Most investigations of savant skills in autism are based on individual case reports. The present study investigated rates and types of savant skills in 137 individuals with autism (mean age 24 ...years). Intellectual ability ranged from severe intellectual impairment to superior functioning. Savant skills were judged from parental reports and specified as 'an outstanding skill/knowledge clearly above participant's general level of ability and above the population norm'. A comparable definition of exceptional cognitive skills was applied to Wechsler test scores-requiring a subtest score at least 1 standard deviation above general population norms and 2 standard deviations above the participant's own mean subtest score. Thirty-nine participants (28.5%) met criteria for either a savant skill or an exceptional cognitive skill: 15 for an outstanding cognitive skill (most commonly block design); 16 for a savant skill based on parental report (mostly mathematical/calculating abilities); 8 met criteria for both a cognitive and parental rated savant skill. One-third of males showed some form of outstanding ability compared with 19 per cent of females. No individual with a non-verbal IQ below 50 met criteria for a savant skill and, contrary to some earlier hypotheses, there was no indication that individuals with higher rates of stereotyped behaviours/interests were more likely to demonstrate savant skills.
Translating research, achieving impact, and assessing impact are important aspirations for all research collaboratives but can prove challenging. The Hunter Cancer Research Alliance (HCRA) was funded ...from 2014 to 2021 to enhance capacity and productivity in cancer research in a regional centre in Australia. This study aimed to assess the impact and benefit of the HCRA to help inform future research investments of this type.
The Framework to Assess the Impact from Translational health research (FAIT) was selected as the preferred methodology. FAIT incorporates three validated methodologies for assessing impact: 1) Modified Payback; 2) Economic Analysis; and 3) Narrative overview and case studies. All three FAIT methods are underpinned by a Program Logic Model. Data were collected from HCRA and the University of Newcastle administrative records, directly from HCRA members, and website searches.
In addition to advancing knowledge and providing capacity building support to members via grants, fellowships, scholarships, training, events and targeted translation support, key impacts of HCRA-member research teams included: (i) the establishment of a regional biobank that has distributed over 13,600 samples and became largely self-sustaining; (ii) conservatively leveraging $43.8 M (s.a.$20.5 M - $160.5 M) in funding and support from the initial $9.7 M investment; (iii) contributing to clinical practice guidelines and securing a patent for identification of stem cells for endometrial cell regeneration; (iv) shifting the treatment paradigm for all tumour types that rely on nerve cell innervation, (v) development and implementation of the world's first real-time patient treatment verification system (Watchdog); (vi) inventing the effective 'EAT' psychological intervention to improve nutrition and outcomes in people experiencing radiotherapy for head and neck cancer; (vi) developing effective interventions to reduce smoking rates among priority groups, currently being rolled out to disadvantaged populations in NSW; and (vii) establishing a Consumer Advisory Panel and Consumer Engagement Committee to increase consumer involvement in research.
Using FAIT methodology, we have demonstrated the significant impact and downstream benefits that can be achieved by the provision of infrastructure-type funding to regional and rural research collaboratives to help address inequities in research activity and health outcomes and demonstrates a positive return on investment.
Celotno besedilo
Dostopno za:
CEKLJ, DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Dementia is an insidious and stigmatised condition, and research indicates that GPs find communicating this diagnosis particularly problematic. Delays in diagnosis may impede optimal patient care. ...Little research has been published on Australian GPs' perceptions of barriers to disclosing the diagnosis of dementia.
To explore GPs' perceptions of barriers to disclosing the diagnosis of dementia.
Qualitative study in the general practice consultation context.
Semi-structured, audiorecorded interviews were conducted with GPs from three capital cities and one regional centre in Australia. Interviews were transcribed verbatim and thematic analysis was conducted.
GPs' lack of confidence in having a correct diagnosis, concern to act in patients' best interests, and the stigma associated with the 'dementia' label influenced the disclosure process. GPs found it challenging to identify dementia in the consultation context. It was difficult to raise the issue when both the patient and their family/carer(s) ignore/are unaware of symptoms of cognitive decline. Referral to a specialist was favoured to confirm suspicions, although this did not always result in a definitive diagnosis. Opinions differed as to whether the GP or the specialist was better placed to deliver the diagnosis. GPs preferred disclosure to the patient with his/her family/carer(s) present; associated issues of confidentiality and the importance of offering hope emerged. The severity of the patient's dementia also guided the diagnostic disclosure process. GPs often used euphemisms for dementia when disclosing the diagnosis, to soften the message.
Complex issues surround the disclosure of dementia. Communicating this diagnosis remains particularly challenging for many GPs.
