Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095), a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP) complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia. © 2011 Glazov et al.

Contemporary issues in Australian family law: Do we need a more unified and interventionist judicial model

Recent decisions of the Family Court of Australian reflect concerns over the adversarial nature of the legal process. The processes and procedures of the judicial system militate against a detailed examination of the issues and rights of the parties in dispute. The limitations of the family law framework are particularly demonstrated in disputes over the custody of children where the Court has tended to neglect the rights and interests of the primary carer. An alternative "unified family court" framework will be examined in which the Court pursues a more active and interventionist approach in the determination of family law disputes.

'We just make the pictures...?' How work is portrayed in children's feature length films

This article explores how adult paid work is portrayed in 'family' feature length films. The study extends previous critical media literature which has overwhelmingly focused on depictions of gender and violence, exploring the visual content of films that is relevant to adult employment. Forty-two G/PG films were analyzed for relevant themes. Consistent with the exploratory nature of the research, themes emerged inductively from the films' content. Results reveal six major themes: males are more visible in adult work roles than women; the division of labour remains gendered; work and home are not mutually exclusive domains; organizational authority and power is wielded in punitive ways; there are avenues to better employment prospects; and status/money is paramount. The findings of the study reflect a range of subject matters related to occupational characteristics and work-related communication and interactions which are typically viewed by children in contemporary society.

Literacy, numeracy and learning in school-aged children identified as having speech and language impairment in early childhood

The progress of a nationally representative sample of 3632 children was followed from early childhood through to primary school, using data from the Longitudinal Study of Australian Children (LSAC). The aim was to examine the predictive effects of different aspects of communicative ability, and of early vs. sustained identification of speech and language impairment, on children's achievement and adjustment at school. Four indicators identified speech and language impairment: parent-rated expressive language concern; parent-rated receptive language concern; use of speech-language pathology services; below average scores on the adapted Peabody Picture Vocabulary Test-III. School outcomes were assessed by teachers' ratings of language/literacy ability, numeracy/mathematical thinking and approaches to learning. Comparison of group differences, using ANOVA, provided clear evidence that children who were identified as having speech and language impairment in their early childhood years did not perform as well at school, two years later, as their non-impaired peers on all three outcomes: Language and Literacy, Mathematical Thinking, and Approaches to Learning. The effects of early speech and language status on literacy, numeracy, and approaches to learning outcomes were similar in magnitude to the effect of family socio-economic factors, after controlling for child characteristics. Additionally, early identification of speech and language impairment (at age 4-5) was found to be a better predictor of school outcomes than sustained identification (at aged 4-5 and 6-7 years). Parent-reports of speech and language impairment in early childhood are useful in foreshadowing later difficulties with school and providing early intervention and targeted support from speech-language pathologists and specialist teachers.

Torres Strait Island parents' involvement in their children's mathematics learning : a discussion paper

This paper is a beginning point for discussing what the literature states about parents’ involvement in their children’s mathematics education. Where possible it will focus on Torres Strait Islander Peoples. Little is known about how Torres Strait Islander parents approach their children’s learning of mathematics and how important early mathematics is to mothers. What is known is that is they are keen for their children to receive an education that provides them with opportunities for their present and future lives. However, gaining access to education is challenging given that the language of instruction in schools is written to English conventions, decontextualised and disconnected from the students’ culture, community and home language. This paper discusses some of the issues raised in the literature about what parents are confronted with when making decisions about their children’s education.

The efficacy of an augmented virtual reality system to alleviate pain in children undergoing burns dressing changes : a randomised controlled trial

In children, the pain and anxiety associated with acute burn dressing changes can be severe, with drug treatment alone frequently proving to be inadequate. Virtual reality (VR) systems have been successfully trialled in limited numbers of adult and paediatric burn patients. Augmented reality (AR) differs from VR in that it overlays virtual images onto the physical world, instead of creating a complete virtual world. This prospective randomised controlled trial investigated the use of AR as an adjunct to analgesia and sedation in children with acute burns. Forty-two children (30 male and 12 female), with an age range of 3–14 years (median age 9 years) and a total burn surface area ranging from 1 to 16% were randomised into a treatment (AR) arm and a control (basic cognitive therapy) arm after administration of analgesia and/or sedation. Pain scores, pulse rates (PR), respiratory rates (RR) and oxygen saturations (SaO2) were recorded pre-procedurally, at 10 min intervals and post-procedurally. Parents were also asked to grade their child's overall pain score for the dressing change. Mean pain scores were significantly lower (p = 0.0060) in the AR group compared to the control group, as were parental pain assessment scores (p = 0.015). Respiratory and pulse rates showed significant changes over time within groups, however, these were not significantly different between the two study groups. Oxygen saturation did not differ significantly over time or between the two study groups. This trial shows that augmented reality is a useful adjunct to pharmacological analgesia.

