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Many psychiatric disorders show gender differences in prevalence. Recent studies suggest that female patients diagnosed with anxiety and depression carry more genetic risks related to attention-deficit hyperactivity disorder (ADHD) compared with affected males.
In this register-based study, we aimed to test whether female patients who received clinical diagnoses of anxiety, depressive, bipolar and eating disorders are at higher familial risk for ADHD and other neurodevelopmental disorders, compared with diagnosed male patients.
We analysed data from a record-linkage of several Swedish national registers, including 151 025 sibling pairs from 103 941 unique index individuals diagnosed with anxiety, depressive, bipolar or eating disorders, as well as data from 646 948 cousin pairs. We compared the likelihood of having a relative diagnosed with ADHD/neurodevelopmental disorders in index males and females.
Female patients with anxiety disorders were more likely than affected males to have a brother with ADHD (odd ratio (OR) = 1.13, 95% CI 1.05–1.22). Results for broader neurodevelopmental disorders were similar and were driven by ADHD diagnoses. Follow-up analyses revealed similar point estimates for several categories of anxiety disorders, with the strongest effect observed for agoraphobia (OR = 1.64, 95% CI 1.12–2.39). No significant associations were found in individuals with depressive, bipolar or eating disorders, or in cousins.
These results provide modest support for the possibility that familial/genetic risks for ADHD may show gender-specific phenotypic expression. Alternatively, there could be gender-specific biases in diagnoses of anxiety and ADHD. These factors could play a small role in the observed gender differences in prevalence of ADHD and anxiety.
Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.
The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.
The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.
Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.
OBJECTIVES/GOALS: Autism spectrum disorder (ASD) is characterized by difficulties in communication and social interaction as well as restricted and repetitive behaviors. Sleep problems are a common concern in children with ASD that can persist into adulthood. This study aims to further explore sleep in ASD without intellectual disability (ASD w/o ID). METHODS/STUDY POPULATION: We recruited individuals of both sexes with ASD w/o ID (probands) and relatives as part of the Autism Spectrum Program of Excellence (ASPE) at the University of Pennsylvania. Actimetry data were collected via a wrist-worn tri-axial accelerometer for 21 days. Data from 212 participants were considered. We analyzed sleep data using the algorithms GGIR, ChronoSapiens, and PennZzz. The sleep traits of proband and sibling pairs were compared using paired t-test or Wilcoxon signed-rank test. We used the Social Responsiveness Scale, Second Edition (SRS-2) to assess social impairment and restricted/repetitive traits. We compared SRS-2 scores to sleep traits using partial Spearman or Pearson correlations adjusting for age (171 participants). RESULTS/ANTICIPATED RESULTS: Probands demonstrated later sleep onset (p = 0.03), decreased M10 average (10-hour period of highest activity/day; p = 0.006), decreased relative amplitude (measure of rest-activity rhythm; p <0.001), and decreased total daytime activity (p = 0.005) compared to siblings. Regarding social function and restricted/repetitive traits, adult males showed an inverse correlation between SRS-2 total score and sleep efficiency (r = −0.2, p = 0.04) and a positive correlation between SRS-2 total score and intradaily variability (r = 0.3, p = 0.02). Adult females showed an inverse correlation between SRS-2 total score and M10 average (r = −0.3, p = 0.02) and between SRS-2 total score and relative amplitude (self-report r = −0.4, p = 0.001; informant r = −0.3, p = 0.005). DISCUSSION/SIGNIFICANCE OF IMPACT: This study focuses on the analysis of sleep traits in ASD including the relationship between social function and sleep. Thus far, the most robust findings are decreased daytime activity and relative amplitude in individuals with ASD w/o ID compared to siblings. We have also shown that ASD social impairment may be related to sleep dysfunction.
