Health and population effects of rare gene knockouts in adult humans with related parents

Examining complete gene knockouts within a viable organism can inform on gene function. We sequenced the exomes of 3222 British Pakistani-heritage adults with high parental relatedness, discovering 1111 rare-variant homozygous genotypes with predicted loss of gene function (knockouts) in 781 genes. We observed 13.7% fewer than expected homozygous knockout genotypes, implying an average load of 1.6 recessive-lethal-equivalent LOF variants per adult. Linking genetic data to lifelong health records, knockouts were not associated with clinical consultation or prescription rate. In this dataset we identified a healthy PRDM9 knockout mother, and performed phased genome sequencing on her, her child and controls, which showed meiotic recombination sites localized away from PRDM9-dependent hotspots. Thus, natural LOF variants inform upon essential genetic loci, and demonstrate PRDM9 redundancy in humans.

Parental self-efficacy in managing food allergy and mental health predicts food allergy related quality of life

BACKGROUND: Food allergy has been shown to have a significant impact on quality of life (QoL) and can be difficult to manage in order to avoid potentially life threatening reactions. Parental self-efficacy (confidence) in managing food allergy for their child might explain variations in QoL. This study aimed to examine whether self-efficacy in parents of food allergic children was a good predictor of QoL of the family. METHODS: Parents of children with clinically diagnosed food allergy completed the Food Allergy Self-Efficacy Scale for Parents (FASE-P), the Food Allergy Quality of Life Parental Burden Scale (FAQL-PB), the GHQ-12 (to measure mental health) and the Food Allergy Independent Measure (FAIM), which measures perceived likelihood of a severe allergic reaction. RESULTS: A total of 434 parents took part. Greater parental QoL was significantly related to greater self-efficacy for food allergy management, better mental health, lower perceived likelihood of a severe reaction, older age in parent and child and fewer number of allergies (all p<0.05). Food allergy self-efficacy explained more of the variance in QoL than any other variable and self-efficacy related to management of social activities and precaution and prevention of an allergic reaction appeared to be the most important aspects. CONCLUSIONS: Parental self-efficacy in management of a child's food allergy is important and is associated with better parental QoL. It would be useful to measure self-efficacy at visits to allergy clinic in order to focus support; interventions to improve self-efficacy in parents of food allergic children should be explored. This article is protected by copyright. All rights reserved.

A computer based approach to improve the dietary and physical activity patterns of a diverse group of adolescents

Diet and physical activity patterns have been implicated as major factors in the increasing prevalence of childhood and adolescent obesity. It is estimated that between 16 and 33 percent of children and adolescents in the United States are overweight (CDC, 2000). Moreover, the CDC estimates that less than 50% of adolescents are physically active on a regular basis (CDC, 2003). Interventions must be focused to modify these behaviors. Facilitating the understanding of proper nutrition and need for physical activity among adolescents is the first step in preventing overweight and obesity and delaying the development of chronic diseases later in life (Dwyer, 2000). The purpose of this study was to compare the outcomes of students receiving one of two forms of education (both emphasizing diet and physical activity), to determine whether a computer based intervention (CBI) program using an interactive, animated CD-ROM would elicit a greater behavior change in comparison to a traditional didactic intervention (TDI) program. A convenience sample of 254 high school students aged 14-19 participated in the 6-month program. A pre-test post-test design was used, with follow-up measures taken at three months post-intervention. ^ No change was noted in total fat, saturated fat, fruit/vegetables, or fiber intake for any of the groups. There was also no change in perceived self-efficacy or perceived social support. Results did, however, indicate an increase in nutrition knowledge for both intervention groups (p<0.001). In addition, the CBI group demonstrated more positive and sustained behavior changes throughout the course of the study. These changes included a decrease in BMI (ppre/post<0.001, ppost/follow-up<0.001), number of meals skipped (ppre/post<0.001), and soda consumption (ppre/post=0.003, ppost/follow-up=0.03) and an increase in nutrition knowledge (ppre/post<0.001, ppre/follow-up <0.001), physical activity (ppre/post<0.05, p pre/follow-up<0.01), frequency of label reading (ppre/follow-up <0.0l) and in dairy consumption (ppre/post=0.03). The TDI group did show positive gains in some areas post intervention, however a return to baseline behavior was shown at follow-up. Findings of this study suggest that compared to traditional didactic teaching, computer-based nutrition and health education has greater potential to elicit change in knowledge and behavior as well as promote maintenance of the behavior change over time. ^

