Australian Family Research Articles

Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia

Familial hypercholesterolaemia (FH) is a dominant and highly penetrant monogenic disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration and, if untreated, leads to premature atherosclerosis and coronary artery disease (CAD). There are approximately 100,000 people with FH in Australia. However, an overwhelming majority of those affected remain undetected and inadequately treated, consistent with FH being a leading challenge for public health genomics. To further address the unmet need, we provide an updated guidance, presented as a series of systematically collated recommendations, on the care of patients and families with FH. These recommendations have been informed by an exponential growth in published works and new evidence over the last 5 years and are compatible with a contemporary global call to action on FH. Recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH. Guidance on management is based on the concepts of risk re-stratification, adherence to heart healthy lifestyles, treatment of non-cholesterol risk factors, and safe and appropriate use of LDL-cholesterol lowering therapies, including statins, ezetimibe, proprotein convertase subtilisin/kexin type 9 inhibitors and lipoprotein apheresis. Broad recommendations are also provided for the organisation and development of health care services. Recommendations on best practice need to be underpinned by good clinical judgment and shared decision making with patients and families. Models of care for FH need to be adapted to local and regional health care needs and available resources. A comprehensive and realistic implementation strategy, informed by further research, including assessments of cost-benefit, will be required to ensure that this new guidance benefits all Australian families with or at risk of FH.

The ineffable allure of sugar – Hammer cake, That Sugar Film and contradictory pleasures

This article explores the complicated place of sugar in the display of family connectedness and health in a white, middle class Australian family. In the context of heightened anxiety about childhood obesity, we present the Baker family as a case study to explore the pleasures and tensions that sugar consumption produces in families. On their birthdays, each child has a luxurious “Hammer Cake” coated in chocolate studded with sweets; simultaneously the family members have also been influenced by the documentary That Sugar Film and check the sugar contents on packages as they shop. We analyze how these pleasures and pressures are balanced: how anxieties about sugar are negotiated and managed in food practices and in the making of family through rituals of celebration. We argue that the concept of “contradictory pleasures,” where certain foods are seen as “excess,” but mobilized for celebration, offers a nuanced and valuable framework to illuminate simultaneously negative and positive attitudes toward certain foods in family food practices and how families navigate multiple influences on these practices, including popular culture and public health discourses.

Autism-associated miR-873 regulates ARID1B, SHANK3 and NRXN2 involved in neurodevelopment

Autism spectrum disorders (ASD) are highly heritable neurodevelopmental disorders with significant genetic heterogeneity. Noncoding microRNAs (miRNAs) are recognised as playing key roles in development of ASD albeit the function of these regulatory genes remains unclear. We previously conducted whole-exome sequencing of Australian families with ASD and identified four novel single nucleotide variations in mature miRNA sequences. A pull-down transcriptome analysis using transfected SH-SY5Y cells proposed a mechanistic model to examine changes in binding affinity associated with a unique mutation found in the conserved ‘seed’ region of miR-873-5p (rs777143952: T > A). Results suggested several ASD-risk genes were differentially targeted by wild-type and mutant miR-873 variants. In the current study, a dual-luciferase reporter assay confirmed miR-873 variants have a 20-30% inhibition/dysregulation effect on candidate autism risk genes ARID1B, SHANK3 and NRXN2 and also confirmed the affected expression with qPCR. In vitro mouse hippocampal neurons transfected with mutant miR-873 showed less morphological complexity and enhanced sodium currents and excitatory neurotransmission compared to cells transfected with wild-type miR-873. A second in vitro study showed CRISPR/Cas9 miR-873 disrupted SH-SY5Y neuroblastoma cells acquired a neuronal-like morphology and increased expression of ASD important genes ARID1B, SHANK3, ADNP2, ANK2 and CHD8. These results represent the first functional evidence that miR-873 regulates key neural genes involved in development and cell differentiation.

