Neuropsychological development in children with early and continuously treated phenylketonuria : association with biochemical markers

PKU is a genetically inherited inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. The failure of this enzyme causes incomplete metabolism of protein ingested in the diet, specifically the conversion of one amino acid, phenylalanine, to tyrosine, which is a precursor to the neurotransmitter dopamine. Rising levels of phenylalanine is toxic to the developing brain, disrupting the formation of white matter tracts. The impact of tyrosine deficiency is not as well understood, but is hypothesized to lead to a low dopamine environment for the developing brain. Detection in the newborn period and continuous treatment (a low protein phe-restricted diet supplemented with phenylalanine-free protein formulas) has resulted in children with early and continuously treated PKU now developing normal I.Q. However, deficits in executive function (EF) are common, leading to a rate of Attention Deficit Hyperactivity Disorder (ADHD) up to five times the norm. EF worsens with exposure to higher phenylalanine levels, however recent research has demonstrated that a high phenylalanine to tyrosine ratio (phenylalanine:tyrosine ratio), which is hypothesised to lead to poorer dopamine function, has a more negative impact on EF than phenylalanine levels alone. Research and treatment of PKU is currently phenylalanine-focused, with little investigation of the impact of tyrosine on neuropsychological development. There is no current consensus as to the veracity of tyrosine monitoring or treatment in this population. Further, the research agenda in this population has demonstrated a primary focus on EF impairment alone, even though there may be additional neuropsychological skills compromised (e.g., mood, visuospatial deficits). The aim of this PhD research was to identify residual neuropsychological deficits in a cohort of children with early and continuously treated phenylketonuria, at two time points in development (early childhood and early adolescence), separated by eight years. In addition, this research sought to determine which biochemical markers were associated with neuropsychological impairments. A clinical practice survey was also undertaken to ascertain the current level of monitoring/treatment of tyrosine in this population. Thirteen children with early and continuously treated PKU were tested at mean age 5.9 years and again at mean age 13.95 years on several neuropsychological measures. Four children with hyperphenylalaninemia (a milder version of PKU) were also tested at both time points and provide a comparison group in analyses. Associations between neuropsychological function and biochemical markers were analysed. A between groups analysis in adolescence was also conducted (children with PKU compared to their siblings) on parent report measures of EF and mood. Minor EF impairments were evident in the PKU group by age 6 years and these persisted into adolescence. Life-long exposure to high phenylalanine:tyrosine ratio and/or low tyrosine independent of phenylalanine were significantly associated with EF impairments at both time points. Over half the children with PKU showed severe impairment on a visuospatial task, and this was associated only with concurrent levels of tyrosine in adolescence. Children with PKU also showed a statistically significant decline in a language comprehension task from 6 years to adolescence (going from normal to subnormal), this deficit was associated with lifetime levels of phenylalanine. In comparison, the four children with hyperphenylalaninemia demonstrated normal function at both time points, across all measures. No statistically significant differences were detected between children with PKU and their siblings on the parent report of EF and mood. However, depressive symptoms were significantly correlated with: EF; long term high phe:tyr exposure; and low tyrosine levels independent of phenylalanine. The practice survey of metabolic clinics from 12 countries indicated a high level of variability in terms of monitoring/treatment of tyrosine in this population. Whilst over 80% of clinics surveyed routinely monitored tyrosine levels in their child patients, 25% reported treatment strategies to increase tyrosine (and thereby lower the phenylalanine:tyrosine ratio) under a variety of patient presentation conditions. Overall, these studies have shown that EF impairments associated with PKU provide support for the dopamine-deficiency model. A language comprehension task showed a different trajectory, serving a timely reminder that non-EF functions also remain vulnerable in this population; and that normal function in childhood does not guarantee normal function by adolescence. Mood impairments were associated with EF impairments as well as long term measures of phenylalanine:tyrosine and/or tyrosine. The implications of this research for enhanced clinical guidelines are discussed given varied current practice.

Early and middle years of schooling

What to look for in the chapter • how inclusion for the early and middle years offers a set of unique challenges; • how school communities can promote inclusion for children and young adolescents; • strategies that teachers can use to build and maintain community in early and middle years’ settings; • factors that influence the success of teachers working with children and young adolescents in inclusive schools; • practical measures that teachers can take, in light of these factors, to promote the success of inclusion; and • the different responses that children in the early and middle years have to inclusion, how teachers can identify those responses, and what they can do to ensure that they are positive.

