Supporting siblings of children with a rare chromosome disorder

Siblings play an important role in children’s learning and development. Interactions with brothers and sisters provide opportunities to learn about sharing and emotional reciprocity, to develop social skills, to express thoughts and feelings, and to practise resolving conflict. But for children whose brother or sister has a disability, such as a rare chromosome disorder, some of these sibling experiences may be different. Many parents worry about how their non-disabled child will be affected by the experience of living with a brother or sister with a disability, and a great deal of research has explored both the possible negative consequences and also the potential benefits for siblings. In this article, we summarise the research findings and provide suggestions for ways that parents can support the positive development and well-being of all their children.

From slum to suburbia : examining a spectrum of planned and unplanned urban morphology in humid sub-tropical regions of the world

The current rapid urban growth throughout the world manifests in various ways and historically cities have grown, similarly, alternately or simultaneously between planned extensions and organic informal settlements (Mumford, 1989). Within cities different urban morphological regions can reveal different contexts of economic growth and/or periods of dramatic social/technological change (Whitehand, 2001, 105). Morpho-typological study of alternate contexts can present alternative models and contribute to the present discourse which questions traditional paradigms of urban planning and design (Todes et al, 2010). In this study a series of cities are examined as a preliminary exploration into the urban morphology of cities in ‘humid subtropical’ climates. From an initial set of twenty, six cities were selected: Sao Paulo, Brazil; Jacksonville, USA; Maputo, Mozambique; Kanpur, India; Hong Kong, China; and Brisbane, Australia. The urban form was analysed from satellite imagery at a constant scale. Urban morphological regions (types) were identified as those demonstrating particular consistant characteristics of form (density, typology and pattern) different to their surroundings when examined at a constant scale. This analysis was correlated against existing data and literature discussing the proliferation of two types of urban development, ‘informal settlement’ (defined here as self-organised communities identifiable but not always synonymous with ‘slums’) and ‘suburbia’ (defined here as master planned communities of generally detached houses prevalent in western society) - the extreme ends of a hypothetical spectrum from ‘planned’ to ‘spontaneous’ urban development. Preliminary results show some cities contain a wide variety of urban form ranging from the highly organic ‘self-organised’ type to the highly planned ‘master planned community’ (in the case of Sao Paulo) while others tend to fall at one end of the planning spectrum or the other (more planned in the cases of Brisbane and Jacksonville; and both highly planned and highly organic in the case of Maputo). Further research will examine the social, economical and political drivers and controls which lead to this diversity or homogeneity of urban form and speculates on the role of self-organisation as a process for the adaptation of urban form.

Spectrum sensing, detection and optimisation in cognitive radio for non-stationary primary user signals

Cognitive radio is an emerging technology proposing the concept of dynamic spec- trum access as a solution to the looming problem of spectrum scarcity caused by the growth in wireless communication systems. Under the proposed concept, non- licensed, secondary users (SU) can access spectrum owned by licensed, primary users (PU) so long as interference to PU are kept minimal. Spectrum sensing is a crucial task in cognitive radio whereby the SU senses the spectrum to detect the presence or absence of any PU signal. Conventional spectrum sensing assumes the PU signal as ‘stationary’ and remains in the same activity state during the sensing cycle, while an emerging trend models PU as ‘non-stationary’ and undergoes state changes. Existing studies have focused on non-stationary PU during the transmission period, however very little research considered the impact on spectrum sensing when the PU is non-stationary during the sensing period. The concept of PU duty cycle is developed as a tool to analyse the performance of spectrum sensing detectors when detecting non-stationary PU signals. New detectors are also proposed to optimise detection with respect to duty cycle ex- hibited by the PU. This research consists of two major investigations. The first stage investigates the impact of duty cycle on the performance of existing detec- tors and the extent of the problem in existing studies. The second stage develops new detection models and frameworks to ensure the integrity of spectrum sensing when detecting non-stationary PU signals. The first investigation demonstrates that conventional signal model formulated for stationary PU does not accurately reflect the behaviour of a non-stationary PU. Therefore the performance calculated and assumed to be achievable by the conventional detector does not reflect actual performance achieved. Through analysing the statistical properties of duty cycle, performance degradation is proved to be a problem that cannot be easily neglected in existing sensing studies when PU is modelled as non-stationary. The second investigation presents detectors that are aware of the duty cycle ex- hibited by a non-stationary PU. A two stage detection model is proposed to improve the detection performance and robustness to changes in duty cycle. This detector is most suitable for applications that require long sensing periods. A second detector, the duty cycle based energy detector is formulated by integrat- ing the distribution of duty cycle into the test statistic of the energy detector and suitable for short sensing periods. The decision threshold is optimised with respect to the traffic model of the PU, hence the proposed detector can calculate average detection performance that reflect realistic results. A detection framework for the application of spectrum sensing optimisation is proposed to provide clear guidance on the constraints on sensing and detection model. Following this framework will ensure the signal model accurately reflects practical behaviour while the detection model implemented is also suitable for the desired detection assumption. Based on this framework, a spectrum sensing optimisation algorithm is further developed to maximise the sensing efficiency for non-stationary PU. New optimisation constraints are derived to account for any PU state changes within the sensing cycle while implementing the proposed duty cycle based detector.

