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1.
  • Wang, Zhaoming, et al. (författare)
  • Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33
  • 2014
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:24, s. 6616-6633
  • Tidskriftsartikel (refereegranskat)abstract
    • Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 × 10(-39); Region 3: rs2853677, P = 3.30 × 10(-36) and PConditional = 2.36 × 10(-8); Region 4: rs2736098, P = 3.87 × 10(-12) and PConditional = 5.19 × 10(-6), Region 5: rs13172201, P = 0.041 and PConditional = 2.04 × 10(-6); and Region 6: rs10069690, P = 7.49 × 10(-15) and PConditional = 5.35 × 10(-7)) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 × 10(-18) and PConditional = 7.06 × 10(-16)). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.
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2.
  • Sampson, Joshua N., et al. (författare)
  • Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types
  • 2015
  • Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 107:12
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.
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3.
  • Jacobs, Kevin B, et al. (författare)
  • Detectable clonal mosaicism and its relationship to aging and cancer.
  • 2012
  • Ingår i: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 44:6, s. 651-658
  • Tidskriftsartikel (refereegranskat)abstract
    • In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of >2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 × 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.
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4.
  • Black, Melissa H., et al. (författare)
  • Multi-informant International Perspectives on the Facilitators and Barriers to Employment for Autistic Adults
  • 2020
  • Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 13:7, s. 1195-1214
  • Tidskriftsartikel (refereegranskat)abstract
    • Employment rates for autistic individuals are poor, even compared to those from other disability groups. Internationally, there remains limited understanding of the factors influencing employment across the stages of preparing for, gaining, and maintaining employment. This is the third in a series of studies conducted as part of an International Society for Autism Research (INSAR) policy brief intended to improve employment outcomes for autistic individuals. A multi-informant international survey with five key stakeholder groups, including autistic individuals, their families, employers, service providers, and researchers, was undertaken in Australia, Sweden, and the United States to understand the facilitators and barriers to employment for autistic adults. A total of 687 individuals participated, including autistic individuals (n = 246), family members (n = 233), employers (n = 35), clinicians/service providers (n = 123), and researchers (n = 50). Perceptions of the facilitators and barriers to employment differed significantly across both key stakeholder groups and countries, however, ensuring a good job match and focusing on strengths were identified by all groups as important for success. Key barriers to employment included stigma, a lack of understanding of autism spectrum disorder (ASD) and communication difficulties. Results suggest that a holistic approach to employment for autistic individuals is required, aimed at facilitating communication between key stakeholders, addressing attitudes and understanding of ASD in the workplace, using strength-based approaches and providing early work experience. LAY SUMMARY: Autistic individuals experience significant difficulty getting and keeping a job. This article presents a survey study involving autistic individuals, their families, employers, service providers and researchers in Australia, Sweden, and the United States to understand their perspectives on the factors that support or act as barriers to employment. While perspectives varied across key stakeholders, strategies such as using a holistic approach, targeting workplace attitudes and understanding, focusing on strengths, and providing early work experience are important for success. 
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5.
  • Black, Melissa H., et al. (författare)
  • Preventing suicide in post-secondary students : a scoping review of suicide prevention programs
  • 2023
  • Ingår i: European Child and Adolescent Psychiatry. - : Springer Science and Business Media LLC. - 1018-8827 .- 1435-165X. ; 32:5, s. 735-771
  • Forskningsöversikt (refereegranskat)abstract
    • Suicide among students enrolled in post-secondary education, including university or college, is a major public health concern. Previous research has examined the effectiveness of suicide prevention programs for this population. However, the effective elements of these interventions remain unknown. This study reviewed the literature on suicide prevention programs for post-secondary students, exploring and identifying those elements likely contributing to their effectiveness. A scoping review process was undertaken exploring suicide prevention programs for post-secondary students. Methodological quality of the articles was assessed, and content analysis was used to explore the programs and their effective elements. Twenty seven articles were included in this review, covering a variety of approaches. Gatekeeper training programs were the most common type of suicide prevention program. Programs for post-secondary students may be effective in improving student rates of engagement with mental health services and were associated with greater knowledge, and help-seeking attitudes and behaviors, and gatekeeper-related outcomes. While evidence was found supporting the effectiveness of some interventions such as gatekeeper programs to influence suicide-related knowledge, attitudes and behaviour, further and more rigorous research surrounding suicide prevention programs for post-secondary students is required, with a particular emphasis on student outcomes.