Nitrogen-fixing plants provide critical nitrogen inputs that support the high productivity of tropical forests, but our understanding of the ecology of nitrogen fixers – and especially their interactions with herbivores – remains incomplete. Herbivores may interact differently with nitrogen fixers vs. non-fixers due to differences in leaf nitrogen content and herbivore defence strategies. To examine these potential differences, our study compared leaf carbon, nitrogen, toughness, chemical defence and herbivory for four nitrogen-fixing tree species (Inga oerstediana, Inga sapindoides, Inga thibaudiana and Pentaclethra macroloba) and three non-fixing species (Anaxagorea crassipetala, Casearia arborea and Dipteryx panamensis) in a lowland tropical rain forest. Leaf chemical defence, not nutritional content, was the primary driver of herbivore damage among our species. Even though nitrogen fixers exhibited 21.1% higher leaf nitrogen content, 20.1% lower C:N ratios and 15.4% lower leaf toughness than non-fixers, we found no differences in herbivory or chemical defence between these two plant groups. Our results do not support the common hypotheses that nitrogen fixers experience preferential herbivory or that they produce more nitrogen-rich defensive compounds than non-fixers. Rather, these findings suggest strong species-specific differences in plant–herbivore relationships among both nitrogen-fixing and non-fixing tropical trees.
In March 2017, the New Jersey Department of Health received reports of 3 patients who developed septic arthritis after receiving intra-articular injections for osteoarthritis knee pain at the same private outpatient facility in New Jersey. The risk of septic arthritis resulting from intra-articular injection is low. However, outbreaks of septic arthritis associated with unsafe injection practices in outpatient settings have been reported.
An infection prevention assessment of the implicated facility’s practices was conducted because of the ongoing risk to public health. The assessment included an environmental inspection of the facility, staff interviews, infection prevention practice observations, and a medical record and office document review. A call for cases was disseminated to healthcare providers in New Jersey to identify patients treated at the facility who developed septic arthritis after receiving intra-articular injections.
We identified 41 patients with septic arthritis associated with intra-articular injections. Cultures of synovial fluid or tissue from 15 of these 41 case patients (37%) recovered bacteria consistent with oral flora. The infection prevention assessment of facility practices identified multiple breaches of recommended infection prevention practices, including inadequate hand hygiene, unsafe injection practices, and poor cleaning and disinfection practices. No additional cases were identified after infection prevention recommendations were implemented by the facility.
Aseptic technique is imperative when handling, preparing, and administering injectable medications to prevent microbial contamination.
This investigation highlights the importance of adhering to infection prevention recommendations. All healthcare personnel who prepare, handle, and administer injectable medications should be trained in infection prevention and safe injection practices.
Ecosystem services typically benefit multiple groups of people. However, natural resource management decisions aiming to secure ecosystem services for one beneficiary group rarely consider potential consequences for others. Here, we examine records of moose hunting in Vermont, USA, a recreational ecosystem service with at least two beneficiary groups: hunters, who benefit from recreational experiences and moose meat, and residents, who live in hunting areas and benefit from hunters’ expenditures. We ask how the allocation of hunting permits has affected (1) the total number of hunters and therefore the benefits enjoyed by this group, (2) the benefits residents received, and (3) the spatial distribution of benefits for each group. We found that changes in the allocation of permits had heterogeneous effects on the beneficiaries. For example, increasing the number of hunting permits increased the total number of hunters, but not necessarily the number of residents who potentially benefit. Also, a more balanced distribution of permits across Vermont increased the total number of potentially benefiting residents, but not those from lower socio-economic groups. Understanding these differences and interactions between beneficiary groups is necessary to distribute benefits equitably amongst them.
The purpose of this study was to identify 1) the proportion of patients discharged from the emergency department (ED) with a diagnosis of concussion and return within 14 days, and 2) the characteristics that prompt a return.
A health records review was conducted on adult patients with a discharge diagnosis of a concussion who accessed care through Hamilton Health Sciences EDs and Urgent Care Centre in 2016. Subsequent data were collected from those who returned to the ED within 14 days. Clinical characteristics of returners were compared to those of non-returners.
Of the 389 patients included in the study, 38 (10%) returned within 14 days. Patients who sustained a concussion in a sport-related context or were referred to a specialized clinic were less likely to return (p = 0.03). Those who suffered an assault-related concussion were more likely to return (p = 0.01). Of those who did return, 42% received a CT scan with normal results, and 42% were given new discharge instructions.
Approximately 10% of patients diagnosed with a concussion in a Canadian hospital setting returned to the ED within 14 days of their index visit. Our study suggests the opportunity to reduce this burden to both the healthcare system and the patient through careful discharge instructions outlining anticipated symptoms following a concussion (specifically, headache) or referral to a concussion clinic.
