Publications

Ouyang, L., Grosse, S. D., Riley, C., Bolen, J., Bishop, E., Raspa, M., & Bailey, D. B., Jr. (2014). A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability. Res Dev Disabil, 35(7), 1518-1527.

This study compares the family financial and employment impacts of having a child with fragile X syndrome (FXS), autism spectrum disorder (ASD), or intellectual disabilities (ID). Data from a 2011 national survey of families of children with FXS were matched with data from the National Survey of Children with Special Health Care Needs 2009-2010 to form four analytic groups: children with FXS (n=189), children with special health care needs with ASD only (n=185), ID only (n=177), or both ASD and ID (n=178). Comparable percentages of parents of children with FXS (60%) and parents of children with both ASD and ID (52%) reported that their families experienced a financial burden as a result of the condition, both of which were higher than the percentages of parents of children with ASD only (39%) or ID only (29%). Comparable percentages of parents of children with FXS (40%) and parents of children with both ASD and ID (46%) reported quitting employment because of the condition, both of which were higher than the percentages of parents of children with ID only (25%) or ASD only (25%). In multivariate analyses controlling for co-occurring conditions and functional difficulties and stratified by age, adjusted odds ratios for the FXS group aged 12-17 years were significantly elevated for financial burden (2.73, 95% CI 1.29-5.77), quitting employment (2.58, 95% CI 1.18-5.65) and reduced hours of work (4.34, 95% CI 2.08-9.06) relative to children with ASD only. Among children aged 5-11 years, the adjusted odds ratios for the FXS group were elevated but statistically insignificant for financial burden (1.63, 95% CI 0.85-3.14) and reducing hours of work (1.34, 95% CI 0.68-2.63) relative to children with ASD only. Regardless of condition, co-occurring anxiety or seizures, limits in thinking, reasoning, or learning ability, and more irritability were significantly associated with more caregiver financial and employment impacts. Proper management of anxiety or seizures and functional difficulties of children with FXS or other developmental disabilities may be important in alleviating adverse family caregiver impacts.

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Raspa, M., Bailey, D. B., Jr., Bann, C., & Bishop, E. (2014). Modeling family adaptation to fragile X syndrome. Am J Intellect Dev Disabil, 119(1), 33-48.

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.

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Bailey, D. B., Jr., Raspa, M., Bishop, E., Mitra, D., Martin, S., Wheeler, A., & Sacco, P. (2012). Health and economic consequences of fragile X syndrome for caregivers. J Dev Behav Pediatr, 33(9), 705-712.

OBJECTIVE: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSION: 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.

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Ouyang, L., Grosse, S., Raspa, M., & Bailey, D. (2010). Employment impact and financial burden for families of children with fragile X syndrome: findings from the National Fragile X Survey. J Intellect Disabil Res, 54(10), 918-928.

BACKGROUND: The employment impact and financial burden experienced by families of children with fragile X syndrome (FXS) has not been quantified in the USA.

METHOD: Using a national fragile X family survey, we analysed data on 1019 families with at least one child who had a full FXS mutation. Out-of-pocket expenditures related to fragile X were reported. We used logistic regression to examine the role of insurance, number of affected children, and number of total co-occurring conditions in predicting the financial burden and employment impact of FXS, while adjusting for race, education, marital status and other sociodemographic predictors.

RESULTS: Almost half of families affected by FXS reported that they had experienced an increased financial burden and nearly 60% stated that they had had to change work hours or stop work because of FXS. Families with health insurance that met family needs were significantly less likely to report an excess financial burden. The type of insurance (private or public) was not associated with the reported financial burden. Affected children's mutation status, especially male children with the full mutation, was associated with employment impact. The total number of co-occurring conditions was associated with both financial burden and employment impact.

CONCLUSIONS: Families affected by FXS experienced a significant employment impact and financial burden. Policies designed to help families with FXS need to take into consideration the dimension of co-occurring conditions.

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Wheeler, A. C., Raspa, M., Bishop, E., & Bailey, D. B., Jr. (2016). Aggression in fragile X syndrome. J Intellect Disabil Res, 60(2), 113-125.

BACKGROUND: Individuals with fragile X syndrome (FXS), especially men, have long been described as presenting with significant behavioural challenges. Despite this known aspect of the phenotype, there has been little research exploring the prevalence, frequency, nature or consequences of aggressive behaviour in FXS.

METHODS: This study used survey methodology to gather caregiver reports on the types, frequency and severity of aggressive behaviour in 774 individuals with FXS.

