How stable is the well-being of Australian mothers who care for young children with special health care needs?

Ninety-seven percent of children who have special health care needs are cared for by their mothers. These mothers cite that their informal care work can be intrinsically rewarding, however, the role is not without substantial difficulties and consequences. We investigated differences in the health and well-being of mothers whose young children do and do not have special health care needs. Quantitative data are drawn from Growing Up in Australia: The Longitudinal Study of Australian Children. This study employs a matched-case control methodology to compare the experiences of a group of 292 mothers whose children are identified as having long term special health care needs to those mothers whose children are typically developing at two time points; Wave 1 (2004) and Wave 3 (2008). The findings support previous research that mothers of children with special health care needs have poorer general health and mental health than mothers whose children do not have special needs. Mothers of children with special health care needs also perceived life as more difficult. Longitudinally, this study also shows that maternal well-being remains relatively stable during the years when children are transitioning to formal schooling. Implications for policy makers, practitioners and early childhood professionals are discussed.

Mandatory reporting laws

As part of the effort to protect children from significant abuse and neglect, each state and territory in Australia has enacted legislation commonly known as "mandatory reporting laws". There is much confusion about the nature and effects of these laws, both generally and within each jurisdiction. Accordingly, the main aim of this chapter is to review and explain the legislative principles across Australia. In doing so, the chapter will identify differences between the state and territory laws and will situate the laws as part of a system of responses to the whole spectrum of child abuse and neglect. We will also highlight the need for effective reporter training and public awareness, especially given the tension between the widely perceived need for a community response to child abuse and neglect and the simultaneous concern to avoid unnecessary reporting of innocuous events and situations.

Female genital cutting : An overview of Australian legal principles, ethical controversies, and medical, legal and social challenges

Female genital cutting (also often called female genital mutilation, or female circumcision) is a cultural practice that originated thousands of years ago. Female genital cutting has various forms, some of which are more invasive than others, but all of which produce health, legal and social consequences for those involved. Due to patterns of immigration in Australia, especially since the 1990s, there are women in Australia who have experienced female genital cutting. There may be some families, or some parents, who still hold a cultural commitment to female genital cutting. As a result, female genital cutting presents complex legal, ethical, medical and social challenges in contemporary Australian society. Medical practitioners and other health and welfare workers may encounter women who have experienced genital cutting and who require treatment for its sequelae. Currently, legislative frameworks for female genital cutting vary across states and territories, including the penalties for conducting it, and for removing a child for the purpose of conducting it outside Australia. This presentation provides an overview of the history, nature and consequences of the various forms of female genital cutting, and of the major Australian legal principles, ethical controversies, and medical, legal and social challenges in this field.

Teachers facilitating support for young children experiencing parental separation and divorce

This paper reports on a study of Australian early childhood teachers’ pedagogical practices with young children experiencing parental separation and divorce. Twenty-one semi-structured interviews and a focus group were conducted to explore the actions of teachers to support young children experiencing parental separation and divorce. A grounded theory approach was used to analyse data. Teachers reported actions that were focussed on constructing emotional, behavioural, and academic support for young children, as well as forming partnerships with parents, school personnel, and community members to assist. Results are discussed in terms of the implications for professional practice.

Exploring parents' beliefs about their young child's physical activity and screen time behaviours

Drawing on the belief-based framework of the theory of planned behaviour, 20 adults living in Queensland, Australia participated in semi-structured interviews to elicit salient beliefs regarding their young child’s physical activity (PA) and screen time behaviours. Data were analysed separately for PA and screen time with a range of beliefs emerging that guided parents’ decisions for these important health behaviours. Underlying advantages (e.g., improve family interactions, improve child behaviour), disadvantages (e.g., mess and noise factor, increase in parental distress), barriers (e.g., lack of time, parental fatigue), and facilitators (e.g., access to parks, social support) to engaging their child in adequate PA and limited screen time emerged. Normative pressures were also identified as affecting parents’ decisions for their child in these contexts. Parents experience unique difficulties in engaging their child in adequate PA and limited screen time that interventions can draw on when designing and implementing programs aimed at modifying these important child health behaviours.