The Scottish Medicines Consortium (SMC) encourages patient group (PG) representatives to participate in the decision-making committee meetings, answering questions from committee members and providing points of clarity throughout discussions if required. In a continuous improvement approach the process and the participant experience is continually evaluated to monitor impact and emerging themes.
The interactions between committee members and PG representatives are recorded in writing by the public involvement team to monitor the questions or points of clarity raised. These interactions were analyzed using thematic analysis to look for emerging themes. Following the meeting, PG representatives are invited to complete an online survey on their experience of working with SMC.
From July 2017 to October 2018, 36 PG representatives have attended committee meetings for the discussion of their submission. Committee members asked 17 PG representatives to contribute. Key themes that have emerged to date include insight into the impact of living with the condition on quality of life and how a new medicine may affect this. Survey feedback has been positive with participants reporting that patient engagement has been strengthened, and that the patient voice is heard, valued and supports committee members in making fully informed decisions. PG representatives expressed a willingness to participate again. Feedback also highlighted that the preparatory support offered to PG representatives by the public involvement team is highly valued.
Patient group participation in committee meetings has been received positively by PG representatives. They report that discussions relating to quality of life impact of medicines on patients and carers better reflect the lived experience, enriching committee's deliberations. This demonstrates SMCs commitment to openness and transparency and has strengthened patient engagement in our processes.
Transparency of processes and decision making is important to the Scottish Medicines Consortium (SMC). An independent review of access to new medicines in Scotland in 2016 recommended that SMC should review its communication of decisions with a view to achieving greater transparency. SMC therefore began to develop plain English summaries of advice on each new medicine.
A multi-stakeholder approach was adopted to develop the summary documents, with patient groups involved. Firstly, a review of communications for the public from other HTA organizations was conducted. The public involvement team then held a workshop to find out what patient groups felt would be important to include when explaining SMC decisions to patients and the public. The process was also informed by reviewing examples of good practice from other parts of NHSScotland, including patient versions of Scottish Intercollegiate Guidelines Network (SIGN) clinical guidelines. Exemplar documents were then developed and feedback sought from the Public Involvement Network Advisory Group.
A format was developed for the SMC ‘Decision Explained’ summaries consisting of a question and answer format for each medicine decision in a two page document. The summaries were piloted internally over a six month period, during which the development process and layout were finalized. Since September 2018 these summaries have been published on the website alongside the technical advice.
Partnership working between SMC and patient groups has helped to develop a new way of communicating SMC's decisions to patients and the public in a clear way, helping to improve transparency and understanding. Evaluation of the summaries will be undertaken from six months of publication.
Traits of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are strongly associated in children and adolescents, largely due to genetic factors. Less is known about the phenotypic and aetiological overlap between ADHD and ASD traits in adults.
We studied 6866 individuals aged 20–28 years from the Swedish Study of Young Adult Twins. Inattention (IA) and hyperactivity/impulsivity (HI) were assessed using the WHO Adult ADHD Self-Report Scale-V1.1. Repetitive and restricted behaviours (RRB) and social interaction and communication (SIC) were assessed using the Autism-Tics, ADHD, and other Comorbidities inventory. We used structural equation modelling to decompose covariance between these ADHD and ASD trait dimensions into genetic and shared/non-shared environmental components.
At the phenotypic level, IA was similarly correlated with RRB (r = 0.33; 95% Confidence Interval (CI) 0.31–0.36) and with SIC (r = 0.32; 95% CI 0.29–0.34), whereas HI was more strongly associated with RRB (r = 0.38; 95% CI 0.35–0.40) than with SIC (r = 0.24; 95% CI 0.21–0.26). Genetic and non-shared environmental effects accounted for similar proportions of the phenotypic correlations, whereas shared environmental effects were of minimal importance. The highest genetic correlation was between HI and RRB (r = 0.56; 95% 0.46–0.65), and the lowest was between HI and SIC (r = 0.33; 95% CI 0.23–0.43).
We found evidence for dimension-specific phenotypic and aetiological overlap between ADHD and ASD traits in adults. Future studies investigating mechanisms underlying comorbidity between ADHD and ASD may benefit from exploring several symptom-dimensions, rather than considering only broad diagnostic categories.
