Allyson Thomson

A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003

Purpose. To investigate the incidence, clinical presentation and associated comorbidities of Angelman syndrome (AS) in Western Australia, with establishment of an information database for the disorder. Methods. Data were collected from Disability Services Commission files, supplemented by datasets provided by the Western Australian Data Linkage Unit. The analysis was retrospective and quantitative. Results. Thirty-four individuals (two deceased) were identified (19 F, 15 M), with a mean age of 21.6 years; 52.9% had an IQ < 40, with the remainder of IQ 40–69. The incidence was one in 40,000 births and mean age at diagnosis was 5.8 years. The mean age of the 23 home residents was 20.2 years compared to 27.9 years in the nine individuals in sheltered accommodation. In general, the patients exhibited a typical AS clinical presentation. A median of 5.5 (range 0–20) hospital admissions was recorded per person, with epilepsy, gastrointestinal disorders, and dental work all common reasons for admission. Conclusions. The estimated incidence was low compared to other reports, as was the proportion of IQ < 40. AS cases required substantial levels of medical care, especially those who were epileptic. An increase in the future numbers of AS patients needing sheltered accommodation is predicted.

Beliefs and perceptions about the causes of breast cancer: a case-control study

BackgroundAttributions of causality are common for many diseases, including breast cancer. The risk of developing breast cancer can be reduced by modifications to lifestyle and behaviours to minimise exposure to specific risk factors, such as obesity. However, these modifications will only occur if women believe that certain behaviours/lifestyle factors have an impact on the development of breast cancer.MethodThe Breast Cancer, Environment and Employment Study is a case-control study of breast cancer conducted in Western Australia between 2009 and 2011. As part of the study 1109 women with breast cancer and 1633 women without the disease completed a Risk Perception Questionnaire in which they were asked in an open-ended question for specific cause/s to the development of breast cancer in themselves or in others. The study identified specific causal beliefs, and assessed differences in the beliefs between women with and without breast cancer.ResultsThe most common attributions in women without breast cancer were to familial or inherited factors (77.6%), followed by lifestyle factors, such as poor diet and smoking (47.1%), and environmental factors, such as food additives (45.4%). The most common attributions in women with breast cancer were to mental or emotional factors (46.3%), especially stress, followed by lifestyle factors (38.6%) and physiological factors (37.5%), particularly relating to hormonal history.ConclusionsWhile the majority of participants in this study provided one or more causal attributions for breast cancer, many of the reported risk factors do not correspond to those generally accepted by the scientific community. These misperceptions could be having a significant impact on the success of prevention and early detection programs that seek to minimise the pain and suffering caused by this disease. In particular, women who have no family history of the disease may not work to minimise their exposure to the modifiable risk factors.

Women's beliefs about breast cancer causation in a breast cancer case-control study

Our study sought to ascertain womens beliefs about breast cancer risk factors and whether these beliefs differed by demographic factors and personal and family history of breast cancer.

Occupational exposure to solvents and risk of breast cancer

Background Occupational exposure to some organic solvents may increase risk of breast cancer. Methods In a population-based case-control study, 1,205 women diagnosed with primary breast cancer between 2009 and 2011 were drawn from the Western Australian Cancer Registry and matched to 1,789 controls from the electoral roll. Exposure to solvents was determined through telephone interviews using OccIDEAS. Results About a third of women were occupationally exposed to solvents. Age adjusted breast cancer risks were elevated for women who had been exposed to aliphatic solvents odds ratio (OR) 1.21 (95%CI 0.99–1.48) and aromatic solvents OR 1.21 (95%CI 0.97–1.52). For most solvents the ORs were higher for those diagnosed before menopause. Conclusions This study suggests that there may be an association between occupational exposure to aliphatic and aromatic solvents and the risk of breast cancer at the low levels of exposure experienced by women in this study. Am. J. Ind. Med. 58:915–922, 2015.

Health status and use of medications by adults with intellectual disability in Western Australia

ABSTRACT Background Evidence suggests that adults with intellectual disability (ID) are vulnerable to poor health outcomes. This paper describes the health status and medication use of adults with ID in Western Australia. Method We conducted a cross-sectional survey by interview of 328 adults with ID (M age = 37 years, range: 18–82) and their families/support persons (79% proxy or joint informants). Results Although 90% of participants reported long-term health conditions (M = 2.6, range: 0–10), including epilepsy, allergies, eczema, asthma, and mental health problems, three quarters of the participants (77%) described their health as good or very good. Younger participants (18–44 years) reported osteoporosis and stroke, conditions commonly associated with ageing, more often than the general population at those ages. Medication use was high, with 70% taking one or more medications (Mdn = 3 medications, range: 0–21). Conclusions Many participants reported that health problems affected their daily lives, yet the majority reported good health. Long-term health conditions were common and many people used several types of medications. Participants had poorer health than the Western Australian population overall. Careful monitoring of health conditions and regular review of medications are recommended to improve health outcomes for adults with ID.