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6.
  • Johnston, Jennifer J., et al. (författare)
  • Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
  • 2010
  • Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 31:10, s. 1142-1154
  • Tidskriftsartikel (refereegranskat)abstract
    • A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial- digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria. Hum Mutat 31:1142-1154, 2010. (C) 2010 Wiley-Liss, Inc.
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7.
  • Scott, Melissa, et al. (författare)
  • Factors impacting employment for people with autism spectrum disorder : A scoping review
  • 2019
  • Ingår i: Autism. - : Sage Publications. - 1362-3613 .- 1461-7005. ; 23:4, s. 869-901
  • Forskningsöversikt (refereegranskat)abstract
    • The aim of this study is to holistically synthesise the extent and range of literature relating to the employment of individuals with autism spectrum disorder. Database searches of Medline, CINAHL, PsychINFO, Scopus, ERIC, Web of Science and EMBASE were conducted. Studies describing adults with autism spectrum disorder employed in competitive, supported or sheltered employment were included. Content analysis was used to identify the strengths and abilities in the workplace of employees with autism spectrum disorder. Finally, meaningful concepts relating to employment interventions were extracted and linked to the International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder. The search identified 134 studies for inclusion with methodological quality ranging from limited to strong. Of these studies, only 36 evaluated employment interventions that were coded and linked to the International Classification of Functioning, Disability and Health, primarily focusing on modifying autism spectrum disorder characteristics for improved job performance, with little consideration of the impact of contextual factors on work participation. The International Classification of Functioning, Disability and Health Core Sets for autism spectrum disorder are a useful tool in holistically examining the employment literature for individuals with autism spectrum disorder. This review highlighted the key role that environmental factors play as barriers and facilitators in the employment of people with autism spectrum disorder and the critical need for interventions which target contextual factors if employment outcomes are to be improved. 
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8.
  • White, Jia, et al. (författare)
  • Creating Inclusive Schools for Autistic Students : A Scoping Review on Elements Contributing to Strengths-Based Approaches
  • 2023
  • Ingår i: Education Sciences. - : MDPI. - 2227-7102. ; 13:7
  • Forskningsöversikt (refereegranskat)abstract
    • Strengths-based approaches leveraging the strengths and interests of autistic students are increasingly recognised as important to meeting their school-related needs. A scoping review exploring elements contributing to strengths-based approaches for autistic students in schools was undertaken. Eighteen articles were identified, with results conceptualised according to the Bioecological Model of Development. One personal (strengths and interests), six microsystem (specialised instructions, curriculum integration, curriculum differentiation, common interests with peers, reciprocal roles and adult involvement), three mesosystem (matching resources and activities, real-life learning experiences and benefiting all students), and three exosystem (cost-effective and timesaving, collaboration with colleagues and parents and teachers' attitude and knowledge) elements were identified. Findings highlight the interrelatedness of the elements contributing to strengths-based approaches for autistic students, which can be used to aid in the development of more inclusive school environments.
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9.
