Modeling family adaptation to fragile X syndrome.

AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES 2014, Vol. 119, No. 1, 33–48

EAAIDD DOI: 10.1352/1944-7558-119.1.33

Modeling Family Adaptation to Fragile X Syndrome Melissa Raspa, Donald B. Bailey, Jr., Carla Bann, and Ellen Bishop

Abstract Using data from a survey of 1,099 families who have a child with Fragile X syndrome, we examined adaptation across 7 dimensions of family life: parenting knowledge, social support, social life, financial impact, well-being, quality of life, and overall impact. Results illustrate that although families report a high quality of life, they struggle with areas such as social support, social life, and parenting knowledge. Path analysis revealed that child and family factors play a role in adaptation, but family resources and social supports moderated their effect on quality of life, well-being, and overall impact. The interrelationship among multiple aspects of family life should be examined to improve family resiliency. Key Words: Fragile X syndrome; quality of life; social support; well-being

Family adaptation is the process by which parents and other family members adjust, accommodate, or transform their roles and responsibilities to better meet current demands. All families must change and adapt over time, but this is especially true for families who have a child with a disability. For these families, adaptation begins with the diagnosis of a delay or disability and continues through their child’s life (Bailey, 2007; Ferguson, 2002; Helff & Glidden, 1998; Krauss & Seltzer, 2007; Poehlmann, Clements, Abbeduto, & Farsad, 2005). Adaptation is a complex process and involves changes on multiple levels. Ultimately, positive adaptation is needed to ensure good outcomes for both children and families (Bailey et al., 1998; Bailey et al., 2006). Research examining disability-specific family adaptation has shown varying results depending on the child’s diagnosis (Abbeduto et al., 2004; Lewis et al., 2006; Poehlmann et al., 2005). Several unique characteristics of Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, suggest that it is an especially important condition in which to study family adaptation. FXS is passed on to children through carrier parents, and because children often are not diagnosed until 36 months of age, M. Raspa et al.

approximately 25% of families have more than one affected child (Bailey, Raspa, Bishop, & Holiday, 2009). FXS can affect extended-family members, and the diagnosis may have an impact on family cohesion and dynamics (Bailey, Skinner, & Sparkman, 2003). Individuals with the full mutation often have developmental delays, attention problems, hyperactivity, autism, and behavior problems, although there is wide variation in the FXS phenotype (Bailey, Raspa, Olmsted, & Holiday, 2008; Hall, Burns, Lightbody, & Reiss, 2008; Loesch et al., 2007; Smith, Barker, Seltzer, Abbeduto, & Greenburg, 2012; Sullivan et al., 2006). Individuals who are premutation carriers of FXS may experience cognitive or emotional challenges, although less severely (Bailey, Raspa, et al., 2008; Hunter, Sherman, Grigsby, Kogan, & Cornish, 2012). Carriers are also at risk for primary ovarian insufficiency and fragile X– associated tremor/ataxia syndrome (Hagerman & Hagerman, 2004; Johnston et al., 2001; Sherman, 2000).

Family Adaptation to FXS Mothers of children with FXS typically have been the focus of much of the research on family 33


adaptation. Mothers with the premutation often display elevated levels of stress (Hartley et al., 2012; Johnston et al., 2003; McCarthy, Cuskelly, van Kraayenoord, & Cohen, 2006), and rates of depression have been reported from 16% to 78%, which is higher than the rate in the general population (Bailey, Golden, Roberts, & Ford, 2007; Bailey, Sideris, Roberts, & Hatton, 2008; Hall, Burns, & Reiss, 2007; Hessl et al., 2005; Johnston et al., 2001; Lachiewicz, Dawson, Spiridigliozzi, Lachiewicz, & McConkie-Rosell, 2010; Wheeler, Hatton, Reichardt, & Bailey, 2007). Other negative outcomes have been shown to be associated with raising a child with FXS, such as an increased likelihood of having a mood or panic disorder or high levels of anxiety (Bourgeois et al., 2011; Roberts et al., 2009; Seltzer et al., 2011). A multidimensional analysis of maternal adaptation to FXS found that half of mothers scored in the clinically significant range on at least one measure of stress, anxiety, depression, or anger (Bailey, Sideris, et al., 2008). To counterbalance the negative outcomes, other studies have examined positive family adaptation. One study found that perceived quality of life of mothers who had a child with FXS was, on average, the same as in the general population (Wheeler, Skinner, & Bailey, 2008). These women reported being a mother as the highest rated area of life, with general feelings of hopefulness as one of the strongest predictors of quality of life. Other studies have suggested that many mothers have high levels of overall life satisfaction (Lewis et al., 2006), social support (McCarthy et al., 2006), and hope and optimism (Bailey, Sideris, et al., 2008). Mothers have also reported high levels of problem-focused coping (Lewis et al., 2006), and many have adjusted their coping style over time based on their child’s development (Poehlmann et al., 2005). Child and family factors often play a key role in family adaptation to FXS. Child behavior has consistently been related to parenting stress, depression, and quality of life (Bailey, Sideris, et al, 2008; Johnston et al., 2003; McCarthy et al., 2006). Children codiagnosed with both FXS and autism often have parents with more negative adaptation (Abbeduto et al., 2004; Lewis et al., 2006). Family cohesion and the quality of the marital relationship are related to parenting stress (Johnston et al., 2003; McCarthy et al., 2006). Low levels of stress and high levels of hope have been shown to have a protective role in predicting 34