The transition between the phenotypes of Prader–Willi syndrome during infancy and early childhood

In the half-century since the description of Prader–Willi syndrome (PWS) there has been a considerable body of work devoted to delineation of the genetic mechanisms behind the development of PWS, and to improving our understanding of the physical manifestations, and behavioural and cognitive effects of the disorder. Generally, infants with PWS cannot suck properly and many are gavage-fed. They often fail to thrive, although Eiholzer et al. reported that even underweight infants with PWS have abnormally high body-fat measures. An interesting facet of PWS is hyperphagia which is almost universal after the age of 3 years. Earlier thought to be a manifestation of extreme hunger, hyperphagia in PWS is now considered to reflect a disruption of the normal satiety signal. In fact, some researchers have suggested that PWS is a starvation syndrome, whereby the body responds to the lack of satiety signal as if starving, with the result that the person continues to eat whenever food is available. Treatment with growth hormone has been shown to improve linear growth and to decrease fat-mass to muscle-mass ratios, but it appears to have little, if any, effect on the abnormal eating behaviours of people with PWS. There has been little research into the transition period between the early childhood phenotype of failure to thrive and the older, hyperphagic phenotype. A study by Butler et al. sheds light on this under-investigated stage of the disorder. Overall, they found considerable variation in the age at which children first exhibited an increased interest in food, and significantly fewer children displayed the full food obsession pattern of behaviour than would be expected from other reports. However, body mass index (BMI) standard deviation scores tended to increase around 30 months of age, before any notable increase in the characteristic eating behaviour as reported by many parents, thus supporting the suggestion that there are in fact three stages involved in the development of PWS: failure to thrive in infancy, increased BMI or obesity in early childhood, and hyperphagia leading to greater obesity in later childhood and adulthood. One limitation faced by Butler et al. was that just over one-third of participants had received growth hormone therapy for varying lengths of time, with insufficient numbers to attain statistical significance. A larger-scale longitudinal study could usefully explore the use of growth hormone in infancy and clarify the apparent delay in the transition between phenotypic stages resulting from the treatment. An important advance is the development of an Eating Code specifically for use with younger age groups. A Food-Related Problems Questionnaire already exists for older people with PWS, and there appear to be many similarities between the two instruments. However, the inclusion of questions relating to the need for and use of food control measures to determine the Eating Codes appears to be unique to this study and promises to be a

Examples of individual supported living for adults with intellectual disability.

Background: This article provides a qualitative account of four models of support for adults with intellectual disability in individual supported living (ISL) arrangements. Materials and Methods: Completion of the first 50 evaluations of 150 arrangements for the third phase of the ISL project provided the examples. Results: Four approaches are described: living alone, co-residency, relationship and host family. Within each type, wide variations occur particularly based on security of tenure, formal and informal support and management variations. Conclusion: Fifty evaluations so far illustrated a wide range of approaches to ISL, providing evidence of the critical importance of the formal and informal support environment and reinforcing the contention that ISL is appropriate for people with high support needs.

Navigating the maze: ethics approval pathways for intellectual disability research

All researchers, regardless of their discipline, need to be aware of the importance of protecting vulnerable populations, such as people with intellectual disabilities (ID), from exploitation within the context of research.1 ,2 For this reason, institutional Human Research Ethics Committees (HREC) are regarded as an essential gateway for review of the design and procedure of research projects involving people with ID. While these protections are welcome and necessary, it has been mooted that rigorous application of guidelines of ethical conduct may have a deleterious effect on ID research in Australia.3 One of the common themes identified by a recent review of the ethical aspects of ID research was the importance of participation, notwithstanding an often reduced capacity for autonomous decision making ‘…that neither the presence of a disability nor the absence of capacity should exclude an individual from participation and that the participation of adults with ID in all research should be pursued.’4 This paper reviews practical issues arising from a study involving people with ID in Western Australia, and highlights challenges encountered in seeking approval to survey family carers of a group of people with ID. The prescribed involvement of multiple agencies, which was complicated by legislative ambiguities regarding adults who lack the capacity to provide consent for non-medical research participation, resulted in a time span of over 2 years from submission of the initial application to a University HREC to receipt of the final approval for all parts of a project with an original 3-year schedule. The study itself aimed to assess stress levels and explore the use of coping strategies among the carers of people with Angelman syndrome (AS) or Prader–Willi syndrome (PWS). Both syndromes are genomic imprinting disorders that arise from disruptions within human chromosome 15q11-q13. Although the disease phenotypes of the disorders …

Occupational exposure to ionizing radiation and risk of breast cancer in Western Australia.

Objective: To evaluate current breast cancer risk due to occupational exposure to ionizing radiation. Methods: We analyzed data from the Western Australian population-based Breast Cancer Employment and Environment Study. The Breast Cancer Employment and Environment Study included 1205 cases with incident breast cancer during 2009–2011 and 1789 controls. Age-adjusted odds ratios (ORs) were estimated with logistic regression models. Results: There was a weak, not statistically significant association between breast cancer and occupational exposure to ionizing radiation (OR = 1.16; 95% confidence interval, 0.86 to 1.57). The risk of human epidermal growth factor receptor 2–positive breast cancer with occupational exposure to ionizing radiation in women who were premenopausal at the time of interview was higher (OR = 2.57; 95% confidence interval, 1.09 to 6.03). Conclusions: This study suggests that the risk of breast cancer is low at current levels of occupational exposure to ionizing radiation, although the risk of human epidermal growth factor receptor 2–positive cancer may be a concern.

Including questionnaires with the invitation package appeared to increase the response fraction among women

OBJECTIVE The Breast Cancer Environment and Employment Study (BCEES) is a case--control study that began in 2009. The study experienced a lower than expected response fraction, a trend that appears to be occurring internationally. A 32-page questionnaire was included in the initial invitation to participate, and previous research suggests that long questionnaires decrease response fractions. The aim of this study was to test whether removal of the questionnaire from the invitation package increased participation. STUDY DESIGN AND SETTING A randomized controlled trial was undertaken among the BCEES controls from June to August 2010. One group of 250 received the questionnaire in the initial invitation package, and the other group of 250 received only the invitation package and was sent the questionnaire after their consent was received. The proportion of responses for the two groups was compared using contingency tables and chi-square statistics. RESULTS Those who received the questionnaire with the invitation package were more likely to consent to participate than those who did not (40.8% and 33.2%, respectively). However, this difference was not statistically significant (P=0.078). CONCLUSION To improve response fractions and reduce time in following up nonresponses, questionnaires should be included in the invitation package.