  • Afsharnejad, Bahareh, et al. (författare)
  • Cross-cultural adaptation to Australia of the KONTAKT© Social Skills Group Training Program for Youth with Autism Spectrum Disorder : A feasibility study
  • 2020
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 50, s. 4297-4316
  • Tidskriftsartikel (refereegranskat)abstract
    • This study investigated the feasibility and cultural validity of KONTAKT©, a manualised social skills group training, in improving the social functioning of adolescents with autism spectrum disorder (ASD). KONTAKT© was delivered to 17 adolescents (mage = 14.09, SDage = 1.43; 70% male) with ASD over sixteen 90 min sessions. A pre-test post-test design evaluated changes in personally meaningful social goals, symptom severity, quality of life, interpersonal efficacy, social anxiety, loneliness, and facial emotion recognition at pre, post and 3 months follow-up. Focus groups were conducted post intervention. Findings indicate that KONTAKT© may support Australian adolescents with ASD in achieving their personally meaningful social goals. This study resulted in finalisation of KONTAKT© in preparation for evaluation of its efficacy in a randomised controlled trial (Australian New Zealand Clinical Registry (ANZCTR): ACTRN12617001117303, ClinicalTrials.gov: NCT03294668).
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10.
  • Afsharnejad, Bahareh, et al. (författare)
  • KONTAKT© for Australian adolescents on the autism spectrum : Protocol of a randomized control trial
  • 2019
  • Ingår i: Trials. - : BioMed Central. - 1745-6215. ; 20:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND:Individuals diagnosed with autism spectrum disorder (ASD) experience impairing challenges in social communication and interaction across multiple contexts. While social skills group training (SSGT) has shown moderate effects on various sociability outcomes in ASD, there is a need for (1) replication of effects in additional clinical and cultural contexts, (2) designs that employ active control groups, (3) calculation of health economic benefits, (4) identification of the optimal training duration, and (5) measurement of individual goals and quality of life outcomes.METHOD/DESIGN:With the aim of investigating the efficacy and cost-effectiveness of a SSGT, KONTAKT©, a two-armed randomized control trial with adolescents aged 12-17 years (N = 90) with ASD and an intelligence quotient (IQ) of over 70 will be undertaken. Following stratification for centre and gender, participants will be randomly assigned to either KONTAKT© or to an active control group, a group-based cooking programme. Participants will attend both programmes in groups of 6-8 adolescents, over 16 one-and-a-half-hour sessions. The primary outcome examined is adolescent self-rated achievement of personally meaningful social goals as assessed via the Goal Attainment Scaling during an interview with a blinded clinician. Secondary outcomes include adolescent self-reported interpersonal efficacy, quality of life, social anxiety, loneliness, face emotion recognition performance and associated gaze behaviour, and parent proxy reports of autistic traits, quality of life, social functioning, and emotion recognition and expression. Cost-effectiveness will be investigated in relation to direct and indirect societal and healthcare costs.DISCUSSION:The primary outcomes of this study will be evidenced in the anticipated achievement of adolescents' personally meaningful social goals following participation in KONTAKT© as compared to the active control group. This design will enable rigorous evaluation of the efficacy of KONTAKT©, exercising control over the possibly confounding effect of exposure to a social context of peers with a diagnosis of ASD.TRIAL REGISTRATION:Australian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12617001117303. Registered on 31 July 2017. anzctr.org.au ClinicalTrials.gov, NCT03294668. Registered on 22 September 2017. https://clinicaltrials.gov.
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11.