Background: Identification of factors associated with quality of life (QoL) in people having dementia will help develop strategies for maintenance and improvement of patient QoL. This study examined ...the predictors of QoL in a community-dwelling population aged 75 years and over, with or without dementia.
Methods: This was a cross-sectional study involving 169 GPs and 2,028 patients. Patients were interviewed to collect information on personal circumstances. Several instruments were administered including the WHOQOL-BREF (quality of life outcome measure), Geriatric Depression Scale, GPAQ (satisfaction with GP care), and the CAMCOG-R (cognitive function). Patients with a CAMCOG-R score < 80 were allocated to the dementia group. GPs provided an independent clinical judgment of cognitive function for each of their participating patients.
Results: The dementia group had significantly lower QoL scores in all four domains of the WHOQOL-BREF (all p ≤ 0.002). The GDS score was negatively correlated with all four domains in the non-dementia group and with physical, psychological, and environmental QoL in the dementia group (all p < 0.001). Satisfaction with GP communication was positively associated with psychological QoL in the dementia group and all domains in the non-dementia group. Participants in the dementia group who had been given a diagnosis of a memory problem had significantly higher physical (2.05, 95% CI 0.36 to 3.74) and environmental (2.18, 95% CI 0.72 to 3.64) QoL.
Conclusions: Satisfaction with GP communication is associated with a higher QoL in their older patients. Diagnosis and disclosure of memory problems is associated with better QoL in people with dementia. Clinicians should not be deterred from discussing a memory diagnosis and plans for the future with patients.
Background Previous studies have shown variable correlation of patients’ self‐assessed skin severity measures and clinician‐assessed objective measures of severity. But, generally, correlation has ...not been as good as might be expected for conditions in which the objective physical extent of skin disease is apparent to the sufferer to an extent that is not applicable in many other diseases.
Methods This paper reports agreement and correlation of self‐assessed and objective severity measures in a study of 108 subjects with acne, psoriasis, or atopic eczema. The study was a cross‐sectional study examining psychological associations of these skin diseases. Objective severity was assessed with the Leeds technique (acne), the Psoriasis Area and Severity Index, and Six Area Six Sign Atopic Dermatitis instruments. Agreement is a more appropriate measure than correlation in this situation and was measured with weighted kappa, while correlation was measured with Spearman’s rank correlation.
Results There was a modest correlation of ρ = 0.46 and similarly very modest agreement of 0.35 (weighted kappa) of self‐assessed and clinician‐assessed disease severity. Furthermore, self‐assessed (but not clinician‐assessed) severity was statistically associated with psychological morbidity in this study; i.e. – depression, anxiety, and overall psychological morbidity.
Conclusions Clinicians should consider psychological sequelae of skin disease, not only in those with objectively more severe disease but in patients across the severity spectrum. Both observational and interventional studies of skin disease should include both clinician‐assessed and self‐assessed measures of severity among assessed variables.
ABSTRACT
Background and Aim:
Refractory constipation is an extremely common problem in infants and children. The diagnostic suspicion of Hirschsprung disease often arises in this clinical setting. ...Diagnosing Hirschsprung disease can be difficult; however, excluding the diagnosis is much easier, only requiring the demonstration of ganglion cells in the distal rectum. The most common method for obtaining tissue from the rectum involves a blind suction biopsy. This technique has been complicated by serious adverse events, equipment malfunction, and inadequate specimens. Our goal was to evaluate the adequacy of specimens obtained with a flexible endoscope and jumbo biopsy forceps to rule out Hirschsprung disease in the child outside the newborn period.
Patients and Methods:
We retrospectively reviewed 668 rectal biopsies taken during 167 endoscopies on 156 patients being evaluated for Hirschsprung disease from 2001 to 2008 at the Baystate Medical Center Children's Hospital. Four biopsies were taken from each patient approximately 2.5 cm from the anal verge. Biopsies were obtained using a flexible endoscope and jumbo biopsy forceps. During the first 6 years the Olympus FB‐50U‐1 large cup fenestrated biopsy forceps was used. During the last 2 years the Boston Scientific Radial Jaw 4 Jumbo biopsy forceps was used instead.
Results:
The Boston Scientific Radial Jaw 4 Jumbo biopsy forceps yielded adequate specimens 93% of the time, which surpassed most published results of other techniques. There were no complications reported.
Conclusions:
Obtaining rectal biopsies with a flexible endoscope and jumbo biopsy forceps is a safe and effective means to rule out the diagnosis of Hirschsprung disease in children.
Objective: To compare the demographics of general practitioners in two practice‐based research networks (PBRNs) and to explore the generalisability of research findings from these PBRNs.
