Season of birth and location of residence: Defining the role of ultraviolet radiation exposure on childhood temperament and behaviour

This thesis added new insight to research knowledge about the role that season and ultraviolet radiation (UV) exposure during pregnancy has on children's temperament and behaviours, using a nation-wide longitudinal study. It was found that young children born in summer months are likely to have problematic behaviours. The thesis also found that summer-born children are likely to receive lowest levels of UV exposure during the gestational period. Finally, this work showed that low gestational UV exposure is associated with an increased risk of behavioural problems in children.

The schooling experience of adolescent boys with AD/HD: An Australian case study

This study explored the experience of schooling of six adolescent boys diagnosed with AD/HD from the perspectives of the boys, their mothers and their teachers. The study utilised social constructionism as the theoretical orientation and the Dynamic Developmental Theory (DDT) of AD/HD as the explanatory framework. Utilising a multiple, instrumental case-study, data were collected by means of semi-structured individual and focus group interviews as well as a review of school reports across a two year period. Findings of the study suggest that taking medication as prescribed together with supporting the students to make and manage friendships, utilising classroom strategies that support learning, and providing an engaging classroom environment are important considerations to promote a positive schooling experience for adolescents with AD/HD.

Leukoencephalopathies in childhood : Delineation of phenotypes

Within the last 15 years, several new leukoencephalopathies have been recognized. However, more than half of children with cerebral white matter abnormalities still have no specific diagnosis. Our aim was to classify unknown leukoencephalopathies and to identify new diseases among them. During the study, three subgroups of patients were delineated and examined further. First, we evaluated 38 patients with unknown leukoencephalopathy. Brain MRI findings were grouped into seven categories according to the predominant location of the abnormalities. The largest subgroups were myelination abnormalities (n=20) and periventricular white matter abnormalities (n=12). Six patients had uniform MRI findings with signal abnormalities in hemispheric white matter and in selective brain stem and spinal cord tracts. Magnetic resonance spectroscopy (MRS) showed elevated lactate and decreased N-acetylaspartate in the abnormal white matter. The patients presented with ataxia, tremor, distal spasticity, and signs of dorsal column dysfunction. This phenotype - leukoencephalopathy with brain stem and spinal cord involvement and elevated white matter lactate (LBSL) - was first published elsewhere in 2003. A new finding was development of a mild axonal neuropathy. The etiopathogenesis of this disease is unknown, but elevated white matter lactate in MRS suggests a mitochondrial disorder. Secondly, we studied 22 patients with 18q deletions. Clinical and MRI findings were correlated with molecularly defined size of the deletion. All patients with deletions between markers D18S469 and D18S1141 (n=18) had abnormal myelination in brain MRI, while four patients with interstitial deletions sparing that region, had normal myelination pattern. Haploinsufficiency of myelin basic protein is suggested to be responsible for this dysmyelination. Congenital aural atresia/stenosis was found in 50% of the cases and was associated with deletions between markers D18S812 (at 18q22.3) and D18S1141 (at q23). Last part of the study comprised 13 patients with leukoencephalopathy and extensive cerebral calcifications. They showed a spectrum of findings, including progressive cerebral cysts, retinal telangiectasias and angiomas, intrauterine growth retardation, skeletal and hematologic abnormalities, and severe intestinal bleeding, which overlap with features of the previously reported patients with "Coats plus" syndrome and "leukoencephalopathy with calcifications and cysts", suggesting that these disorders are related. All autopsied patients had similar neuropathologic findings showing calcifying obliterative microangiopathy. Our patients may represent an autosomally recessively inherited disorder because there were affected siblings and patients of both sexes. We have started genealogic and molecular genetic studies of this disorder.

Childhood-onset mitochondrial diseases : with emphasis on molecular diagnostics of neurological disorders

Childhood-onset mitochondrial diseases comprise a heterogeneous group of disorders, which may manifest with almost any symptom and affect any tissue or organ. Due to challenging diagnostics, most children still lack a specific aetiological diagnosis. The aim of this thesis was to find molecular causes for childhood-onset mitochondrial disorders in Finland. We identified the underlying cause for 25 children, and found three new diseases, which had not been diagnosed in Finland before. These diseases caused severe progressive infantile-onset encephalomyopathies, and were due to defects in mitochondrial DNA (mtDNA) maintenance. Furthermore, the thesis provides the molecular background of Finnish patients with ‘leukoencephalopathy with brain stem and spinal cord involvement and elevated brain lactate’ (LBSL). A new phenotype was identified to be due to mutations in Twinkle, resembling ‘infantile onset spinocerebellar ataxia’ (IOSCA). These mutations caused mtDNA depletion in the liver, thus confirming the essential role of Twinkle in mtDNA maintenance, and expanding the molecular background of mtDNA depletion syndromes. The major aetiology for infantile mitochondrial myopathy in Finland was discovered to be due to mutations in thymidine kinase 2 (TK2). A novel mutation with Finnish ancestry was identified, and a genotype-phenotype correlation with mutation-specific distribution of tissue involvement was found, thus proving that deficient TK2 may cause multi-tissue depletion and impair neuronal function. This work established the molecular diagnosis and advanced the knowledge of phenotypes among paediatric patients with polymerase gamma (POLG) mutations. The patients showed severe early-onset encephalopathy with intractable epilepsy. POLG mutations are not a prevalent cause of children’s ataxias, although ataxia is a major presenting symptom among adults. Our findings indicate that POLG mutations should be investigated even if typical MRI, histochemical or biochemical abnormalities are lacking. LBSL patients showed considerable variation in phenotype despite identical mutations. A common, most likely European, ancestry, and a relative high carrier frequency of these mutations in Finland were discovered; suggesting that LBSL may be a quite common leukoencephalopathy in other populations as well. The results suggest that MRI findings are so unique that the diagnosis of LBSL is possible to make without genetic studies. This thesis work has resulted in identification of new mitochondrial disorders in Finland, enhancing the understanding of the clinical variability and the importance of tissue-specificity of these disorders. In addition to providing specific diagnosis to the patients, these findings give light to the underlying pathogenetic mechanisms of childhood-onset mitochondrial disorders.