Reducing the risk of posttraumatic stress disorder in children following natural disasters

A significant number of children suffer long term psychological disturbance following exposure to a natural disaster. Evidence suggests that a dose-response relationship exists, so that children and adolescents who experience the most intense or extensive exposure to the risk factors for PTSD are likely to develop the most serious and persistent symptoms. Risk factors include gender, age, personality, extent of exposure to the natural disaster, amount of damage to property and infrastructure, witnessing injury or death of others or perceiving a threat to their own life. Knowing these factors enables various strategies to be put in place to decrease the risk of psychological disturbance following the aftermath of traumatic events. Re-establishing a sense of safety, security and normality is important in the aftermath of a natural disaster, and promoting social connectedness, positive family functioning, and effective coping mechanisms can make children more resilient in the face of catastrophic events. This paper examines the risk and protective factors associated with the development of post traumatic stress disorder (PTSD), and considers how schools can use this knowledge to contribute to the recovery effort, and reduce the prevalence of PTSD amongst pupils in the wake of a natural disaster.

Combining the parts to make the whole : integrated child and family services in Queensland

Over the past decade, the promotion of 'integrated child and family services' has emerged as a strong and consistent theme within Australian early childhood policy. Fuelling this trend is the belief that integrated service provision is more responsive to holistic family needs, offering better support to parents and thereby promoting better outcomes for young children. Adding further strength is the prevention and early intervention literature, and suggested social and economic benefits of 'effective' early years services and supports. States and territories are introducing new integrated child and family service models and Reflections is continuing to profile these. In this edition, we look at directions and new service models in Queensland, in particular, the new Early Years Centre service model.

Family-focused weight management program for five- to nine-year-olds incorporating parenting skills training with healthy lifestyle information to support behaviour modification

his case study aims to describe how general parenting principles can be used as part of parent-led, family-focused child weight management that is in line with current Australian Clinical Practice Guidelines. A parent-led, family-focused child weight management program was designed for use by dietitians with parents of young children (five- to nine-year-olds). The program utilises the cornerstones of overweight treatment: diet, activity, behaviour modification and family support delivered in an age-appropriate, family-focused manner. Parents participate in 16 sessions (4 parenting-focused, 8 lifestyle-focused and 4 individual telephone support calls) conducted weekly, fortnightly then monthly over six months. This case study illustrates how a family used the program, resulting in reduced degree of overweight and stabilised waist circumference in the child over 12 months. In conclusion, linking parenting skills to healthy family lifestyle education provides an innovative approach to family-focused child weight management. It addresses key Australian Clinical Practice Guidelines, works at the family level, and provides a means for dietitians to easily adopt age-appropriate behaviour modification as part of their practice.

An assessment of the potential of family day care as a nutrition promotion setting in South Australia

Articles > Journals > Health journals > Nutrition & Dietetics: The Journal of the Dieticians Association of Australia articles > March 2003 Article: An assessment of the potential of Family Day Care as a nutrition promotion setting in South Australia. (Original Research). Article from:Nutrition & Dietetics: The Journal of the Dieticians Association of Australia Article date:March 1, 2003 Author:Daniels, Lynne A.; Franco, Bunny; McWhinnie, Julie-Anne CopyrightCOPYRIGHT 2006 Dietitians Association of Australia. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights or concerns about this content should be directed to customer service. (Hide copyright information) Related articles Ads by Google TAFE Child Care Courses Government accredited courses. Study anytime, anywhere. www.seeklearning.com.au Get Work in Child Care Certificate III Children's Services 4 Day Course + Take Home Assessment HBAconsult.com.au Abstract Objective: To assess the potential role of Family Day Care in nutrition promotion for preschool children. Design and setting: A questionnaire to examine nutrition-related issues and practices was mailed to care providers registered in the southern region of Adelaide, South Australia. Care providers also supplied a descriptive, qualitative recall of the food provided by parents or themselves to each child less than five years of age in their care on the day closest to completion of the questionnaire. Subjects: 255 care providers. The response rate was 63% and covered 643 preschool children, mean 4.6 (SD 2.8) children per carer. Results: There was clear agreement that nutrition promotion was a relevant issue for Family Day Care providers. Nutrition and food hygiene knowledge was good but only 54% of respondents felt confident to address food quality issues with parents. Sixty-five percent of respondents reported non-neutral approaches to food refusal and dawdling (reward, punishment, cajoling) that overrode the child's control of the amount eaten. The food recalls indicated that most children (> 75%) were offered fruit at least once. Depending on the hours in care, (0 to 4, 5 to 8, greater than 8 hours), 20%, 32% and 55%, respectively, of children were offered milk and 65%, 82% and 87%, respectively, of children were offered high fat and sugar foods. Conclusions: Questionnaire responses suggest that many care providers are committed to and proactive in a range of nutrition promotion activities. There is scope for strengthening skills in the management of common problems, such as food refusal and dawdling, consistent with the current evidence for approaches to early feeding management that promote the development of healthy food preferences and eating patterns. Legitimising and empowering care providers in their nutrition promotion role requires clear policies, guide lines, adequate pre- and in-service training, suitable parent materials, and monitoring.

