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Because neurodevelopmental disorders, such as autism spectrum disorder, intellectual disability, and language disorder, are genetically heterogeneous, there is a need for exploring their many pathways, and case studies provide a means to do so in rare conditions. We present a case study describing fraternal twins with an unbalanced translocation, resulting in a partial trisomy of chromosome 10 (q24.1) and a partial monosomy of chromosome 12 (p13). The twin’s father, a healthy individual with typical development, was found to have a balanced translocation between chromosomes 10q and 12p. Although a handful of cases have described individuals with only trisomies of chromosome 10q or only monosomies of chromosome 12p, none have examined children with both chromosomal aberrations. We describe the children’s cognitive and behavioral phenotype (including autism spectrum disorder, moderate intellectual disability, and language disorder), discuss a possible genetic mechanism contributing to their comorbidities (i.e., 12p13 microdeletions), and review other potential contributing factors to their presentation.

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance ( P  < 2.5 × 10 −6 ), including five new risk genes ( NAV3 , ITSN1 , MARK2 , SCAF1 and HNRNPUL2 ). The association of NAV3 with autism risk is primarily driven by rare inherited loss-of-function (LoF) variants, with an estimated relative risk of 4, consistent with moderate effect. Autistic individuals with LoF variants in the four moderate-risk genes ( NAV3 , ITSN1 , SCAF1 and HNRNPUL2 ; n  = 95) have less cognitive impairment than 129 autistic individuals with LoF variants in highly penetrant genes ( CHD8, SCN2A, ADNP, FOXP1 and SHANK3 ) (59% vs 88%, P  = 1.9 × 10 −6 ). Power calculations suggest that much larger numbers of autism cases are needed to identify additional moderate-risk genes. An integrated analysis of de novo and inherited coding variants in 42,607 individuals with autism spectrum disorder identifies 60 risk genes of which five have not previously been associated with neurodevelopmental disorders.

The Autism Diagnostic Observation Schedule (ADOS-2) is commonly used in the diagnosis of autism spectrum disorder (ASD). Although it has demonstrated good sensitivity and specificity in research settings, relatively little is known about its utility and accuracy in children and adolescents with co-occurring psychiatric disorders. We investigated this topic in children with acute psychiatric disorders. Our sample consisted of 58 patients, aged 9–18 years, admitted to a child and adolescent psychiatric inpatient unit with a suspected diagnosis of ASD. Both Modules 3 and 4 demonstrated low sensitivity (Module 3: 58.3%; Module 4: 55.6%) and specificity (Module 3: 56.5%; Module 4: 59.5%). These findings suggest that the ADOS-2 should be interpreted with caution while screening for autism in children with complex psychiatric disorders.

This study examined lifetime medical and psychiatric morbidity reported by caregivers of 2917 autistic adults participating in the US research cohort SPARK. Participants were 78.4% male, 47.3% had intellectual disability, and 32.1% had persistent language impairments. Childhood language disorders (59.7%), speech/articulation problems (32.8%), sleep (39.4%) and eating problems (29.4%), motor delays (22.8%) and history of seizure (15.5%) were the most frequently reported clinical features. Over two thirds (67.2%) had been diagnosed with at least one psychiatric disorder (anxiety disorders: 41.1%; ADHD: 38.7%). Compared to verbally fluent participants, those with language impairments had lower frequencies of almost all psychiatric disorders. Female sex and older age were associated with higher medical and psychiatric morbidity.

Fear of autism has led to a decline in childhood-immunization uptake and to a resurgence of preventable infectious diseases. Identifying characteristics of parents who believe in a causal role of vaccines for autism spectrum disorder (ASD) in their child may help targeting educational activities and improve adherence to the immunization schedule. To compare caregivers of children with ASD who agree or disagree that vaccines play an etiological role in autism for 1) socio-demographics characteristics and 2) developmental and clinical profiles of their children. Data from 16,525 participants with ASD under age 18 were obtained from SPARK, a national research cohort started in 2016. Caregivers completed questionnaires at registration that included questions on beliefs about the etiologic role of childhood immunizations and other factors in ASD. Data were available about family socio-demographic characteristics, first symptoms of autism, developmental regression, co-occurring psychiatric disorders, seizures, and current levels of functioning. Participants with ASD were 80.4% male with a mean age of 8.1 years (SD = 4.1). Overall, 16.5% of caregivers endorsed immunizations as perceived causes of autism. Compared to caregivers who disagreed with vaccines as a cause for ASD, those who believed in vaccine causation came disproportionately from ethnic minority, less educated, and less wealthy backgrounds. More often their children had experienced developmental regression involving language and other skills, were diagnosed earlier, had lost skills during the second year of life, and had worse language, adaptive, and cognitive outcomes. One in six caregivers who participate in a national research cohort believe that child immunizations could be a cause of autism in their child. Parent social background (non-White, less educated) and child developmental features (regression in second year, poorer language skills, and worse adaptive outcomes) index caregivers who are more likely to harbor these beliefs and could benefit from targeted educational activities.

