Using a Parent Survey to Advance Knowledge About the Nature and Consequences of Fragile X Syndrome

RTI International, Research Triangle Park, NC, USA.
American Journal on Intellectual and Developmental Disabilities (Impact Factor: 2.08). 11/2010; 115(6):447-60. DOI: 10.1352/1944-7558-115.6.447
Source: PubMed


Understanding the nature and consequences of intellectual and developmental disabilities is challenging, especially when the condition is rare, affected individuals are geographically dispersed, and/or resource constraints limit large-scale studies involving direct assessment. Surveys provide an alternative methodology for gathering information but must be carefully designed and interpreted in light of obvious limitations. In this paper we discuss the potential of surveys in understanding a disabling condition; delineate characteristics of successful survey research; describe a survey of families of individuals with fragile X syndrome; and synthesize major findings. The survey has provided new information about the nature and consequences of fragile X syndrome in a cost-effective fashion, suggesting that survey methodology has a useful place in creating new knowledge about intellectual and developmental disabilities.

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    • "In addition to the standardized measures, survey respondents were asked to provide information regarding several areas of caregiving burden [Bailey et al., 2012b]. Many of these items were replicated from a previous survey of caregivers of individuals with FXS [Bailey et al., 2010]. Prior to data collection, we conducted cognitive testing to make sure the items were written clearly, the response options were not too broad or narrow, and the overall format of the survey was understandable. "
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    ABSTRACT: Behavior problems are a common challenge for individuals with fragile X syndrome (FXS) and constitute the primary clinical outcome domain in trials testing new FXS medications. However, little is known about the relationship between caregiver-reported behavior problems and co-occurring conditions such as anxiety and attention problems. In this study, 350 caregivers, each with at least one son or daughter with full-mutation FXS, rated one of their children with FXS using the Aberrant Behavior Checklist-Community Version (ABC-C); the Anxiety subscale of the Anxiety, Depression, and Mood Scale; and the Attention/Hyperactivity Items from the Symptom Inventories. In addition to examining family consequences of these behaviors, this study also sought to replicate psychometric findings for the ABC-C in FXS, to provide greater confidence for its use in clinical trials with this population. Psychometric properties and baseline ratings of problem behavior were consistent with other recent studies, further establishing the profile of problem behavior in FXS. Cross-sectional analyses suggest that selected dimensions of problem behavior, anxiety, and hyperactivity are age related; thus, age should serve as an important control in any studies of problem behavior in FXS. Measures of anxiety, attention, and hyperactivity were highly associated with behavior problems, suggesting that these factors at least coincide with problem behavior. However, these problems generally did not add substantially to variance in caregiver burden predicted by elevated behavior problems. The results provide further evidence of the incidence of problem behaviors and co-occurring conditions in FXS and the impact of these behaviors on the family. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 01/2014; 164(1):141-55. DOI:10.1002/ajmg.a.36232 · 2.16 Impact Factor
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    ABSTRACT: To identify the most common neurological and behavioral symptoms treated by medications in individuals with fragile X syndrome (FXS), factors associated with treatment variability, and difficulty in swallowing a pill. A total of 1019 caregivers provided information about 1064 sons and 299 daughters with FXS in a US national survey. Caregivers reported (a) current use of medications for attention, anxiety, hyperactivity, mood swings, anger, depression, seizures, self-injury, or sleep; (b) perceived efficacy; and (c) difficulty in swallowing a pill. Sixty-one percent of males and 38% of females were currently taking medication for at least 1 symptom. The most common symptoms were anxiety, attention, and hyperactivity. Treatments for attention and hyperactivity were common in childhood but declined substantially after the age of 18 years; anxiety treatment remained high in adults. Children perceived to be more impaired and children diagnosed or treated for autism were more likely to be taking medications. Caregivers considered most medications somewhat effective, but less than one-third rated current medication as "a lot" effective. Many children had difficulty swallowing a pill, but only 11% of adult males and 2% of adult females had a lot of difficulty. Symptom-based medication use is common in FXS, although response is incomplete and there is clearly an unmet need for medications with improved efficacy. The persistent use of medications to treat anxiety, mood, and behavior problems throughout adolescence and into the adult years suggests important outcomes when evaluating the efficacy of new medications.
    Journal of developmental and behavioral pediatrics: JDBP 11/2011; 33(1):62-9. DOI:10.1097/DBP.0b013e318236c0e1 · 2.13 Impact Factor
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