How design of the physical environment impacts early learning : educators and parents perspectives

This research explores the quality and importance of the physical environment of two early learning centres on the Sunshine Coast in Queensland, utilising qualitative interviews with parents (n=4) and educators (n=4) to understand how design might impact on children’s development and a quantitative rating (the Early Childhood Physical Environment Rating Scale; ECPERS) to assess the quality of the physical built environment and infrastructure. With an average ECPERS quality rating, thematic analysis of the interviews revealed that educators and parents viewed the physical environment as important to a child’s development, although the quality of staff was predominant. Early learning centres should be ‘homely’, inviting, bright and linked to the outdoors, with participants describing how space “welcomes the child, makes them feel safe and encourages learning”. Four key themes characterised views: Emotional Connection (quality of staff and physical environment), Experiencing Design (impact of design on child development), Hub for Community Integration (relationships and resources) and Future Vision (ideal physical environment, technology and ratings). With participants often struggling to clearly articulate their thoughts on design issues, a collaborative and jargon-free approach to designing space is required. These findings will help facilitate discussion about the role and design of the physical environment in early childhood centres, with the tangible examples of ‘ideal space’ enhancing communication between architects and educators about how best to design and reconfigure space to enhance learning outcomes.

Temporal tracking of mineralization and transcriptional developments of shell formation during the early life history of pearl oyster Pinctada maxima

Molluscan larval ontogeny is a highly conserved process comprising three principal developmental stages. A characteristic unique to each of these stages is shell design, termed prodissoconch I, prodissoconch II and dissoconch. These shells vary in morphology, mineralogy and microstructure. The discrete temporal transitions in shell biomineralization between these larval stages are utilized in this study to investigate transcriptional involvement in several distinct biomineralization events. Scanning electron microscopy and X-ray diffraction analysis of P. maxima larvae and juveniles collected throughout post-embryonic ontogenesis, document the mineralogy and microstructure of each shelled stage as well as establishing a timeline for transitions in biomineralization. P. maxima larval samples most representative of these biomineralization distinctions and transitions were analyzed for differential gene expression on the microarray platform PmaxArray 1.0. A number of transcripts are reported as differentially expressed in correlation to the mineralization events of P. maxima larval ontogeny. Some of those isolated are known shell matrix genes while others are novel; these are discussed in relation to potential shell formation roles. This interdisciplinary investigation has linked the shell developments of P. maxima larval ontogeny with corresponding gene expression profiles, furthering the elucidation of shell biomineralization.

Closing the loop of design and analysis : Parametric modelling tools for early decision support

There is a growing need for parametric design software that communicates building performance feedback in early architectural exploration to support decision-making. This paper examines how the circuit of design and analysis process can be closed to provide active and concurrent feedback between architecture and services engineering domains. It presents the structure for an openly customisable design system that couples parametric modelling and energy analysis software to allow designers to assess the performance of early design iterations quickly. Finally, it discusses how user interactions with the system foster information exchanges that facilitate the sharing of design intelligence across disciplines.

An evaluation of the pattern and structure mathematics awareness program in the early school years

This paper reports a 2-year longitudinal study on the effectiveness of the Pattern and Structure Mathematical Awareness Program (PASMAP) on students’ mathematical development. The study involved 316 Kindergarten students in 17 classes from four schools in Sydney and Brisbane. The development of the PASA assessment interview and scale are presented. The intervention program provided explicit instruction in mathematical pattern and structure that enhanced the development of students’ spatial structuring, multiplicative reasoning, and emergent generalisations. This paper presents the initial findings of the impact of the PASMAP and illustrates students’ structural development.

Developing the Pattern and Structure Assessment (PASA) interview to inform early mathematics learning

The Pattern and Structure Mathematical Awareness Program(PASMAP) stems from a 2-year longitudinal study on students’ early mathematical development. The paper outlines the interview assessment the Pattern and Structure Assessment(PASA) designed to describe students’ awareness of mathematical pattern and structure across a range of concepts. An overview of students’ performance across items and descriptions of their structural development are described.

The professional conversation : a new approach to professional learning in early childhood education and care

In 2009, Australia celebrated the introduction of a national Early Years Learning Framework. This is a critical component in a series of educational reforms designed to support quality pedagogy and practice in early childhood education and care (ECEC) and successful transition to school. As with any policy change, success in real terms relies upon building shared understanding and the capacity of educators to apply new knowledge and support change and improved practice within their service. With these outcomes in mind, a collaborative research project is investigating the efficacy of a new approach to professional learning in ECEC: The professional conversation. This paper provides an overview of the professional conversation approach, including underpinning principles and the design and use of reflective questions to support meaningful conversation and learning.