Non-major-histocompatibility-complex genetics of ankylosing spondylitis

There is strong evidence from twin and family studies indicating that a substantial proportion of the heritability of susceptibility to ankylosing spondylitis (AS) and its clinical manifestations is encoded by non-major-histocompatibility-complex genes. Efforts to identify these genes have included genomewide linkage studies and candidate gene association studies. One region, the interleukin (IL)-1 gene complex on chromosome 2, has been repeatedly associated with AS in both Caucasians and Asians. It is likely that more than one gene in this complex is involved in AS, with the strongest evidence to date implicating IL-1A. Identifying the genes underlying other linkage regions has been difficult due to the lack of obvious candidates and the low power of most studies to date to identify genes of the small to moderate magnitude that are likely to be involved. The field is moving towards genomewide association analysis, involving much larger datasets of unrelated cases and controls. Early successes using this approach in other diseases indicates that it is likely to identify genes in common diseases like AS, but there remains the risk that the common-variant, common-disease hypothesis will not hold true in AS. Nonetheless, it is appropriate for the field to be cautiously optimistic that the next few years will bring great advances in our understanding of the genetics of this condition.

The role of germline polymorphisms in the T-cell receptor in susceptibility to ankylosing spondylitis

The role of germline polymorphisms of the T-cell receptor A/D and B loci in susceptibility to ankylosing spondylitis was investigated by linkage studies using microsatellite markers in 215 affected sibling pairs. The presence of a significant susceptibility gene (lambda ≤ 1.6) at the TCRA/D locus was excluded (LOD score < -2.0). At the TCRB locus, there was weak evidence of the presence of a susceptibility gene (P = 0.01, LOD score 1.1). Further family studies will be required to determine whether this is a true or false-positive finding. It is unlikely that either the TCRA/D or TCRB loci contain genes responsible for more than a moderate proportion of the non-MHC genetic susceptibility to ankylosing spondylitis.

Defining a developmental subtype of bipolar disorder in a sample of nonreferred adults by age at onset

Objective To test the hypothesis that the age at onset of bipolar disorder would identify a developmental subtype of bipolar disorder in adults characterized by increased levels of irritability, chronic course, rapid cycling, and comorbidity with attention deficit hyperactivity disorder. Methods Forty-four adult subjects diagnosed with bipolar disorder were selected from large family studies of youth with and without attention deficit hyperactivity disorder. These subjects were stratified by the age at onset in childhood (younger than 13 years; n = 8, 18%), adolescence (13–18 years; n = 12, 27%, or adulthood (older than 19 years; n = 24, 55%). All subjects were administered structure diagnostic interviews and a brief cognitive battery. Results In contrast with adult-onset bipolar disorder, child-onset bipolar disorder was associated with a longer duration of illness, more irritability than euphoria, a mixed presentation, a more chronic or rapid-cycling course, and increased comorbidity with childhood disruptive behavior disorders and anxiety disorders. Conclusion Stratification by age at onset of bipolar disorder identified subgroups of adult subjects with differing clinical correlates. This pattern of correlates is consistent with findings documented in children with pediatric bipolar disorder and supports the hypothesis that child-onset bipolar disorder may represent a developmental subtype of the disorder.