RESULTS: Based on caregiver report, nearly all (>90%) male and female individuals were reported to have engaged in some aggression over the previous 12 months, with a third of male cases and slightly fewer than 20% of female cases being described as engaging in moderate to severe aggression or being diagnosed or treated for aggression. Further, aggressive behaviours in male individuals were serious enough that 30% had caused injuries to caregivers and 22% had caused injuries to peers or friends. Sensory issues and hyperactivity were significant predictors of the frequency of aggressive acts, while sensory issues and anxiety were predictive of the severity of aggression. Traditional behaviour management techniques as well as medication was described as the most common and successful treatment options.

CONCLUSIONS: Aggressive behaviours are a significant concern for a subsample of both male and female individuals with FXS. Given that sensory concerns were predictive of both the frequency and the severity of aggression suggests these behaviours may be a reactive means of escaping uncomfortable situations.

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Hartley, S. L., Wheeler, A. C., Mailick, M. R., Raspa, M., Mihaila, I., Bishop, E., & Bailey, D. B. (2015). Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis. J Autism Dev Disord, 45(11), 3668-3679.

A cross-sectional analysis was used to examine age-related differences in ASD symptoms and corresponding differences in disruptive behavior and social skills in 281 adult men with fragile X syndrome. Four age groups were created: 18-21, 22-29, 30-39, and 40-49 years. The 18-21 year-old group was reported to have more impairments in verbal communication than the 22-29 year-old group and more restricted and repetitive behaviors than the 40-49 year-old group. There was not an age-group difference in the percentage of men who met criteria for an ASD diagnosis based on respondent-reported, current symptoms. There was a trend for an age-related difference in disruptive behavior. Findings add to understanding of the developmental trajectory of ASD symptoms in adulthood.

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Wheeler, A. C., Mussey, J., Villagomez, A., Bishop, E., Raspa, M., Edwards, A., . . . Bailey, D. B., Jr. (2015). DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome. J Autism Dev Disord, 45(3), 816-829.

We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses. Symptom counts were categorized based on DSM-IV-TR and DSM-5 criteria. Based on behavioral symptoms endorsed by caregivers, 38.7 % of males and 24.7 % of females met criteria for DSM-IV-TR diagnosis of autistic disorder. Significantly fewer males (27.8 %) and females (11.3 %) met criteria for ASD based on DSM-5 criteria. Although 86.4 % of males and 61.7 % of females met criteria for the restricted and repetitive behavior domain for DSM-5, only 29.4 % of males and 13.0 % of females met criteria for the social communication and interaction (SCI) domain. Relaxing the social communication criteria by one symptom count led to a threefold increase in those meeting criteria for ASD, suggesting the importance of subthreshold SCI symptoms for individuals with FXS in ASD diagnoses. Findings suggest important differences in the way ASD may be conceptualized in FXS based on the new DSM-5 criteria.

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Wheeler, A., Raspa, M., Bann, C., Bishop, E., Hessl, D., Sacco, P., & Bailey, D. B., Jr. (2014). Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome. Am J Med Genet A, 164A(1), 141-155.

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.

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Wheeler, A. C., Raspa, M., Green, A., Bishop, E., Bann, C., Edwards, A., & Bailey, D. B., Jr. (2014). Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency. Front Genet, 5, 300. (PDF)

Recently, research has indicated an increased risk for greater medical and emotional comorbidity and physical health symptoms among women with an FMR1 expansion. However, these studies have generally been limited in their ability to model multiple risk factors associated with these symptoms by small numbers (n = 112-146) of participants. This study used survey methodology to examine the health experiences of 458 adult women with the premutation with and without a history of a fragile X primary ovarian insufficiency (FXPOI) diagnosis. Results suggest similar findings to those reported in the literature with regard to the frequency of medical, emotional, and reproductive experiences of women with the premutation. In addition to expected reproductive differences, women with a diagnosis of FXPOI were also more likely to experience dizziness, nausea, and muscle weakness than women without a diagnosis of FXPOI. Women with and without FXPOI were more likely to have used reproductive assistance and were more likely to have experienced preeclampsia during at least one pregnancy than is reported in the general population. Having comorbid depression and anxiety was predictive of increased medical conditions and increased daily physical health symptoms.

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Berry-Kravis, E., Raspa, M., Loggin-Hester, L., Bishop, E., Holiday, D., & Bailey, D. B. (2010). Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil, 115(6), 461-472.

