The developmental consequences of rare chromosome disorders : two case reports

Aim: As molecular and cytogenetic testing becomes increasingly sophisticated, more individuals are being diagnosed with rare chromosome disorders. Yet despite a burgeoning knowledge about biomedical aspects, little is known about implications for psychosocial development. The scant literature gives a general impression of deficits and adverse developmental outcomes. Method: Developmental data were obtained from two 16 year olds diagnosed with a rare chromosome disorder – a girl with 8p23.1 and a boy with 16q11.2q12.1. Measures of intellectual ability, academic achievement, and other aspects of functioning were administered at multiple time points from early childhood to adolescence. Results: Both adolescents experienced initial delays in motor and language development. Although the girl’s intelligence is assessed as being in the average range, she experiences difficulties with motor planning, spelling and writing. The boy has been diagnosed with a mild intellectual disability and demonstrates mild autistic features. Conclusions: The two case descriptions are in marked contrast to the published literature about these two chromosome anomalies. Both adolescents are developing much more positively than would be expected on the basis of the grim predictions of their paediatricians and the negative reports in the literature. It is concluded that, for most rare chromosome disorders, the range of possible developmental outcomes is currently unknown.

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.

The impact of chronic childhood illness on family stress : a comparison between autism and cystic fibrosis

Compared the different patterns of stress reported by mothers of children (aged 5–12 yrs) with either a chronic physical illness (cystic fibrosis) or a chronic psychological disorder (autism), and children without a physical or psychological disorder. 24 mothers from each of these 3 groups completed a short form of the Questionnaire on Resources and Stress. Each clinical group exhibited different patterns of stressful response consistent with the nature of the disorder and the requirements of care imposed on the families. Autism contributed significantly more to family stress than did cystic fibrosis. The number of children in the family was not a significant variable. Implications for the development of family intervention programs are discussed

Differentiating first episode substance induced and primary psychotic disorders with concurrent substance use in young people

Objective: Substance use is common in first-episode psychosis, and complicates the accurate diagnosis and treatment of the disorder. The differentiation of substance-induced psychotic disorders (SIPD) from primary psychotic disorders (PPD) is particularly challenging. This cross-sectional study compares the clinical, substance use and functional characteristics of substance using first episode psychosis patients diagnosed with a SIPD and PPD. Method: Participants were 61 young people (15-24 years) admitted to a psychiatric inpatient service with first episode psychosis, reporting substance use in the past month. Diagnosis was determined using the Psychiatric Research Interview for DSM-IV Substance and Mental disorders (PRISM-IV). Measures of clinical (severity of psychotic symptoms, level of insight, history of trauma), substance use (frequency/quantity, severity) and social and occupational functioning were also administered. Results: The PRISM-IV differentially diagnosed 56% of first episode patients with a SIPD and 44% with a PPD. Those with a SIPD had higher rates of substance use and disorders, higher levels of insight, were more likely to have a forensic and trauma history and had more severe hostility and anxious symptoms than those with a PPD. Logistic regression analysis indicated a family history of psychosis, trauma history and current cannabis dependence were the strongest predictors of a SIPD. Almost 80% of diagnostic predictions of a SIPD were accurate using this model. Conclusions: This clinical profile of SIPD could help to facilitate the accurate diagnosis and treatment of SIPD versus PPD in young people with first episode psychosis admitted to an inpatient psychiatric service.

