Murrey Olmsted

Co‐occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

Parents enrolling in a national survey of families of children with fragile X (FX) reported whether each of their children had been diagnosed or treated for developmental delay or eight conditions frequently associated with FX: attention problems, hyperactivity, aggressiveness, self‐injury, autism, seizures, anxiety, or depression. This article reports results for 976 full mutation males, 259 full mutation females, 57 premutation males, and 199 premutation females. Co‐occurring conditions were frequently reported for all FMR1 gene variations. The number of co‐occurring conditions experienced was strongly associated with parent reports of their childs ability to learn, adaptability, and quality of life. Most individuals with the full mutation experienced multiple co‐occurring conditions, with a modal number of 4 for males and 2 for females. Most (>80%) full mutation males and females had been diagnosed or treated for attention problems. Premutation males, when compared with a matched group of non‐FX males, were more likely to have been diagnosed or treated for developmental delay, attention problems, aggression, seizures, autism, and anxiety. Premutation females were more likely to have been diagnosed or treated for attention problems, anxiety, depression, and developmental delay. Clusters of conditions were identified, seeming to occur in an additive fashion. Self‐injury, autism, and seizures rarely occurred in isolation, but were more likely in individuals who also had problems with attention, anxiety, and hyperactivity. The findings provide a reference point for future studies on the prevalence and nature of co‐occurring conditions in FX; suggest the possibility that certain conditions cluster together; provide evidence that male and female carriers experience elevated rates of co‐occurring conditions compared with matched groups of non‐carrier children; and emphasize the importance of including an assessment of co‐occurring conditions in any clinical evaluation of individuals with abnormal variation in the FMR1 gene.

Nonresponse Bias in a Mail Survey of Physicians

With the increased pressure on survey researchers to achieve high response rates, it is critical to explore issues related to nonresponse. In this study, the authors examined the effects of nonresponse bias in a mail survey of physicians (N = 3,400). Because slightly more than one half of the sample did not respond to the survey, there was potential for bias if nonresponders differed significantly from responders with respect to key demographic and practice variables. They analyzed response status and timing of response with respect to five variables: gender, region, specialty, urbanicity, and survey length. The potential consequences of nonresponse bias on the survey estimates were then analyzed. Men were more likely to respond, as were physicians receiving a shorter questionnaire. Repeated follow-up attempts reduced gender response bias because male physicians were more likely to be early responders. Overall, higher response rates were not associated with lower response bias.

Functional Skills of Individuals With Fragile X Syndrome: A Lifespan Cross-Sectional Analysis

Parents of 1,105 male and 283 female children with fragile X syndrome described functional skill attainment in eating, dressing, toileting, bathing/hygiene, communication, articulation, and reading. The majority of adult children had mastered many skills independently. Most adults were verbal, used the toilet, dressed, ate independently, bathed, and used a towel independently. However, some skills were not as well-developed, such as using complex sentences, reading, or speaking at a typical rate. As expected, significant differences were found between males and females. The findings highlight major skill attainments, identify skills that should be the target of specific intervention programs, suggest variable trajectories to be tested more precisely through direct assessments and longitudinally, and provide baseline data for treatment studies.

Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.

Objective: 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. Method: 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. Results: 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. Conclusion: 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.

Measuring Family Outcomes in Early Intervention: Findings from a Large-Scale Assessment:

This article reports data from a large-scale assessment using the Family Outcomes Survey with families participating in early intervention. The study was designed to determine how families describe themselves with regard to outcomes achieved, the extent to which outcomes are interrelated, and the extent to which child, family, and program factors are associated with outcomes. Families reported positive outcomes, but there was variability in their responses. Factor analysis revealed that outcomes clustered in two areas: (a) family knowledge and ability, and (b) family support and community services. Hierarchical linear models indicated race/ethnicity, income, time in early intervention, perception of early intervention, and family-centered services were related to family outcomes. Recommendations for how to best use survey data are discussed.

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

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.

A web-based intervention to support increased physical activity among at-risk adults

Physical inactivity is an important contributor to the development of numerous chronic conditions and alone is an independent risk factor for diabetes, cardiovascular disease, and depression and yet, most Americans consistently fail to achieve the recommended amount of physical activity. As part of Project HealthDesign, we designed and prototyped a personal health record application (PHA) that delivers and supports a highly individualized, behaviorally based lifestyle physical activity intervention for sedentary adults. Through a user centered design approach, we engaged consumers, health care providers, and personal trainers for multiple facilitated group discussions and structured interviews to determine their needs and wants related to an activity PHA. The PHA was developed to include elements of evidence-based approaches which help participants adopt cognitive and behavioral skills such as goal-setting, self-monitoring, accepting social support, cognitive restructuring, contingency management, decisional balance, and relapse prevention. This PHA demonstrated the potential for research-based behavioral interventions to be delivered via a web portal. This finding is important for both consumers and their providers who have the desire to implement physical activity recommendations, but lack the tools to facilitate or undertake such interventions.

Development and Psychometric Validation of the Family Outcomes Survey-Revised

Few psychometrically valid scales exist to assess family outcomes and the helpfulness of early intervention. This article describes the development and psychometric properties of the Family Outcomes Survey—Revised. The revision was prompted by the need to (a) create a new format that would be easier for parents to understand, (b) revise and expand the survey items to provide more information for states to use in planning for program improvement, and (c) demonstrate acceptable psychometric properties. Input from stakeholders and experts was used to identify concepts and develop candidate items. Data from a web-based survey conducted with 265 families in Illinois and Texas were used to assess the psychometric properties of candidate items. These activities produced a revised survey with sound psychometric integrity that can be used to document family outcomes and identify areas for program improvement.

Obesity, Food Selectivity, and Physical Activity in Individuals With Fragile X Syndrome

National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (∼30%). Male children with fragile X syndrome, however, had higher rates of obesity (31%) when compared with typically developing same-aged peers (18%). Both males and females displayed food selectivity, especially with regard to texture. Physical activity levels for children were higher than for adults, but neither group met recommended levels. Several cognitive and behavioral characteristics, food selectivity, and physical activity were related to overall health and body mass index. Continued monitoring of the health status of individuals with fragile X syndrome is recommended.

Outcomes Reported by Spanish-Speaking Families in Early Intervention:

In this study, the authors use data from two states to compare how families participating in early intervention who completed a Spanish version of the Family Outcomes Survey (FOS) ( n = 291) compared with Hispanic (n = 486) and non-Hispanic ( n = 2,363) families who completed the English version. In general, most families reported positive outcomes, but there was variability in their responses. Families completing the survey in Spanish consistently reported lower outcome attainment than both Hispanic and non-Hispanic families completing the FOS in English. They also reported lower perceptions of the helpfulness of early intervention, but the three groups did not differ with regard to perceptions of family-centered practices. Factor analysis revealed that constructs assessed by the survey are similar for both the English and Spanish version of the survey. Hierarchical linear models analysis within the Spanish-language group indicated that family-centered practices were significantly related to family outcomes.