A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were infrequent and easily treated. Similar characteristics and patterns were seen in medical chart review data from a large clinic cohort of patients with fragile X syndrome. National survey data showed that autism was significantly associated with seizures as a co-occurring condition. Although seizures in fragile X syndrome are typically not severe and easily treated with medications, they appear to be associated with developmental-behavioral comorbidity that impacts function.

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Kronk, R., Bishop, E. E., Raspa, M., Bickel, J. O., Mandel, D. A., & Bailey, D. B., Jr. (2010). Prevalence, nature, and correlates of sleep problems among children with fragile X syndrome based on a large scale parent survey. Sleep, 33(5), 679-687. (PDF)

STUDY OBJECTIVES: This study reports on current child sleep difficulties reported by parents of children with fragile X syndrome (FXS). We address prevalence and type of sleep problems (e.g., difficulty falling asleep, frequent awakenings); type and effectiveness of medical and behavioral treatments (e.g., medication, surgery, environmental changes); and explore specific child and family characteristics (e.g., child age, child gender, co-occurring conditions) as possible predictors of child sleep difficulties.

DESIGN/PARTICIPANTS: This study is part of a larger survey addressing needs of families with children with FXS. This article focuses on the families who responded to the survey sleep questions, had one or more children with the full mutation FXS, and who reside in the United States. The mean age for male and female children in this group was 15 years and 16 years respectively (N=1295).

RESULTS: Parents reported that 32% of the children with FXS currently experience sleep difficulties; 84% of those children are reported to have > or =2 current sleep problems. Problems falling asleep and frequent night awakenings were the most frequently reported difficulties; 47% of males and 40% of females received > or =1 medication to help with sleep. Children with more problematic health or behavioral characteristics had a higher likelihood of having current sleep problems.

CONCLUSIONS: Our survey provides the most representative sample to date of sleep problems in children with FXS or any other neurodevelopmental disability. This large-scale survey establishes a foundation for the prevalence of sleep disorders in children with FXS.

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Raspa, M., Bailey, D. B., Bishop, E., Holiday, D., & Olmsted, M. (2010). Obesity, food selectivity, and physical activity in individuals with fragile X syndrome. Am J Intellect Dev Disabil, 115(6), 482-495.

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 (approximately 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.

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Symons, F. J., Byiers, B. J., Raspa, M., Bishop, E., & Bailey, D. B. (2010). Self-injurious behavior and fragile X syndrome: findings from the national fragile X survey. Am J Intellect Dev Disabil, 115(6), 473-481.

We used National Fragile X Survey data in order to examine reported self-injurious behavior (SIB) to (a) generate lifetime and point prevalence estimates, (b) document detailed features of SIB (frequency, types, location, severity) in relation to gender, and (c) compare comorbid conditions between matched pairs (SIB vs. no SIB). Results indicate significant gender differences in frequency, topography, and location of SIB as well as sleep difficulties, comorbid conditions, pain sensitivity, and seizures. Matched pair comparisons (SIB vs. no SIB) revealed differences for males in sensory and attention problems, hyperactivity, aggression, autism, and anxiety and for females, in autism, attention, and anxiety. These results further clarify gender differences as well as comorbidity patterns between children with fragile X syndrome with and without SIB.

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Bailey, D. B., Raspa, M., & Olmsted, M. G. (2010). Using a parent survey to advance knowledge about the nature and consequences of fragile X syndrome. Am J Intellect Dev Disabil, 115(6), 447-460.

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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Bailey, D. B., Jr., Raspa, M., Olmsted, M., & Holiday, D. B. (2008). Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A, 146A(16), 2060-2069.

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 child's 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.

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Hartley, S. L., Seltzer, M. M., Raspa, M., Olmstead, M., Bishop, E., & Bailey, D. B. (2011). Exploring the adult life of men and women with fragile X syndrome: results from a national survey. Am J Intellect Dev Disabil, 116(1), 16-35. (PDF)

Using data from a national family survey, the authors describe the adult lives (i.e., residence, employment, level of assistance needed with everyday life, friendships, and leisure activities) of 328 adults with the full mutation of the FMR1 gene and identify characteristics related to independence in these domains. Level of functional skills was the strongest predictor of independence in adult life for men, whereas ability to interact appropriately was the strongest predictor for women. Co-occurring mental health conditions influenced independence in adult life for men and women, in particular, autism spectrum disorders for men and affect problems for women. Services for adults with fragile X syndrome should not only target functional skills but interpersonal skills and co-occurring mental health conditions.

