Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.

Angelman Syndrome (AS) is a rare genetic disorder that impacts 1:20,000 people. Challenging behaviour, such as severe injurious behaviour, aggression and frequent unprovoked episodes of laughter are a significant problem among adults with AS that adversely impacts an individual's quality of life. This study, for the first time, aims understand the characteristic of challenging behaviour, its frequency, and the factors associated with it in adults with AS. Data from participants with AS (N = 37; aged 18-46 years) registered with the Global Angelman Registry, were divided into challenging behaviour and non-challenging behaviour groups based on the presence or absence of 50% of the behaviours recorded in the registry. Descriptive statistics, chi-squared and t-test analysis were conducted to assess the impact of variables on challenging behaviour. Multiple regressions were conducted to investigate the predictors of challenging behaviour. 56% of the sample presented with challenging behaviour. Disorders of arousal, self-injury, behaviour dysregulation, repetitive behaviour, and the lack of physical therapy accounted for 59% of the variance of challenging behaviour in this population. It was found that challenging behaviour was very common in this population. A significant association was found between challenging behaviour and both sleep arousal and the lack of physical therapy. Sleep arousal and the lack of physical therapy were the key factors associated with challenging behaviour in this study. Targeted interventions are needed to decrease challenging behaviour and future research should focus on sleep interventions and increased opportunities for physical therapy.

Factors associated with sleep disturbances in children and adolescents with Angelman Syndrome.

BACKGROUND: Angelman Syndrome (AS) is a rare genetic disorder characterised by hyperactivity, overexcitability, developmental delays, and lack of speech. METHODS: This study used secondary data analysis to investigate sleep disturbances in children and adolescents (n = 212) who are enrolled in the Global Angelman Syndrome Registry. Participants were divided into two groups based on the presence or absence of sleep disturbance. The cut-off score of 40 on the Sleep Disturbance Scale for Children was used to indicate the presence or absence of sleep disturbances. Sleep disturbances and their association with co-occurring conditions were examined regarding challenging behaviour, language and communication, infancy history, gastrointestinal symptoms, and epilepsy. Multiple regression was then conducted to investigate possible predictors for sleep disturbances. RESULTS: Children and adolescents with AS, with and without sleep disturbances, differed considerably regarding anxiety. Sleep disturbances were significantly associated with an ability to use spoken words and computerised communication devices, and anxiety was a predictor of sleep disturbances. CONCLUSION: Future research is necessary to replicate this novel research, and to advance the clinical treatment of sleep disturbances in children and adolescents with AS.

Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.

Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible, and engaging manner that enables researchers to undertake critical research aimed at improving outcomes. Typically, English is the default language of choice for these global digital health platforms. Unfortunately, language barriers can significantly inhibit participation from non-English speaking participants. In addition, there is potential for compromises in data quality and completeness. In contrast, multinational commercial entities provide access to their websites in the local language of the country they are operating in, and often provide multiple options reflecting ethnic diversity. This paper presents a case study of how the Global Angelman Syndrome Registry (GASR) has used a novel approach to enable multiple language translations for its website. Using a "semi-automated language translation" approach, the GASR, which was originally launched in English in September 2016, is now available in several other languages. In 2020, the GASR adopted a novel approach using crowd-sourcing and machine translation tools leading to the availability of the GASR in Spanish, Traditional Chinese, Italian, and Hindi. As a result, enrolments increased by 124% percent for Spain, 67% percent for Latin America, 46% percent for Asia, 24% for Italy, and 43% for India. We describe our approach here, which we believe presents an opportunity for cost-effective and timely translations responsive to changes to the registry and helps build and maintain engagement with global disease communities.

Promoting a Collective Voice from Parents, Educators and Allied Health Professionals on the Educational Needs of Students on the Autism Spectrum.

Providing support for the educational needs of students on the autism spectrum continues to be challenging. Findings from this survey of parents, teachers and specialist staff highlight the need for collaboration between stakeholders who support the education of these students. The main themes to emerge were for school staff to be equipped with the knowledge and expertise to support each student in their learning, and for support with social/emotional needs. Findings highlighted the need for a transparent process for building school capacity to translate research and knowledge into practice by all stakeholders. This collective voice is important to ensure the needs of these students are identified and that appropriate support is implemented to maximise the educational success of these students.

Development of a multilevel health and safety climate survey tool within a mining setting.

INTRODUCTION: This study aimed to design, implement and evaluate the reliability and validity of a multifactorial and multilevel health and safety climate survey (HSCS) tool with utility in the Australian mining setting. METHODS: An 84-item questionnaire was developed and pilot tested on a sample of 302 Australian miners across two open cut sites. RESULTS: A 67-item, 10 factor solution was obtained via exploratory factor analysis (EFA) representing prioritization and attitudes to health and safety across multiple domains and organizational levels. Each factor demonstrated a high level of internal reliability, and a series of ANOVAs determined a high level of consistency in responses across the workforce, and generally irrespective of age, experience or job category. Participants tended to hold favorable views of occupational health and safety (OH&S) climate at the management, supervisor, workgroup and individual level. CONCLUSION: The survey tool demonstrated reliability and validity for use within an open cut Australian mining setting and supports a multilevel, industry specific approach to OH&S climate. Findings suggested a need for mining companies to maintain high OH&S standards to minimize risks to employee health and safety. Future research is required to determine the ability of this measure to predict OH&S outcomes and its utility within other mine settings. PRACTICAL APPLICATIONS: As this tool integrates health and safety, it may have benefits for assessment, monitoring and evaluation in the industry, and improving the understanding of how health and safety climate interact at multiple levels to influence OH&S outcomes.