Family and group cognitive behavior therapy: Evaluation of treatment outcome and treatment specificity

This dissertation examined the efficacy of family cognitive behavior treatment (FCBT) and group cognitive behavior treatment (GBCT) for reducing anxiety disorders in children and adolescents using several approaches: clinical significant change, equivalence testing, and analyses of variance. It also examined treatment specificity in terms of targeting family/parents (in FCBT) and peers/group (in GCBT) contextual variables using two main approaches: analyses of variance and structural equation modeling (SEM). The sample consisted of 143 children and their parents who presented to the Child Anxiety and Phobia Program housed within the Child and Family Psychosocial Research Center at Florida International University. Diagnostic interviews and questionnaires were administered to assess youth anxiety. Questionnaires were administered to assess child and parent views of family/parents and peers/group contextual variables. In terms of clinical significant change, results indicated that 84.6% of youth in FCBT and 71.2% of youth in GBCT no longer met diagnostic criteria for their primary/targeted anxiety disorder. In addition, results from analyses of variance indicated that FCBT and GCBT were both efficacious in reducing anxiety disorders in youth across both child and parent ratings. Results using both analyses of variance and structural equation modeling also indicated that there was no meaningful treatment specificity between FCBT and GCBT in terms of either family/parents or peers/group contextual variables. That is, child social skills improved in GCBT in which these skills were targeted and in FCBT in which these skills were not targeted; parenting skills improved in FCBT in which these skills were targeted and in GCBT in which these skills were not targeted. Clinical implications and future research recommendations are discussed.

Evaluating the external validity of comorbid disorders in youth using rating scales and behavior observations

To evaluate the theoretical underpinnings of current categorical approaches to classify childhood psychopathological conditions, this dissertation examined whether children with a single diagnosis of an anxiety disorder (ANX only) and children with an anxiety diagnosis comorbid with other diagnoses (i.e., anxiety + anxiety disorder [ANX + ANX], anxiety + depressive disorder [ANX + DEP], and anxiety + disruptive disorder [ANX + EXT]) could be differentiated using external validation criteria of clinical phenomenology (i.e., levels of anxiety, depression, and internalizing, externalizing and total behavior problems). This study further examined whether the four groups could be differentiated in terms of their interaction patterns with their parents and peers, respectively. The sample consisted of 129 youth and their parents who presented to the Child Anxiety and Phobia Program (CAPP) housed within the Child and Family Psychosocial Research Center at Florida International University, Miami. Youth were between the ages of 8 and 14 years old. A battery of questionnaires was used to assess participants' clinical presentation in terms of levels of anxiety, depression, and internalizing and externalizing symptoms. Family and peer interaction were evaluated through rating scales and through behavior observation tasks. Statistics based on the parameter estimates of the structured equation models indicated that all the comorbid groups were significantly different from the pure anxiety disorder group when it came to depression indices of clinical phenomenology. Further, significant differences appeared mainly in terms of the ANX + DEP comorbid group relative to the other comorbid groups. In terms of Parent-child interaction the ANX + EXT and the ANX + DEP comorbid groups were differentiated from the pure anxiety disorder and ANX + ANX comorbid group when it came to the appraisal of the parent/child relationship by the parent, and the acceptance subscale according to the mother report. In terms of peer-child interaction the ANX + EXT and the ANX + DEP comorbid groups were statistically significantly different from the pure anxiety disorder only when it came to the positive interactions and the social skills as rated by mother. Limitations and future research recommendations are discussed.