EAAIDD DOI: 10.1352/1944-7558-119.1.33

a mother’s overall perceived quality of life (Wheeler et al., 2008).

Modeling Family Adaptation Despite the considerable research in this area, few studies have attempted to examine how unique characteristics of FXS are associated with family adaptation. Most studies examine a single outcome and fail to model how the many factors that contribute to family adaptation are associated with each other, even though examples of such an approach are evident with other forms of disability. For example, Nachshen and Minnes (2005) examined factors that contribute to families’ sense of empowerment using the Double ABCX model (McCubbin & McCubbin, 1996) and reported that child behavior problems, parent well-being, and formal and informal resources were strongly associated with empowerment. A recent study of mothers who have a child with an autism spectrum disorder found that higher levels of social support were related to increased optimism, which in turn predicted higher positive outcomes, such as life satisfaction, and lower negative outcomes, such as stress and depression (Ekas, Lickenbrock, & Whitman, 2010). Other work has shown a relationship between family-centered practices and parenting efficacy and well-being (King, King, Rosenbaum, & Goffin, 1999; Trivette, Dunst, & Hamby, 2010). Families with more social support have also tended to have higher levels of satisfaction and better emotional health (Resch, Benz, & Elliott, 2012) and to report a positive impact of disability on the family (Bailey, Nelson, Hebbeler, & Spiker, 2007; Summers et al., 2007).

Research Questions and Hypotheses The purpose of this article is to draw on data from a large sample of families to address gaps in the current knowledge of family adaptation to FXS. Previous research has been limited to small sample sizes and has frequently focused on one aspect of adaptation. In addition, despite research on models of adaptation related to intellectual disability in general, there is a lack of understanding about how positive and negative adaption are related in families who have a child with FXS. This study addresses two broad research questions: 1. What is the nature of both positive and negative family adaptation to FXS?

Family Adaptation and Fragile X Syndrome


1. Using more than 1,000 families who had a child with the full mutation or premutation of FXS, we sought to characterize and quantify multiple areas of adaptation, many of which have not been previously reported: parenting knowledge, social support, respondent wellbeing, family social life, financial impact, family quality of life, and overall family impact. 2. How do factors unique to FXS play a role in family adaptation to FXS, and are these part of an overall conceptual model of adaptation? 2. This study examined factors that are unique to families who have a child with FXS, such as family composition (i.e., number and FXS status of affected children). We also examined not only mothers’ ratings of adaptation but fathers’ as well. Using prior research on family adjustment to disability as a guide, we examined the relationships between these factors, potential mediating variables, and family outcomes; these relationships are depicted in the conceptual model in Figure 1. We hypothesized that better child and family factors, such as fewer total cooccurring conditions across all children in the family or higher income, would be positively related to higher levels of parenting knowledge, better social life and more social support, and less financial impact of FXS. These variables, in turn, would mediate the relationship of potential child and family risk factors on family quality of life, respondent well-being, and overall impact of FXS.

Collectively, these data should provide an expanded picture of multiple aspects of family adaptation to FXS. Further, the findings will shed light on possible resiliency factors that may

EAAIDD DOI: 10.1352/1944-7558-119.1.33

explain why some families report better overall outcomes than others.

Methods Participants This study was part of a large national survey which investigated the needs of families who have at least one child with the full mutation or premutation of FXS (Bailey, Raspa, & Olmsted, 2010). The study was divided into two stages. First, families were recruited in partnership with three national foundations (National Fragile X Foundation, FRAXA Research Foundation, and Conquer Fragile X Foundation), researchers, and clinicians. Approximately six months later, families completed a more detailed survey. A total of 1,250 families enrolled, and 1,124 families (90%) responded to the survey. This article focuses on a subset of 1,099 families who had at least one child with the full mutation or premutation of FXS and who responded to items related to family impact. The majority of the respondents were white (92%); others were Hispanic (5%), African American (2%), or other races or ethnicities (1%). Fortytwo percent of respondents had an education

Figure 1. Conceptual model of family adaptation to FXS. M. Raspa et al.