Introducing Oceanic Societies in COVID‐19

Introducing Oceanic Societies in <scp>COVID</scp>‐19

The Current Discussion on Austrian Family Benefits – Indicating a Major Dissensus on the Interpretation of EU Law

In early 2018, Austria amended its family benefits law by introducing ‘indexation’ according to the average living costs of the country where the child actually resides. What seems to be, at first sight, a flagrant breach of EU law (in particular of Article 7 of Regulation [EC] 883/2004) is, when looking deeper, much more complicated and might very well be only a symptom of deeply rooted differences in the interpretation of current, post-Lisbon Union law, (i) in particular with regard to the relationship between the traditional prohibition of “discrimination on grounds of nationality” (Article 18 TFEU, Article 21(2) CFR; the ‘Leitmotiv’ of the Treaties) and the “citizenship of the Union” (Article 9 second sentence TEU, Article 20(1), first and second sentence) on the one hand and the further role of the “nationality of a Member State” on the other, which shall, pursuant to Article 9 TEU, third sentence, as well as Article 20(1) TFEU, third sentence, not be replaced by the “citizenship of the Union”, (ii) but also with regard to Article 352 TFEU, the scope of which is, most probably, much smaller than that of its predecessor, Article 308 TEC, (iii) and last but not least, with regard to a proper understanding of the principle of equal treatment, requiring not to treat alike factually different situations. Giving a full picture not only in abstract terms but demonstrating the relevance of the said differences on the concrete example of the interpretation of the above mentioned secondary legislation, the author aims at contributing to bridging gaps and, thus, fostering a better mutual understanding as a vital precondition for the future legal cohesion of the EU.

Locally adaptive Bayesian birth-death model successfully detects slow and rapid rate shifts.

Birth-death processes have given biologists a model-based framework to answer questions about changes in the birth and death rates of lineages in a phylogenetic tree. Therefore birth-death models are central to macroevolutionary as well as phylodynamic analyses. Early approaches to studying temporal variation in birth and death rates using birth-death models faced difficulties due to the restrictive choices of birth and death rate curves through time. Sufficiently flexible time-varying birth-death models are still lacking. We use a piecewise-constant birth-death model, combined with both Gaussian Markov random field (GMRF) and horseshoe Markov random field (HSMRF) prior distributions, to approximate arbitrary changes in birth rate through time. We implement these models in the widely used statistical phylogenetic software platform RevBayes, allowing us to jointly estimate birth-death process parameters, phylogeny, and nuisance parameters in a Bayesian framework. We test both GMRF-based and HSMRF-based models on a variety of simulated diversification scenarios, and then apply them to both a macroevolutionary and an epidemiological dataset. We find that both models are capable of inferring variable birth rates and correctly rejecting variable models in favor of effectively constant models. In general the HSMRF-based model has higher precision than its GMRF counterpart, with little to no loss of accuracy. Applied to a macroevolutionary dataset of the Australian gecko family Pygopodidae (where birth rates are interpretable as speciation rates), the GMRF-based model detects a slow decrease whereas the HSMRF-based model detects a rapid speciation-rate decrease in the last 12 million years. Applied to an infectious disease phylodynamic dataset of sequences from HIV subtype A in Russia and Ukraine (where birth rates are interpretable as the rate of accumulation of new infections), our models detect a strongly elevated rate of infection in the 1990s.

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Several CHM gene replacement clinical trials are in advanced stages. In this study, we report the molecular confirmation of choroideremia in 14 Australian families sourced from the Australian Inherited Retinal Disease Registry and DNA Bank. Sixteen males (14 symptomatic) and 18 females (4 symptomatic; 14 obligate carriers) were identified for analysis. Participants’ DNA was analyzed for disease-causing CHM variants by Sanger sequencing, TaqMan qPCR and targeted NGS. We report phenotypic and genotypic data for the 14 symptomatic males and four females manifesting disease symptoms. A pathogenic or likely pathogenic CHM variant was detected in all families. Eight variants were previously reported, and five were novel. Two de novo variants were identified. We previously reported the molecular confirmation of choroideremia in 11 Australian families. This study expands the CHM genetically confirmed Australian cohort to 32 males and four affected carrier females.