Warning constraint limit experience

'Warning constraint limit experience' is an installation comprising drawings, a large scale fabric work, and a performative video. This work explores the performative act of drawing and the limits of language and subjectivity. The fabric work acts as a bodily extension that both facilitates and constrains movement during the drawing process and operates as a provisional structure for viewing the work in the gallery. This work was developed and presented at The Lock-Up Cultural Centre, Newcastle NSW in 2011 and revised for the solo exhibition ‘I build my dwelling’, held at Metro Arts in 2012.

Protocol for assessing maternal, environmental and epigenetic risk factors for dental caries in children

Background Expenditure on dental and oral health services in Australia is $3.4 billion AUD annually. This is the sixth highest health cost and accounts for 7 % of total national health expenditure. Approximately 49 % of Australian children aged 6 years have caries experience in their deciduous teeth and this is rising. The aetiology of dental caries involves a complex interplay of individual, behavioural, social, economic, political and environmental conditions, and there is increasing interest in genetic predisposition and epigenetic modification. Methods The Oral Health Sub-study; a cross sectional study of a birth cohort began in November 2012 by examining mothers and their children who were six years old by the time of initiation of the study, which is ongoing. Data from detailed questionnaires of families from birth onwards and data on mothers’ knowledge, attitudes and practices towards oral health collected at the time of clinical examination are used. Subjects’ height, weight and mid-waist circumference are taken and Body Mass Index (BMI) computed, using an electronic Bio-Impedance balance. Dental caries experience is scored using the International Caries Detection and Assessment System (ICDAS). Saliva is collected for physiological measures. Salivary Deoxyribose Nucleic Acid (DNA) is extracted for genetic studies including epigenetics using the SeqCap Epi Enrichment Kit. Targets of interest are being confirmed by pyrosequencing to identify potential epigenetic markers of caries risk. Discussion This study will examine a wide range of potential determinants for childhood dental caries and evaluate inter-relationships amongst them. The findings will provide an evidence base to plan and implement improved preventive strategies.

Cooperative game play with avatars and agents: Differences in brain activity and the experience of play

The current study sought to identify the impact of whether teammates in a cooperative videogame were controlled by other humans (avatars) or by the game (agents). The impact on player experience was explored through both subjective questionnaire measures and brain wave activity measurement (electroencephalography). Play with human teammates was associated with a greater sense of relatedness, but less competence and flow than play with other computer-controlled teammates. In terms of brain activity, play with human teammates was associated with greater activity in the alpha, theta and beta power bands than play with computer-controlled teammates. Overall, the results suggest that play with human teammates involves greater cognitive activity in terms of 'mentalising' than play with computer-controlled teammates. Additionally, the associations between subjective measures of player experience and brain activity are described. Limitations of the current study are identified and key directions for future research are discussed.

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.

“Heroic victims”: Discursive constructions of preservice early childhood teacher professional identities

Government policies in Australia and in many other parts of the world, are calling for degree-qualified teachers to work in prior to formal school settings (center-based care, preschool). Yet, many preservice early childhood teachers assume they will end up teaching in primary schools. This paper examines the professional identities preservice early childhood teachers take up and speak into action while participating in classes focused on teaching in child care. Employing poststructural social theory, data drawn from focus groups with preservice early childhood teachers was examined through a Foucauldian-informed discourse analysis. Particular ways in which the preservice teachers talked about images of children and quality in early childhood are scrutinized for how discourses work to constitute the professional identities of preservice early childhood teachers. It was found that the participants drew on a range of competing discourses available to them, through their degree, and from elsewhere to describe the work of teaching young children and teaching in child care. These competing and colliding discourses, it is argued produce an identity of preservice teachers as ‘heroic victims.’ The paper raises questions about the discourses in circulation in preservice early childhood teacher education, and considers the implications this has for professional identities and career pathways—particularly work in child care.

Governing child care in neoliberal times: Discursive constructions of children as economic units and early childhood educators as investment brokers

At any given time in the field of early childhood, there are discourses at play, producing images of children, and these ways of seeing children might be competing, colliding and/or complementing each other. It is fairly widely accepted that in many countries there are versions of dominant discourses that shape and are shaped by current practices in the field of early childhood. These include (1) romantic notions of children running free and connecting with nature and (2) the ‘Bart Simpson’ version of the naughty, cute or savage child, untamed and in need of civilising. These are far from being the only two discursive constructions of children present in current policies and practices. If early childhood professionals are to be active in shaping and implementing policies that affect their work and workforce, it is important that they are aware of the forces at play. In this article, we point to another powerful discourse at play in the Australian context of early childhood education, the image of children as economic units: investments in the future. We show how a ‘moment of arising’ in contemporary policy contexts, dominated by neoliberal principles of reform and competition, has charged early childhood educators in Australia with the duties of a ‘broker’, ensuring that young children are worth the investment. In this article, we begin with (1) a key policy document in early childhood education in Australia and examine the discursive affordances which shape the document. Next, (2) we pinpoint the shifts in how the work of child care is perceived by interrogating this key policy document through a methodology of discursive analysis. We then turn attention (3) to the work of this policy document along with other discourses which directly affect images of children and the shaping role these have on the work of educators. We conclude with (4) a consideration of how the work of early childhood professionals has come to be shaped by this economic discourse, and how they are being required to both work within the policy imperatives and likely to resist this new demand of them.