Diagnosis incidence of autism spectrum disorders is underestimated in Australian children, and there are inequalities in access to diagnosis and treatment services: a data linkage study of health service usage

Introduction The prevalence and diagnosis incidence of autism spectrum disorders (ASD) are difficult to determine. Estimates of ASD burden in Australia are produced from sample surveys of disability, and government records of welfare disability payments. While disability does affect many people with ASD, ASD itself is not a disability. Objectives and Approach For our retrospective population-based cohort study of breast cancer survivors diagnosed from 2007 to 2010 in British Columbia (BC), 2007-2011 in Manitoba (MB), 2007-2010 in Ontario (ON), and 2007-2012 in Nova Scotia (NS), we linked provincial cancer registries, clinical and health administrative databases, and followed cases alive at 30 months post-diagnosis to five years from diagnosis.  For each province, we calculated percent adherence, overuse, and underuse of recommended follow-up care, including surveillance for recurrent and new cancer, surveillance for late effects, and general preventive care.  We also examined variation among provinces and over time. Results Survivor numbers were 23,700 (ON), 9493 (BC), 2688 (MB), and 2735 (NS). Annual oncologist visit guideline compliance varied provincially (e.g. Year 2 ON=32.7%, BC=15.0%). For most provinces and follow-up years, the majority of survivors had fewer oncologist visits than recommended.  However, survivors had additional annual breast cancer-related visits to a primary care provider.  Surveillance breast imaging guideline compliance was high (e.g. Year 2, ON=81.1%, MB=72.0%, NS=52.8%, BC =49.7%), with rates declining in ON and MB (to approximately 64%), but increasing in NS and BC (to approximately 58%) by Year 5. Overuse of breast imaging was identified in NS (9.1%-20.7% overuse in follow-up years 2-5).  As per the guideline, 72.9%-79.7% (Years 2-5) of BC survivors had no imaging for metastastic disease, highest among all provinces. Conclusion/Implications The diagnosis incidence of ASD in Australian children is higher than previously estimated. The prevalence of ASD is therefore also underestimated. Multidisciplinary ASD assessment and treatment services are underutilised, likely due to out-of-pocket co-payments reducing affordability. These findings have significant implications for government health service planning for ASD

Maternal Ethanol Consumption Alters the Epigenotype and the Phenotype of Offspring in a Mouse Model

Peer reviewe

Co-design of a neurodevelopment assessment scale : a study protocol

Neurodevelopmental disorders are a heterogeneous group of conditions with overlapping symptomatology and fluctuating developmental trajectories that transcend current diagnostic categorisation. There is a need for validated screening instruments which dimensionally assess symptomatology from a holistic, transdiagnostic perspective. The primary aim is to co-design a Neurodevelopment Assessment Scale (NAS), a user-friendly transdiagnostic assessment inventory that systematically screens for all signs and symptoms commonly encountered in neurodevelopmental disorders. Our first objective is to undertake development of this tool, utilising co-design principles in partnership with stakeholders, including both those with lived experience of neurodevelopmental disorders and service providers. Our second objective is to evaluate the face validity, as well as the perceived utility, user-friendliness, suitability, and acceptability (i.e., ‘social validity’), of the NAS from the perspective of parents/caregivers and adults with neurodevelopmental disorders, clinicians, and service providers. Our third objective is to ascertain the psychometric properties of the NAS, including content validity and convergent validity. The NAS will provide an efficient transdiagnostic tool for evaluating all relevant signs, symptoms, and the dimensional constructs that underpin neurodevelopmental presentations. It is anticipated that this will maximise outcomes by enabling the delivery of personalised care tailored to an individual’s unique profile in a holistic and efficient manner

Access to antiretroviral therapy and survival in eastern Europe and central Asia: a case study in Armenia

