Article

‘It's especially good just to know that you're not the only one’: a qualitative study exploring experiences with online peer support programmes for the Fragile X community

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Abstract

Background Accessing peer support can be difficult for people with, or carers of people with, inherited intellectual disabilities. One way to improve access is to provide services online, yet few studies have explored people's experiences with online peer support programmes. We aimed to explore experiences with such programmes for communities affected by fragile X‐associated conditions. Methods Qualitative study involving individual semi‐structured interviews with 16 people with, or carers of people with, a fragile X‐associated condition ( n = 4 adult premutation carriers; n = 12 parents/carers of children/adults), who participated in at least one of three online peer support programmes: educational webinars, Facebook discussion group and small peer group sessions via Zoom. Reflexive thematic analysis was used to develop themes. Results Three overarching themes relating to experiences were as follows: (1) uncertainty and value of shared experiences, (2) support navigating healthcare, (3) advantages being online, but still a place for in‐person events. Educational webinars were perceived to be a valuable source of information about fragile X‐associated conditions although people had variable information needs. Facebook discussion groups enabled people to connect with others, although participants expressed some competing preferences for how the groups were organised. Zoom peer group sessions were perceived to help participants feel supported by others, but that consistency in organisation was important. Conclusions Online peer support programmes were perceived to be beneficial, bridging informational gaps and facilitating social connection. However, participants believed there was still a place for in‐person events, some felt educational webinars did not always meet their needs and some had privacy concerns.

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We found no clear evidence of effects of peer support interventions on any parent outcome, for any comparator; however, the certainty of evidence for each outcome was low to very low, and true effects may differ substantially from those reported here. We found no evidence of adverse events such as mood contagion, negative group interactions, or worsened psychological health. Qualitative data suggest that parents and carers value peer support interventions and appreciate emotional support. Authors' conclusions: Parents and carers of children with complex needs perceive peer support interventions as valuable, but this review found no evidence of either benefit or harm. Currently, there is uncertainty about the effects of peer support interventions for parents and carers of children with complex needs. However, given the overall low to very low certainty of available evidence, our estimates showing no effects of interventions may very well change with further research of higher quality.
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Since initially writing on thematic analysis in 2006, the popularity of the method we outlined has exploded, the variety of TA approaches have expanded, and, not least, our thinking has developed and shifted. In this reflexive commentary, we look back at some of the unspoken assumptions that informed how we wrote our 2006 paper. We connect some of these un-identified assumptions, and developments in the method over the years, with some conceptual mismatches and confusions we see in published TA studies. In order to facilitate better TA practice, we reflect on how our thinking has evolved – and in some cases sedimented – since the publication of our 2006 paper, and clarify and revise some of the ways we phrased or conceptualised TA, and the elements of, and processes around, a method we now prefer to call reflexive TA.
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With a rapidly growing global population of just over two billion users, Facebook has changed the way many people engage with each other. Whilst the autism community—autistic people, their families and carers, and their broader support network—are represented in this population there is limited research about how or why this community intends to use Facebook to connect and communicate. This exploratory study aimed to characterise the stated purposes of Facebook groups related to autism and their target membership. The terms autism, Asperger, ASD, Aspie, and wrong planet were used to search for Facebook groups. Using a content analysis, the group name, description, privacy status and member count of 500 autism groups on Facebook were examined. The groups had a combined membership of 905,655 English-speaking users and were created for support (60.4%), social companionship (16.4%), advocacy (15.8%), treatments (5.6%), sales (1.0%) and fundraising (0.8%). Most of the groups had a target membership of parents and families (57.4%), autistic people (23.4%), and women (10.4%). Many groups specified group etiquette (36.4%), or the geographic location of members (42.8%). Of the groups targeting autistic people, 77.8% used identity-first language, while 58.2% of groups targeting parents and families used person-first language. Separate and shared neuro-spaces appear to be negotiated within these Facebook groups and this could stimulate critical discussion around the autism community’s engagement with social media. These Facebook groups are designed to provide support to autistic people and their families and to provide social networking opportunities for autistic people.