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EAAIDD DOI: 10.1352/1944-7558-119.1.33


corresponding to a 2-year college degree or less, 33% had a 4-year degree, and 25% held a graduate or professional degree. Approximately one quarter of families (23%) had an annual income of $50,000 or less, 41% had an annual income of $50,001 to $100,000, and 36% had an annual income of more than $100,000. Many of the respondents were mothers (89%), married (84%), and employed (62%). The mean age of respondents was 46.8 years (SD 5 11.2). The families had a total of 2,672 children (1,674 males, 998 females); 1,394 children had the full mutation (1,090 males, 304 females) and 235 were premutation carriers (55 males, 180 females). The remaining 1,043 children (529 males, 514 females) did not have FXS or had never been tested. The average total number of children per family was 2.39 (SD 5 1.13), with an average of 0.21 (SD 5 0.56) children with the premutation and 1.24 (SD 5 0.66) children with the full mutation. The average age of all children was 18.1 years (SD 5 12.6, range 5 ,1–65 years). Although many families had children who were grown adults, we use the term ‘‘child’’ throughout the remainder of the article despite their age.

Instruments and Procedures Prior to data collection, the enrollment and survey items were reviewed and approved by our Institutional Review Board. Participants were asked to read a consent form and acknowledge that they agreed to participate in the survey. Families had the option of completing enrollment and the survey either online (76%) or on the telephone with a trained interviewer. During the enrollment phase, each family provided demographic information as well as information about each child in their family, such as date of birth, gender, and genetic status. Families were asked to report on a variety of characteristics for each child, such as types of co-occurring conditions (attention problems, hyperactivity, aggression, self-injury, autism, seizures, anxiety, depression, developmental delay). Within 6 months of enrolling, families completed the full survey. Respondents were asked to answer items related to the effects of FXS on seven areas of family life: parenting knowledge, social support, respondent well-being, family social life, financial impact, overall impact of FXS, and quality of life. The parenting knowledge items asked about parents’ knowledge, 36

including areas such as the genetics and heritability of FXS, where to find services, how to help their child develop and learn, and their rights related to having a child with a disability. The three social support items asked about the availability of someone to talk to and rely on for help and about whether parents knew another family who had a child with FXS. For respondent well-being, we asked four items that dealt with stress and coping and two related to depression. The life items covered topics such as the family’s ability to go out to eat, take a vacation, or get together with friends. Financial impact, quality of life, and overall impact of FXS were each individual items. All the family adaptation items were rated on a 4-point scale, although the descriptors varied across the different constructs (e.g., parenting knowledge items used a little, some, a good amount, and a great deal, whereas respondent well-being items used strongly disagree, disagree, agree, and strongly agree—please refer to the tables in the Results section for specific scoring options). Many, but not all, of these items were taken from existing measures; thus some of the items were exploratory in nature. Prior to data collection, all items were tested with a small group of families who had a child with FXS to determine if changes needed to be made to wording or response options.

Data Analysis Two sets of analyses were conducted to correspond with each research question. First, using the Statistical Analysis System (SAS, Version 9.1.3), percentages were calculated to provide descriptive data on family adaptation. To account for missing data at the item level, percentages are based on the numbers of families who responded to each question. Next, to test a conceptual model of family adaptation to FXS, we performed a series of analyses. In order to create the variable to be included in the model, we conducted a confirmatory factor analysis (CFA) and item response theory (IRT) analysis to determine if the individual survey items could be collapsed into separate constructs. For the CFA, a good model fit would be indicated if the comparative fit index (CFI) and Tucker–Lewis Index (TLI) had values of .90 or higher and the standardized root-mean-square residual (SRMR) had a value of 0.08 or less. In addition, factor loadings for each item should have values of 0.40 or higher. For the IRT Family Adaptation and Fragile X Syndrome