A systematic review of psychological interventions for excessive alcohol consumption among people with psychotic disorders

Objective: Excessive alcohol consumption is common among people with psychotic disorders. While there is an extensive literature on the efficacy of psychological treatments for excessive drinking, few studies have examined interventions addressing this issue among people with psychotic disorders. Method: Systematic searches in PubMed and PsycINFO were conducted to identify randomized controlled trials comparing manual guided psychological interventions for excessive alcohol consumption among individuals with psychotic disorders. Of the 429 articles identified, 7 met inclusion criteria. Data were extracted from each study regarding study sample characteristics, design, results, clinical significance of alcohol consumption results, and methodological limitations. Results: Assessment interviews, brief motivational interventions and lengthier cognitive behavior therapy have been associated with reductions in alcohol consumption among people with psychosis. While brief interventions (i.e., 1-2 sessions) were generally as effective as longer duration psychological interventions (i.e., 10 session) for reducing alcohol consumption, longer interventions provided additional benefits for depression, functioning and other alcohol outcomes. Conclusion: Excessive alcohol consumption among people with psychotic disorders is responsive to psychological interventions. It is imperative that such approaches are integrated within standard care for people with psychosis.

Physical activity amongst older adults with musculoskeletal disorders : a descriptive study

"The World Health Organisation has identified physical inactivity as the fourth leading effective cause of death globally. The burden of physical inactivity will increase as the population ages. In addition to increased risk or mortality, prior research has indicated older adults with chronic musculoskeletal conditions are likely to face increased morbidity and poorer prognoses if they are physically inactive. There is currently a scarcity of empirical research describing the physical activity profile of older adults with chronic musculoskeletal disorders. The aim of this investigation was to describe the self-reported physical activity profile and body mass index (BMI) profile of a sample of older adults with chronic musculoskeletal disorders accessing outpatient hospital services."--publisher website

Reasons for substance use among people with mental disorders

Background: Comorbidity of mental disorders and substance use continues to be a major problem. To inform the development of more effective interventions for these co-existing disorders, this paper aimed to determine if there are clear variations in the reasons for tobacco, alcohol or cannabis use across people with different mental disorders. Methods: Data from five randomized controlled trials on co-existing disorders that measured reasons for tobacco, alcohol or cannabis use using the Drug Use Motives Questionnaire, Reasons for Smoking Questionnaire or via free response are reported and combined. Two studies involved participants with depression, two involved participants with a psychotic disorder and one involved participants with a range of mental disorders. A series of logistic regressions were conducted to examine differences in reasons for tobacco, alcohol or cannabis use and to compare these reasons between people with psychotic disorders or depression. Results: Participants had a mean age of 38 (SD=12) and just over half (60%) were male. Forty-six percent of participants had a psychotic disorder and 54% experienced depression. Data from 976 participants across the five studies were included in the analyses. Tobacco and alcohol were primarily used to cope, while cannabis was primarily used for pleasure. People with psychotic disorders were more likely than people with depression to use tobacco for coping, pleasure and illness motives. People with depression, in contrast, were more likely to use alcohol for these reasons and social reasons. Conclusions: It may be important to tailor interventions for co-existing mental disorders and substance use by substance type and type of mental disorder. For example, interventions might be improved by including alternative coping strategies to tobacco and/or alcohol use, by addressing the social role of alcohol and by helping people with mental disorders using cannabis to gain pleasure from their lives in other ways.

Treatment of cannabis use among people with psychotic disorders : critical review of randomised controlled trials

There is growing and converging evidence that cannabis may be a major risk factor in people with psychotic disorders and prodromal psychotic symptoms. The lack of available pharmacological treatments for cannabis use indicates that psychological interventions should be a high priority, especially among people with psychotic disorders. However, there have been few randomised controlled trials (RCTs) of psychological interventions among this group. In the present study we critically overview RCTs of psychological and pharmacologic interventions among people with psychotic disorders, giving particular attention to those studies which report cannabis use outcomes. We then review data regarding treatment preferences among this group. RCTs of interventions within "real world" mental health systems among adults with severe mental disorders suggest that cannabis use is amenable to treatment in real world settings among people with psychotic disorders. RCTs of manual guided interventions among cannabis users indicate that while brief interventions are associated with reductions in cannabis use, longer interventions may be more effective. Additionally, RCTs reviewed suggest treatment with antipsychotic medication is not associated with a worsening of cannabis cravings or use and may be beneficial. The development of cannabinoid agonist medication may be an effective strategy for cannabis dependence and suitable for people with psychotic disorders. The development of cannabis use interventions for people with psychotic disorders should also consider patients' treatment preferences. Initial results indicate face-to-face interventions focussed on cannabis use may be preferred. Further research investigating the treatment preferences of people with psychotic disorders using cannabis is needed.