Article
Background: Peer-mentoring is a method of delivering support that may ameliorate some of the challenges that youth with physical disabilities experience when preparing for future employment. This qualitative study compared and described forum content of an employment-focused peer e-mentoring intervention for youth with physical disabilities with a focus on support provided within a mentored group (an experimental group) and a non-mentored group (a control group). Methods: Using a descriptive qualitative approach, textual data from discussion forums of two groups within a peer e-mentoring intervention were analyzed through a content analysis. This qualitative study was part of a larger mixed-method pilot-randomized control trial on peer e-mentoring. Results: The mentored group consisted of nine youth with physical disabilities, aged 15–21 (mean age, 17.8) and two paid-peer mentors, and the non-mentored group included seven youth with physical disabilities, aged 15–19 (mean age = 16.1). We analyzed 151 posts. The types of support exchanged differed between the two groups. Two overarching themes emerged: (1) solution-focused support and (2) catalysts for support Conclusion: Peer e-mentoring can offer youth unique forms of support to help them prepare for employment. Clinicians may explore the opportunity for peer e-mentoring to complement current practice in preparing youth with physical disabilities for future employment.
Article
Background Little is known about how individuals with fragile X syndrome (FXS) and their families use technology in daily life and what skills individuals with FXS can perform when using mobile technologies. Methods Using a mixed‐methods design, including an online survey of parents (n = 198) and a skills assessment of individuals with FXS (n = 6), we examined the experiences and abilities of individuals with FXS for engaging with mobile technology. Results Parents reported that individuals with FXS often used technology in their daily lives, with variations based on age of child, sex, autism status, depression, and overall ability. Parents frequently sought and shared FXS‐related information online. Assessment data revealed that individuals with FXS demonstrated proficiency in interacting with technology. Conclusions Mobile technology is a tool that can be used in FXS to build skills and increase independence rather than simply for recreational purposes. Implications for using mobile technology to enhance healthcare decision making are discussed.
Article
Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P?<?0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P?<?0.001) and SSRIs (40%; P?<?0.001). For females, only stimulants (33%; P?=?0.03) and SSRIs (44%; P?=?0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS.
Article
Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in female carriers of the premutation in normal populations (biased against individuals with intellectual disability), based on diagnosis by polymerase chain reaction or Southern blotting. A sensitivity analysis included studies using any diagnostic testing method and conference abstracts. Sixty-eight recorded observations provided data for the primary (56 observations) and sensitivity (12 observations) analysis. Using the random-effects model, frequency of the full mutation was 1.4 (95% CI: 0.1-3.1) per 10,000 males and 0.9 (95% CI: 0.0-2.9) per 10,000 females (1:7,143 and 1:11,111, respectively) in the total population. The premutation frequency was 11.7 (95% CI: 6.0-18.7) per 10,000 males and 34.4 (95% CI: 6.3-83.3) per 10,000 for females (1:855 and 1:291, respectively) in the total population. The prevalence of female carriers of the premutation in the normal population was 34.4 (95% CI: 8.9-60.3) per 10,000, or 1:291. Sensitivity analyses resulted in similar prevalence estimates but with wider heterogeneity. Prevalence estimates for the full mutation from this meta-analysis are lower than those in previous reviews of fragile X syndrome epidemiological data. © 2014 Wiley Periodicals, Inc.
Article
: To describe the health and economic burden experienced by caregivers of individuals with fragile X syndrome (FXS) and test the assumption that burden is associated with specific dimensions of problem behavior. : Three hundred fifty caregivers rated their son or daughter's problem behavior and reported the use of medical services, caregiving time, impact on employment, financial burden, caregiver injuries, caregiver mental health, and prescription drug use. : The son's FXS posed a significant burden for caregivers in a number of areas. Visits to medical specialists were common for both males (5.4 per year) and females (5.1 per year). Caregivers reported 9.2 hours per day of family caregiving for males with FXS and an additional 5.5 hours of paid help. Most families reported that FXS had at least some financial impact on the family, and caregivers had to take an average of 19.4 hours from work each month to care for their child's needs. Almost one third of the caregivers had been injured by their child at least once in the past year; when injuries occurred, the frequency was high (14.7 per year), of which 2.7 required medical care. Approximately one third of the caregivers had seen a professional for anxiety, stress, or depression during the past year, and one fourth were taking medication to help with these symptoms. Caregiver burden was highly associated with problem behavior, most commonly irritability. : Problem behavior is a strong contributor to burden experienced by caregivers of children and adults with FXS. Clinicians should be aware of the role problem behavior plays in family adaptation and help families access appropriate medical and social support services.