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Bailey, D. B., Raspa, M., Holiday, D., Bishop, E., & Olmsted, M. (2009). Functional skills of individuals with fragile X syndrome: a lifespan cross-sectional analysis. Am J Intellect Dev Disabil, 114(4), 289-303. (PDF)

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.

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Raspa, M., Edwards, A., Wheeler, A. C., Bishop, E., & Bailey, D. B., Jr. (2016). Family Communication and Cascade Testing for Fragile X Syndrome. J Genet Couns.

A total of 679 families who had at least one child with fragile X syndrome (FXS) were recruited from a research registry to participate in a survey examining cascade testing and communication about FXS. Families had a total of 1117 children (804 males, 313 females). Most families (84 %) had tested all of their children. The main reason for not testing, which did not differ by gender or age of the child, was that the child did not show signs of FXS (68 %). Families talked with their children about FXS occasionally (47 %) although 16 % said they do not talk about it. Most families (66 %) had told their children their FXS status, with males and those with the premutation being less likely to be told test results. Of those that did not, 46 % said that they would tell their child when they were old enough to understand, whereas 34 % had either decided they would not tell or were not sure if or when they were going to tell. About a quarter of respondents (28 %) indicated that no extended family members had been tested, with income and communication about FXS being the strongest predictors. Results from this large-scale survey provide important data on how families communicate about FXS and reasons testing is or is not sought. This information can be used by genetic counsellors in providing follow-up to families after a FXS diagnosis.

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Bailey, D. B., Jr., Bishop, E., Raspa, M., & Skinner, D. (2012). Caregiver opinions about fragile X population screening. Genet Med, 14(1), 115-121. (PDF)

PURPOSE: We sought to determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening.

METHODS: We asked 1,099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent-child bonding, indicated preferences for carrier detection, and gave reasons for their choices.

RESULTS: Caregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent-child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening.

CONCLUSION: Caregivers of children with fragile X widely endorse screening. However, because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision-making.

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Bailey, D. B., Jr., Raspa, M., Bishop, E., & Holiday, D. (2009). No change in the age of diagnosis for fragile X syndrome: findings from a national parent survey. Pediatrics, 124(2), 527-533.

OBJECTIVE: To determine recent trends in the diagnosis of children with fragile X syndrome (FXS) and identify factors associated with the timing of diagnosis.

METHODS: More than 1000 families of children with FXS participated in a national survey. Of these, 249 had their first child (213 boys, 36 girls) diagnosed between 2001 and 2007 and did not know about FXS in their family before diagnosis. These parents answered questions about the average age of first concerns, developmental delays, early intervention, and the FXS diagnosis. They also provided other information about their child and family, reported who made the diagnosis, and described ramifications for other children and extended family members.

RESULTS: The average age of FXS diagnosis of boys remained relatively stable across the 7-year period at approximately 35 to 37 months. The 36 girls with full mutation were given the diagnosis at an average age of 41.6 months. A trend was noted in earlier diagnosis of developmental delay for boys in more recent years. Approximately 25% of the families of male children had a second child with the full mutation before the diagnosis was given to the first child; 14 (39%) of the 36 families of female children had a second child with the full mutation before the diagnosis.

CONCLUSIONS: Despite patient advocacy, professional recommendations regarding prompt referral for genetic testing, and increased exposure to information about FXS in the pediatric literature, no changes were detected in the age of diagnosis of FXS during the time period studied. Earlier identification in the absence of systematic screening will likely continue to be a challenge.

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Raspa, M., Sacco, P., Candrilli, S. D., Bishop, E., & Petrillo, J. (2016). Validity of a condition specific outcome measure for fragile X syndrome: the Aberrant Behaviour Checklist-utility index. J Intellect Disabil Res.

BACKGROUND: The purpose of this study was to assess the construct validity of the Aberrant Behaviour Checklist-utility index (ABC-UI) by examining the relationship between healthcare resource utilisation by patients with fragile X syndrome (FXS) as well as burden experienced by their caregivers.

METHOD: In 2011, a total of 350 US caregivers of individuals with FXS completed a questionnaire that captured information on FXS-related burden as well as the ABC-Community. Using the ABC-UI, a condition-specific outcome measure derived from the ABC-Community, five utility index categories were created: very low (0.00-0.33); low (0.34-0.66); moderate (0.67-0.77); high (0.78-0.89); and very high (0.90-1.00). Multivariable regression models examined the association between the utility value and nine burden-related outcomes.

