Extended twin study of alcohol use in Virginia and Australia

Drinking alcohol is a normal behavior in many societies, and prior studies have demonstrated it has both genetic and environmental sources of variation. Using two very large samples of twins and their first-degree relatives (Australia ≈ 20,000 individuals from 8,019 families; Virginia ≈ 23,000 from 6,042 families), we examine whether there are differences: (1) in the genetic and environmental factors that influence four interrelated drinking behaviors (quantity, frequency, age of initiation, and number of drinks in the last week), (2) between the twin-only design and the extended twin design, and (3) the Australian and Virginia samples. We find that while drinking behaviors are interrelated, there are substantial differences in the genetic and environmental architectures across phenotypes. Specifically, drinking quantity, frequency, and number of drinks in the past week have large broad genetic variance components, and smaller but significant environmental variance components, while age of onset is driven exclusively by environmental factors. Further, the twin-only design and the extended twin design come to similar conclusions regarding broad-sense heritability and environmental transmission, but the extended twin models provide a more nuanced perspective. Finally, we find a high level of similarity between the Australian and Virginian samples, especially for the genetic factors. The observed differences, when present, tend to be at the environmental level. Implications for the extended twin model and future directions are discussed

Staying Strong Toolbox: co-design of a physical activity and lifestyle program for Aboriginal families with Machado-Joseph disease in the Top End of Australia

Physical activity has positive health implications for individuals living with neurodegenerative diseases. The success of physical activity programs, particularly in culturally and linguistically diverse populations, is typically dependent on their alignment with the culture, lifestyle and environmental context of those involved. Aboriginal families living in remote communities in the Top End of Australia invited researchers to collaborate with them to co-design a physical activity and lifestyle program to keep individuals with Machado-Joseph disease (MJD) walking and moving around. The knowledge of Aboriginal families living with MJD, combined with findings from worldwide MJD research, formed the foundation for the co-design. An experience-based co-design (EBCD) approach, drawing from Indigenous and Participatory methodologies, was used. An expert panel of individuals with lived experience of MJD participated in a series of co-design phases. Prearranged and spontaneous co-design meetings were led by local community researchers within each phase. Data was collected using a culturally responsive ethnographic approach and analysed thematically. Sixteen panel members worked to develop the 'Staying Strong Toolbox' to cater for individuals with MJD who are 'walking strong'; or 'wobbly'; or 'in a wheelchair'. Based on the 'Staying Strong Framework', the Toolbox was developed as a spiral bound A3 book designed to guide the user to select from a range of activities to keep them walking and moving around and to identify those activities most important to them to work on. The 'Staying Strong Toolbox' is a community driven, evidence based resource for a physical activity and lifestyle program for Aboriginal families with MJD. The Toolbox provides a guide for health professionals and support workers to deliver person-centred support to Aboriginal families with MJD, and that can be modified for use by other families with MJD or people with other forms of ataxia around the world

HB 828: TANF Eligibility; Drug-Related Felonies

House Bill 828 (HB828) was proposed in 2016 to remove the ban on Temporary Assistance for Needy Families (TANF) for individuals with felony-related drug convictions who are otherwise eligible to receive benefits. The TANF program is designed to help low income families achieve self-sufficiency. States receive block grants to design and operate programs that accomplish one of the purposes of the TANF program: 1) Provide assistance to needy families so children can be cared for in their own homes; 2) Reduce the dependency of parents by promoting job preparation, work, and marriage; 3) Prevent and reduce the incidence of out-of-wedlock pregnancies; 4) Encourage the formation and maintenance of two-parent families (Personal Responsibility and Work Opportunity Reconciliation Act of 1996, Section 401). With nearly 700,000 people released from state and federal prison each year, access to TANF benefits is particularly critical for helping formerly incarcerated individuals transitioning back to their home communities. Significant disparities in convictions and incarceration coupled with variations in state population between Whites and Nonwhites translate into a disproportionate impact of the felony drug ban (The Sentencing Project, 2015). Virginia is one of 14 states with a full ban on TANF benefits for individuals with felony-related drug convictions. Adoption of HB828 proposes to eliminate this lifetime ban and provide an opportunity for low income families to meet their basic needs during the period in which they are in most need

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases. Objective: A locus on chromosome 8 has previously been linked to the disease in three families, but no underlying gene defect has to date been identified. Design: The study design comprised single-nucleotide polymorphism genotyping and mutation detection. Setting: The study was conducted at secondary and tertiary referral centers. Patients: Eighty probands from families referred for investigation of the genetic cause of FGD participated in the study. Interventions: There were no interventions. Results: Analysis by single-nucleotide polymorphism array of the genotype of one individual with FGD previously linked to chromosome 8 revealed a large region of homozygosity encompassing the steroidogenic acute regulatory protein gene, STAR. We identified homozygous STAR mutations in this patient and his affected siblings. Screening of our total FGD patient cohort revealed homozygous STAR mutations in a further nine individuals from four other families. Conclusions: Mutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. Our results demonstrate that certain mutations in STAR (R192C and the previously reported R188C) can present with a phenotype indistinguishable from that seen in FGD

International Extension Curriculum: Strengthening Extension\u27s Capacity for International Engagement—Module 6: Exploring Cultural Perspective of Families