  • Afsharnejad, Bahareh, et al. (författare)
  • KONTAKT (R) social skills group training for Australian adolescents with autism spectrum disorder : a randomized controlled trial
  • 2022
  • Ingår i: European Child and Adolescent Psychiatry. - : Springer. - 1018-8827 .- 1435-165X. ; 31, s. 1695-1713
  • Tidskriftsartikel (refereegranskat)abstract
    • While there is a large body of evidence drawn from randomised controlled trials supporting the efficacy of SSGT in autistic adolescents, the control arms of these studies are almost exclusively treated either as usual or waitlist. Addressing this limitation, 90 verbal autistic adolescents (70% male) aged 12-17 years (M = 13.77, SD = 1.6) with IQ > 70 participated in this pragmatic two-armed randomised controlled trial design study evaluating the efficacy of sixteen 90-min sessions of SSGT KONTAKT (R) (n = 46) in comparison to a manualised interactive group cooking programme (n = 44) of equal dosage controlling for the potentially confounding effects of exposure to a social group context. The primary outcome was the adolescents' progress towards achieving their personally meaningful social goals at follow-up. Secondary outcomes were changes in autistic traits, quality of life, facial emotion recognition skills, social anxiety, and loneliness. Assessments were conducted at baseline, post intervention and 12-week follow-up. The interaction between time point and group allocation was investigated through a random-effects regression model (linear mixed model) to examine changes in the dependent outcomes. While intention-to-treat analysis (N = 90) demonstrated that both SSGT (ES = 1.36, p < .001) and active control (ES = 1.10, p < .001) groups made progress towards their personally meaningful social goals at follow-up, KONTAKT (R) participants demonstrated greater progress in social goal attainment than their peers in the active control group (ES = 0.35, p = .04). Findings suggest that KONTAKT (R) is efficacious in supporting autistic adolescents to achieve their personally meaningful social goals compared to other prosocial group activities.
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12.
  • Afsharnejad, Bahareh, et al. (författare)
  • The Methodological Quality and Intervention Fidelity of Randomised Controlled Trials Evaluating Social Skills Group Programs in Autistic Adolescents : A Systematic Review and Meta-analysis
  • 2024
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 54, s. 1281-1316
  • Forskningsöversikt (refereegranskat)abstract
    • A systematic review and meta-analysis were utilised to explore the methodological quality, program fidelity, and efficacy of social skills group programs (SSGPs) aiming to support autistic adolescents in navigating their everyday social worlds. The study evaluated the methodological quality and theoretical fidelity of studies, with a random effect meta-analysis conducted to summarise the overall efficacy of SSGP and its effect on social communication and interaction, behavioural/emotional challenges, adaptive functioning, and autism characteristics. Although findings from the 18 identified studies indicated an adjusted medium overall effect with these programs successfully supporting autistic adolescents’ socialisation needs (g = 0. 60, p < 0.001), most studies demonstrated medium to low program fidelity despite their good methodological quality. Given the significant heterogeneity of SSGPs and variations in the design and measurement frameworks of efficacy studies, understanding the generalisability of the findings of this research is unclear.
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13.
  • Barrdahl, Myrto, et al. (författare)
  • Association of breast cancer risk loci with breast cancer survival
  • 2015
  • Ingår i: International Journal of Cancer. - : Wiley-Blackwell. - 0020-7136 .- 1097-0215. ; 137:12, s. 2837-2845
  • Tidskriftsartikel (refereegranskat)abstract
    • The survival of breast cancer patients is largely influenced by tumor characteristics, such as TNM stage, tumor grade and hormone receptor status. However, there is growing evidence that inherited genetic variation might affect the disease prognosis and response to treatment. Several lines of evidence suggest that alleles influencing breast cancer risk might also be associated with breast cancer survival. We examined the associations between 35 breast cancer susceptibility loci and the disease over-all survival (OS) in 10,255 breast cancer patients from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3) of which 1,379 died, including 754 of breast cancer. We also conducted a meta-analysis of almost 35,000 patients and 5,000 deaths, combining results from BPC3 and the Breast Cancer Association Consortium (BCAC) and performed in silico analyses of SNPs with significant associations. In BPC3, the C allele of LSP1-rs3817198 was significantly associated with improved OS (HRper-allele=0.70; 95% CI: 0.58-0.85; ptrend=2.84 x 10-4; HRheterozygotes=0.71; 95% CI: 0.55-0.92; HRhomozygotes=0.48; 95% CI: 0.31-0.76; p2DF=1.45 x 10-3). In silico, the C allele of LSP1-rs3817198 was predicted to increase expression of the tumor suppressor cyclin-dependent kinase inhibitor 1C (CDKN1C). In the meta-analysis, TNRC9-rs3803662 was significantly associated with increased death hazard (HRMETA =1.09; 95% CI: 1.04-1.15; ptrend=6.6 x 10-4; HRheterozygotes=0.96 95% CI: 0.90-1.03; HRhomozygotes=1.21; 95% CI: 1.09-1.35; p2DF=1.25 x 10-4). In conclusion, we show that there is little overlap between the breast cancer risk single nucleotide polymorphisms (SNPs) identified so far and the SNPs associated with breast cancer prognosis, with the possible exceptions of LSP1-rs3817198 and TNRC9-rs3803662.What's new? Genetic factors are known to influence the risk of breast cancer, but inherited genetic variation may also affect disease prognosis and response to treatment. In this study, the we investigated whether single nucleotide polymorphisms (SNPs) that are known to be associated with breast cancer risk might also influence the survival of breast-cancer patients. While two of the investigated SNPs may influence survival, there was otherwise no indication that SNP alleles related to breast cancer risk also play a role in the survival of breast cancer patients.