From "It Has Stopped Our Lives" to "Spending More Time Together Has Strengthened Bonds": The Varied Experiences of Australian Families During COVID-19.

The present study uses a qualitative approach to understand the impact of COVID-19 on family life. Australian parents of children aged 0–18 years were recruited via social media between April 8 and April 28, 2020, when Australians were experiencing social distancing/isolation measures for the first time. As part of a larger survey, participants were asked to respond via an open-ended question about how COVID-19 had impacted their family. A total of 2,130 parents were included and represented a diverse range of family backgrounds. Inductive template thematic analysis was used to understand patterns of meaning across the texts. Six themes were derived from the data, including “Boredom, depression and suicide: A spectrum of emotion,” “Families are missing the things that keep them healthy,” “Changing family relationships: The push pull of intimacy,” “The unprecedented demands of parenthood,” “The unequal burden of COVID-19,” and “Holding on to positivity.” Overall, the findings demonstrated a breadth of responses. Messages around loss and challenge were predominant, with many families reporting mental health difficulties and strained family relationships. However, not all families were negatively impacted by the restrictions, with some families reporting positive benefits and meaning, including opportunities for strengthening relationships, finding new hobbies, and developing positive characteristics such as appreciation, gratitude, and tolerance.

Stillbirth in Australia 4: Breaking the Silence: Amplifying Public Awareness of Stillbirth in Australia

Prevention of stillbirth remains one of the greatest challenges in modern maternity care. Despite this, public awareness is low and silence is common within families, the community and even healthcare professionals. Australian families and parent advocacy groups given a voice through the Senate Enquiry have made passionate and articulate calls for a national stillbirth awareness campaign. This fourth paper in the Stillbirth in Australia series outlines why stillbirth needs a national public awareness campaign; and provides an overview of good practice in the design, development and evaluation of public awareness campaigns. The cognitive and affective steps required to move from campaign awareness to action and eventually to stillbirth prevention are described. Using these best practice principles, learning from previous campaigns combined with close collaboration with aligned agencies and initiatives should assist a National Stillbirth Prevention Campaign to increase community awareness of stillbirth, help break the silence and contribute to stillbirth prevention across Australia.

Keeping the Nation’s Secrets: “Colonial Storytelling” within Australian Families

Recent studies of the genealogy craze focus on how family historians appeal to ancestors to fashion their own identities, but practicing family history can also be a form of national identity-work. In this paper I explore how Larissa Behrendt’s notion of “colonial storytelling” might apply to the hi/stories told within families, as they seek to reproduce or challenge inherited narratives of settler colonialism. To do this, I analyze a sample of self-published family histories of “settlement” held at the National Library of Australia. With close attention to family historians’ books, I consider how genealogical research can revise the collective memories that shape both familial and national imaginaries and offer a model for truth-telling.

Adapting and Implementing the “Helping Our Toddlers, Developing Our Children’s Skills (HOT DOCS)” Parent Training Program in an Australian Context: A Feasibility Study