The methodological and epistemological challenges that research on ethnopolitical violence faces are examined. This research area is fundamentally important for political reasons and for understanding, as well as subsequent interventions to ameliorate, youths’ responses to ethnopolitical violence. Advances in methods are reviewed that can overcome the obstacles placed by the various challenges. These issues are discussed in the context of the articles that comprise this Special Section.
Articles in this timely Special Section represent an important milestone in the developmental science on children and youth involved in political violence and armed conflict. With millions of children worldwide affected by past and present wars and conflicts, there is an urgent and growing need for research to inform efforts to understand, prevent, and mitigate the possible harm of such violence to individual children, families, communities, and societies, for present as well as future generations. The four programs of research highlighted in this Special Section illustrate key advances and challenges in contemporary development research on young people growing up in the midst or aftermath of political violence. These studies are longitudinal, methodologically sophisticated, and grounded in socioecological systems models that align well with current models of risk and resilience in developmental psychopathology. These studies collectively mark a critically important shift to process-focused research that holds great promise for translational applications. Nonetheless, given the scope of the international crisis of children and youth affected by political violence and its sequelae, there is an urgent global need for greater mobilization of resources to support translational science and effective evidence-based action.
An increasing number of researchers and policymakers have been moved to study and intervene in the lives of children affected by violent conflicts (Masten, 2014). According to a United Nations Children's Fund (2009) report, over 1 billion children under the age of 18 are growing up in regions where acts of political violence and armed conflict are, as Ladds and Cairns (1996, p. 15) put it, “a common occurrence—a fact of life.” In recent years, the United Nations Children's Fund, advocacy and human rights groups, journalists, and researchers have drawn public attention to the high rates of child casualties in these regions, and to the plights of those children still caught in the crossfire. It has thus become clear that both the challenges and the stakes are higher than ever to promote the safety and well-being of affected children around the world (Masten & Narayan, 2012; Tol, Jordans, Kohrt, Betancourt, & Komproe, 2012).
Over 1 billion children worldwide are exposed to political violence and armed conflict. The current conclusions are qualified by limited longitudinal research testing sophisticated process-oriented explanatory models for child adjustment outcomes. In this study, consistent with a developmental psychopathology perspective emphasizing the value of process-oriented longitudinal study of child adjustment in developmental and social–ecological contexts, we tested emotional insecurity about the community as a dynamic, within-person mediating process for relations between sectarian community violence and child adjustment. Specifically, this study explored children's emotional insecurity at a person-oriented level of analysis assessed over 5 consecutive years, with child gender examined as a moderator of indirect effects between sectarian community violence and child adjustment. In the context of a five-wave longitudinal research design, participants included 928 mother–child dyads in Belfast (453 boys, 475 girls) drawn from socially deprived, ethnically homogenous areas that had experienced political violence. Youth ranged in age from 10 to 20 years and were 13.24 (SD = 1.83) years old on average at the initial time point. Greater insecurity about the community measured over multiple time points mediated relations between sectarian community violence and youth's total adjustment problems. The pathway from sectarian community violence to emotional insecurity about the community was moderated by child gender, with relations to emotional insecurity about the community stronger for girls than for boys. The results suggest that ameliorating children's insecurity about community in contexts of political violence is an important goal toward improving adolescents' well-being and adjustment. These results are discussed in terms of their translational research implications, consistent with a developmental psychopathology model for the interface between basic and intervention research.
Improving children's learning and development in conflict-affected countries is critically important for breaking the intergenerational transmission of violence and poverty. Yet there is currently a stunning lack of rigorous evidence as to whether and how programs to improve learning and development in conflict-affected countries actually work to bolster children's academic learning and socioemotional development. This study tests a theory of change derived from the fields of developmental psychopathology and social ecology about how a school-based universal socioemotional learning program, the International Rescue Committee's Learning to Read in a Healing Classroom (LRHC), impacts children's learning and development. The study was implemented in three conflict-affected provinces of the Democratic Republic of the Congo and employed a cluster-randomized waitlist control design to estimate impact. Using multilevel structural equation modeling techniques, we found support for the central pathways in the LRHC theory of change. Specifically, we found that LRHC differentially impacted dimensions of the quality of the school and classroom environment at the end of the first year of the intervention, and that in turn these dimensions of quality were differentially associated with child academic and socioemotional outcomes. Future implications and directions are discussed.