Vääränikäisiä äitejä? : Ikä ja äitiyden yhteiskunnalliset ehdot

This dissertation reports on research on the contradictions between “right-aged” motherhood accordant with normative life-course and the motherhood of a woman who lives her life according to her own choices and options. The focus of this study is to analyse and interpret the motherhood of women who have become mothers for the first time both at a very young age (under 20) and at an older age (in their 40s), from the viewpoint of life-course, age and social class. The study discusses motherhood both as an experience and as a socially-constructed phenomenon. Research questions are the following: How do mothers at different ages talk about pregnancy and motherhood as a part of their life-course? What meanings do mothers at different ages give to age, growing up and adulthood? How is social class constructed in the speech of different-aged mothers? This dissertation includes five articles and a summary chapter. The theoretical starting points for the study are Finnish critical family studies, Finnish feminist social policy studies and Anglo-American feminist motherhood studies. Additionally, this study draws on sociological age studies and new sociological social class studies. The methodological approach is discursive-materialistic. This approach recognises issues related to language, cultural representation and subjectivity, but it also aims to locate them in their social and historical context. The data is drawn from twenty-four interviews of different-aged mothers and articles collected from popular magazines on babies and parenting. In the interview data, different issues related to motherhood are constructed due not only to the women’s age, but also their social background. Social class becomes visible in the relationship between the interviewed women and nuclear family, expert knowledge or money and livelihood. In this study, social class and age are intertwined. It is almost impossible to analytically distinguish which of the mothers’ experiences are related to class and which are related to age. In this study, young motherhood is shown as quite positive. Even though the interviewed young women did not usually plan to have a child, it was not a great shock either. In the young mothers’ speech, motherhood appears as a natural part of the life-course and growing up. The conditions young mothers suggested as necessary to good motherhood do not depend on standard of living, education or social background. A young age is seen as a resource, not as an obstacle to good motherhood. Postponing one’s motherhood is associated with materialism and a career-oriented lifestyle. The older mothers in this study rarely reported having postponed their motherhood on purpose. Some of them explained the delay with extended studies or financial insecurity caused by part-time unemployment. Others recounted they had been insecure about their abilities to cope with a child or lacked a suitable partner. Some of them may have wanted a child much earlier in life, given the right circumstances. In the older mothers’ speech, motherhood is strongly associated with adult life, permanent employment and a (heterosexual) nuclear family.

Lapsi, lapsuus ja perhe varhaiskasvatusasiakirjoissa 1967-1999

The aim of this study is to describe and interpret discourses in Finnish national early childhood education and care (ECEC) documents concerning the child, childhood and family, including preschool education of six-year-old children. The study begins with preparation phase of the Act on Children s Day Care (1967) and concludes with the definition of ECEC policy (1999). The research data consists of committee memoranda and national ECEC curriculum guidelines. The total number of documents studied was 20, comprising some 1700 pages. The research data was examined with qualitative text analysis and employed a discursive approach. A semiotic square (Greimas rectangle) served as a tool for clarifying the discourses and constructions reflected in the research data. The theoretical framework of the study consists of the theories of childhood and family studies. The main concepts from childhood studies used in this study were childhood as a cultural construct and child-centred pedagogy in ECEC. The theoretical approaches from family studies used were the formation of modern and late-modern parenthood and family, as well as the concept of familism. Two main discursive lines were constructed from the ECEC documents. The notion of universalistic childhood suggests that early education and care aim to create the same good childhood for all children, regardless of their family background or living area. The second discursive line followed in the documents is the familistic discourse. This discourse contains emphasis on the priority of parental care. The construct of the competent child was found in the research data as early as in the mid-1970s. On the other hand, the construct of the weak family is distinguishable throughout almost the entire research period. This raises the question of whether Finnish ECEC system has been developed for the competent and self-sufficient child of a weak family which needs constant support and guidance of welfare experts. According to the study, it appears that within the Finnish ECEC system the relatively heavy emphasis on social work rather than on early education has been legitimised by the construct of the weak family. This study also shows that a more thorough analysis should be given to what we mean when we say that the main task of ECEC system is to support families in the upbringing of their children. The study was completed during the period when historical decisions concerning the administration in Finland were in the making (i.e. the potential transfer of ECEC services from the Ministry of Social Affairs and Health to the Ministry of Education). Also, over the past decade, a major reformation of the Act on Children s Daycare has been on the agenda, but no concrete measures have been implemented. Based on the findings of this study, we can ask for what kind of child and family we are preparing the ECEc reforms of the new millennium. Key words: ECEC policy Finland, childhood, family, familism, discourse analysis, semiotic square

Examination of Genetic Components Affecting Human Obesity-Related Quantitative Traits