ABSTRACT Externalizing behavior problems are the most common mental health concern of early childhood, but only a minority of families access parent management training (PMT) programs that are empirically-supported for reducing and preventing these behaviors. This study aimed to evaluate the acceptability and preliminary efficacy of a group-based universal PMT program developed in the United States (US) and adapted for Australia. The program was “Helping Our Toddlers, Developing Our Children’s Skills” (HOT DOCS), designed to teach parents a personalized problem-solving approach to address their young children’s challenging behaviors. This paper describes the four-stage adaptation and implementation process and presents results from a feasibility study with pre-intervention, post-intervention, and 2-month follow-up data. Participants were 40 parents of 36 children (M age = 2.85 years). Retention in the program (92.5%) and attendance (M = 6.16 of 7 total sessions, SD = 1.09) were high, and parents reported using the recommended parenting strategies multiple times per week throughout the program (M = 3.31 to 5.57 times per week, SD = 1.86 to 2.03). Parent satisfaction with the program was high; feedback from participants suggested that acceptability could be improved by including Australian video examples. At post-intervention, parents reported significant improvements in parenting knowledge, parenting self-efficacy and parenting stress (Cohen’s d = 1.02 to 1.28), and parent reports of child behavior indicated significant improvements in challenging behaviors (d = 0.49 to 0.64), with all effects maintained at 2 months. These preliminary results suggest that the Australian adaptation of HOT DOCS should continue to be implemented and further investigated, with modifications to video examples to increase relevance for culturally-diverse Australian families.

Effective Marginal Tax or Benefit? The Medicare Levy and Australian Defence Personnel

Does the phase‐in of the Australian Medicare levy as family income increases always contribute to a high effective marginal tax rate (EMTR)? Or are there circumstances in which the targeted nature of the Medicare levy in Australia can result in an effective marginal benefit (EMB) to family income as the income of the secondary income earner increases? This paper explains the concept of an EMB, providing examples and estimating the impact across different income ranges. The paper concludes that the existence of EMBs may lessen the impact of high EMTRs to some extent for the families affected. This is of particular importance to Australian Defence Force families in which the secondary income earner moves in and out of employment as the family relocates due to the defence posting cycle.

FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma

Germline mutations in CDKN2A greatly increase risk of developing cutaneous melanoma. We have constructed a risk prediction model, Familial Risk Assessment of Melanoma (FRAMe), for estimating the likelihood of carrying a heritable CDKN2A mutation among Australian families, where the prevalence of these mutations is low. Using logistic regression, we analysed characteristics of 299 Australian families recruited through the Sydney site of GenoMEL (international melanoma genetics consortium) with at least three cases of cutaneous melanoma (in situ and invasive) among first-degree blood relatives, for predictors of the presence of a pathogenic CDKN2A mutation. The final multivariable prediction model was externally validated in an independent cohort of 61 melanoma kindreds recruited through GenoMEL Queensland. Family variables independently associated with the presence of a CDKN2A mutation in a multivariable model were number of individuals diagnosed with melanoma under 40years of age, number of individuals diagnosed with more than one primary melanoma, and number of individuals blood related to a melanoma case in the first degree diagnosed with any cancer excluding melanoma and non-melanoma skin cancer. The number of individuals diagnosed with pancreatic cancer was not independently associated with mutation status. The risk prediction model had an area under the receiver operating characteristic curve (AUC) of 0.851 (95% CI 0.793, 0.909) in the training dataset, and 0.745 (95%CI 0.612, 0.877) in the validation dataset. This model is the first to be developed and validated using only Australian data, which is important given the higher rate of melanoma in the population. This model will help to effectively identify families suitable for genetic counselling and testing in areas of high ambient ultraviolet radiation. A user-friendly electronic nomogram is available at www.melanomarisk.org.au .

Digital Health Tools and Patients With Drug Use Disorders: Qualitative Patient Experience Study of the Electronic Case-Finding and Help Assessment Tool (eCHAT).