Parental involvement and group cognitive behavioral treatment for anxiety disorders in children and adolescents: Treatment specificity and mediation effects of parent and peer variables

Phobic and anxiety disorders are one of the most common, if not the most common and debilitating psychopathological conditions found among children and adolescents. As a result, a treatment research literature has accumulated showing the efficacy of cognitive behavioral treatment (CBT) for reducing anxiety disorders in youth. This dissertation study compared a CBT with parent and child (i.e., PCBT) and child group CBT (i.e., GCBT). These two treatment approaches were compared due to the recognition that a child’s context has an effect on the development, course, and outcome of childhood psychopathology and functional status. The specific aims of this dissertation were to examine treatment specificity and mediation effects of parent and peer contextual variables. The sample consisted of 183 youth and their mothers. Research questions were analyzed using analysis of variance for treatment outcome, and structural equation modeling, accounting for clustering effects, for treatment specificity and mediation effects. Results indicated that both PCBT and GCBT produced positive treatment outcomes across all indices of change (i.e., clinically significant improvement, anxiety symptom reduction) and across all informants (i.e., youths and parents) with no significant differences between treatment conditions. Results also showed partial treatment specific effects of positive peer relationships in GCBT. PCBT also showed partial treatment specific effects of parental psychological control. Mediation effects were only observed in GCBT; positive peer interactions mediated treatment response. The results support the use CBT with parents and peers for treating childhood anxiety. The findings’ implications are further discussed in terms of the need to conduct further meditational treatment outcome designs in order to continue to advance theory and research in child and anxiety treatment.

The longitudinal influence of physical activity on adolescent alcohol use

The purpose of this research was to explore the influence of physical activity on depressive symptomatology and adolescent alcohol use during an underexplored transition from middle school to high school. The study initiative is supported by the fact that research has shown a unique and simultaneous decrease in physical activity (CDC, 2010), increase in depressive symptomatology (SAMHSA, 2010) and increase in alcohol use (USDHHS, 2011) during middle adolescence. A risk and resilience framework was used in efforts to conceptualize how these variables may be inter-related. Data from waves I and II of the National Longitudinal Study of Adolescent Health (Add Health, Bearman et al., 1997; Udry, 1997) was used (N = 2,054; aged 13–15 years). The sample was ethnically and racially diverse (58.2% White, 24% African American, 11.7% Hispanic, and 6.1% other). Structural equation models were developed to test the potential influence physical activity has on adolescent alcohol use (e.g., frequency of alcohol use and binge alcohol use) and whether any of the relationship was mediated by depressive symptomatology or varied as a function of gender. Results demonstrated that there was a significant influence of structured physical activity (e.g., sports) on adolescent alcohol use. However, contrary to the proposed hypothesis, engaging in structured physical activity appeared to contribute to greater binge drinking among adolescents. Instead of demonstrating a protective feature, the findings suggest that engaging in structured physical activity places adolescents at risk for binge drinking. Furthermore, no significant relationships, positive or negative, were found for the influence of physical activity (structured and unstructured) on frequency of alcohol use. The findings regarding mediation revealed binge drinking as a mediator between physical activity (structured) and depressive symptomatology. These findings provide support for research, practice, and policy initiatives focused on developing a more comprehensive understanding of alcohol use drinking behaviors, physical activity involvement, and depressive symptomatology among adolescents, which this study demonstrates are all associated with one another. Results represent an initial step toward evaluating these relationships at a much younger age.

Group cognitive -behavioral therapy for heterogeneous anxiety disorders in children and adolescents: A multiple baseline study

This study investigated the efficacy of Group Cognitive-Behavioral Therapy (GCBT) in the treatment of heterogeneous anxiety disorders in children. A partially nonconcurrent multiple baseline across groups design was used to assess the effects of the treatment on 12 clinically referred children and adolescents between 6 and 16 years of age who met DSM-IV criteria for an anxiety disorder. Targeted diagnoses included Obsessive Compulsive Disorder, Simple Phobia, Separation Anxiety Disorder, Social Phobia, and Generalized Anxiety Disorder, with three of the children also presenting with school refusal behavior. Duration of baseline for each of the three groups varied and ran for one, two, or three weeks. Dependent measures included diagnostic status, child and parent-completed reports, and daily child and parent ratings of child anxiety severity. Results indicated that GCBT was efficacious in reducing anxious symptoms in children and adolescents treated in diagnostically heterogeneous groups, and that gains were generally maintained at 6 and 12 month follow-ups. Findings are discussed in terms of their theoretical and practical implications for the efficient treatment of children and adolescents with anxiety disorders. ^

The relationship between cognitive ability, the big five, task and contextual performance: a meta-analysis