Vulnerability factors for disaster-induced child post-traumatic stress disorder : the case for low family resilience and previous mental illness

Objective: The aim of the present study was to investigate whether parent report of family resilience predicted children’s disaster-induced post-traumatic stress disorder (PTSD) and general emotional symptoms, independent of a broad range of variables including event-related factors, previous child mental illness and social connectedness. ---------- Methods: A total of 568 children (mean age = 10.2 years, SD = 1.3) who attended public primary schools, were screened 3 months after Cyclone Larry devastated the Innisfail region of North Queensland. Measures included parent report on the Family Resilience Measure and Strengths and Difficulties Questionnaire (SDQ)–emotional subscale and child report on the PTSD Reaction Index, measures of event exposure and social connectedness. ---------- Results: Sixty-four students (11.3%) were in the severe–very severe PTSD category and 53 families (28.6%) scored in the poor family resilience range. A lower family resilience score was associated with child emotional problems on the SDQ and longer duration of previous child mental health difficulties, but not disaster-induced child PTSD or child threat perception on either bivariate analysis, or as a main or moderator variable on multivariate analysis (main effect: adjusted odds ratio (ORadj) = 0.57, 95% confidence interval (CI) = 0.13–2.44). Similarly, previous mental illness was not a significant predictor of child PTSD in the multivariate model (ORadj = 0.75, 95%CI = 0.16–3.61). ---------- Conclusion: In this post-disaster sample children with existing mental health problems and those of low-resilience families were not at elevated risk of PTSD. The possibility that the aetiological model of disaster-induced child PTSD may differ from usual child and adolescent conceptualizations is discussed.

Children and consent to medical treatment

This chapter deals with the law concerning children and consent to medical treatment. Where a child under the age of 18 requires medical treatment, issues arise as to who may lawfully consent to the treatment and under what circumstances. Depending on the circumstances, consent may be given by the child’s parent or guardian; the child; or a court. The chapter provides a thorough treatment of Australian law about these issues and circumstances.

Infant and young child feeding indicators and determinants of poor feeding practices in India : secondary data analysis of National Family Health Survey 2005–06

Background: In India, poor feeding practices in early childhood contribute to the burden of malnutrition and infant and child mortality. Objective. To estimate infant and young child feeding indicators and determinants of selected feeding practices in India. Methods: The sample consisted of 20,108 children aged 0 to 23 months from the National Family Health Survey India 2005–06. Selected indicators were examined against a set of variables using univariate and multivariate analyses. Results: Only 23.5% of mothers initiated breastfeeding within the first hour after birth, 99.2% had ever breastfed their infant, 89.8% were currently breastfeeding, and 14.8% were currently bottle-feeding. Among infants under 6 months of age, 46.4% were exclusively breastfed, and 56.7% of those aged 6 to 9 months received complementary foods. The risk factors for not exclusively breastfeeding were higher household wealth index quintiles (OR for richest = 2.03), delivery in a health facility (OR = 1.35), and living in the Northern region. Higher numbers of antenatal care visits were associated with increased rates of exclusive breastfeeding (OR for ≥ 7 antenatal visits = 0.58). The rates of timely initiation of breastfeeding were higher among women who were better educated (OR for secondary education or above = 0.79), were working (OR = 0.79), made more antenatal clinic visits (OR for ≥ 7 antenatal visits = 0.48), and were exposed to the radio (OR = 0.76). The rates were lower in women who were delivered by cesarean section (OR = 2.52). The risk factors for bottle-feeding included cesarean delivery (OR = 1.44), higher household wealth index quintiles (OR = 3.06), working by the mother (OR=1.29), higher maternal education level (OR=1.32), urban residence (OR=1.46), and absence of postnatal examination (OR=1.24). The rates of timely complementary feeding were higher for mothers who had more antenatal visits (OR=0.57), and for those who watched television (OR=0.75). Conclusions: Revitalization of the Baby Friendly Hospital Initiative in health facilities is recommended. Targeted interventions may be necessary to improve infant feeding practices in mothers who reside in urban areas, are more educated, and are from wealthier households.