BackgroundOne of the promises of digital health is to better engage patients and improve care for vulnerable populations. Patients with drug use disorders are a vulnerable population who often do not receive the care they need, both for their drug use disorders as well as their other health care needs. Appropriate primary care for patients with drug use disorders needs to be patient-centered, holistic, highly accessible, and engaging. The electronic Case-finding and Help Assessment Tool (eCHAT) was designed as a patient-centered tool for the identification and measurement of problematic health behaviors and mood states.ObjectiveThe aim of this study was to explore the patient experience of eCHAT at an Australian family medicine clinic for patients with drug use disorders.MethodsA total of 12 semistructured interviews were conducted with patients, two interviews were conducted with doctors, and one focus group was conducted with patient advocates who were former patients of the clinic where the study took place. The transcripts were analyzed using inductive thematic analysis.ResultsThe key themes identified from the interviews and the focus group were as follows: (1) eCHAT helped reduce stigma related to drug use in the doctor-patient consultation, (2) restricted answer options impacted the ability of patients to tell their stories, (3) patient-related response factors, (4) increased efficiency in the consultation process, and (5) divergence in level of concern around security and privacy.ConclusionseCHAT has the potential to help vulnerable patients in primary care to engage more with their doctors and reduce experiences of stigma. eCHAT may be a useful digital health intervention in a family medicine clinic for patients with drug use disorders. It has the potential to improve patient engagement and access to health care, which are crucial areas of need in this vulnerable population. However, it is important to clearly communicate the privacy risk of digital health tools and to implement eCHAT such that it will add value to, rather than displace, in-person consultations with the family doctor.

Priority setting: Consensus for Australia's infant safe sleeping public health promotion programme

To develop focused priorities to inform the revision of Australia's Sudden Unexpected Death in Infancy (SUDI) risk reduction public health programme. A content expert consensus research activity was designed using two consensus techniques. The two-phase study employed a Delphi process (phase 1) and a Nominal Group workshop technique (phase 2). The Delphi invited 56 national and international content experts. The Nominal Group comprised 17 Australasian experts and stakeholders to ensure priority setting was relevant to the Australian context. Phase 1 established a ranked thematic list of 10 key SUDI risk reduction themes. Phase 2 addressed three nominal questions producing prioritised lists for: key-message wording; contextual information and strategies to support caregiver implementation of key messages; and considerations in redesigning and dissemination of a safe sleep campaign. The top four priority themes were: sleep position, sleep space, smoking and surface-sharing. This two-phase priority setting was successful in establishing clearly defined infant safe sleep priorities. International content expert participation in phase 1 strengthened priority setting outcomes while phase 2 ensured final outcomes provided a strong national focus reflective of identified needs of Australian families. Findings provide a foundation from which important components can be considered when revising and developing future SUDI risk reduction programmes.

Innovation in Family Firms: The Relative Effects of Wealth Concentration Versus Family-Centered Goals

Drawing on agency and behavioral perspectives, we disentangle two critical determinants of innovation strategies among family firms, namely, the family’s wealth concentration (WC) in its business and the family’s emphasis on family-centered goals (FCGs). Our results from a survey of Australian family firms show opposite and completely independent effects of WC and family-centered noneconomic goals on family firms’ innovation strategies. While higher WC is negatively associated with firm innovation, a greater emphasis placed on family-centered noneconomic goals has a positive impact, which seems to be the key determinant of innovation strategies in family firms.

Mothers' and fathers' quantitative and qualitative parenting in relation to children's emotional adjustment: A between- and within-family investigation.

This longitudinal study of Australian families (n = 1,884, from age 6-12) examined how fathers' and mothers' quantitative involvement (time spent on childcare) and qualitative involvement (specific parenting behaviors) relate to children's emotional adjustment development. We used dynamic structural equation modeling to disentangle stable between-family differences from within-family fluctuations in qualitative parenting and emotional adjustment, allowing us to investigate the direction of effects between parents and children. Because fathers have been theorized to contribute uniquely to emotional adjustment development, we examined differences between mothers and fathers and the interplay between parent and child sex. We further examined whether between-family differences in quantitative involvement, operationalized as joint (total) and relative (one parent does more) involvement, predict qualitative parenting behaviors and emotional adjustment and moderate the within-family interplay between them. Results revealed between-family correlations of qualitative involvement with emotional adjustment. Evidence for significant average within-family effects was limited to a parenting effect of maternal warmth, and several child effects, which indicated that emotional adjustment evokes changes in parenting. However, parenting effects varied substantially across families, especially for fathers. Between-family differences in quantitative involvement explained some of these differences. When joint quantitative involvement was higher, both parents engaged in more desirable qualitative parenting. When mothers were relatively more involved than fathers, fathers displayed less desirable qualitative parenting, and children were less well adjusted. There was some limited evidence that within-family predictive effects were moderated by quantitative involvement, particularly relative involvement. These findings suggest that all family members benefit from a more equal childcare distribution. (PsycInfo Database Record (c) 2020 APA, all rights reserved).