EAAIDD DOI: 10.1352/1944-7558-119.1.33


analysis, all items should have slopes of 1 or greater. These analyses resulted in seven constructs which were used in subsequent analyses. Next, Cronbach’s a was calculated as a measure of internal consistency, and interitem correlations were examined to determine the relationship among the constructs. As a final step, a path analysis was conducted using Mplus (Mutheń & Mutheń, 1998–2010) to better understand how child and family variables were associated with family adaptation. For this analysis, we wanted to examine adaptation for different types of families who had a child or children with FXS, with the hypothesis that families with more favorable child (e.g., fewer co-occurring conditions) and family (e.g., higher income) factors would have better adaptation. Therefore, we grouped families into one of four categories based on the gender and fragile X status of their children (i.e., family type): (a) families who only had children with the premutation (7%), (b) families who had at least one daughter with the full mutation and no sons with the full mutation (may also have had children with the premutation; 10%), (c) families who had one son with the full mutation (may also have had a daughter with the full mutation and/or children with the premutation; 69%), and (d) families who had two or more sons with the full mutation (may also have had a daughter with the full mutation and/or children with the premutation; 13%). These groups were mutually exclusive and captured the range of different family types in our sample. The path analysis model contained six predictor variables: (a) family type, (b) respondent gender, (c) respondent education (some college or less, 2-year degree or more), (d) family income ($75,000 or less, more than $75,000), (e) age of oldest affected child, and (f) total number of cooccurring conditions across all affected children.

The following criteria were used to determine if the model fit the data (Bentler, 1990; Browne & Cudeck, 1993; Hu & Bentler, 1999): a value of 0.95 or greater on the TLI and CFI and a rootmean-square error of approximation (RMSEA) of 0.06 or lower.

Results Descriptive Statistics Parenting knowledge. Families were asked a series of six questions about their knowledge of FXS as well as how much they knew about helping their child and locating services (Table 1). The majority of respondents knew a good amount or a great deal about the genetics (86%) and heritability (88%) of FXS. Seventy-four percent of families responded that they knew about how to help their child develop and learn new skills, but only 60% indicated they knew a good amount or a great deal about how to help their child behave the way they would like. Fewer families knew about services that were available for their child and about the rights of families who have a child with FXS; 60% said they knew about services, whereas 44% knew about their rights. Social support. Families responded to four questions about informal social support from friends and about knowledge of other families who have a child with FXS. A majority of families usually (27%) or almost always (40%) had someone to talk to or someone to rely on for help when needed (28% usually and 32% almost always). However, more than one third of families responded that they had lower levels of social support. Just over one quarter of families (27%) did not know another family who had a child with FXS; another 29% knew one or two families, 27% knew three to 10 families, and 17% knew more than 10 families. Of those that did, 41% indicated

Table 1 Ratings of Parenting Knowledge by Families With a Child With FXS (%) Genetics of FXS Heritability of FXS How to help child learn new skills How to help child behave Services Rights

M. Raspa et al.

A little

Some

A good amount

A great deal

3 3 6 11 13 25

12 9 20 29 27 31

49 43 46 41 38 27

37 45 28 19 22 17

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that it took more than 1 year after their child was diagnosed for them to meet another family with a child with FXS. Respondent well-being. Respondents were asked questions about their levels of stress, history of depression, and ability to handle problems and cope (Table 2). Almost all respondents agreed or strongly agreed they were able to handle problems in their life (94%). However, 41% replied that they had a hard time coping with all the things they have to do. Most respondents agreed that they were able to find time to relax (67%) and do the things they enjoy (75%). Nearly three quarters, however, said that caring for their child with FXS puts a strain on them. Approximately 36% of respondents had been diagnosed or treated with depression; of those who had, 57% were currently being treated. Forty-one percent of respondents had been treated once, 18% twice, and 41% more than twice. Family social life. Table 3 summarizes responses to five questions about family social life. About half of all families indicated that having a child with FXS has somewhat or very much affected their ability to take a vacation (53%), go to church or other religious activities (45%), eat out at a restaurant (45%), go shopping (49%), or get together with friends (46%). When asked how often their family is able to do the things they enjoy together, 27% responded almost always, with another 30% indicating usually, 29% sometimes, and 14% seldom. Impact and quality of life. Respondents were asked about the impact of having a child with FXS on different areas of family life. Approximately 27% of families responded that having a child with FXS has not caused any financial burdens; however, 26% reported a little, 30% somewhat, and 17% a great deal of financial burden. In thinking about the overall impact of FXS on their family, 18% of respondent said it was mostly positive, 35% said somewhat positive, 33% said somewhat negative,

and 14% said mostly negative. The majority of families (78%) reported that their overall life situation was either good or very good, with 19% indicating it was fair, and 3% poor.