RESULTS: Approximately 2% of individuals with FXS were in the very low utility index category, 31% low, 27% moderate, 38% high and 3% very high. The median utility value was 0.74. Women with FXS and adults 18 years and older had higher values. Regression results indicate that individuals with higher utility values were more likely to have fewer specialist visits, use fewer prescription medications, need fewer hours of unpaid caregiving, inflict fewer caregiver injuries and have caregivers with fewer mental health provider visits.

CONCLUSIONS: The ABC-UI appears to function well as condition-specific outcome measure, and as an indicator of health-related quality-of-life and economic burden in individuals with FXS. Among patients with FXS in the US and their caregivers, significant differences in health care resource utilisation and burden exist across health state utility categories.

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Kerr, C., Breheny, K., Lloyd, A., Brazier, J., Bailey, D. B., Jr., Berry-Kravis, E., . . . Petrillo, J. (2015). Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res, 24(2), 305-314. (PDF)

PURPOSE: This study aimed to develop a utility index (the ABC-UI) from the Aberrant Behavior Checklist-Community (ABC-C), for use in quantifying the benefit of emerging treatments for fragile X syndrome (FXS).

METHODS: The ABC-C is a proxy-completed assessment of behaviour and is a widely used measure in FXS. A subset of ABC-C items across seven dimensions was identified to include in health state descriptions. This item reduction process was based on item performance, factor analysis and Rasch analysis performed on an observational study dataset, and consultation with five clinical experts and a methodological expert. Dimensions were combined into health states using an orthogonal design and valued using time trade-off (TTO), with lead-time TTO methods used where TTO indicated a state valued as worse than dead. Preference weights were estimated using mean, individual level, ordinary least squares and random-effects maximum likelihood estimation [RE (MLE)] regression models.

RESULTS: A representative sample of the UK general public (n = 349; mean age 35.8 years, 58.2% female) each valued 12 health states. Mean observed values ranged from 0.92 to 0.16 for best to worst health states. The RE (MLE) model performed best based on number of significant coefficients and mean absolute error of 0.018. Mean utilities predicted by the model covered a similar range to that observed.

CONCLUSIONS: The ABC-UI estimates a wide range of utilities from patient-level FXS ABC-C data, allowing estimation of FXS health-related quality of life impact for economic evaluation from an established FXS clinical trial instrument.

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Martin, G. E., Ausderau, K. K., Raspa, M., Bishop, E., Mallya, U., & Bailey, D. B., Jr. (2013). Therapy service use among individuals with fragile X syndrome: findings from a US parent survey. J Intellect Disabil Res, 57(9), 837-849.

BACKGROUND: Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined.

METHOD: In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined.

RESULTS: Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech-language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age-related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age.

CONCLUSIONS: This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy.

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Bailey, D. B., Jr., Raspa, M., Bishop, E., Olmsted, M., Mallya, U. G., & Berry-Kravis, E. (2012). Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr, 33(1), 62-69.

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.

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Bailey, D. B., Jr., Raspa, M., Wheeler, A., Edwards, A., Bishop, E., Bann, C., . . . Appelbaum, P. S. (2014). Parent ratings of ability to consent for clinical trials in fragile X syndrome. J Empir Res Hum Res Ethics, 9(3), 18-28. (PDF)

Advances in understanding neurobiology and intellectual disabilities have led to clinical trials testing new medications. This study assessed parents' perceptions of the ability of their son or daughter with fragile X syndrome (FXS), an inherited form of intellectual disability, to participate in the consent process for clinical trials. Four hundred twenty-two families participated in a survey that included six items assessing various aspects of the ability to provide consent. A rank ordering of decisional tasks was found. The easiest task was to understand that the medication was different from his or her medical treatment; the most difficult was the ability to understand and weigh the potential benefits and risks of study participation. Factor analysis suggested that despite the range in difficulty, the six items were best summarized by a single decisional ability score. Parents of 29% of males reported that their son was not at all capable of participating, but the remainder exhibited a range of decisional skills. Factors associated with this variability include age and parents' willingness to enroll their child in clinical trials. We conclude that many individuals with FXS appear to be able to participate at some level in the consent or assent process, but will likely need individualized support to maximize effective participation.