From ABCs to ADHD : the role of schooling the construction of behaviour disorder and the production of disorderly objects

Discussion of Attention-Deficit/Hyperactivity Disorder (ADHD) in the media, and thus much popular discourse, typically revolves around the possible causes of disruptive behaviour and the “behaviourally disordered” child. The usual suspects - too much television and video games, food additives, bad parenting, lack of discipline and single mothers – feature prominently as potential contributors to the spiralling rate of ADHD diagnosis in Western industrialised nations, especially the United States and Australia. Conspicuously absent from the field of investigation, however, is the scene of schooling and the influence that the discourses and practices of schooling might bring to bear upon the constitution of “disorderly behaviour” and subsequent recognition of particular children as a particular kind of “disorderly”. This paper reviews a sample of the literature surrounding ADHD, in order to question the function of this absence and, ultimately, make an argument for an interrogation of the school as a site for the production of disorderly objects.

Out of sight, out of mind/out of mind, out of site : Schooling and attention deficit hyperactivity disorder

Attention Deficit Hyperactivity Disorder is a diagnostic term now indelibly scored on the public psyche. In some quarters, a diagnosis of “ADHD” is regarded with derision. In others it is welcomed with relief. Despite intense multi-disciplinary research, the jury is still out with regards to the “truth” of ADHD. Not surprisingly, the rapid increase in diagnosis over the past fifteen years, coupled with an exponential rise in the prescription of restricted class psychopharmaceuticals has stirred virulent debate. Provoking the most interest, it seems, are questions regarding causality. Typically, these revolve around possible antecedents for “disorderly” behaviour – bad food, bad tv and bad parents. Very seldom is the institution of schooling ever in the line of sight. To investigate this gap, I draw on Foucault to question what might be happening in schools and how this may be contributing to the definition, recognition and classification of particular children as a particular kind of “disorderly”.

Spectrum sensing optimisation for dynamic primary user signal

We propose a multi-layer spectrum sensing optimisation algorithm to maximise sensing efficiency by computing the optimal sensing and transmission durations for a fast changing, dynamic primary user. Dynamic primary user traffic is modelled as a random process, where the primary user changes states during both the sensing period and transmission period to reflect a more realistic scenario. Furthermore, we formulate joint constraints to correctly reflect interference to the primary user and lost opportunity of the secondary user during the transmission period. Finally, we implement a novel duty cycle based detector that is optimised with respect to PU traffic to accurately detect primary user activity during the sensing period. Simulation results show that unlike currently used detection models, the proposed algorithm can jointly optimise the sensing and transmission durations to simultaneously satisfy the optimisation constraints for the considered primary user traffic.