Article
Fragile X Syndrome (FraX) is the most common inherited cause of learning disability worldwide. FraX is an X-linked neuro-developmental disorder involving an unstable trinucleotide repeat expansion of cytosine guanine guanine (CGG). Individuals with the full mutation of FraX have >200 GG repeats with premutation carriers having 55-200 GG repeats. A wide spectrum of physical, behavioural, cognitive, psychiatric and medical problems have been associated with both full mutation and premutation carriers of FraX. In this review, we detail the clinical profile and examine the aetiology, epidemiology, neuropathology, neuroimaging findings and possible management strategies for individuals with both the full mutation and premutation of FraX.
Article
International research in recent years has begun to focus on the medical problems of individuals with intellectual disabilities and on family stress in accessing health services for persons with developmental disabilities. Less is known about the needs of individuals in different diagnostic groups, or about their experiences of systems of care. Therefore, we report the results of focus groups with parents of children or adults with fragile X syndrome, autism or Down syndrome. Semi-structured group interviews with parents of children, youth or adults from each of three diagnostic groups probed perceptions of challenges and successes in obtaining and negotiating healthcare services in Ontario, Canada. Parents described diverse barriers to care, the need for advocacy in securing services, perceptions of service delivery and the role of healthcare professionals in regulating access to a wide range of services. Diagnostic services represented one area of central concern to parents from all three groups. Focus group data yielded a wide range of concerns. Suggestions for enhancing the system included expanding syndrome-specific education for medical students and health professionals and creating a centre that could offer service-related information for parents.
Article
The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. Previous work has shown that approximately 35% of heterozygotes (women who carry the fragile X gene) demonstrate cognitive impairment. Thirty-two girls, 18 years or younger, who demonstrate the fragile X chromosome were evaluated and compared with 19 sisters who do not demonstrate the fragile X chromosome. Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behavioral, and physical features) were seen between the two groups. Twenty-five percent of fragile X-positive girls had an IQ in the mentally retarded range (IQ less than 70) and 28% had an IQ in the borderline range (70 to 84). Prominent ears, shyness, and poor eye contact were significant findings in fragile X-positive girls compared with fragile X-negative girls. Thirty-one percent of the fragile X-positive girls had significant attentional difficulties and most of these girls were successfully treated with stimulant medication. The majority of fragile X-positive girls in this study demonstrated significant behavioral and developmental problems which required identification and appropriate treatment. Pediatricians and health care providers should be aware of the frequency and manner with which fragile X affects females in order to initiate cytogenetic studies and treatment when indicated.
Article
Two studies tested the specificity of the neurocognitive profile of women with fragile X syndrome (FXS). First, women with an FXS full mutation were compared with women with a premutation and women without FXS who grew up in FXS families. Women with FXS had a significantly lower IQ than the other groups, and analyses of subtest profiles showed they had a relative weakness on Arithmetic and strength on Picture Completion. Women with FXS performed worse than the other groups on executive function, spatial ability, and visual memory. Next, women with FXS were compared with women without FXS matched on age and IQ. A similar IQ profile was found, but women with FXS were worse than controls only on executive function. The authors also examined which neurocognitive indices were related to the underlying biology of the disorder. Overall, the results indicated that executive rather than visuospatial deficits were primary in the neurocognitive profile of FXS.
Article
This study examined parental and family stress and functioning where there is a child with fragile X syndrome. Mothers and fathers in 40 families were asked about their child with fragile X syndrome, family supports, their psychological stress, the marital relationship, and their family stress. Results indicate parents were well adjusted in terms of their levels of psychological stress and in their marital relationships, however, parents reported high levels of family stress. Mothers and fathers were found to experience similar levels of stress and to report similar levels of satisfaction with supports. Stress was predicted by different variables in mothers and fathers, suggesting that different processes underlie their experiences. The strongest predictor of maternal stress was the level of marital satisfaction while the strongest predictor of paternal stress was the level of the child's adaptive skills.