Development of Constructs Using the individual survey items, we created constructs that could be used in the subsequent path analysis. Results of the CFA and IRT analyses are presented in Table 4. The parenting knowledge factor (CFI 5 0.96, TLI 5 0.92, SRMR 5 0.03, Cronbach’s a 5 0.84) showed strong internal consistency. All six items were retained for this construct, with a summary score across all items calculated for future analyses (M 5 17.0, SD 5 4.2, range 5 2–24). For the social support factor, we were unable to run the CFA due to the small number of items. We examined the interitem correlations and IRT slopes, which were strong for two of the three items. Internal consistency statistics support the correlations; Cronbach’s a was 0.55 with all three items and 0.78 for two items (‘‘How many families do you know that have a child with FXS, not including your relatives?’’ was not included). Therefore, only the two social support items, added together, were included in subsequent analyses (M 5 5.7, SD 5 1.9, range 5 1–8). The well-being factor exhibited good psychometric properties (CFI 5 0.98, TLI 5 0.94, SRMR 5 0.02, Cronbach’s a 5 0.71). A summary score was created for the four items (M 5 13.6, SD 5 2.9, range 5 1–20). The social life factor (CFI 5 0.98, TLI 5 0.97, SRMR 5 0.02, Cronbach’s a 5 0.89) also showed strong internal consistency. All six items loaded onto the factor, and therefore a summary score was created for this construct as well (M 5 15.5, SD 5 5.5, range 5 2–24). The remaining three constructs— financial impact (low impact 5 54%, high impact 5 46%), quality of life (low quality of life 5 22%, high quality of life 5 78%), and overall impact (positive impact 5 53%, negative impact 5

Table 2 Ratings of Respondent Well-Being (%) I am able to handle problems I have a hard time coping I can find time to relax My child with FXS puts a strain on me I am able to do things I enjoy

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Strongly disagree

Disagree

Agree

Strongly agree

1 14 7 9 5

5 44 25 19 19

61 32 52 53 58

33 9 15 20 17


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Table 3 Ratings of Whether Having a Child with FXS Has Affected Family Social Life (%) Take a vacation Attend church or other religious activities Eat out at a restaurant Go shopping Get together with friends

Not at all

A little

Somewhat

Very much

26 38 34 26 29

20 16 22 24 24

26 18 25 26 28

27 27 20 23 18

47%)—were single items from the survey and therefore were used as dichotomous variables in subsequent analyses. All constructs were coded such that a higher number indicated more of the characteristic; therefore, certain variables needed to be reverse scored. For example, a higher score on the parenting knowledge variable indicates more knowledge (positive outcome), but a higher score on the financial impact variables indicates more of an impact (negative outcome).

A correlation matrix (Table 5) was calculated to measure the association among the seven dimensions of positive and negative adaptation. Almost all of the Pearson correlation coefficients for the positive outcome variables are statistically significant, ranging from .16 to .47. All but one of the positive outcome variables (parenting knowledge) were statistically interrelated at p , .001 and inversely related to the negative outcome variable (financial impact). Social support, respondent

Table 4 Psychometric Properties of Survey Items Scale/item Parenting knowledge Genetics of FXS Heritability of FXS How to help child learn new skills How to help child behave Services Rights

Item-total correlation

Factor loading

Slope

.52 .52 .68 .65 .69 .68

.45 .44 .75 .75 .83 .79

1.22 1.21 2.61 2.44 3.04 2.72

.52 .49 .12

— — —

3.28 2.71 0.27

.44 .60 .47 .42

.55 .80 .53 .58

1.55 3.30 1.31 1.44

.71 .68 .79 .77 .75

.74 .72 .86 .85 .78

2.35 2.22 3.99 3.56 2.68

Social support Have someone to listen and talk with me Have someone to rely on for help Know another family with FXS child Well-being I am able to handle problems I have a hard time coping I can find time to relax My child with FXS puts a strain on me Social life Take a vacation Attend church or other religious activities Eat out at a restaurant Go shopping Get together with friends

M. Raspa et al.

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40

1.00

well-being, and quality of life were correlated with each of the other measures of adaptation.

1.00 .35*** .22*** .22*** .34*** 2.18

1.00 .47*** .31*** .43*** 2.34***

1.00 .24*** .34*** 2.32***

1.00 .24*** 2.19***

1.00 2.22***

Path Analysis Results

***p , .001.

1.00 .29*** .16*** .06 .09 .16*** 2.01 Parenting knowledge Social support Well-being Social life Family impact Quality of life Financial impact