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Nash, R., Riley, C., Gilbertson, K., Paramsothy, P., Raspa, M., Wheeler, A. C., Dziuban, E. J., & Peacock, G. (in press). A description of the educational setting among individuals with fragile X syndrome. Am J Intellect Dev Disabil

Children with fragile X syndrome (FXS) display wide-ranging intellectual and behavioral abilities that affect daily life. We describe the educational setting of students with FXS and assess the relationships between school setting, co-occurring conditions, and functional ability using a national survey sample (n=982). The majority of students with FXS in this sample have formal individualized education plans, spend part of the day outside regular classrooms, and receive modifications when in a regular classroom. Males with FXS and certain co-occurring conditions (autism, aggression, and self-injurious behavior) are more likely to spend the entire day outside regular classrooms, compared to males without these co-occurring conditions. Students who spend more time in regular classrooms are more likely to perform functional tasks without help.

Kidd, S. A., Raspa, M., Clark, R., Usrey-Roos, H., Wheeler, A. C., Liu, J. A., ... & Sherman, S. L. (2017). Attendance at fragile X specialty clinics: Facilitators and barriers. Am J Intellect Dev Disabil, 122, 457-475.

The objectives were to describe the demographic characteristics of children with fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or younger, and white non-Hispanic. Using logistic regression models, awareness about FX Clinic services, guardian education, and income (CSN), and child age, family income, and total number of co-occurring conditions (OFXW) were predictors of clinic attendance. Demographic and child characteristics accounted for a large portion of the explained variance. Importantly, symptom severity and parent knowledge about services were independent predictors beyond the demographic characteristics of families.

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Kolacz, J., Raspa, M., Heilman, K. J., & Porges, S. W. (2018). Evaluating sensory processing in fragile X syndrome: Psychometric analysis of the Brain-Body Center Sensory Scales (BBCSS). J Aut Dev Disord, 48, 2187-2202

Individuals with fragile X syndrome (FXS), especially those co-diagnosed with autism spectrum disorder (ASD), face many sensory processing challenges. However, sensory processing measures informed by neurophysiology are lacking. This paper describes the development and psychometric properties of a parent/caregiver report, the Brain-Body Center Sensory Scales (BBCSS), based on Polyvagal Theory. Parents/guardians reported on 333 individuals with FXS, 41% with ASD features. Factor structure using a split-sample exploratory-confirmatory design conformed to neurophysiological predictions. Internal consistency, test-retest, and inter-rater reliability were good to excellent. BBCSS subscales converged with the Sensory Profile and Sensory Experiences Questionnaire. However, data also suggest that BBCSS subscales reflect unique features related to sensory processing. Individuals with FXS and ASD features displayed more sensory challenges on most subscales.

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Nash, R., Riley, C., Gilbertson, K., Paramsothy, P., Raspa, M., Wheeler, A. C., Dziuban, E. J., & Peacock, G. (2019). A description of the educational setting among individuals with fragile X syndrome. Am J Intellect Dev Disabil, 124(1), 57-76.

Children with fragile X syndrome (FXS) display wide-ranging intellectual and behavioral abilities that affect daily life. We describe the educational setting of students with FXS and assess the relationships between school setting, co-occurring conditions, and functional ability using a national survey sample (n=982). The majority of students with FXS in this sample have formal individualized education plans, spend part of the day outside regular classrooms, and receive modifications when in a regular classroom. Males with FXS and certain co-occurring conditions (autism, aggression, and self-injurious behavior) are more likely to spend the entire day outside regular classrooms, compared to males without these co-occurring conditions. Students who spend more time in regular classrooms are more likely to perform functional tasks without help.

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Wheeler, A. C., Wylie, A., Villagomez, A., Bishop, E., & Raspa, M. (2018). Health care for individuals with fragile X Syndrome: Understanding access and quality. Disab Health.

Background Previous research suggests that individuals with intellectual or developmental disabilities (IDD) may experience challenges accessing quality health care.

Objective/Hypothesis This study explored parent perceptions of access and quality of health care services for children with fragile X syndrome (FXS), the leading hereditary cause of intellectual/developmental disabilities.

Methods Nearly 600 primary caregivers of at least one child with FXS completed an online survey on access, barriers, and quality of health care for their family member with FXS (N = 731).

Results In a convenience sample of well-educated and affluent caregivers, the majority did not report experiencing difficulties with access to services. Caregivers of younger children and those with lower family incomes reported greater challenges with health care access. Nearly 40% of caregivers indicated that their child's PCP was not as knowledgeable about FXS-related needs as they would prefer, indicating a possible knowledge gap on the part of providers.