Obesity increases the risk for several conditions, including type 2 diabetes mellitus, cardiovascular disease, hypertension, osteoarthirits and certain types of cancer. Twin- and family studies have shown that there is a major genetic component in the determination of body mass. In recent years several technological and scientific advance have been made in obesity research. For instance, novel replicated loci have been revealed by a number of genome wide association studies. This thesis aimed to investigate the association of genetic factors and obesity-related quantitative traits. The first study investigated the role of the lactase gene in anthropometric traits. We genetically defined lactose persistence by genotyping 31 720 individuals of European descent. We found that lactase persistence was significantly correlated with weight and body mass index but not with height. In the second study we performed the largest whole genome linkage scan for body mass index to date. The sample consisted of 4401 twin families and 10 535 individuals from six European countries. We found supporting evidence for two loci (3q29 and 7q36). We observed that the heritability estimate increased substantially when additional family members were removed from the analyses, which suggests reduced environmental variance in the twin sample. In the third study we assessed metabonomic, transcriptomic and genomic variation in a Finnish population cohort of 518 individuals. We formed gene expression networks to portray pathways and showed that a set of highly correlated genes of an inflammatory pathway associated with 80 serum metabolites (of 134 quantified measures). Strong association was found, for example, with several lipoprotein subclasses. We inferred causality by using genetic variation as anchors. The expression of the network genes was found to be dependent on the circulatory metabolite concentrations.

GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors

Serum butyrylcholinesterase (BCHE) activity is associated with obesity, blood pressure and biomarkers of cardiovascular and diabetes risk. We have conducted a genome-wide association scan to discover genetic variants affecting BCHE activity, and to clarify whether the associations between BCHE activity and cardiometabolic risk factors are caused by variation in BCHE or whether BCHE variation is secondary to the metabolic abnormalities. We measured serum BCHE in adolescents and adults from three cohorts of Australian twin and family studies. The genotypes from approximately 2.4 million single-nucleotide polymorphisms (SNPs) were available in 8791 participants with BCHE measurements. We detected significant associations with BCHE activity at three independent groups of SNPs at the BCHE locus (P = 5.8 x 10(-262), 7.8 x 10(-47), 2.9 x 10(-12)) and at four other loci: RNPEP (P = 9.4 x 10(-16)), RAPH1-ABI2 (P = 4.1 x 10(-18)), UGT1A1 (P = 4.0 x 10(-8)) and an intergenic region on chromosome 8 (P = 1.4 x 10(-8)). These loci affecting BCHE activity were not associated with metabolic risk factors. On the other hand, SNPs in genes previously associated with metabolic risk had effects on BCHE activity more often than can be explained by chance. In particular, SNPs within FTO and GCKR were associated with BCHE activity, but their effects were partly mediated by body mass index and triglycerides, respectively. We conclude that variation in BCHE activity is due to multiple variants across the spectrum from uncommon/large effect to common/small effect, and partly results from (rather than causes) metabolic abnormalities.

