a Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia
^b Pritzker School of Medicine, Kennedy Mental Retardation Center, University of Chicago, Chicago, Illinois
^c Developmental and Behavioral Pediatrics, Comer Children's and La Rabida Children's Hospitals, Chicago, Illinois

	ABSTRACT

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OBJECTIVES. Our goal was to investigate the physical and mental health of mothers who care for a child with Rett syndrome.

METHODS. We assessed maternal physical and mental health by using the SF-12 version 1 physical component summary and mental component summary scores as the outcome measures of interest. Mothers (n = 135) of children with Rett syndrome completed the SF-12 measure as part of the Australian Rett Syndrome Study in 2002. The analysis investigated linear relationships between physical and mental health scores and maternal, family, and child characteristics.

RESULTS. Mothers ranged in age from 21 to 60 years and their children from 3 to 27 years. Nearly half of these mothers (47.4%) indicated that they worked full-time or part-time outside the home, and 41% had a combined family (gross) income of <40000 Australian dollars. The resultant model for physical health demonstrated that the following factors were positively associated with better maternal physical health: the mother working full-time or part-time outside the home, having some high school education, having private health insurance, the child not having breathing problems in the last 2 years, the child not having home-based structured therapy, and high scores on the Family Resource Scale (indicating adequacy of time resources for basic and family needs). The resultant model for mental health demonstrated that the following factors were positively associated with better maternal mental health: the mother working full-time or part-time outside the home, the child not having a fracture in the last 2 years, lesser reporting of facial stereotypes and involuntary facial movements, being in a well-adjusted marriage, and having low stress scores.

CONCLUSIONS. Our study suggests that the most important predictors of maternal physical and emotional health are child behavior, caregiver demands, and family function.

Key Words: Rett syndrome • SF-12 • caregiver • disability

Abbreviations: RTT—Rett syndrome • MECP2—methyl-CpG-binding protein 2 gene • PCS—physical component summary • MCS—mental component summary • WeeFIM—Functional Independence Measure for Children • RSBQ—Rett Syndrome Behavior Questionnaire • ARIA—Accessibility/Remoteness Index of Australia • SEIFA—Socio-Economic Indexes for Area

Rett syndrome (RTT) is a severe neurodevelopmental disorder that mainly affects females and is usually associated with mutations in the methyl-CpG-binding protein 2 gene (MECP2).^1,2 The considerable variation in RTT presentation and symptom severity has been the subject of a number of genotype-phenotype studies.^3–10 Individuals with RTT generally have apparently normal development during the first 6 months of life followed by deceleration in head growth; loss of hand and communication skills between 6 and 30 months; psychomotor retardation; the acquisition of stereotypical hand movements; and gait or truncal apraxia between 1 and 4 years of age. They may also develop breathing dysfunction, electroencephalographic abnormalities, seizures, spasticity, peripheral vasomotor disturbance, scoliosis, growth retardation, hypotrophic feet, and osteopenia.^11,12 The prevalence of RTT in Australia was 0.88 per 10000 females aged 5 to 18 years in 2004, with a cumulative incidence of 1.18 per 10000 females by age 15.¹³

There is a large body of evidence supporting the notion that mothers caring for a disabled child experience more adverse physical and mental health outcomes than those caring for a normal child.^14–18 The relationship between caregiving and health is generally described in terms of stress, but it is not entirely clear why some mothers cope with stress better than others. Lazarus and Folkman¹⁹ defined coping as the process of managing demands, whether external or internal, that are appraised as taxing or exceeding the resources of the person. The process model of stress and coping by Lazarus²⁰ includes 2 groups of coping resources that are crucial to the coping process and come under the headings of personal and socioecological factors. Personal coping resources are both physical and psychological variables, whereas the socioecological resources are found in an individual's environment or social context.²¹ Specific factors that are known or thought to modify the effects of stress on the physical health and/or mental well-being of caregivers of disabled children include burden of care,^14,22,23 child's age²³ and gender,²⁴ child's behavior,^22,25–27 family functioning,^22,25 family resources and social support,^{17,18,24,25,28–31} family-centered caregiving,²⁵ coping style,³² maternal employment,²⁶ marital status^33,34 and satisfaction,³⁵ and socioeconomic status.^36,37