Conclusions These factors represent potential barriers to quality health care for individuals with FXS, with potential lifelong effects ranging from delayed age of diagnosis to difficulty accessing a PCP in adulthood.

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Raspa, M., Franco, V., Bishop, E., Wheeler, A. C., Wylie, A., & Bailey, D. B. (2018). A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. Res Dev Disabil, 78, 1-14.

Background Adaptive behaviors, such as functional academic and daily living skills, are critical for independence in adults with intellectual and developmental disabilities. However, little is known about these skills in fragile X syndrome (FXS), the most common form of inherited intellectual disability.

Aims The purposes of this study were to describe the functional academic and daily living skills of males diagnosed with FXS across different age groups and compare skill attainment by autism status and other common co-occurring conditions.

Methods and procedures We used survey methods to assess parent-reported functional academic and daily living skills in 534 males with FXS. Functional academic skills included time and schedules, money, math, reading, and writing skills. Daily living skills included hygiene, cooking, laundry and housekeeping, transportation, and safety skills.

Outcomes and results Analyses examined functional academic and daily living skills in a cross-sectional sample of males between ages 5 and 67. Differences in skill attainment were found by child age, co-morbid autism status, total number of co-occurring conditions, and respondent education. Functional academic and daily living skills were predictive of community employment and independent living.

Conclusions and implications These data provide important information on the mastery of both foundational and more complex adaptive skills in males with FXS. Both functional academic and daily living skills were predictive of measures of independence above and beyond other child and family characteristics. These findings point to the need to focus interventions to support the attainment of independence in males with FXS.

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Raspa, M., Wylie, A., Wheeler, A.C., Kolacz, J., Edwards, A., Heilman, K., Porges, S.W. (2018) Sensory difficulties in children with an FMR1 premutation. Front Genetics, 9, 351.

Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood. This study sought to examine differences in sensory difficulties in children with an FMR1 premutation compared with children with FXS and typically developing children. We conducted an online survey of 176 parents of affected children (FXS or FMR1 premutation). Most respondents were mothers who are Caucasian (86%), have a 4-year college or graduate degree (68%), and are married (92%). Children ranged in age from 5 to 18, with a mean age of 13.0 years (3.3 SD). Participants completed the BBC Sensory Scales, a 50-item Likert-type scale (1 = Almost Always, 4 = Almost Never) comprised of 8 subscales that assessed auditory processing, visual processing, tactile processing, and eating and feeding behaviors. Mean scores were calculated for the items and each of the subscales. Non-parametric tests examined differences in child and family-level variables. Across all BBCSS subscales, children with an FMR1 premutation displayed more sensory challenges than typically developing children. For six out of the eight subscales, children with the full mutation had the lowest scores indicating more sensory challenges, but this was closely followed by children with an FMR1 premutation. Fragile X status was associated with seven of the eight subscales; children with an FMR1 premutation did not differ from children with FXS on any of the subscales but had more digestive problems than children with no fragile X. Gender, autism status, and family income were also related to sensory sensitivities. In conclusion, these data provide further evidence that some children with an FMR1 premutation experience sensory difficulties that are similar to children with FXS but different than typically developing children.

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Wheeler, A. C., Miller, S., Wylie, A., & Edwards, A. (2018). Mindfulness and acceptance as potential protective factors for mothers of children With fragile X syndrome. Frontiers Pub Health, 6, 316.

Women with an FMR1 premutation may be at increased genetic risk for stress vulnerability. This increased vulnerability, when combined with stressful parenting that can result from raising children with fragile X syndrome (FXS), may result in negative physical and emotional outcomes. Mindfulness and acceptance have been found to be protective factors for parents of children with similar behavioral challenges, but these traits have not previously been explored among mothers with a child with FXS. This study explored the associations of child disability severity with maternal stress, anxiety, depression, and physical health symptoms in 155 biological mothers of children with FXS. Women completed an online survey using standardized measures of stress, mindfulness, and acceptance. General mindfulness, mindfulness in the parenting role, and general acceptance were explored as potential protective factors between the child disability severity and maternal outcomes. Trait mindfulness and acceptance were significant predictors of lower stress, anxiety, depression, and daily health symptoms, while mindful parenting was associated with lower stress, anxiety, and depression. Acceptance was found to attenuate the effects of child severity on maternal stress and depression. These findings suggest that interventions focused on improving mindfulness and acceptance may promote health and well-being for mothers of children with FXS and have important health implications for all individuals with an FMR1 premutation.