Financial impact Social life Well-being Social support Parenting knowledge

Positive adaptation

Table 5 Correlations Among the Positive and Negative Family Adaptation Measures

Family impact

Quality of life

Negative adaptation


This analysis examined whether the child and family variables predict aspects of positive and negative adaptation, which in turn predict the impact of FXS on the family, family quality of life, and respondent well-being. We tested the model, including all possible paths between the demographic variables, the mediators (parenting knowledge, social life, social support, and financial impact), and the outcomes. The model fit well (CFI 5 0.98, TLI 5 0.95, RMSEA 5 0.02). The results of the path analysis, including the reference groups for the predictor variables, are presented in Figure 2. Child and family factors. Families with more education reported greater parenting knowledge. Male respondents and families with only children with the premutation or at least one daughter with the full mutation (compared to one son with the full mutation) reported less parenting knowledge. Families who had only daughters with the full mutation or more than one son with the full mutation, older children, and children with fewer co-occurring conditions reported better social lives. Having children with more co-occurring conditions was associated with less social support. Finally, families with only children with the premutation, those with more education, and those whose children had more co-occurring conditions experienced greater financial impact, whereas families with older children and higher incomes reported less of an impact. Relationship among mediators. There is a positive relationship between parenting knowledge, family social life, and social support. Families with better social lives and more social support had greater parenting knowledge. There is a negative relationship between family social life, social support, and financial impact: Families with better social lives and more social support had less of a financial impact. Outcomes. Families with more parenting knowledge, better social lives, more social support, and less financial impact reported a higher quality of life and better respondent well-being. Those with worse social lives, less social support, and greater financial impact reported a negative overall impact of FXS on the family. Family Adaptation and Fragile X Syndrome


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Figure 2. Path analysis of quality of life, well-being, and impact among families of children with FXS.

Discussion Previous research on family adaptation to FXS has been limited in scope and depth. Moreover, no research to date has examined family factors unique to FXS, such as number and type of children affected, and how they affect adaptation. This study expands previous research on family adaptation to FXS by using a large sample, examining a range of constructs not previously reported (e.g., parenting knowledge, knowledge of other families with FXS), and including family variables that better typify the ramifications of having a child or children with FXS. In the following, we summarize the main findings and how they contribute to research on family adaptation or substantiate previous work. Next, we examine the ramifications of the results of the path analysis and identify potential resiliency factors that may lessen the impact of FXS on family life. Finally, limitations of the study and future research are discussed. M. Raspa et al.

Summary of Main Findings As expected, many families reported high levels of positive adaptation. Most families reported high levels of parenting knowledge, including knowledge about the genetics and heritability of FXS. A high percentage also knew about how to help their child develop and learn. More challenging areas for families included knowing how to help their child behave, knowing where to find needed services for their child, and knowing their rights. These results are comparable to a study of families in early intervention that showed that many struggled with these same issues (Raspa et al., 2010). Several child and family factors played a role in predicting parenting knowledge. Families with higher education, higher incomes, or children with more co-occurring conditions reported higher knowledge scores, whereas families who had only children with the premutation or a daughter with the full mutation, as well as male respondents, reported lower levels. These findings 41


suggest that families who have children that are more affected or those with more access to resources tend to have better knowledge of FXS and the services that are available. Social support, in general, was also strong for most families, with 67% often having someone to talk to or rely on for help. However, just over one quarter of families did not know other families who have a child with FXS, and of those who did, 41% said it took more than 1 year after diagnosis to connect with them. Previous research on parent-to-parent support has shown that knowing other families who are experiencing similar issues may have a buffering effect by providing social and emotional support (Kerr & McIntosh, 2000). In addition, 78% of families reported a good or very good quality of life. Previous reports have indicated that two thirds of families of young children with disabilities rated their overall quality of life as good or excellent (Bailey et al., 2005). A study of quality of life in mothers who have a child with FXS found that 30% indicated an overall high quality of life, with an additional 50% scoring in the average range (Wheeler et al., 2008). Another study reported 76% of mothers of children with FXS to have average or high quality of life (Bailey, Sideris, et al., 2008). One of the signs of negative adaptation was the finding that 41% of parents had a hard time coping with the multiple demands of raising a child with FXS and that an overwhelming 73% said caring for a child with FXS puts a strain on them. About one third of respondents had been treated for depression; of those, more than half were currently being treated. Respondent wellbeing was impacted by all the mediating variables, with social life being the strongest predictor. These data corroborate earlier results (Bailey, Sideris, et al., 2008; Hartley et al., 2012; Roberts et al., 2009) and are a sober reminder that caring for an individual with FXS is difficult. About half of families indicated that having a child with FXS affected their ability to do things together, including take a vacation, attend religious activities, eat out, go shopping, or get together with friends. This was especially true for families who had younger children or children who were more severely affected. Although families reported having informal support from their relatives and friends, it appears that family participation in everyday routines is a key factor in family adaptation. Related work has also suggested the significance of families’ participation in everyday 42

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activities and becoming fully integrated into the community (Dunst, Hamby, Trivette, Raab, & Bruder, 2000; McWilliam, 2000). Recent studies have shown that parents of children with disabilities who feel isolated or excluded from their community have more negative adaptation (Green, 2003; Resch et al., 2010). A striking finding was that 47% of families reported that FXS has had a negative overall impact on their lives. Overall impact has not previously been reported in the literature, and despite its high correlation with family quality of life, it appears to be measuring a new aspect of family adaptation. One possible explanation of this result is that families interpreted family impact to include not only their family but extended family as well. Because FXS is an inherited disorder, it can affect multiple generations, which can have an impact on family cohesion and dynamics (Bailey et al., 2003). Similarly, families could be thinking of the impact of FXS on their children’s lives, either the reenvisioning of the future for their children with the full mutation (Bailey et al., 2003) or the consequences of premutation carrier status on future family planning (McConkie-Rosell, Heise, & Spiridigliozzi, 2012).