Mothers caring for their child with RTT are likely to experience degrees of stress that negatively impact on their own health and well-being. However, nothing has been published to date that specifically examined the caregiving situation in this group of mothers. Our purpose for this study was to examine the maternal, family, child, and disability characteristics that are positively associated with the mothers' good physical health and mental well-being using the SF-12 version 1. This well-validated measure has both a physical component summary (PCS) score (health and well-being) and a Mental Component Summary (MCS) score (health and well-being). The hypotheses we specifically wanted to test were that physical and mental health scores would be better with (1) higher functional ability of the child, (2) lesser severity of the child's clinical features and/or behavioral phenotype, (3) adequate (time) resources, sources of helpful social support, and low needs for multiple types of support and assistance, (4) greater family functioning and well-adjusted marriages, and (5) the services received for the child's care being provided in a family-centered way. Our previous research into osteopenia and fracture risk in this population¹² had alerted us to the likely disruption and stress caused to the child and the family by the occurrence of a fracture. Therefore, we were keen to investigate this as an additional factor relating to the clinical features of this disorder.

	METHODS

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Case Classification
The Australian Rett syndrome database was established in 1993 as a population-based registry.³⁸ Cases are identified from multiple sources including the Australian Pediatric Surveillance Unit³⁹ and the Rett Syndrome Association of Australia, a parent support group. At enrollment, questionnaires are administered to the child's clinician and family. Information from these questionnaires is used to verify case status. Verification currently requires either the presence of a pathogenic MECP2 mutation or the presence of at least 6 of the 8 necessary criteria set out by the Rett Syndrome Diagnostic Work Group,⁴⁰ provided that either criterion 5 (loss of hand skills) or 7 (stereotypic hand movements) is present. In addition, a minimum of 3 primary inclusion criteria from Hagberg's variant delineation model⁴¹ also have to be present. Categorization of cases as classical has been updated from the schema followed in previous research⁵ by application of the revised criteria, which became available in 2002.¹¹

Data Collection
Since 2000, we have administered a follow-up questionnaire every 2 years to families whose children are enrolled in the study. Principally, information is collected on the present status of the child's health and functioning as well as events related to their health and functioning that occurred in the previous 2 years. The 2002 questionnaire consisted of 2 parts. Part 1 contained 15 sections that concerned the child's medical conditions, hospital admissions, use of medical, therapy, and general disability services; the Measure of Processes of Care short form⁴²; educational services; Rett Syndrome Symptom Index⁴³; the Functional Independence Measure for Children (WeeFIM),⁴⁴ which was adapted for use in questionnaires by M.E.M., H.L., C.B., and others⁴⁵; the Rett Syndrome Behavior Questionnaire (RSBQ)⁴⁶; and hand use. Part 2 contained 9 sections that concerned the health and well-being of the family and included the SF-12 version 1 health survey,⁴⁷ Support Functions Scale (short form),⁴⁸ Family Resource Scale (time components only),⁴⁹ Abbreviated Dyadic Adjustment Scale,⁵⁰ McMaster Family Assessment Device (general functioning only),⁵¹ Depression, Anxiety, and Stress Scales,⁵² and the Family Support Scale.⁵³ Table 1 describes each of the measures used in the analysis. The first step in the development of the 2002 questionnaire was to review and act on comments made by parents of children with RTT about the first and previous follow-up questionnaire posted in 2000. The investigative team then came to consensus as to the inclusion of items from Table 1 to measure family health and well-being. A focus group meeting was then conducted, at which parents inspected the draft questionnaire and commented on its suitability and applicability. Parents confirmed that the new questionnaire asked about issues that were relevant and important to families with a child with RTT and advised us on how they thought the items could be best introduced to other families. Thirteen families from around Australia were then invited to pilot another draft. Their comments about the questionnaire and the way in which they answered items were reviewed and, where possible, applied to the final version of the questionnaire.

SF-12 Physical and Mental Health Summary Measures
The PCS and MCS measures were calculated according to the algorithm provided in the scoring manual.⁴⁷ The scores are derived through norm-based scoring methods using the 1998 US population so that the general population has a mean score of 50 and SD of 10 for both scales. All scores above or below 50 can be interpreted as above or below the general population norm.

