Caregiver Preferences for the Treatment of Males with Fragile X Syndrome (original) (raw)
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Brain Sciences
To date, there has been limited research on the primary concerns and treatment priorities for individuals with fragile X syndrome (FXS) and their families. The National Fragile X Foundation in collaboration with clinical investigators from industry and academia constructed a survey to investigate the main symptoms, daily living challenges, family impact, and treatment priorities for individuals with FXS and their families, which was then distributed to a large mailing list. The survey included both structured questions focused on ranking difficulties as well as qualitative analysis of open-ended questions. It was completed by 467 participants, including 439 family members or caretakers (family members/caretakers) of someone with FXS, 20 professionals who work with a person with FXS, and 8 individuals with FXS. Respondents indicated three main general areas of concern: Anxiety, behavioral problems, and learning difficulties. Important differences were noted, based on the sex and age ...
Journal of Autism and Developmental Disorders, 2019
Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. Concerns and care needs were categorized using the International Classification of Functioning, Disability, and Health. Results indicated concerns on 14 domains for males, and 13 domains for females, including physical, psychological and socio-economical issues. In both groups parents reported high stress levels and a lack of knowledge of FXS in adult care providers. This study revealed concerns on various domains, requiring gender-specific, multidisciplinary transitional care and adult follow-up for patients with FXS.
Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome
Brain Sciences
Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. Thus, HRQoL may be an important outcome measure following intervention. However, it is yet not known whether HRQoL concerns relate to observed impairments in FXS. In the present study, we examined the nature and degree of association between HRQoL and established measures of functioning in FXS using the Parent Report for Children version of the PedsQL 4.0 Generic Core Scales and Cognitive Functioning Scale. We observed significant relationships between HRQoL a nd measures of adaptive behavior, maladaptive behaviors, and social functioning. The present study has implications for treatment outcomes for clinical trials in FXS.
Impact of Fragile X Syndrome on Their Families
Psicología Educativa, 2020
The aim of the present study is to describe the behavioral and emotional disturbances in the Fragile X Syndrome (FXS) and to analize the impact of having a member with FXS on different aspects of family functioning. A sample of 79 parents with a member with FXS and 80 parents with a member with typical development participated in the study. Results showed that between 17% and 66% of children and adolescents with FXS displayed significant behavioral and emotional disturbances and fewer prosocial behaviors. In addition, after controlling for behavioral and emotional difficulties, our results showed that families affected by FXS experienced a more negative impact on feelings about parenting, finances, siblings, and the degree of difficulty of living with a child or adolescent with FXS, and greater family adaptability and cohesion than the comparison group. In conclusion, our results highlight that it is important to consider these differences in clinical practice when supporting and counselling families affected by FXS.
Raising Fragile: The Experiences & Perspectives of the Families of Male Fragile X Individuals
2013
approved: ________________________________________________________________________ Darlene F. Russ-Eft The purpose of this qualitative research study was to address the experiences and perspectives of those who have grown up with and raised males who have Fragile X syndrome. The methods used in the study included surveying and interviewing the family members of adult individuals with Fragile X, reviewing resources for Fragile individuals entering adulthood, and researching existing data and the memoirs of other families who have experienced the fragile cycle and lifestyle. This study resulted in many families coming forward, expressing their thanks for attempting to identify resources for fragile families, as well as expressing interest in participating in the study. Findings resulted in shared memories of joyous times spent with the "proverbial child" of the households interviewed, as well as reflections upon difficult experiences laced with seizures, fits of rage, and lo...
Behavioral Intervention for Problem Behavior in Children With Fragile X Syndrome
American Journal on Intellectual and Developmental Disabilities, 2011
Parents and professionals typically report problem behavior as a significant concern for children with fragile X syndrome. In the present study, the authors explored whether behaviorally based interventions would result in a reduction in problem behavior and an improvement in quality of life for 3 children with fragile X syndrome and their families. A multiple baseline design was used to demonstrate intervention effects for specific high-priority contexts (i.e., bedtime, running errands, and toileting). A multicomponent intervention plan was developed to teach the parents and child to effectively cope with the particular context. After intervention, there were substantial improvements in problem behavior and family quality of life within the given contexts. Results of this study demonstrated the effectiveness of behavioral intervention for children with fragile X syndrome.
Trajectory of adaptive behavior in males with fragile X syndrome
Journal of Autism and Developmental Disorders, 1993
Adaptive behavior in males with fragile X syndrome was longitudinally examined in 17 subjects, ages" 1 to 17. Subjects received adaptive behavior evaluations on two occasions within one of three age periods. All domains of the Vineland Adaptive Behavior Scales increased fi'om youngest to oldest age groups, yet older subjects" (ages" 10 to 17) showed significant declines in their adaptive behavior scores" from first to second testing: A relative strength in Daily Living Skills and weakness in Socialization emerged only among older subjects'. There was a significant relationship between adaptive behavior and mental age scores in all subjects. Discussion emphasized the parallels between declines in 1Q and adaptive behavior as well as the need for further research on adaptive skills" in young adults with fragile X syndrome.
Medication Utilization for Targeted Symptoms in Children and Adults With Fragile X Syndrome
Journal of Developmental & Behavioral Pediatrics, 2012
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.
Brain Sciences
Fragile X Syndrome is the most known inherited form of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene located on X chromosomes leading to gene silencing. Despite clear knowledge of the cognitive-behavioral phenotype of FXS and the necessity of tailored interventions, empirical research on the effectiveness of behavioral treatments among patients with FXS is still lacking, with studies on adolescents and young adults even more insufficient. Here we present “Corposamente”, a combined psychosocial–neuropsychological intervention conducted with a group of ten adolescents/young adults with FXS, who are non-ASD and without significant behavioral problems. In total, 20 sessions were performed, alternating between online and face-to-face meetings. At the end of the intervention, participants, family members and participants’ educators anonymously completed a survey that was designed around key areas of imp...
A 15-item checklist for screening mentally retarded males for the fragile X syndrome
Clinical Genetics, 2008
A 15-item checklist, including physical and behavioral features frequently observed in fragile X syndrome, was used in a prospective study of 188 mentally retarded males in order to identify males at risk for this syndrome. Of the 188 males, 19 were found to have the fragile X syndrome, while the remaining 169 males had no recognizable cause of their mental retardation, including normal chromosomes. Significant differences (p < 0.01) were found between mentally retarded males with and without the fragile X syndrome with increased hyperactivity; shorter attention span; more tactile defensiveness, hand-flapping, perseverative speech, and hyperextensibility; large ears and testes; higher frequency of simian creases or Sydney lines and plantar creases; and more positive family histories of mental retardation in the fragile X syndrome males. Multiple regression and discriminant analyses of the 188 males indicated several physical features were useful predictors for inclusion in the fragile X syndrome group. An overall correct classification rate of 93% was achieved based on 6 variables (plantar crease, simian crease, hypertlexibility, large testes, large ears, and a positive family history of mental retardation) that were entered into the discriminant equation. Therefore, our experience with a 15-item checklist suggests the potential of screening for the fragile X syndrome in mentally retarded males and that 6 of the I5 variables were particularly good predictors of this syndrome.