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Raspa, M., Wheeler, A. C., & Riley, C. (2017). Public health literature review of fragile X syndrome. Pediatrics, 139(Supplement 3), S153-S171.

OBJECTIVES: The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS: An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS: The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS: The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.

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Wheeler, A., Raspa, M., Hagerman, R., Mailick, M., & Riley, C. (2017). Implications of the FMR1 premutation for children, adolescents, adults, and their families. Pediatrics, 139(Supplement 3), S172-S182.

BACKGROUND AND OBJECTIVES: Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for children and adolescents with an FMR1 premutation, including possible implications into adulthood.

METHODS: A structured electronic literature search was conducted on FMR1 pre- and full mutations, yielding a total of 306 articles examined. Of these, 116 focused primarily on the premutation and are included in this review. RESULTS: Based on the literature review, 5 topic areas are discussed: genetics and epidemiology; phenotypic characteristics of individuals with the premutation; implications for carrier parents of children with FXS; implications for the extended family; and implications for pediatricians.

CONCLUSIONS: Although the premutation phenotype is typically less severe in clinical presentation than in FXS, premutation carriers are much more common and are therefore more likely to be seen in a typical pediatric practice. In addition, there is a wide range of medical, cognitive/developmental, and psychiatric associated features that individuals with a premutation are at increased risk for having, which underscores the importance of awareness on the part of pediatricians in identifying and monitoring premutation carriers and recognizing the impact this identification may have on family members.

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Riley, C., & Wheeler, A. (2017). Assessing the fragile X syndrome newborn screening landscape. Pediatrics, 139(Supplement 3), S207-S215.

BACKGROUND: Fragile X syndrome (FXS) is the most common known inherited form of intellectual disability. Early identification is an important step in linking FXS individuals with appropriate and timely medical and social services. Newborn screening (NBS) is 1 approach that has been used for other conditions to facilitate early identification.

METHODS: A literature review was conducted to identify issues, barriers, challenges, and approaches to addressing challenges related to NBS for FXS. Search terms included: fragile X syndrome, FMR1, newborn screening, screening, and genetic testing. To supplement the literature review, 9 key informant interviews were conducted. Information gathered through these interviews supplemented what was identified in the literature. Information from both the literature review and supplemental interviews was reviewed by 3 researchers who discussed and came to consensus on thematic areas and categorization of issues.

RESULTS: The barriers and challenges related to NBS for FXS identified in the literature and by experts and stakeholders are categorized into 5 thematic areas: public health burden, treatment, timing, screening/testing methodologies, and translating results. Summaries of these issues and barriers are provided, along with potential approaches to addressing them.

CONCLUSIONS: The issues and barriers described in this article highlight limited areas of knowledge that need be addressed to improve our understanding of FXS and the potential benefit of NBS. The landscape of NBS for FXS could be influenced by a series of research findings over time or a larger breakthrough that demonstrates an effective targeted treatment that has to be implemented early in life.

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Okoniewski, K., Wheeler, A., Lee, S., Boyea, B., Raspa, M., Taylor, J., & Bailey, D. (2019). Early Identification of Fragile X Syndrome through Expanded Newborn Screening. Brain sciences, 9(1), 4.

Over the past 20 years, research on fragile X syndrome (FXS) has provided foundational understanding of the complex experiences of affected individuals and their families. Despite this intensive focus, there has been little progress on earlier identification, with the average age of diagnosis being 3 years. For intervention and treatment approaches to have the greatest impact, they need to begin shortly after birth. To access this critical timespan, differential methods of earlier identification need to be considered, with an emerging focus on newborn screening practices. Currently, barriers exist that prevent the inclusion of FXS on standard newborn screening panels. To address these barriers, an innovative program is being implemented in North Carolina to offer voluntary screening for FXS under a research protocol, called Early Check. This program addresses the difficulties observed in prior pilot studies, such as recruitment, enrollment, lab testing, and follow-up. Early Check provides an opportunity for stakeholders and the research community to continue to gain valuable information about the feasibility and greater impact of newborn screening on the FXS population.

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Our Fragile X World  is funded as a research project; therefore, we are not able to provide advice or treatment information about fragile X syndrome. For questions about fragile X syndrome or to find a parent support group in your state, please contact the National Fragile X Foundation at 1-800-688-8765 or by e-mail at natlfx@fragilex.org.

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