Analysis
Univariate linear-regression analyses were conducted separately with the SF-12 version 1 PCS and MCS as the outcome variables of interest. The final multivariate models for the PCS and MCS were obtained by including all variables significant at the 10% level of significance from the univariate models in a process of backward and forward stepwise linear regression to find the most-parsimonious model. Dummy variables were created for each level of the categorical variables used in the regression analyses, with the lowest level of each categorical variable (or the one with the greatest number of observations) used as the reference. No corrections for multiple comparisons or testing were done in these analyses, because we were assessing specific previous hypotheses as we have described all analyses performed, as recommended.^56,57 The Stata 9 (Stata Corp, College Station, TX) statistical package was used for this analysis.⁵⁸

	RESULTS

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Mothers completing the questionnaire ranged in age from 21 to 60 years. Most (77.0%) were married or in a de facto relationship, and 62.3% had 1 or 2 children in addition to their child with RTT. The children with RTT were between 3 and 27 years old at the time of the 2002 follow-up questionnaire, and all were female. More than two thirds of the children were categorized as having classical RTT, and 70.4% were found to be positive for an MECP2 mutation (Table 2).

The average PCS score was 48.6 (SD: 10.1), which is slightly lower (P = .05) than the US-based norm of 50. Physical health scores did not vary according to the mother's age, marital status, number of children, type of the child's MECP2 mutation, mother's highest qualification, or the ARIA measure (Table 3). The univariate analyses found that mothers reporting they worked full-time or part-time (mean: 51.1; SD: 8.1) had much higher mean physical health scores (ie, better physical health) than those not working at all (mean: 44.3; SD: 11.0) (P = .001). Physical health was greater with each increase in income level and, similarly, with each level of reduced financial stress, although neither of them approached significance. Mothers with health insurance had better physical health than those without health insurance (P = .02). Mothers who reported that their child had neither breathing nor sleeping problems in the last 2 years were at least 4 points higher on the physical health score than those whose children had 1 or both of these problems (P = .03). Also, mothers whose child did not have structured therapy at home had higher physical health scores (P = .03). There was no significant difference in maternal physical health based on the child's current functional status in daily activities as indicated by the WeeFIM score. The final multivariate model showed that the following maternal variables were positively associated with better physical health: mothers working full-time or part-time outside the home, having some high school education, having private health insurance, and indicating adequate time resources on the Family Support Scale. Child variables positively associated with better maternal physical health included the child not having breathing problems in the past 2 years and not receiving home-based structured therapy (Table 4).

	DISCUSSION

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We were interested in understanding what may help mothers cope with their caregiving challenges by identifying factors that were positively associated with better physical and mental health. We did this by testing 5 main hypotheses. We first examined whether the children with higher functional ability had a positive association with good maternal physical or mental health. As has been shown previously, the WeeFIM does well to discriminate levels of functional ability in RTT, and scores for children in this study were found to be below the maximum possible of 126.^5,6 The level of functional independence of the children, however, was not found to be associated with the mother's physical or mental health. This finding is interesting given that these children are quite often highly dependent on their mothers for basic activities of daily living. Although RTT is associated with severe disability, it may be that some children with slightly better functional ability have behaviors that are more challenging⁶⁰ and more likely to result in a toll on their mothers' physical and mental health. This may help explain the null effect we observed. Three studies of other disabling childhood conditions also found no direct relationship between the degree of the child's functional status and the mother's health and well-being.^25,27,31 King et al²⁵ found that the child's level of functional independence (in combination with other disability parameters) had an indirect influence on parental well-being through the caregiving process; Manuel et al³¹ found that the mother's perceived social support mediated the relationship between the child's functional status and depressive symptoms; and Waddington²⁷ found that the child's physical limitations influenced the mother's mental health indirectly through the mother's role functioning.