Article
Background: Research on parental well-being has focused largely on Down syndrome and autism; however, fragile X syndrome is likely to pose different challenges for parents compared with these other diagnostic conditions. Moreover, there is considerable variability among youth with fragile X syndrome; for example, 25% to 33% of affected youth meet criteria for a co-morbid diagnosis of autism. It is likely that parents of youth with fragile X syndrome will experience different degrees and patterns of stress, depending on whether their offspring do or do not have a co-morbid diagnosis of autism. In the present study, we compared mothers of three groups of young males on measures of psychological well-being and stress: those with fragile X syndrome and a co-morbid diagnosis of autism; those with fragile X syndrome alone; and those with Down syndrome. Method: The sample consisted of mothers of adolescent and young adult males with fragile X syndrome and co-morbid autism (n=9), fragile X syndrome alone (n=19), and Down syndrome (n=19). We screened all youth for autism using the Autism Behavior Checklist, which was completed by mothers, fathers and teachers, and the youth who scored above the suggested cut-off were evaluated by a licensed psychologist to determine autism status. The three groups of youth did not differ in chronological age (16.4, 15.8 and 16.0 years, respectively) or non-verbal mental age (3.8, 3.9 and 3.8 years, respectively). Several self-report measures were completed by mothers. These measures assessed current mental health status (e.g. the Center for Epidemiological Studies Depression Scale), perceptions of their son's and family's functioning (e.g. the Positive Affect Index, which measures closeness felt by the mother to her son and also reciprocated closeness felt by the son towards the mother, as perceived by the mother), and approach to coping with their son's disability [e.g. the Multidimensional Coping Inventory (COPE), which measures emotion-focused and problem-solving focused coping]. Results: The results suggest that fragile X syndrome creates more challenges to maternal psychological well-being than Down syndrome, and that the combination of fragile X syndrome and autism can be particularly challenging. Differences among groups, however, were manifested mainly as concerns about the affected son and about relationships within the family rather than as lower levels of mental health. Thus, mothers of sons with fragile X syndrome, regardless of the son's autism status, reported more pessimism about the son's future and more conflict within the family than mothers of sons with Down syndrome. Additionally, mothers of sons with fragile X syndrome and co-morbid autism reported lower levels of reciprocated closeness than the other two groups of mothers. Conclusion: We consider possible causes of these maternal differences, the implications for clinical practice, needs for future research, and the importance of understanding child and contextual factors as well as the dynamics leading to these differences.
Article
One hundred eight carrier mothers (95 premutation, 13 full mutation) of children with the full mutation fragile X syndrome completed seven scales to assess maternal stress, depressive symptoms, anger, anxiety, quality of life, hope, and optimism. A wide range of responses was found on each measure, with most mothers scoring in the non-clinical range on any individual measure. However, nearly half of the mothers scored in the clinically significant range on at least one measure and 25% on two or more measures. High stress and low quality of life were the most common domains of concern. Mothers with the full mutation generally did not differ from mothers with the premutation. CGG repeat length was not associated with responses on any of the measures completed by mothers with the premutation. Severity of the child's delay was not associated with any of the outcome measures, but child behavior problems accounted for significant variance in stress, depressive symptoms, anxiety, anger, and quality of life. Maternal adaptation appears to be a multidimensional phenomenon experienced in unique ways by each mother. Most mothers experienced positive adaptation, but a subset appear to be more vulnerable, especially those with children who have significant behavior problems. Future research needs to identify family, child, and support factors associated with maternal vulnerability and how adaptation changes over time in response to these factors.
The interconnection between interpretivist paradigm and qualitative methods in Education
  • N C Thanh
  • T Thanh
Thanh N. C. & Thanh T. (2015) The interconnection between interpretivist paradigm and qualitative methods in Education. American Journal of Educational Science 1, 24-7.
Health and economic consequences of fragile X syndrome for caregivers
  • D B Bailey
  • Jr
  • M Raspa
  • E Bishop
  • D Mitra
  • S Martin
  • A Wheeler
Bailey D. B., Jr., Raspa M., Bishop E., Mitra D., Martin S., Wheeler A. et al. (2012) Health and economic consequences of fragile X syndrome for caregivers. Journal of Developmental and Behavioral Pediatrics 33, 705-12.