Families build the foundation of communities. As the demographic profiles of families in communities change, communities change. In order to design and deliver extension programs and services to effectively meet the needs of communities, it is important to understand the needs and wants of those who live there. This module can provide professional development to extension staff. However, activities in this module can also be used in extension programming to assist others in learning about the role of culture in families, how individuals can design and deliver programs and services.https://lib.dr.iastate.edu/hdfs_extensionpubs/1000/thumbnail.jp

Changes in intergenerational eating patterns and the impact on childhood obesity

The objective of this study was to examine intergenerational eating patterns within two sets of families, those with an obese child and those with a normal weight child, and to assess the impact of intergenerational influences on children's eating. A qualitative study design was used, incorporating focus groups and semi-structured interviews. Sixteen focus groups took place and 27 semi-structured interviews were held with different generations. Focus groups were conducted in the community with grandparents, parents and children from different families. This was followed by semi-structured interviews, involving individuals from three generations within families with an obese child and within families with a normal weight child. An examination of intergenerational eating has shown that eating patterns have changed regardless of whether or not families have children who are obese. The grandparent's eating patterns were more structured, whereas the children's eating patterns were less so. There have been more changes, and eating is less structured, within those families with an obese child than those families with a normal weight child. It is recommended that approaches to tackling childhood obesity concentrate on the family setting and the ways in which professionals can support families to change eating practices. Future research should formally test the relationship between the concept 'structured eating' and the 'what' of eating, in order to determine whether there is a link between intergenerational eating patterns and childhood obesity. © The Author(s) 2010

Understanding the information experiences of parents involved in negotiating post-separation parenting arrangements

The paper presents findings from a study into the information experiences of people needing to make post-separation parenting arrangements. Data was collected from 20 participants, through in-depth, semi-structured, telephone interviews. Thematic analysis identified five major themes: Following, Immersion, Interpersonal, History and Context which depict the information experiences of the participants. The findings can be used as an evidence base to inform the design and delivery of support and services provided by government agencies and other community groups supporting the legal information needs of individuals and families. The work extends current understandings of information experience as an object of study in the information science discipline

Prevention: wrestling with new economic realities

Purpose – The purpose of this paper is to discuss the economic pressures on long-term care systems, and describe how an economic case might be made for better care, support and preventive strategies. Design/methodology/approach – Discussion of recent developments and research responses, with illustrations from previous studies. Findings – Economics evidence is highly relevant to decision makers in health, social care, and related systems. When resources are especially tight, economics evidence can sometimes persuade uncertain commissioners and others to adopt courses of action that improve the wellbeing of individuals, families, and communities. Originality/value – The paper uses long-established approaches in economic evaluation to discuss preventive and other strategies in today's challenging context

Edutainment System for Children with Autism Spectrum Disorder

I have always believed that a qualified designer should design products that can help society; therefore, I have kept my eye on core social issues. My graduate thesis is definitely a great opportunity for me to help minority groups in society through a designer\u27s perspective. As we all have noticed, the number of families that have a child with autism spectrum disorder (ASD) is increasing year by year, and these families are all struggling with difficult issues. That\u27s why I chose ASD as my thesis topic. I want to help children with ASD through design. Because ASD is a broad subject, my project started with plenty of research from books, online articles, and community activities, in order to narrow down the main topic and to decide on a target group. The design process included background research, research of children with ASD and their families, the creation of a problem definition, ideation, design advancement, and specifications. I hope my final design will not only help children with ASD with their physical performance, but also help them with their social and communication skills. All in all, I think my thesis design shows how a product designer can care about individuals with unique needs in the society and originate a new product system that can help resolve issues for them. In the future, I also would like to develop this project into a universal design that can help all children, whether they are challenged or not

Whole-Exome Sequencing in Familial Parkinson Disease

IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors. OBJECTIVE: To identify genetic variants contributing to disease risk in familial PD. DESIGN, SETTING, AND PARTICIPANTS: A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the discovery cohort, rare exonic variants that segregated in multiple affected individuals in a family and were predicted to be conserved or damaging were retained. Genes with retained variants were prioritized if expressed in the brain and located within PD-relevant pathways. Genes in which prioritized variants were observed in at least 4 families were selected as candidate genes for replication in the replication cohort. The setting was among individuals with familial PD enrolled from academic movement disorder specialty clinics across the United States. All participants had a family history of PD. MAIN OUTCOMES AND MEASURES: Identification of genes containing rare, likely deleterious, genetic variants in individuals with familial PD using a 2-stage exome sequencing study design. RESULTS: The 93 individuals from 32 families in the discovery cohort (49.5% [46 of 93] female) had a mean (SD) age at onset of 61.8 (10.0) years. The 49 individuals with familial PD in the replication cohort (32.6% [16 of 49] female) had a mean (SD) age at onset of 50.1 (15.7) years. Discovery cohort recruitment dates were 1999 to 2009, and replication cohort recruitment dates were 2003 to 2014. Data analysis dates were 2011 to 2015. Three genes containing a total of 13 rare and potentially damaging variants were prioritized in the discovery cohort. Two of these genes (TNK2 and TNR) also had rare variants that were predicted to be damaging in the replication cohort. All 9 variants identified in the 2 replicated genes in 12 families across the discovery and replication cohorts were confirmed via Sanger sequencing. CONCLUSIONS AND RELEVANCE: TNK2 and TNR harbored rare, likely deleterious, variants in individuals having familial PD, with similar findings in an independent cohort. To our knowledge, these genes have not been previously associated with PD, although they have been linked to critical neuronal functions. Further studies are required to confirm a potential role for these genes in the pathogenesis of PD