Ellen Bishop

No Change in the Age of Diagnosis for Fragile X Syndrome: Findings From a National Parent Survey

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 ∼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.

Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

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.

Self-Injurious Behavior and Fragile X Syndrome: Findings From the National Fragile X Survey

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.

Exploring the Adult Life of Men and Women with Fragile X Syndrome: Results from a National Survey.

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.

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.

Health and economic consequences of fragile X syndrome for caregivers.

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 sons 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.

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.

Caregiver opinions about fragile X population screening.

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.Genet Med 2012:14(1):115–121.

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.

Modeling Family Adaptation to Fragile X Syndrome

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.