Design, ...setting and participants: Cross‐sectional questionnaire‐based study of two geographically‐based PBRNs — Hunter New England Central Coast Network of Research General Practices (NRGP) and Primary Healthcare Research Network‐General Practice (PHReNet‐GP) — during August–September 2010. All 183 GP members of both PBRNs were invited to participate; of these, 140 (77%) participated.
Main outcome measures: GPs’ demographics, use of languages other than English in consultations, and previous participation in research. Practices’ use of practice nurses. Socioeconomic status and rurality or urbanicity of practice location.
Results: Compared with PHReNet‐GP GPs, NRGP GPs were more likely to work in a practice employing a practice nurse (100% v 53.8%; 95% CI for difference, 30.5%–61.8%; P < 0.001), worked in larger practices (2.9 more full‐time‐equivalent GPs per practice; 95% CI, 2.1–3.6; P < 0.001), and were less likely to work in a major city (33.7% v 89.7%; 95% CI for difference, 42.8%–69.3%; P < 0.001). NRGP GPs also worked in practices with a different spectrum of socioeconomic disadvantage, and were less likely to have been involved in research as a researcher (35.4% v 76.9%; 95% CI for difference, 25.3%–57.8%; P < 0.001). Fewer NRGP GPs consulted in languages other than English (8.9% v 64.1%; 95% CI for difference, 39.1%–71.2%; P < 0.001). There were also differences between these and national general practice statistics.
Conclusions: These results suggest possible lack of generalisability of findings from some types of studies conducted in single PBRNs. In such circumstances, collaboration of PBRNs may produce more generalisable results.
Objective. To examine the experiences of occupational violence in general practitioner (GP) and non-GP staff. Further objectives were to compare prevalence of violence in GP and non-GP staff and to ...examine levels of apprehension and perceptions of control over violence. Design. Cross-sectional questionnaire-based study. Setting. A network of research general practices, New South Wales, Australia. Participants. GPs and non-GP staff - receptionist, practice-management, nursing and allied health staff. Main outcome measure(s). Experience of occupational violence during the previous 12 months. Other outcomes examined were workplace apprehension regarding violence, perception of occupational violence as a problem in general practice, and perception of control over violence in the workplace. Results. A total of 125 questionnaire replies were received (response rate 55%), 59.3% of GPs and 74.6% of non-GPs had experienced work-related violence during the previous 12 months. The difference was not significant (OR 0.65, 95% CI 0.20-2.06). Subjects in rural practices were more likely than those in urban practices to have experienced violence (OR 3.79, 95% CI 1.15-12.5). Personal experience of violence (OR 35.9, 95% CI 6.24-207) and a perception that violence is increasing (OR 8.33, 95% CI 1.89-36.6) were associated with apprehension regarding violence at work.
In 2011, Watson and Barnes proposed a schema for classifying biobanks into 3 groups (mono-, oligo-, and poly-user), primarily based upon biospecimen access policies. We used results from a recent ...comprehensive survey of cancer biobanks in New South Wales, Australia to assess the applicability of this biobank classification schema in an Australian setting. Cancer biobanks were identified using publically available data, and by consulting with research managers. A comprehensive survey was developed and administered through a face-to-face setting. Data were analyzed using Microsoft Excel™ 2010 and IBM SPSS Statistics™ version 21.0. The cancer biobank cohort (n=23) represented 5 mono-user biobanks, 7 oligo-user biobanks, and 11 poly-user biobanks, and was analyzed as two groups (mono-/oligo- versus poly-user biobanks). Poly-user biobanks employed significantly more full-time equivalent staff, and were significantly more likely to have a website, share staff between biobanks, access governance support, utilize quality control measures, be aware of biobanking best practice documents, and offer staff training. Mono-/oligo-user biobanks were significantly more likely to seek advice from other biobanks. Our results further delineate a biobank classification system that is primarily based on access policy, and demonstrate its relevance in an Australian setting.
The diagnostic boundaries of the behavioural phenotype for autism were examined in 28 MZ pairs and 20 DZ same-sex twin pairs, where one or both twins had autism. In the non-autistic cotwin (i.e. in ...twin pairs discordant for autism) it was common to find language impairments in childhood and social deficits persisting into adulthood. Concordance for this broader phenotype was much greater in MZ pairs than DZ pairs, indicating a strong genetic component. Behavioural and cognitive manifestations of autism were compared both within and between MZ twin pairs. The variation was as great within MZ twin pairs as between pairs, suggesting that it does not index genetic heterogeneity (although aetiological heterogeneity probably exists). Current diagnostic practices need re-evaluation.
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