The dynamics of parenting and early feeding - constructs and controversies : a viewpoint

There is increasing evidence that parenting and feeding interact to influence children’s eating behaviour and weight status. Interpretation of existing research is complicated by the lack of consensus in the conceptualisation and measurement of both ‘parenting’ and ‘feeding’, particularly the distinction between ‘styles’, ‘dimensions’ and ‘practices’. In addition, the lack of validated tools to concurrently assess feeding practices in infancy limits the capacity to examine the relationships between parenting and feeding in infancy and their short- and long-term influence on weight status. In this paper we provide an overview of the constructs examined in this emerging area of research, highlight the conceptual, definitional and measurement challenges and propose a unifying model to aid design and the interpretation of intervention studies. Progress on these methodological issues will contribute to the robust evidence required to justify investment in interventions that focus on parenting and feeding in the context of child obesity prevention.

Symbolic number : the integration of magnitude and spatial representations in children aged 6 to 8 years

The process of learning symbolic Arabic digits in early childhood requires that magnitude and spatial information integrates with the concept of symbolic digits. Previous research has separately investigated the development of automatic access to magnitude and spatial information from symbolic digits. However, developmental trajectories of symbolic number knowledge cannot be fully understood when considering components in isolation. In view of this, we have synthesized the existing lines of research and tested the use of both magnitude and spatial information with the same sample of British children in Years 1, 2 and 3 (6-8 years of age). The physical judgment task of the numerical Stroop paradigm (NSP) demonstrated that automatic access to magnitude was present from Year 1 and the distance effect signaled that a refined processing of numerical information had developed. Additionally, a parity judgment task showed that the onset of the Spatial-Numerical Association of Response Codes (SNARC) effect occurs in Year 2. These findings uncover the developmental timeline of how magnitude and spatial representations integrate with symbolic number knowledge during early learning of Arabic digits and resolve inconsistencies between previous developmental and experimental research lines.

Keeping friends safe : a prospective study examining early adolescent's confidence and support networks

There is a continued need to consider ways to prevent early adolescent engagement in a variety of harmful risk-taking behaviours for example, violence, road-related risks and alcohol use. The current prospective study examined adolescents’ reports of intervening to try and stop friends’ engagement in such behaviours among 207 early adolescents (mean age = 13.51 years, 50.1% females). Findings showed that intervening behaviour after three months was predicted by the confidence to intervene which in turn was predicted by student and teacher support although not parental support. The findings suggest that the benefits of positive relationship experiences might extend to the safety of early adolescent friendship groups particularly through the development of confidence to try and stop friends’ risky and dangerous behaviours. Findings from the study support the important role of the school in creating a culture of positive adolescent behaviour whereby young people take social responsibility.

Space, place and early childhood literacy

This chapter examines the changing landscape of literacy in the early years and considers how the diverse spaces and places in which early literacy learning is promoted and takes place can be conceptualised and researched. We argue that early literacy research needs to extend beyond a language focus to become attentive to the embodied, material dimensions of learning environments. The discussion is organised in terms of three kinds of spaces within which children encounter opportunities to participate in communication and representational practices. These are domestic spaces, commercial spaces and spaces of formal education. Theories of spatiality and material semiotics provide the conceptual tools for interpreting research studies located in these spaces. Implications for educators are considered.

Early childhood education

Young children are the most vulnerable and most at risk of environmental challenges, current and future. Yet, early learning around environment and sustainability issues and topics has been neglected and underrated in early childhood education even though there is an expanding body of research literature – from economics, neuroscience, sociology and health – that shows that early investments in human capital offer substantial returns for individuals and for communities and have a long reach into the future. Early childhood education for sustainability (ECEfS) - a synthesis of early childhood education (ECE) and education for sustainability (EfS) - builds on groundings in play, outdoor learning and nature education, but takes a stronger focus on learning about, and engagement with, environmental and sustainability issues. Child participation and agency is central to ECEfS and can relate, for example, to local environmental problem-solving such as water and energy conservation or waste reduction in a childcare centre, kindergarten or preschool, or young children’s social learning for Indigenous Reconciliation and cultural inclusivity. While the ECE field has been much slower than other educational sectors in taking up the challenges of sustainability, this situation is rapidly changing as early childhood practitioners begin to engage – it is fast moving from the margins of early childhood curriculum and pedagogic decision-making into the mainstream. This presents challenges, however, as ECEfS is somewhat misunderstood and misrepresented and, as a new field, is under-researched and under-theorised.