Implications of Findings Results from the path analysis revealed that certain child and family factors could place a family at risk for negative adaptation. Families whose children were more severely affected had worse social lives and less social support and experienced greater financial impact. Previous work has shown that child behavior is one of the most significant predictors of family adaptation (Abbeduto et al., 2004; Bailey, Sideris, et al., 2008; Johnston et al., 2003; McCarthy et al, 2006; Wheeler et al., 2008). Although child behavior was not included in our analyses, our finding that more co-occurring conditions were related to negative adaptation echoes the fact that the severity of a child’s condition is an important predictor of family outcomes. A unique feature of this study was that it included families who have children across a broad age range; the youngest child was under 1 year old and the oldest child was 65. This proved to be a challenge in terms of analysis but afforded us a life-span perspective in understanding family adaption. For example, we had to Family Adaptation and Fragile X Syndrome


decide how to account for child age in the path analysis when there were multiple children in the family. To ease interpretation, we used the age of the oldest child in the family as a predictor because there was not a simple way to categorize families if the ages of all children were used. Not surprisingly, families who have younger children reported worse adaptation. Families who have younger children who have been newly diagnosed may be coping with the identification of more than one child with the premutation or full mutation, or may simply be struggling with the demands of raising young children in general. Families with older children may report better outcomes due to more experience with FXS or have children who are no longer living at home, which may afford more opportunities for improved social lives or well-being. Little is known about how the age of a child affects parental measures of well-being, because most studies focus on child behavior or family demographics. These findings highlight the need to further examine family adaptation cross-sectionally across a broad age range of children as well as gain a better understanding of how family adaptation changes over time. Family factors, especially those unique to FXS, also play a role in adaptation. Surprisingly, families who only had children with the premutation or daughters with the full mutation reported lower levels of parenting knowledge. This finding merits further exploration, as it parallels other recent research on the extent to which individuals with the premutation are affected (Bailey, Raspa, et al., 2008; Hunter et al., 2012) and raises questions about the potential challenges faced by families with daughters despite their being more mildly affected (Loesch, Huggins, & Hagerman, 2004). Expected findings were that families with only daughters with the full mutation had better social lives, male respondents reported lower parenting knowledge, and families who had lower incomes or less education had less parenting knowledge and experienced more of a financial impact. We also sought to further understand differences in family adaptation between mothers and fathers, given the preponderance of research on mothers of children with FXS. Of the variables examined, however, only one exhibited statistically significant results: Fathers reported lower levels of parenting knowledge than mothers. Although this finding is important, our analyses M. Raspa et al.

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did not use parent gender as a predictor of all measures of family adaptation. For example, we did not examine whether parents reported differences on other respondent-level variables, such as well-being. No differences were found for the other family-level variables, including family social life, social support, and financial impact. Another aspect that was not explored in the current study was the relationship between carrier status and family adaptation. Further examination of this and other family variables unique to FXS is important. Similar to data obtained by others (Resch et al., 2012), our data support the notion that child and family characteristics, although critical to consider as risk factors, may not ultimately determine family outcomes but instead are mediated by other measures of adaptation. Results from the path analysis revealed that the social support and social life variables had the strongest effect on quality of life, overall impact of FXS, and respondent well-being. Previous research has shown that social support plays a significant role in family adaptation (Hauser-Cram, Warfield, Shonkoff, & Krauss, 2001; Thompson et al., 1997; Trivette et al., 2010). Families who have strong informal support networks tend to have more positive outcomes (Ekas et al., 2010). More formal support from therapists or other professionals also increases parental well-being (Trivette et al., 2010). These findings suggest that providing families with opportunities to connect with others who have a child with a disability or with formal services and supports in their community may make them more resilient to negative adaptation. Parenting knowledge related to all three outcomes but was most strongly predictive of quality of life and respondent well-being. Hastings and Brown (2002), likewise, found that parenting knowledge served to mediate the relationship between the severity of a child’s disability and parent well-being. Others have found a link between parental knowledge of child development and educational interventions and quality of life (Soresi, Nota, & Ferrari, 2007). In this study, parental knowledge encompassed a number of different areas, but one of the lower rated items was parents’ ability to help their child behave. Given previous reports on aggression and problem behaviors in individuals with FXS (Gothelf et al., 2008; Sansone et al., 2011), these results suggest that improving parents’ confidence and 43