For years, researchers and human resources specialists have been searching for predictors of performance as well as for relevant performance dimensions (Barrick & Mount, 1991; Borman & Motowidlo, 1993; Campbell, 1990; Viswesvaran et al., 1996). In 1993, Borman and Motowidlo provided a framework by which traditional predictors such as cognitive ability and the Big Five personality factors predicted two different facets of performance: 1) task performance and 2) contextual performance. A meta-analysis was conducted to assess the validity of this model as well as that of other modified models. The relationships between predictors such as cognitive ability and personality variables and the two outcome variables were assessed. It was determined that even though the two facets of performance may be conceptually different, empirically they overlapped substantially (p= .75). Finally, results show that there is some evidence for cognitive ability as a predictor of both task and contextual performance and conscientiousness as a predictor of both task and contextual performance. The possible mediation of predictor-- criterion relationships was also assessed. The relationship between cognitive ability and contextual performance vanished when task performance was controlled.

As raízes históricas da política criminal na legislação e nas práticas de atendimento ao adolescente em conflito com a lei

This thesis investigates the historical influence of the criminal policy in the context that shapes the first specific law for children and adolescents in Brazil, the 1927 Children's Code, a standard that inaugurates the conceptual scission between children and "minor" and their different treatment by the State. The study addresses the demand for order in the context of changes in the working world in the transition from the slave system to the capitalist mode of production, and the corresponding disciplinary and punitive control mechanisms directed to the segment of childhood and adolescence. The theoretical route proposes a questioning of the political construction of law and justice, as well as the conformation of the punitive techniques, and the construction of the stereotype of the "delinquent", prime target of the criminal policy, focusing on the process of criminalization of the segment in question through the confrontation of the Critical perspective with the approaches of Classical and Positive schools. This research shows the imposition of a bourgeois morality that obscures the social conflict attributing it to people isolated by the criminalization of their conduct; and points out that the historical forms of selective social control were greatly influenced by psychiatry and psychology, either by the elaboration of the image of the "delinquent" or by the expected performance of custodial institutions. Finally, the developments and the permanence of the historical roots of the criminal policy are problematized, relating them to the difficulties currently encountered in the consolidation of the legal garantism paradigm proposed by the Children and Adolescent Statute.

As raízes históricas da política criminal na legislação e nas práticas de atendimento ao adolescente em conflito com a lei

This thesis investigates the historical influence of the criminal policy in the context that shapes the first specific law for children and adolescents in Brazil, the 1927 Children's Code, a standard that inaugurates the conceptual scission between children and "minor" and their different treatment by the State. The study addresses the demand for order in the context of changes in the working world in the transition from the slave system to the capitalist mode of production, and the corresponding disciplinary and punitive control mechanisms directed to the segment of childhood and adolescence. The theoretical route proposes a questioning of the political construction of law and justice, as well as the conformation of the punitive techniques, and the construction of the stereotype of the "delinquent", prime target of the criminal policy, focusing on the process of criminalization of the segment in question through the confrontation of the Critical perspective with the approaches of Classical and Positive schools. This research shows the imposition of a bourgeois morality that obscures the social conflict attributing it to people isolated by the criminalization of their conduct; and points out that the historical forms of selective social control were greatly influenced by psychiatry and psychology, either by the elaboration of the image of the "delinquent" or by the expected performance of custodial institutions. Finally, the developments and the permanence of the historical roots of the criminal policy are problematized, relating them to the difficulties currently encountered in the consolidation of the legal garantism paradigm proposed by the Children and Adolescent Statute.

Criminally Involved Parents Who Misuse Substances and Children’s Odds of Being Arrested as a Young Adult: Do Drug Treatment Courts Mitigate the Risk?

© 2016, Springer Science+Business Media New York.This paper examined (1) the association between parents who are convicted of a substance-related offense and their children’s probability of being arrested as a young adult and (2) whether or not parental participation in an adult drug treatment court program mitigated this risk. The analysis relied on state administrative data from North Carolina courts (2005–2013) and from birth records (1988–2003). The dependent variable was the probability that a child was arrested as a young adult (16–21). Logistic regression was used to compare groups and models accounted for the clustering of multiple children with the same mother. Findings revealed that children whose parents were convicted on either a substance-related charge on a non-substance-related charge had twice the odds of being arrested as young adult, relative to children whose parents had not been observed having a conviction. While a quarter of children whose parents participated in a drug treatment court program were arrested as young adults, parental completion this program did not reduce this risk. In conclusion, children whose parents were convicted had an increased risk of being arrested as young adults, irrespective of whether or not the conviction was on a substance-related charge. However, drug treatment courts did not reduce this risk. Reducing intergenerational links in the probability of arrest remains a societal challenge.