American and Australian family experiences while receiving a diagnosis or having treatment for idiopathic toe walking: a qualitative study

ObjectiveTo understand parent journeys while navigating diagnosis, assessment or treatment of their children with idiopathic toe walking (ITW).DesignMixed methods qualitative study: analyses of survey data from the measure of processes...

Study Protocol for the COVID-19 Pandemic Adjustment Survey (CPAS): A Longitudinal Study of Australian Parents of a Child 0-18 Years.

BackgroundThe COVID-19 pandemic presents significant risks to the mental health and wellbeing of Australian families. Employment and economic uncertainty, chronic stress, anxiety, and social isolation are likely to have negative impacts on parent mental health, couple and family relationships, as well as child health and development.ObjectiveThis study aims to: (1) provide timely information on the mental health impacts of the emerging COVID-19 crisis in a close to representative sample of Australian parents and children (0–18 years), (2) identify adults and families most at risk of poor mental health outcomes, and (3) identify factors to target through clinical and public health intervention to reduce risk. Specifically, this study will investigate the extent to which the COVID-19 pandemic is associated with increased risk for parents’ mental health, lower well-being, loneliness, and alcohol use; parent-parent and parent-child relationships (both verbal and physical); and child and adolescent mental health problems.MethodsThe study aims to recruit a close to representative sample of at least 2,000 adults aged 18 years and over living in Australia who are parents of a child 0–4 years (early childhood, N = 400), 5–12 years (primary school N = 800), and 13–18 years (secondary school, N = 800). The design will be a longitudinal cohort study using an online recruitment methodology. Participants will be invited to complete an online baseline self-report survey (20 min) followed by a series of shorter online surveys (10 min) scheduled every 2 weeks for the duration of the COVID-19 pandemic (i.e., estimated to be 14 surveys over 6 months).ResultsThe study will employ post stratification weights to address differences between the final sample and the national population in geographic communities across Australia. Associations will be analyzed using multilevel modeling with time-variant and time-invariant predictors of change in trajectory over the testing period.ConclusionsThis study will provide timely information on the mental health impacts of the COVID-19 crisis on parents and children in Australia; identify communities, parents, families, and children most at risk of poor outcomes; and identify potential factors to address in clinical and public health interventions to reduce risk.

Experiences of abuse in Australian family carers and predictors of mental health and well-being.

Caregivers for family or friends who are elderly people or have a disability provide critical supports, with a range of positive and negative consequences associated with their role. This research explores the positive and negative aspects of care-giving, including the experience of abuse within the caring relationship, through an anonymous online survey of the mental health, well-being and caring experience of Australian family carers (N=305). The voluntary participants were recruited through local and national carer associations. Over 40% of respondents reported having experienced abuse by the person they cared for, with the most common form of abuse being verbal abuse (35% of the respondents reporting abuse) and physical abuse (14%). The experience of abuse was related to poorer mental health as measured by the DASS-21 and a lower reported quality of life. Financial stress, lack of support and the negative impacts of care-giving were also significantly associated with mental health and well-being outcomes. The current research is among the first to directly assess the experience of abuse within a broad sample of caregivers, identifying this as a significant issue for caregivers. The findings have clear implications for programs and policies that protect the rights, safety and well-being of caregivers.