competence in handling these issues may have a dramatic impact on family adaptation. Finally, financial impact was another mediator that predicted all three outcomes. These findings are similar to those of other studies that have shown that families of children with disabilities often have more out-of-pocket costs than families who have typically developing children (Kogan et al., 2008; Newacheck & Kim, 2005), and often these financial hardships can lead to increased stress for families (McConnell, Breitkreuz, & Savage, 2011). Although targeting an intervention to improve families’ income is unrealistic, practitioners who work with families should be mindful that when this risk factor is combined with other child or family characteristics, there is a possibility of negative adaptation. In summary, this study provided new information on everyday life for families who have a child with FXS. Descriptive data on seven broad dimensions of family life provide hope that many families are adapting well to the demands of raising a child with FXS. However, it is important to recognize possible child and family risk factors that may affect how well families adapt. Childdirected interventions that help lessen the severity of FXS may have an immediate impact on families’ social life, which in turn will have a positive impact on families. Targeting areas of family life for intervention, such as parenting knowledge and social support, may make families more resilient to negative adaptation.

Limitations and Future Research These findings are not without limitations. First, the survey collected exclusively parent-reported data, and thus characteristics such as co-occurring conditions and fragile X mutation status were not documented through professional assessment or medical diagnosis. It is likely that variability exists across items with respect to parents’ accuracy of reporting. Second, although large, the survey sample is not representative of the general population, especially with respect to ethnicity, income, and respondent education. This may limit the generalizability of the findings. Third, the questions in the survey were intentionally broad, and we did not use clinical or standardized instruments to assess constructs such as stress, depression, or quality of life. Many of the items, however, were developed after reviewing such scales and measures. Notwithstanding this breadth, 44

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the internal consistency data were high and the findings were consistent with previous research. Future research is needed to further explore family adaptation to FXS. More work is called for on positive adaptation, such as how hope, optimism, and other protective factors can increase family resiliency. Teasing out the differences between family quality of life and overall impact is important, too, as this could provide new information on constructs that are important to family adaptation. Additionally, it is important to expand the child and family factors from this study to include other that have been shown to predict adaptation, including marital satisfaction, family cohesion, child behavior problems, and autism status. Finally, continued work on the cumulative impact of risk factors associated with having a child with FXS would be important to our understanding. Such research would enable those who work with families to develop targeted intervention strategies to ensure that all those who have a child with FXS have positive outcomes.

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Received 5/30/2012, first decision 7/19/2012, accepted 2/24/2013. Editor-in-Charge: Leonard Abbeduto Preparation of this article was supported in part by the Centers for Disease Control and Prevention (CDC) and the Association for Prevention Teaching and Research (APTR) Cooperative Agreement No. U50/ CCU300860, Project TS-1380. The findings and conclusions in this publication are those of the authors and do not necessarily represent the views of CDC or APTR. The authors express their appreciation to the

48

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research collaborators and organizations who supported the recruitment of study participants, the families who completed the survey, and staff who assisted in survey methodology (Murrey Olmsted), programming (Venkat Yetukuri), data management (Anne Kenyon and Kirstin Miller), and call center services (Ellen Fay).

Authors: Melissa Raspa (e-mail: [email protected]), RTI International; Donald Bailey, Carla Bann, and Ellen Bishop, RTI International.


Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells.

Modeling fragile X syndrome in the Fmr1 knockout mouse.

Fragile X syndrome.

The fragile X syndrome.

The fragile X syndrome.

Fragile X syndrome.

Prevalence of fragile X syndrome.

Autism and fragile X syndrome.

ataxia syndrome.

Fragile X syndrome due to a missense mutation.

Newborn screening for fragile X syndrome.

Cyclic AMP metabolism in fragile X syndrome.

Unusual presentation of fragile X syndrome.

Alcohol use dependence in fragile X syndrome.

Genotype prediction in the fragile X syndrome.

Optometric findings in the fragile X syndrome.

Molecular analysis of fragile X syndrome.

Molecular studies of the fragile X syndrome.

Risk calculations in the fragile-X syndrome.

Molecular heterogeneity of the fragile X syndrome.

Finding FMR1 mosaicism in Fragile X syndrome.

L-acetylcarnitine for treating fragile X syndrome.

Cholesterol levels in fragile X syndrome.

Translational endpoints in fragile X syndrome.