Incongruence between self-reported and observed senior physical education teaching styles : an analysis using Mosston and Ashworth’s spectrum

Pedagogical styles, methods, models, practices or strategies are valued for what they claim they can achieve. In recent times curriculum documents and governments have called for a range of teaching approaches to meet the variety of learner differences and allow students to make more independent decision making in physical education (Hardy and Mawer, 1999). One well known system of categorizing teaching styles is the Mosston and Ashworth’s Spectrum of Teaching Styles (2002). In Queensland, prior to 2005, no research had been conducted on the teaching styles used by teachers of Physical Education. However, many teachers self-reported that they employed a variety of teaching styles depending on the aims and content of the material to be taught (Cothran, et al., 2005). This research, for the first time, collected teacher’s self-reported use of teaching styles and through observations verify the styles that were being used to teach Senior Physical Education in Queensland. More specifically the aims of the research were to determine: a) What teaching styles teachers of Senior Physical Education in Queensland believe they use? i) Were they using a range of teaching styles? ii) Were teachers of Senior Physical Education in Queensland using teaching styles that the Queensland Senior Physical Education Syllabus (2004) required? b) If Mosston and Ashworth’s (2002) Spectrum of Teaching Styles were used to categorise styles observed during the teaching of Senior Physical Education did the styles being used provide opportunities for evaluating as described by the Queensland Senior Physical Education Syllabus (2004)? The research was conducted in two phases. Part A involved use of a questionnaire to determine the teaching styles Queensland teachers of Senior Physical Education reported using and how often they reported using them. The questionnaire was administered to 110 teachers throughout Queensland. The sample was determined from 346 schools teaching Senior Physical Education (in 2006) across the state of Queensland, Australia. 286 questionnaires were sent to 77 non-randomised schools. There were 66 male and 44 female respondents in the sample. A wide range of teaching styles were reportedly used by teachers of Senior Physical Education with Practice Style-Style B, Command Style-Style A and Divergent Discovery Style-Style H, the most reportedly used. The Self-Teaching Style-Style K was reportedly used the least by teachers involved in this study. From the respondents a group of teachers were identified to form the participants for Part B. Part B of the study involved observation of a group of volunteer participants (from those who had completed the questionnaire) who displayed many of the ‘typical’ characteristics, and a cross-section of backgrounds, of teachers of Senior Physical Education in Queensland. In the case of this study, the criteria used to select the group of teachers to be observed teaching were, teaching experience (number of years: 0-4, 5-10 and 11 years and over), gender, geographical location of schools (focused on Brisbane and near area for travel/access purposes), profile of the students at schools (girls, boys or co-educational), nature of school (Government or Private) and the physical activities being taught in a school (activities to reflect all the areas of physical activity outlined within the syllabus). A total of 27 questionnaire respondents from Part A indicated that they were willing to be observed teaching practical lessons. The respondents who volunteered to be involved in Part B of the study came from different regions across the state of Queensland and was not confined to the Brisbane metropolitan area or large cities. From the group of people who volunteered for Part B four came from outside Brisbane and 23 from the Brisbane area. The final observation group of nine participants included eight teachers from the Brisbane area and one from a rural area. The characteristics of the final group included three females and six males from private and public schools with a range of teaching experience in years and a range of physical activities. Four year 12 and five year 11 teachers and their classes were videoed on three occasions as they progressed through an eight – nine week unit of work. This resulted in 24 hours 48 minutes and 20 seconds (or 4465 observations) of video teaching data which was subsequently coded by several researchers (99% interobserver reliability) to determine the teaching styles employed by the participants. This research indicated that, based on Mosston and Ashworth’s (2002) Spectrum of Teaching Styles, teachers of Senior Physical Education in Queensland used predominantly one style to teach 27 observed lessons. This is in sharp contrast to the variety of styles 110 teachers self- reportedly used and in spite of the Queensland Senior Physical Education Syllabus (2004) suggesting a range of specific styles be used. These results are discussed in the context of the Queensland Senior Physical Education Syllabus (2004), teacher knowledge of teaching styles and high-stakes curriculum and external pressures such as national testing and the publication of data from schools in tabloid newspapers. The data and findings in this research provide a rationale for improving teacher knowledge regarding teaching styles and the need for a clear definition of terminology in syllabus documents. Careful examination of the effects that the publishing of school data may have on teaching styles is advised. This research not only collected teacher’s perceptions of the teaching styles they believed they used it also verified these claims through direct observations of the teachers while teaching. These findings are relevant to syllabus writers, teacher educators, policy makers within education and teachers.