Can a community pharmacy sleep assessment tool aid the identification of patients at risk of sleep disorders in the community : a pilot study

Background: When experiencing sleep problems for the first time, consumers may often approach community pharmacists for advice as they are easily accessible health care professionals in the community. In Australian community pharmacies there are no specific tools available for use by pharmacists to assist with the assessment and handling of consumers with sleep enquiries. Objective: To assess the feasibility of improving the detection of sleep disorders within the community through the pilot of a newly developed Community Pharmacy Sleep Assessment Tool (COP-SAT). Method: The COP-SAT was designed to incorporate elements from a number of existing, standardized, and validated clinical screening measures. The COP-SAT was trialed in four Australian community pharmacies over a 4-week period. Key findings: A total of 241 community pharmacy consumers were assessed using the COP-SAT. A total of 74 (30.7%) were assessed as being at risk of insomnia, 26 (10.7%) were at risk of daytime sleepiness, 19 (7.9%) were at risk of obstructive sleep apnea, and 121 (50.2%) were regular snorers. A total of 116 (48.1%) participants indicated that they consume caffeine before bedtime, of which 55 (47%) had associated symptoms of sleep onset insomnia. Moreover, 85 (35%) consumed alcohol before bedtime, of which 50 (58%) experienced fragmented sleep, 50 (58%) were regular snorers, and nine (10.6%) had apnea symptoms. The COP-SAT was feasible in the community pharmacy setting. The prevalence of sleep disorders in the sampled population was high, but generally consistent with previous studies on the general population. Conclusion: A large proportion of participants reported sleep disorder symptoms, and a link was found between the consumption of alcohol and caffeine substances at bedtime and associated symptoms. While larger studies are needed to assess the clinical properties of the tool, the results of this feasibility study have demonstrated that the COP-SAT may be a practical tool for the identification of patients at risk of developing sleep disorders in the community.

Male reproductive health disorders among Aboriginal and Torres Strait Islander men : a hidden problem?

OBJECTIVE: To better understand help-seeking behaviours and reproductive health disorders among Aboriginal and Torres Strait Islander men. DESIGN, SETTING AND PARTICIPANTS: A cross-sectional mixed-methods study conducted from 1 May 2004 to 30 April 2005 of 293 Aboriginal and Torres Strait Islander men aged 18 years and over from urban, rural and remote communities in the Northern Territory and Queensland. MAIN OUTCOME MEASURES: Subscale of the International Index of Erectile Function, self-reported help-seeking behaviours for erectile dysfunction (ED) and prostate disease, thematic analysis of semi-structured interviews and focus groups. RESULTS: The prevalence of moderate-to-severe ED increased across age groups, from about 10% in younger men (under 35 years) to 28% in men aged 55-74 years. Moderate-to-severe ED was strongly associated with reporting a chronic condition (odds ratio [OR], 3.67) and residing in a remote area (OR, 2.94). Aboriginal and Torres Strait Islander men aged 40-59 years showed similar low levels of help-seeking behaviours compared with non-Indigenous men from a comparable population-based study. About half of the men with ED saw a doctor or received treatment for ED in each population. While prostate cancer rates were low in both studies, testing for prostate problems was less frequent in Aboriginal and Torres Strait Islander men (11.4%) than in non-Indigenous men (34.1%, P < 0.001), despite similar levels of concern about prostate cancer. Barriers to help-seeking included shame, culturally inappropriate services and lack of awareness. CONCLUSION: This study, the first to investigate reproductive health of Aboriginal and Torres Strait Islander men, found low levels of help-seeking behaviours for reproductive health disorders, with implications for missing a predictor of chronic disease and late diagnosis of prostate disease.

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.