Molecular genetics of tooth agenesis

Congenital missing of teeth, tooth agenesis or hypodontia, is one of the most common developmental anomalies in man. The common forms in which one or a few teeth are absent, may cause occlusal or cosmetic harm, while severe forms which are relatively rare always require clinical attention to support and maintain the dental function. Observation of tooth agenesis is also important for diagnosis of malformation syndromes. Some external factors may cause developmental defects and agenesis in dentition. However, the role of inheritance in the etiology of tooth agenesis is well established by twin and family studies. Studies on familial tooth agenesis as well as mouse null mutants have also identified several genetic factors. However, these explain syndromic or rare dominant forms of tooth agenesis, whereas the genes and defects responsible for the majority of cases of tooth agenesis, especially the common and less severe forms, are largely unknown. In this study it was shown, that a dominant nonsense mutation in PAX9 was responsible for severe tooth agenesis (oligodontia) in a Finnish family. In a study of tooth agenesis associated with Wolf-Hirschhorn syndrome, it was shown that severe tooth agenesis was present if the causative deletion in 4p spanned the MSX1 locus. It was concluded that severe tooth agenesis was caused by haploinsufficiency of these transcription factors. A summary of the phenotypes associated with known defects in MSX1 and PAX9 showed that, despite similarities, they were significantly different, suggesting that the genes, in addition to known interactions, also have independent roles during the development of human dentition. The original aim of this work was to identify gene defects that underlie the common incisor and premolar hypodontia. After excluding several candidate genes, a genome-wide search was conducted in seven Finnish families in which this phenotype was inherited in an autosomal dominant manner. A promising locus for second premolar agenesis was identified in chromosome 18 in one family and this finding was supported by results from other families. The results also implied the existence of other loci both for second premolar agenesis and for incisor agenesis. On the other hand the results did not lend support for comprehensive involvement of the most obvious candidate genes in the etiology of incisor and premolar hypodontia. Rather, they suggest remarkable genetic heterogeneity of tooth agenesis. The available evidence suggests that quantitative defects during tooth development predispose to a failure to overcome a developmental threshold and to agenesis. The results of the study increase the understanding of the etiology and heredity of tooth agenesis. Further studies may lead to identification of novel genes that affect the development of teeth.

Identification of loci for migraine with aura

Common migraine, i.e. migraine with (MA) or without aura (MO), is a chronic neurological disorder affecting about 10% of the Caucasian population. In MA, migraine headache is preceded by visual, sensoric and/or dysphasic reversible aura symptoms. Twin and family studies have suggested a multifactorial mode of inheritance for common migraine, and a stronger genetic component for MA than for MO. Since there is no biological or genetic marker to identify common migraine, aura symptoms provide a distinctive character to identify those suspected of suffering from migraine. The aim of this study was to identify MA susceptibility loci in well-phenotyped migraine samples with familial predisposition using different gene mapping methods. Genes coding for endothelin1 and its receptors EDNRA and ENDRB are potential candidate genes for cortical spreading depression (CSD), which is considered to be the underlying mechanism of migraine aura. The role of these genes in MA was studied in 850 Finnish migraine cases and 890 control individuals. Rare homozygous EDNRA SNPs showed nominal association with MA and with the age of onset trait (20 years). This result was also detected in the pooled analysis on 648 German MA cases and 651 control individuals when the test was adjusted for gender and sample origin. Evaluation of SNP genotyping reactions with two different DNA polymerase enzymes ensured that the genotype quality was high, and thus the discovered associations are considered reliable. The role of the 19p13 region was studied in a linkage analysis of 72 Finnish MA families. This region contains two migraine-associated genes: CACNA1A, which is associated with a predisposition to a rare Mendelian form of MA, familial hemiplegic migraine (FHM), and the insulin receptor gene (INSR) that is associated with common migraine. No evidence of linkage between the 19p13 and MA was detected. A novel visual aura locus was mapped to chromosome 9q21-q22 with significant evidence of linkage using a genome-wide linkage approach in 36 Finnish MA families. Five additional, potential loci were also detected. The 9q21-q22 region has previously been linked to occipitotemporal lobe epilepsy and MA, both of which involve prominent visual symptoms. Our result further supports a shared background for these episodic disorders.

Understanding who cares: Creating the evidence to address the long-standing policy problem of staff shortages in early childhood education and care

Evidence-based policy is a means of ensuring that policy is informed by more than ideology or expedience. However, what constitutes robust evidence is highly contested. In this paper, we argue policy must draw on quantitative and qualitative data. We do this in relation to a long entrenched problem in Australian early childhood education and care (ECEC) workforce policy. A critical shortage of qualified staff threatens the attainment of broader child and family policy objectives linked to the provision of ECEC and has not been successfully addressed by initiatives to date. We establish some of the limitations of existing quantitative data sets and consider the potential of qualitative studies to inform ECEC workforce policy. The adoption of both quantitative and qualitative methods is needed to illuminate the complex nature of the work undertaken by early childhood educators, as well as the environmental factors that sustain job satisfaction in a demanding and poorly understood working environment.