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.

The influence of demographics and work related goals on adaptive development for work related learning amongst private hospital employees.

Contemporary lifespan development models of adaptive development have been applied to the workforce to examine characteristics of the ageing employee. Few studies have examined adaptive development in terms of worker perceptions of workplace, or their learning and development issues. This study used the recently developed Revised Learning and Development Survey to investigate employee selection and engagement of learning and development goals, opportunities for learning and development at work, and constraints to learning and development at work. Demographic and career goal variables were tested amongst a sample of private hospital employees, almost all of whom were nurses. Workers under 45 years of age perceived greater opportunities for training and development than more mature aged workers. Age and physical demands interacted such that physical demands of work were associated with lower engagement in learning and development goals in mature aged workers. The opposite was observed amongst younger workers. Engagement in learning and development goals at work predicted goals associated with an intention to decrease work hours or change jobs to a different industry when opportunities to learn via work tasks were limited. At the same time limited opportunities for training and development and perceptions of constraints to development at work predicted the intention to change jobs. Results indicate consideration must be paid to employee perceptions in the workplace in relation to goals. They may be important factors in designing strategies to retain workers.

The impact of patient self assessment of deformity on HRQL in adults with scoliosis.

BACKGROUND: Body image and HRQL are significant issues for patients with scoliosis due to cosmetic deformity, physical and psychological symptoms, and treatment factors. A selective review of scoliosis literature revealed that self report measures of body image and HRQL share unreliable correlations with radiographic measures and clinician recommendations for surgery. However, current body image and HRQL measures do not indicate which aspects of scoliosis deformity are the most distressing for patients. The WRVAS is an instrument designed to evaluate patient self assessment of deformity, and may show some promise in identifying aspects of deformity most troubling to patients. Previous research on adolescents with scoliosis supports the use of the WRVAS as a clinical tool, as the instrument shares strong correlations with radiographic measures and quality of life instruments. There has been limited use of this instrument on adult populations. METHODS: The WRVAS and the SF-36v2, a HRQL measure, were administered to 71 adults with scoliosis, along with a form to report age and gender. Preliminary validation analyses were performed on the WRVAS (floor and ceiling effects, internal consistency and collinearity, correlations with the SF-36v2, and multiple regression with the WRVAS total score as the predictor, and SF-36v2 scores as outcomes). RESULTS: The psychometric properties of the WRVAS were acceptable. Older participants perceived their deformities as more severe than younger participants. More severe deformities were associated with lower scores on the Physical Component Summary Score of the SF-36v2. Total WRVAS score also predicted Physical Component Summary scores. CONCLUSION: The results of the current study indicate that the WRVAS is a reliable tool to use with adult patients, and that patient self assessment of deformity shared a relationship with physical rather than psychological aspects of HRQL. The current and previous studies concur that revision of the WRVAS is necessary to more accurately represent the diversity of scoliosis deformities. Ability to identify disturbing aspects of deformity could potentially be improved by evaluating each WRVAS items against indicators of pain, physical/psychosocial function, and self image from previous measures such as the SRS, SF-36 or BSSQ-deformity.

A review of quality of life and psychosocial issues in scoliosis.

STUDY DESIGN: Recent literature regarding the psychological impact of scoliosis was reviewed. OBJECTIVE: To determine the impact of scoliosis on health-related quality of life (HRQL), psychosocial functioning, and body image to improve patient outcomes. SUMMARY OF BACKGROUND DATA: Adolescents and adults with adolescent idiopathic scoliosis have been known to score lower than healthy controls on HRQL measures. However, HRQL instruments may not adequately capture psychological distress experienced by patients. METHODS: Research papers concerning HRQL and psychosocial factors in patients with scoliosis were reviewed. RESULTS: Studies of psychosocial health and body image have revealed that functioning in these domains may affect compliance behavior and satisfaction with treatment outcomes among adolescent patients. Psychosocial and body image disturbance is less marked in patients with good social or family functioning, or patients who exercise regularly or are psychologically healthy. Adults with scoliosis generally display fewer psychological problems than adolescents. However, adults with scoliosis may experience psychosocial limitations due to poor physical health or body image disturbance. Support group membership can improve psychosocial health in adults with scoliosis. CONCLUSIONS: Adolescent patients with scoliosis may experience psychosocial difficulties, especially while undergoing treatment for scoliosis. Interventions aimed at managing psychosocial or body image disturbances may help to ameliorate the potentially negative impact of scoliosis on these facets of life.