INTRODUCTION: Antiretroviral therapy (ART) substantially improves the health of people living with HIV and contributes to preventing new infections. While HIV incidence is decreasing in most regions, the epidemic in eastern Europe continues to rise, as new infections currently outnumber the rate of ART initiation. In this study, we assess ART use in Armenia and its impact on the number of AIDS diagnoses and mortality. METHODS: National surveillance data were obtained from the National Centre for AIDS Prevention, Armenia. Cox-proportional hazard models were used to determine the effect of demographic and clinical risk factors, including access to ART, on AIDS and mortality. RESULTS: Among people diagnosed with HIV since 2005, approximately 40% per year were diagnosed with CD4<200 cells per mL. Overall, 232 people (57.1%) with AIDS or a low CD4 count had not received ART by the end of 2010. Mortality was 34.1% among people living with HIV who did not initiate ART, and 0.3% among people who received ART. Among people diagnosed with HIV from 1996 to 2010, age at diagnosis, no use of ART, likely mode of transmission, likely place of transmission, low baseline CD4 count and no STI diagnosis at last contact are significantly associated with death. DISCUSSION: In Armenia, HIV is frequently diagnosed at a late stage of disease, indicating low testing rates. Of people diagnosed with HIV and in need of ART, a large proportion (approximately 60%) either do not provide consent for treatment, or are who migrants who cannot be located. CONCLUSIONS: Globally, the scale-up of ART has resulted in substantial reductions in mortality among individuals initiating therapy. However, in an era of momentum for treatment as prevention, treatment levels are not at adequate levels for preventing morbidities and mortality in some settings. Particular focus should be placed on key at-risk subgroups.Kylie‐Ann Mallitt, Samvel R Grigoryan, Arshak S Papoyan, Handan C Wand, David P Wilso

Gene expression profiling of mucinous ovarian tumors and comparison with upper and lower gastrointestinal tumors identifies markers associated with adverse outcomes.

PURPOSE: Advanced-stage mucinous ovarian carcinoma (MOC) has poor chemotherapy response and prognosis and lacks biomarkers to aid stage I adjuvant treatment. Differentiating primary MOC from gastrointestinal (GI) metastases to the ovary is also challenging due to phenotypic similarities. Clinicopathologic and gene-expression data were analyzed to identify prognostic and diagnostic features. EXPERIMENTAL DESIGN: Discovery analyses selected 19 genes with prognostic/diagnostic potential. Validation was performed through the Ovarian Tumor Tissue Analysis consortium and GI cancer biobanks comprising 604 patients with MOC (n = 333), mucinous borderline ovarian tumors (MBOT, n = 151), and upper GI (n = 65) and lower GI tumors (n = 55). RESULTS: Infiltrative pattern of invasion was associated with decreased overall survival (OS) within 2 years from diagnosis, compared with expansile pattern in stage I MOC [hazard ratio (HR), 2.77; 95% confidence interval (CI), 1.04–7.41, P = 0.042]. Increased expression of THBS2 and TAGLN was associated with shorter OS in MOC patients (HR, 1.25; 95% CI, 1.04–1.51, P = 0.016) and (HR, 1.21; 95% CI, 1.01–1.45, P = 0.043), respectively. ERBB2 (HER2) amplification or high mRNA expression was evident in 64 of 243 (26%) of MOCs, but only 8 of 243 (3%) were also infiltrative (4/39, 10%) or stage III/IV (4/31, 13%). CONCLUSIONS: An infiltrative growth pattern infers poor prognosis within 2 years from diagnosis and may help select stage I patients for adjuvant therapy. High expression of THBS2 and TAGLN in MOC confers an adverse prognosis and is upregulated in the infiltrative subtype, which warrants further investigation. Anti-HER2 therapy should be investigated in a subset of patients. MOC samples clustered with upper GI, yet markers to differentiate these entities remain elusive, suggesting similar underlying biology and shared treatment strategies