The second hypothesis we tested was whether less-severe clinical features and/or behavioral phenotype, based on the RSBQ, were positively associated with the mother's positive health and well-being status. McDonald et al²⁶ and Raina et al²² both found that child behavior problems were inversely related to mothers' physical and mental health in children with serious emotional disorders and cerebral palsy, respectively, using the Child Behavior Checklist instrument. Unlike the Child Behavior Checklist, which measures abnormal behaviors in the traditional sense, the RSBQ, the only measure of behavior in RTT available, is heterogeneous and contains items that reflect both clinical and behavioral severity.⁶⁰ In the multivariate models of physical and mental health, we found that only the domain of facial movements remained significantly associated with maternal mental health. The facial movement's domain included the child making mouth grimaces, repetitive tongue movements, and grimacing expressions with their face. One possible explanation for this association may be that mothers are embarrassed by the behavior, which could be regarded by some as socially unacceptable, and become stressed about their child making these facial movements in public. Another is that these clinical features are markers of a more severe neurologic phenotype. Genotype-phenotype studies have shown that much of the variability in the severity of RTT is largely based on which genetic mutation the child possesses.^5–7,10,61 We also tested for associations between individual mutations and physical and mental health scores and found no significant associations. However, as has been a universal problem in studies of RTT, we do not have a large number of cases with each of the individual mutations.

There were 2 additional factors that could come under the umbrella of clinical severity that were associated with maternal health. First, we found that physical health scores were higher among mothers whose child did not have a breathing problem in the past 2 years. Breath-holding, hyperventilation, and irregular breathing are all manifestations of the autonomic dysfunction that can occur in RTT, but they generally occur only while the child is awake.^62,63 It is likely that there is an association between the extent of the autonomic dysfunction and clinical severity. Thus, these results would be in keeping with our hypothesis that the mother's physical health is better when the clinical severity is milder. The second factor we found was that mental health was better among mothers whose child did not have a fracture in the past 2 years. Children with RTT are more susceptible to fractures because of their reduced bone strength. In a previous report, fractures had occurred in more than one third of subjects, and bone strength, based on cortical thickness, was shown to decrease with increasing age and the use of anticonvulsants.¹² The occurrence of a fracture in their child, particularly a hip fracture (the most common site reported¹²), is likely to result in major disruption for the household. More than one quarter of those subjects who had 1 fracture went on to have other fractures. At the time of the fracture there is likely to be additional stress on the family and, subsequently, ongoing concern about the chance of recurrence. Therefore, perhaps its association with maternal mental health is not surprising.

An interesting result we found was the positive association between maternal physical health and the child not having home-based structured therapy. It is not clear why this association is so strong. Examples of the structured therapies reported by mothers mostly consisted of stretching exercises, walking practice, and positioning exercises. Neither a low WeeFIM score, an indicator of the child's poorer functional status, nor the child being younger (which was associated with the use of home-based structural therapy) was shown to have a relationship with the mother's physical health. We were unable, therefore, to identify any factor that may have confounded the relationship between home-based structured therapy and the mother's physical health. This finding may warrant further investigation at some stage in the future.

According to social-systems theory, family needs and aspirations, family strengths and capabilities, social support, and resources are separate but interdependent components that influence family functioning.⁴⁸ Dunst and Leet⁴⁹ contend that inadequate personal and family resources negatively affect well-being and health. Our third hypothesis was that adequate (time) resources, helpful sources of social support, and a low need for different types of assistance would be positively associated with the mother's physical health and mental well-being. We found that having adequate time resources was the only one of these factors significantly associated with positive physical health in our multivariate model. These measures were not nearly as strong as indicators of physical or mental health in our study as they have been in other studies. Dunst et al²⁸ reported that the more supportive the social networks, the better was the parents' personal well-being. Similarly, Barakat and Linney⁶⁴ found that social support was related to higher maternal psychological adjustment.

Fourth, we looked at whether better family functioning and a well-adjusted marriage were positively associated with either physical or mental health. We found that the mental health of mothers was positively associated with better family functioning, although we found no association with physical health. King et al²⁵ found that family functioning was a significant predictor of parental well-being, such that families who were doing well feel less stressed or depressed. A recent study by Raina et al²² also supports our finding with mental health, but unlike our study they also found that physical health improved with greater family functioning. Although we found no association between marital adjustment and the mother's physical health, we found that positive marital adjustment was associated with significantly better maternal mental well-being. Friedrich³⁵ also found that marital satisfaction was a significant predictor of coping behavior in mothers of handicapped children and explained that feeling secure in their marriage increased their feelings of capability of coping with their child's needs.