Countering the Attention Deficit Hyperactivity Disorder epidemic: a question of ethics?

Recently in Australia, another media skirmish has erupted over the problem we currently call “Attention Deficit Hyperactivity Disorder”. This particular event was precipitated by the comments of a respected District Court judge. His claim that doctors are creating a generation of violent juvenile offenders by prescribing Ritalin to young children created a great deal of excitement, attracting the attention of election-conscious politicians who appear blissfully unaware of the role played by educational policy in creating and maintaining the problem. Given the short (election-driven) attention span of government policymakers, I bypass government to question what those at the front line can do to circumvent the questionable practice of diagnosing and medicating young children for difficulties they experience in schools and with learning.

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene

Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO1E and NPHS2). This study involves a large, unique, multigenerational Australian pedigree in which FSGS co-segregates with progressive heart block with apparent X-linked recessive inheritance. Through a classical combined approach of linkage and haplotype analysis, we identified a 21.19 cM interval implicated on the X chromosome. We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval. The two mutations NXF5-R113W and ALG13-T141L segregated perfectly with the disease phenotype in the pedigree and were not found in a large healthy control cohort. Analysis using bioinformatics tools predicted the R113W mutation in the NXF5 gene to be deleterious and cellular studies support a role in the stability and localization of the protein suggesting a causative role of this mutation in these co-morbid disorders. Further studies are now required to determine the functional consequence of these novel mutations to development of FSGS and heart block in this pedigree and to determine whether these mutations have implications for more common forms of these diseases in the general population.

A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25

Many primary immunodeficiency disorders of differing etiologies have been well characterized, and much understanding of immunological processes has been gained by investigating the mechanisms of disease. Here, we have used a whole-genome approach, employing single-nucleotide polymorphism and gene expression microarrays, to provide insight into the molecular etiology of a novel immunodeficiency disorder. Using DNA copy number profiling, we define a hyperploid region on 14q11.2 in the immunodeficiency case associated with the interleukin (IL)-25 locus. This alteration was associated with significantly heightened expression of IL25 following T-cell activation. An associated dominant type 2 helper T cell bias in the immunodeficiency case provides a mechanistic explanation for recurrence of infections by pathogens met by Th1-driven responses. Furthermore, this highlights the capacity of IL25 to alter normal human immune responses.

Minor head trauma – induced sporadic hemiplegic migraine coma

Familial hemiplegic migraine is a severe, rare subtype of migraine. Gene mutations on chromosome 19 have been identified in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene (chromosome 19p13) for familial hemiplegic migraine. Recently a gene mutation (Serine-218-Leucine) for a dramatic syndrome associated with familial hemiplegic migraine, commonly named “migraine coma”, has implicated exon 5 of this gene. The occurrence of trivial head trauma, in such familial hemiplegic migraine patients, may also be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval. Sporadic hemiplegic migraine shares a similar spectrum of clinical presentation and genetic heterogeneity. The case report presented in this article implicates the involvement of the Serine-218-Leucine mutation in the extremely rare disorder of minor head trauma–induced migraine coma. We conclude that the Serine-218-Leucine mutation in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene is involved in sporadic hemiplegic migraine, delayed cerebral edema and coma after minor head trauma.

The 4C spectrum of fundamental behavioral relations for concurrent systems

The design of concurrent software systems, in particular process-aware information systems, involves behavioral modeling at various stages. Recently, approaches to behavioral analysis of such systems have been based on declarative abstractions defined as sets of behavioral relations. However, these relations are typically defined in an ad-hoc manner. In this paper, we address the lack of a systematic exploration of the fundamental relations that can be used to capture the behavior of concurrent systems, i.e., co-occurrence, conflict, causality, and concurrency. Besides the definition of the spectrum of behavioral relations, which we refer to as the 4C spectrum, we also show that our relations give rise to implication lattices. We further provide operationalizations of the proposed relations, starting by proposing techniques for computing relations in unlabeled systems, which are then lifted to become applicable in the context of labeled systems, i.e., systems in which state transitions have semantic annotations. Finally, we report on experimental results on efficiency of the proposed computations.