Child protective services during COVID-19 and doubly marginalized children: International perspectives.

BACKGROUND: Alongside deficits in children's wellbeing, the COVID-19 pandemic has created an elevated risk for child maltreatment and challenges for child protective services worldwide. Therefore, some children might be doubly marginalized, as prior inequalities become exacerbated and new risk factors arise. OBJECTIVE: To provide initial insight into international researchers' identification of children who might have been overlooked or excluded from services during the pandemic. PARTICIPANTS AND SETTING: This study was part of an international collaboration involving researchers from Brazil, Canada, Colombia, Israel, South Africa, Uganda, the UK and the USA. Researchers from each country provided a written narrative in response to the three research questions in focus, which integrated the available data from their countries. METHOD: Three main questions were explored: 1) Who are the children that were doubly marginalized? 2) What possible mechanisms may be at the root? and 3) In what ways were children doubly marginalized? The international scholars provided information regarding the three questions. A thematic analysis was employed using the intersectional theoretical framework to highlight the impact of children's various identities. RESULTS: The analysis yielded three domains: (1) five categories of doubly marginalized children at increased risk of maltreatment, (2) mechanisms of neglect consisting of unplanned, discriminatory and inadequate actions, and (3) children were doubly marginalized through exclusion in policy and practice and the challenges faced by belonging to vulnerable groups. CONCLUSION: The COVID-19 pandemic can be used as a case study to illustrate the protection of children from maltreatment during worldwide crises. Findings generated the understanding that child protective systems worldwide must adhere to an intersectionality framework to protect all children and promote quality child protection services.

Health care for individuals with fragile X Syndrome: Understanding access and quality.

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.

A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism.

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.

Toward Preventing Post-Traumatic Stress Disorder: Development and Testing of a Pilot Predeployment Stress Inoculation Training Program.

The objective of this pilot study was to design, develop, and evaluate a predeployment stress inoculation training (PRESIT) preventive intervention to enable deploying personnel to cope better with combat-related stressors and mitigate the negative effects of trauma exposure. The PRESIT program consisted of three predeployment training modules: (1) educational materials on combat and operational stress control, (2) coping skills training involving focused and relaxation breathing exercises with biofeedback, and (3) exposure to a video multimedia stressor environment to practice knowledge and skills learned in the first two modules. Heart rate variability assessed the degree to which a subset of participants learned the coping skills. With a cluster randomized design, data from 351 Marines randomized into PRESIT and control groups were collected at predeployment and from 259 of these who responded to surveys on return from deployment. Findings showed that the PRESIT group reduced their physiological arousal through increased respiratory sinus arrhythmia during and after breathing training relative to controls. Logistic regression, corrected for clustering at the platoon level, examined group effects on post-traumatic stress disorder (PTSD) as measured by the Post-traumatic Stress Checklist after controlling for relevant covariates. Results showed that PRESIT protected against PTSD among Marines without baseline mental health problems. Although limited by a small number of participants who screened positive for PTSD, this study supports the benefits of PRESIT as a potential preventive strategy in the U.S. military personnel.

Family Communication and Cascade Testing for Fragile X Syndrome.

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.

Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis.

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.

DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome.

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.

Annual healthcare spending attributable to cigarette smoking: an update.

BACKGROUND: Fifty years after the first Surgeon General's report, tobacco use remains the nation's leading preventable cause of death and disease, despite declines in adult cigarette smoking prevalence. Smoking-attributable healthcare spending is an important part of overall smoking-attributable costs in the U.S. PURPOSE: To update annual smoking-attributable healthcare spending in the U.S. and provide smoking-attributable healthcare spending estimates by payer (e.g., Medicare, Medicaid, private insurance) or type of medical services. METHODS: Analyses used data from the 2006-2010 Medical Expenditure Panel Survey linked to the 2004-2009 National Health Interview Survey. Estimates from two-part models were combined to predict the share of annual healthcare spending that could be attributable to cigarette smoking. The analysis was conducted in 2013. RESULTS: By 2010, 8.7% (95% CI=6.8%, 11.2%) of annual healthcare spending in the U.S. could be attributed to cigarette smoking, amounting to as much as $170 billion per year. More than 60% of the attributable spending was paid by public programs, including Medicare, other federally sponsored programs, or Medicaid. CONCLUSIONS: These findings indicate that comprehensive tobacco control programs and policies are still needed to continue progress toward ending the tobacco epidemic in the U.S. 50 years after the release of the first Surgeon General's report on smoking and health.

Parent ratings of ability to consent for clinical trials in fragile X syndrome.

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.

Health and reproductive experiences of women with an FMR1 premutation with and without fragile X premature ovarian insufficiency.

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.

A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.

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.

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.

Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome.

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.

Trends in tobacco smoke exposure and blood lead levels among youths and adults in the United States: the National Health and Nutrition Examination Survey, 1999-2008.

INTRODUCTION: Tobacco smoke is a source of exposure to thousands of toxic chemicals including lead, a chemical of longstanding public health concern. We assessed trends in blood lead levels in youths and adults with cotinine-verified tobacco smoke exposure by using 10 years of data from the National Health and Nutrition Examination Survey. METHODS: Geometric mean levels of blood lead are presented for increasing levels of tobacco smoke exposure. Regression models for lead included age, race/ethnicity, poverty, survey year, sex, age of home, birth country, and, for adults, alcohol consumption. Lead levels were evaluated for smokers and nonsmokers on the basis of age of residence and occupation. RESULTS: Positive trend tests indicate that a linear relationship exists between smoke exposure and blood lead levels in youths and adults and that secondhand smoke exposure contributes to blood lead levels above the level caused by smoking. CONCLUSION: Youths with secondhand smoke exposure had blood lead levels suggestive of the potential for adverse cognitive outcomes. Despite remediation efforts in housing and the environment and declining smoking rates and secondhand smoke exposure in the United States, tobacco smoke continues to be a substantial source of exposure to lead in vulnerable populations and the population in general.

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

PURPOSE: To determine whether a brochure based on principles of informed decision making improved attention to study materials or altered decisions made by parents invited to participate in a fragile X syndrome newborn screening study. METHODS: A total of 1,323 families were invited to participate in a newborn screening study to identify infants with fragile X syndrome as well as premutation carrier infants. Of these families, 716 received the original project brochure and 607 were given a new decision aid brochure. RESULTS: Families were more likely to look at the new decision aid and mothers were more likely to read it completely, but the proportion of mothers who read the entire decision aid was only 14%. Families were more likely to rate the decision aid as very helpful. Consistent with informed decision making theory and research, participants receiving the decision aid brochure were less likely to agree to participate. CONCLUSION: The decision aid increased attention to and perceived helpfulness of educational information about the study, but most families did not read it completely. The study suggests that even well-designed study materials are not fully reviewed in the context of in-hospital postpartum study recruitment and may need to be accompanied by a research recruiter to obtain informed consent.

Design and evaluation of a decision aid for inviting parents to participate in a fragile X newborn screening pilot study.

The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.

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 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.

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.

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.

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.