Our fifth hypothesis examined whether the mothers who rated their satisfaction with their child's care as high (indicating that services were delivered in a family-centered way) had better physical or mental health scores. Rosenbaum et al⁶⁵ have pointed out that many interventions for children with chronic health problems or developmental disabilities were typically child centered, with doctors and therapists setting goals that focus on bringing about change in the child. Support for the family systems theory, which emphasizes the interactions of various members of the family and the impact of each member on the others, has led to the view that interventions can affect children indirectly by influencing other components of the family system.⁶⁵ This has resulted in a dynamic family-centered approach to service delivery for children with disability. The foundation of this approach is that parental and family input, not just what professionals dictate, is essential for optimizing child and family outcome. King et al²⁵ found that with a greater level of family-centered caregiving, the more likely there would be more satisfaction with services, less parental stress, and better parental emotional well-being. However, unlike King et al, we found no association between the processes of care and the mother's health outcomes. On the basis of comments from mothers, it was difficult to rate overall care with this measure because they felt there were differences if the services were related to medical versus therapy care. In future follow-up questionnaires we plan to ask about family-centered caregiving separately for medical and therapy services.

Overall, our results indicate that in addition to medical, rehabilitation, and educational services for children with RTT, maternal caregivers require ongoing caregiving assistance, supports to maintain other roles, especially part-time or full-time work outside the home, financial support, quality respite to enhance emotional well-being and buffer the stress of ongoing dependency, and interpersonal and marital supports.

We should make it clear that in this study we were only able to investigate associations and unable to specify the directionality of those associations that were significant. We also do not know the physical and mental health states of mothers before the birth and neurologic regression of their child with RTT. We cannot say if it is the mothers with good mental health that are better able to work outside of the home or if it is the act of working outside the home that improves mental health. This was also a preliminary study designed only to investigate linear relationships. Future research could use structural equation modeling to investigate both direct and indirect relationships in health.

The major strength of our study is that we have a population-based cohort of families with a child with RTT and a high response to follow-up questionnaires that measure both physical and mental health. We also explicitly measured a wide range of child characteristics, family functioning, and social supports. Raina et al stated, "Clearly, it is important for health care providers to assess how caregivers are affected by behavioural as well as ‘functional’ aspects of the child's disability in the provision of comprehensive family-oriented services. In terms of prevention, providing parents with cognitive and behavioural strategies to manage their child's behaviours may have the potential to change caregiver health outcomes."²² Our data support this even among children with severe disability. We suggest that it is the practical day-to-day needs of families for feeding, sleep, behavior challenges, and community participation that are key factors affecting maternal health and well-being. RTT is associated with severe disability in that most children and young adults are highly dependent for self-care, mobility, and communication/social cognition. It is likely that those of our findings that are not RTT specific in their nature could still be generalized to families of children with other severe intellectual and physical disability but perhaps not to families of children with mild disability.

We believe that our data support a similar conclusion to that found by Rania et al²²: the most important predictors of a mother's physical and emotional health are child behavior, caregiver demands, and family function. We have a number of dimensions in common, including socioeconomic status, functional ability, child behavior, caregiving demands, perception of formal care, coping factors of social support, and family functioning. Prioritizing interventions to address these management needs would impact on the current functioning of the child with RTT and would also impact on caregiver health and well-being. In addition, attention to the policy implications of our project will be important to examine, including strategies that optimize basic caregiver needs (physical, emotional, supports) and how increased attention to family-centered practices in health, genetic, education, and disability services optimizes child functioning and caregiver health and well-being.

	ACKNOWLEDGMENTS

 
We acknowledge the National Institute of Child Health and Human Development for its current funding of the Australian Rett syndrome database under National Institutes of Health grant 1 R01 HD43100-01 A1.

We are grateful to all the families who participated in the study, the Australian Pediatric Surveillance Unit, and the Rett Syndrome Association of Australia, who facilitated case ascertainment in Australia.

	FOOTNOTES

 
Accepted May 23, 2006.

Address correspondence to Crystal L. Laurvick, MPH, Telethon Institute for Child Health Research, PO Box 855, West Perth, Western Australia 6872, Australia. E-mail: crystall{at}ichr.uwa.edu.au

The authors have indicated they have no financial relationships relevant to this article to disclose.

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