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14.
  • Black, Melissa H., et al. (författare)
  • Disembedding performance and eye gaze behavior of adolescents with Autism Spectrum Disorder
  • 2019
  • Ingår i: Research in Autism Spectrum Disorders. - : Elsevier. - 1750-9467 .- 1878-0237. ; 66
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Atypical visual perception in individuals with Autism Spectrum Disorders (ASD) may contribute to superiority in disembedding tasks. Gaze behavior has provided some insights in to mechanisms underlying this purported superiority in children, however evidence is limited and requires additional investigation.Method: The performance and gaze behavior of 27 adolescents with ASD and 27 matched typically developing (TD) peers were examined during the Figure Ground Subtest of the Test of Visual Perception Skills-third edition (TVPS-3).Results: Compared to their TD counterparts, adolescents with ASD were no different in accuracy, however, had a longer response time. Differences in gaze behavior were also observed, characterized by adolescents with ASD spending less time viewing the incorrect and target figures, and spending a greater proportion of time viewing irrelevant areas of the stimuli compared to TD adolescents.Conclusions: Results suggest that while altered visual perception was observed, this did not contribute to superiority in disembedding tasks in adolescents with ASD. Future research is required to elucidate conditions under which altered visual perception may contribute to behavioral superiority. 
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15.
  • Black, Melissa H., et al. (författare)
  • Mechanisms of facial emotion recognition in autism spectrum disorders : Insights from eye tracking and electroencephalography
  • 2017
  • Ingår i: Neuroscience and Biobehavioral Reviews. - : Elsevier. - 0149-7634 .- 1873-7528. ; 80, s. 488-515
  • Forskningsöversikt (refereegranskat)abstract
    • While behavioural difficulties in facial emotion recognition (FER) have been observed in individuals with Autism Spectrum Disorder (ASD), behavioural studies alone are not suited to elucidate the specific nature of FER challenges in ASD. Eye tracking (ET) and electroencephalography (EEG) provide insights in to the attentional and neurological correlates of performance, and may therefore provide insight in to the mechanisms underpinning FER in ASD. Given that these processes develop over the course of the developmental trajectory, there is a need to synthesise findings in regard to the developmental stages to determine how the maturation of these systems may impact FER in ASD. We conducted a systematic review of fifty-four studies investigating ET or EEG meeting inclusion criteria. Findings indicate divergence of visual processing pathways in individuals with ASD. Altered function of the social brain in ASD impacts the processing of facial emotion across the developmental trajectory, resulting in observable differences in ET and EEG outcomes. 
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16.