Parental Bereavement: Looking Beyond Grief - Challenges and Health

For most parents there is no imaginable event more devastating than the death of their child. Nevertheless, while bereaved parents grieve they are also expected to carry on with their life. The day-to-day activities that were once routine for these parents may now be challenging due to the emotional turmoil they are experiencing. To date parental bereavement has been described as complex, intense, individualized, and life-long and their grief responses are interwoven with their daily activities, but the nature of their daily life challenges are not known.

This dissertation highlights the significance of how parents respond to their bereavement challenges because bereaved parents have higher morbidity and mortality rates than non-bereaved parents or adults who have lost their spouse or parents. Many bereaved parents in their daily routines include activities that allow them to maintain a relationship with their deceased child. These behaviors have been described as “continuing bonds”, but with this dissertation the continuing bonds concept is analyzed to provide a clear conceptual definition, which can be used for future research.

Using the Adaptive Leadership Framework as the theoretical lens and a mixed method, multiple case study design, the primary study in this dissertation aims to provides knowledge about the challenges parents face in the first six months following the death of their child, the work they use to meet these challenges, and the co-occurrence of the challenges, and work with their health status. Bereaved parents challenges are unique to their individual circumstances, complex, interrelated and adaptive, as they have no easy fix. Their challenges were pertaining to their everyday life without their child and classified as challenges related to: a) grief, b) continuing bonds, c) life demands, d) health concerns, f) interactions, and g) gaps in the health care system. Parents intuitively responded to the challenges and attempted to care for themselves. However, the role of the healthcare system to assist bereaved parents during this stressful time so that their health is not negatively impacted was also recognized. This study provides a foundation about parental bereavement challenges and related work that can lead to the development and testing of interventions that are tailored to address the challenges with a goal of improving bereaved parents health outcomes.

Optimal Scaffolding Methods for Students with Emotional and Behavioural Disorders

Optimal assistance of an adult, adapted to the current level of understanding of the student (scaffolding), can help students with emotional and behavioural problems (EBD) to demonstrate a similar level of understanding on scientific tasks, compared to students from regular education (Van Der Steen, Steenbeek, Wielinski & Van Geert, 2012). In the present study the optimal scaffolding techniques for EBD students were investigated, as well as how these differ from scaffolding techniques used for regular students. A researcher visited five EBD students and five regular students (aged three to six years old) three times in a 1,5 years period. Student and researcher worked together on scientific tasks about gravity and air pressure, while the researcher asked questions. An adaptive protocol was used, so that all children were asked the same basic questions about the mechanisms of the task. Beside this, the researcher was also allowed to ask follow-up questions and use scaffolding methods when these seemed necessary. We found a bigger amount of scaffolding in the group of EBD students compared to the regular students. The scaffolding techniques that were used also differed between the two groups. For EBD students, we saw more scaffolding strategies focused on keeping the student committed to the task, and less strategies aimed at the relationship between the child and the researcher. Furthermore, in the group of regular students we saw a decreasing trend in the amount of scaffolding over the course of three visits. This trend was not visible for the EBD students. These results highlight the importance for using different scaffolding strategies when working with EBD students compared to regular students. Future research can give a clearer image of the differences in scaffolding needs between these two groups.

Home on a care order: who the children are and what the care order is for

Compared to children in other placements, there is much less known about the characteristics and needs of children in the UK who are returned to their birth parents with a care order still in place. That is in spite of evidence to suggest they face more difficulties than young people in other placements. Based on a 2009 census of looked after children in Northern Ireland, just under 10% (n = 193) were found to be living at home under a care order. Case file reviews were conducted for a quarter of these young people (n = 47) to generate descriptive statistics showing a very diverse population. That was followed by semi-structured interviews with members of eight families (ten children and eight birth parent/s), providing transcripts for thematic analysis. Nearly half of the young people whose case files were reviewed had experienced at least one home placement breakdown, but nearly two thirds had a stable last home placement. Care orders appeared to serve two functions: to give legal authority to social services for the monitoring of placements, and to facilitate family access to family support services. Replacing some care orders with supervision orders might better align legal status and actual function.