68 research outputs found

    “From the technology came the idea”: safe implementation and operation of a high quality teleradiology model increasing access to timely breast cancer assessment services for women in rural Australia

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    Abstract: Breast cancer is the most commonly diagnosed cancer in Australian women. Providing timely diagnostic assessment services for screen-detected abnormalities is a core quality indicator of the population-based screening program provided by BreastScreen Australia. However, a shortage of local and locum radiologists with availability and appropriate experience in breast work to attend onsite assessment clinics, limits capacity of services to offer assessment appointments to women in some regional centres. In response to identified need, local service staff developed the remote radiology assessment model for service delivery. This study investigated important factors for establishing the model, the challenges and enablers of successful implementation and operation of the model, and factors important in the provision of a model considered safe and acceptable by service providers. Methods: Semi-structured interviews were conducted with service providers at four assessment services, across three jurisdictions in Australia. Service providers involved in implementation and operation of the model at the service and jurisdictional level were invited to participate. A social constructivist approach informed the analysis. Deductive analysis was initially undertaken, using the interview questions as a classifying framework. Subsequently, inductive thematic analysis was employed by the research team. Together, the coding team aggregated the codes into overarching themes. Results: 55 service providers participated in interviews. Consistently reported enablers for the safe implementation and operation of a remote radiology assessment clinic included: clinical governance support; ability to adapt; strong teamwork, trust and communication; and, adequate technical support and equipment. Challenges mostly related to technology and internet (speed/bandwidth), and maintenance of relationships within the group. Conclusions: Understanding the key factors for supporting innovation, and implementing new and safe models of service delivery that incorporate telemedicine, will become increasingly important as technology evolves and becomes more accessible. It is possible to take proposed telemedicine solutions initiated by frontline workers and operationalise them safely and successfully: (i) through strong collaborative relationships that are inclusive of key experts; (ii) with clear guidance from overarching bodies with some flexibility for adapting to local contexts; (iii) through establishment of robust teamwork, trust and communication; and, (iv) with appropriate equipment and technical support

    Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD.

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    Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (β = 0.078, p = .023), but not ASD (β = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, ηp2\eta _p^2=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation

    Neural and behavioural indices of face processing in siblings of children with autism spectrum disorder (ASD): A longitudinal study from infancy to mid-childhood.

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    Impaired face processing is proposed to play a key role in the early development of autism spectrum disorder (ASD) and to be an endophenotypic trait which indexes genetic risk for the disorder. However, no published work has examined the development of face processing abilities from infancy into the school-age years and how they relate to ASD symptoms in individuals with or at high-risk for ASD. In this novel study we investigated neural and behavioural measures of face processing at age 7 months and again in mid-childhood (age 7 years) as well as social-communication and sensory symptoms in siblings at high (n = 42) and low (n = 35) familial risk for ASD. In mid-childhood, high-risk siblings showed atypical P1 and N170 event-related potential correlates of face processing and, for high-risk boys only, poorer face and object recognition ability compared to low-risk siblings. These neural and behavioural atypicalities were associated with each other and with higher social-communication and sensory symptoms in mid-childhood. Additionally, more atypical neural correlates of object (but not face) processing in infancy were associated with less right-lateralised (more atypical) N170 amplitudes and greater social-communication problems in mid-childhood. The implications for models of face processing in ASD are discussed

    Look duration at the face as a developmental endophenotype: elucidating pathways to autism and ADHD.

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    Identifying developmental endophenotypes on the pathway between genetics and behavior is critical to uncovering the mechanisms underlying neurodevelopmental conditions. In this proof-of-principle study, we explored whether early disruptions in visual attention are a unique or shared candidate endophenotype of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We calculated the duration of the longest look (i.e., peak look) to faces in an array-based eye-tracking task for 335 14-month-old infants with and without first-degree relatives with ASD and/or ADHD. We leveraged parent-report and genotype data available for a proportion of these infants to evaluate the relation of looking behavior to familial (n = 285) and genetic liability (using polygenic scores, n = 185) as well as ASD and ADHD-relevant temperament traits at 2 years of age (shyness and inhibitory control, respectively, n = 272) and ASD and ADHD clinical traits at 6 years of age (n = 94).Results showed that longer peak looks at the face were associated with elevated polygenic scores for ADHD (β = 0.078, p = .023), but not ASD (β = 0.002, p = .944), and with elevated ADHD traits in mid-childhood (F(1,88) = 6.401, p = .013, ηp2\eta _p^2=0.068; ASD: F (1,88) = 3.218, p = .076), but not in toddlerhood (ps > 0.2). This pattern of results did not emerge when considering mean peak look duration across face and nonface stimuli. Thus, alterations in attention to faces during spontaneous visual exploration may be more consistent with a developmental endophenotype of ADHD than ASD. Our work shows that dissecting paths to neurodevelopmental conditions requires longitudinal data incorporating polygenic contribution, early neurocognitive function, and clinical phenotypic variation

    Adaptive Behaviour and Cognitive Skills: Stability and Change from 7 Months to 7 Years in Siblings at High Familial Risk of Autism Spectrum Disorder.

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    Cognitive and adaptive behaviour abilities early in life provide important clinical prognostic information. We examined stability of such skills in children at high familial risk for ASD who either met diagnostic criteria for ASD at age 7 years (HR-ASD, n = 15) or did not (HR-non-ASD, n = 24) and low-risk control children (LR, n = 37), prospectively studied from infancy. For both HR groups, cognitive skills were consistently lower across time than those of LR children. HR-ASD children showed increasing difficulties in adaptive behaviour over time compared to LR children, while the HR-non-ASD children showed no such difficulties. This pattern of change may inform our understanding of developmental profiles of HR siblings beyond core ASD symptoms

    Inter-individual variability in the improvement of physiological risk factors for disease: gene polymorphisms or simply regression to the mean?

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    In an informative and balanced review, Mori et al. (2009) explored the perplexing question of why people differ in their individual physiological responses to exercise training. We agree fully with Mori et al. (2009) that gene polymorphisms couldaccount for inter-individual differences in the exercise-modulated response of physiological risk factors of disease, and that a better understanding of associated issues should lead to more effective exercise prescription

    Clinical features of bowel disease in patients aged <50 years in primary care: a large case-control study

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    Background Incidences of colorectal cancer (CRC) and inflammatory bowel disease (IBD) are increasing in those aged 3% for rectal bleeding with diarrhoea, thrombocytosis, low MCV, low haemoglobin or raised inflammatory markers; for change in bowel habit with low MCV, thrombocytosis or low haemoglobin; and for diarrhoea with thrombocytosis. Conclusion This study quantified the risk of serious bowel disease in symptomatic patients aged <50 years in primary care. Rectal bleeding and change in bowel habit are strongly predictive of CRC/IBD when combined with abnormal haematology. The present findings help prioritise patients for colonoscopy where the diagnosis is not immediately apparent
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