The purpose of this study was to examine whether differences found in the interaction patterns of depressed versus non-depressed parents with their children, were also evident in the responses of depressed versus non-depressed childcare providers. A group of 125 childcare providers and preschool teachers watched a series of video vignettes and completed a questionnaire rating their likely responses to each situation. Data were also collected about the type of work settings for caregivers, their current and past moods, social support, and demographic characteristics. The most important result from this study is that childcare providers who work in corporate-owned (chain) childcare centers are more likely to be higher in depressive symptoms than is the case for providers who work in non-corporate owned centers or in home-based childcare environments. Furthermore, those who work in chain centers, and also endorse having low social support are at the greatest risk of being depressed, whereas those who work at a non-chain center, with high social support, are most likely to be categorized as free of depression currently, as well as in the past. The main hypothesis of this study was not supported. Depressed providers compared to non-depressed providers, were not found to report more negative, less positive, and more disengaged responses toward children. Several potential explanations for the failure to find expected patterns of behavior among depressed caregivers are explored within this dissertation. Many suggested directions for future research in this important, yet understudied area of research are also included.

This study examined current and recent depressive symptoms in 99 childcare providers working at least 20 hours per week in home or center-based childcare environments. Participants were selected from work sites distributed across a large metropolitan area. The participants were 97% women and were representative of locations and types of childcare settings (center vs. home-based) as well as ethnic distribution of the three county area. Participants completed the Center for Epidemiological Studies Depression Scale (CES-D) and the Symptom Checklist-90-Revised (SCL-90-R). Although average scores on these instruments were not elevated, 27% of caregivers scored above 16 on the CES-D and 48% scored above 60 (1 SD above the mean) on the SCL-90-R depression subscale. These indicate the presence of a clinically important level of depressive symptoms, in greater proportion than is present among women in 38 general. Caregivers who were older, more experienced, or had more perceived social support reported fewer depressive symptoms.

Socially constructed models of femininity have directed the lives of women for centuries and this has often been reflected in the literature of each historical period. Classical and biblical literature promoted images of ideal women, while demonstrating also, through representations of their counterparts, the fate of women who challenged the status quo. Such images were modified as societies changed but, in general, it was only the women who conformed who achieved lasting happiness through marriage. In Victorian Britain the rise of the domestic ideology gave birth to the restrictive stereotype of the Perfect Lady and this effectively confined women to the home. Welsh women's history has mostly remained hidden, but recent studies of nineteenth century female education have highlighted the extent to which English middle class domestic ideology influenced Welsh society. To counteract the undesirable images of Welsh women projected by the 1847 Reports of the Commissions of Inquiry into the State of Education in Wales, the literature of Wales developed strong mother figures, delineated as the repositories for moral values. Thus, the English paragon was imported into Wales as a working-class model; The Mam. By the end of the century, women were seeking equality in education and employment, and equal legal and political status, and this philosophy also percolated through to the working classes. While the images of Welsh women which women novelists in Wales have presented do include such stereotypes as, the Perfect Lady, Mam, New Woman, and Harlot, the authors have demonstrated a considerable range and depth of characterization. Despite the restrictions of the genre many of them have addressed social and political issues, especially those which focused on the position of women, within their works, and have represented the harsh realities of life for women in Wales. Their novels reflect an acute awareness of the inequalities between the sexes which were propagated by Church and State, and it is significant that it is the women writers who have all, to a greater or lesser degree, identified education as the key to female emancipation.

Psittacosis, also known as parrot fever and ornithosis, is a bacterial infection that can cause severe pneumonia and other serious health problems in humans. It is caused by Chlamydia psittaci. Reclassification of the order Chlamydiales in 1999 into 2 genera (Chlamydia and Chlamydophila) was not wholly accepted or adopted. This resulted in a reversion to the single, original genus Chlamydia, which now encompasses all 9 species including Chlamydia psittaci. During 2003–2014, 112 human cases of psittacosis were reported to the Centers for Disease Control and Prevention through the Nationally Notifiable Diseases Surveillance System. While many types of birds can be infected by C psittaci, in general, the literature suggests that human cases can most often occur after exposure to infected parrot-type birds kept as pets, especially cockatiels, parakeets, and conures. In birds, C psittaci infection is referred to as avian chlamydiosis. Infected birds shed the bacteria through feces and nasal discharges, and humans become infected from exposure to these materials. This compendium provides information about psittacosis and avian chlamydiosis to public health officials, physicians, veterinarians, the pet bird industry, and others concerned with controlling these diseases and protecting public health. The recommendations in this compendium provide standardized procedures to control C psittaci infections. This document will be reviewed and revised as necessary, and the most current version replaces all previous versions. This document was last revised in 2010. Major changes in this version include a recommendation for a shorter treatment time for birds with avian chlamydiosis, additional information about diagnostic testing, including genotyping, clearer language associated with personal protective equipment recommended for those caring for confirmed or exposed birds, and incorporating a grading scale with recommendations generally based on the United States Preventive Services Task Force's methods.