Statistical modelling of geographical trends in the Australian HIV Epidemic

This thesis presents a series of publications analysing geographical trends in Australian HIV incidence, diagnosis and clinical service provision. In Chapter two, estimates of HIV incidence among men who have sex with men are presented using national case reporting surveillance data and a modified statistical back-projection method. It was found that HIV diagnoses in Australia reflected changes in estimated incidence to 2000, and revealed an increase in Queensland in the subsequent ten years. In Chapter three, a study is presented to identify clinical opportunities for targeting HIV testing, by Local Health District of NSW. The Australian HIV database was linked to cancer diagnoses, notifiable condition diagnoses, emergency department presentations and hospital admissions for all HIV diagnoses between 1993 and 2012 in NSW. Date of HIV acquisition was estimated from back-projection models. Sexually transmitted infection diagnoses (particularly gonorrhoea) and some hospital admissions (mental health and non-infective digestive disorder diagnoses) were common among people estimated to be living with undiagnosed HIV. People with these diagnoses could be targeted for increased HIV testing to facilitate earlier and efficient HIV diagnosis. A retrospective analysis of HIV clinical service capacity records in Australia is presented in Chapter four. The number of hospital departments, sexual health services, general practitioners and shared-care services providing expertise in HIV management from 2007 to 2010 was obtained from the Australasian Society for HIV Medicine. There was a decreasing supply of HIV clinical service capacity in Australia despite increasing numbers of people living with HIV (PLHIV). This is extended in Chapter five by elucidating more precisely the number and location of the HIV clinical workforce capacity to enable service planning. A survey of HIV services was conducted and novel geostatistical analysis was used to identify significant regions of clinical service undersupply, relative to the estimated number of PLHIV in 2010 and 2020. In 2010, an estimated 9.7% of all PLHIV resided in regions more than 15 km from a HIV clinical service provider. By 2020, this is estimated to rise to 11.5%. The establishment of new HIV services are most required in the areas of greatest HIV clinical undersupply

Postpartum anal incontinence in women with and without obstetric anal sphincter injuries

© 2020, The International Urogynecological Association. Introduction and hypothesis: Postpartum anal incontinence is common and distressing for women. We sought to look at the prevalence of anal incontinence in women who sustained obstetric anal sphincter injuries (OASI) compared with women who did not, and factors leading to these symptoms during the postpartum period. Methods: A total of 129 primiparous women sustaining OASI were compared with 131 women who did not (controls). They were contacted at approximately 6–10 weeks postpartum to obtain information on their symptoms of anal incontinence (AI). The data underwent univariate and multivariate analysis. Results: There was no difference in the prevalence of AI symptoms, occurring in 30% of women with OASI, and 23% of women without at 6–10 weeks postpartum; however, in women with high-grade tears the prevalence was 59%. Severe OASI (grade 3c and 4) was associated with an increased prevalence of both AI and severe AI, whereas forceps delivery and increasing maternal age were associated with an increased prevalence of severe AI only. Conclusion: Women with less severe (grade 3a and 3b) OASI do not experience a higher prevalence of AI than women without OASI in the postpartum period. Higher grade (3c and 4) tears, forceps delivery and increasing maternal age are associated with higher rates of AI. These factors should be avoided where possible to reduce postpartum AI. All women should be warned of the 23–30% chance of experiencing some mild AI in this period. Whether these symptoms are transient or long-lasting requires further investigation

Identifying missed clinical opportunities for the earlier diagnosis of HIV in Australia, a retrospective cohort data linkage study.

BackgroundTreatment as prevention approaches for HIV require optimal HIV testing strategies to reduce undiagnosed HIV infections. In most settings, HIV testing strategies still result in unacceptably high rates of missed and late diagnoses. This study aimed to identify clinical opportunities for targeted HIV testing in persons at risk to facilitate earlier HIV diagnosis in New South Wales, Australia; and to assess the duration between the diagnosis of specific conditions and HIV diagnosis.MethodsThe Australian National HIV registry was linked to cancer diagnoses, notifiable condition diagnoses, emergency department presentations and hospital admissions for all HIV diagnoses between 1993 and 2012 in NSW. Date of HIV acquisition was estimated from back-projection models and people with a likely duration from infection to diagnosis of less than 180 days were excluded. Risk factors associated with clinical opportunities for the earlier diagnosis of HIV were identified.ResultsSexually transmitted infection diagnoses (particularly gonorrhoea and syphilis) and some hospital admissions (mental health and drug-related diagnoses, and non-infective digestive disorder diagnoses) were prominent among people estimated to be living with undiagnosed HIV. The length of time between a clinical opportunity for the earlier HIV diagnosis and actual HIV diagnosis was 13.3 months for notifiable conditions, and 15.2 months for hospital admissions. People with lower CD4+ cell count at diagnosis, and older people were significantly less likely to have a missed opportunity for earlier HIV diagnosis.ConclusionsAdditional targeted clinical HIV testing strategies are warranted for people with gonorrhoea and syphilis; and hospital presentations or admissions for mental health, drug-related and gastrointestinal diagnoses

Correlation of various published radionuclide glomerular filtration rate estimation techniques and proposed paediatric normative data

Objective The aim of this study is to assess the comparability and interchangeability of the radionuclide glomerular filtration rate (GFR) using different published techniques, and propose normative data for paediatrics