  • Black, Melissa H., et al. (författare)
  • Perspectives of key stakeholders on employment of autistic adults across the United States, Australia and Sweden
  • 2019
  • Ingår i: Autism Research. - : John Wiley & Sons. - 1939-3792 .- 1939-3806. ; 12:11, s. 1648-1662
  • Tidskriftsartikel (refereegranskat)abstract
    • Despite efforts to improve employment outcomes for autistic individuals, internationally their employment rates remain low. There is a need to better understand the factors influencing successful employment for autistic adults in the labor market from the perspectives of multiple keystakeholders. This study represents the second in a series of papers conducted as part of an International Society for Autism Research policy brief aimed at improving employment outcomes for autistic individuals. A community consultation methodology using focus groups, forums, and interviews was applied with autistic individuals (n = 19), family members (n = 18), service providers (n = 21), employers (n = 11), researchers (n = 5), and advocacy group representatives (n = 5) in Australia, Sweden, and the United States, aiming to identify the factors perceived to determine gaining and maintaining employment for autistic individuals. Directed content analysis, guided by the International Classification of Functioning, Disability and Health (ICF), was conducted to investigate the key factors influencing employment outcomes for autistic individuals. Meaningful verbal concepts, or units of text with common themes, were also derived from the qualitative data and then linked and compared to the ICF Autism Spectrum Disorder (ASD) Core-sets. Across countries, activity and participation and environmental factor categories of the ICF were the most associated with employment outcomes. Results suggest that removal of environmental barriers and enhancing environmental facilitators may assist to remediate ASD-related difficulties in the workplace.LAY SUMMARY: This study sought to understand the perspectives of autistic individuals and key stakeholders on factors influencing if autistic adults get and keep jobs. Across Australia, Sweden, and the UnitedStates, focus groups and interviews were conducted to understand international perspectives on what helps and hinders getting and keeping a job for autistic individuals. The environment, including supports, relationships, attitudes, and services, were perceived to be the most important for workplace success. Intervention targeting barriers and facilitators in the workplace environment may support autistic adults to be successful in the labor market.
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17.
  • Black, Melissa H., et al. (författare)
  • Safe transport of children with disabilities and medical conditions : caregiver experiences
  • 2023
  • Ingår i: Scandinavian Journal of Occupational Therapy. - 1103-8128 .- 1651-2014. ; 30:8, s. 1383-1393
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Road vehicle transportation is essential to support community access and participation for all children. However, little is known about the transport patterns of children with disabilities and medical conditions and their caregivers’ experiences supporting them to be transported safely in road vehicles in Australia. Aim: To understand the transport needs of children with disabilities and medical conditions and the transport needs of their caregivers. Materials and Methods: A large-scale national survey was undertaken online to explore the experiences and perspectives of 193 caregivers, identifying the challenges and needs associated with providing and supporting safe road transportation for their children. Results: Caregivers believed their child was missing out on participating in everyday life due to their transportation needs, with caregivers experiencing multiple challenges and barriers to transporting their child safely. Conclusions and Significance: There is a need to provide knowledge and support to caregivers who are primarily responsible for the safe transportation of their children with disabilities and medical conditions.
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18.
  • Black, Melissa H., et al. (författare)
  • Safe Transportation of Children With Disabilities and Medical Conditions in Motor Vehicles : Experiences and Perspectives of Australian Health Professionals and Organisations
  • 2024
  • Ingår i: Journal of Road Safety. - 2652-4260. ; 35:1, s. 15-26
  • Tidskriftsartikel (refereegranskat)abstract
    • Providing safe and accessible transportation for children with disabilities and medical conditions can be challenging and complex, as they are particularly vulnerable during road vehicle transportation. Health professionals and organisations play a vital role in supporting families and other involved individuals to ensure their child is transported safely. To obtain a better understanding of the experiences and perspectives of health professionals and organisations involved in the safe transportation of children with disabilities and medical conditions, a large-scale national survey was undertaken in Australia. A total of 295 responses were obtained from 234 health professionals and 61 organisations. Responses were analysed to explore the experiences, difficulties, and demands related to supporting the provision of safe transportation for these children. Although these key stakeholders believed safe transportation to be an important right, health professionals faced many challenges and had low confidence in their abilities to address the barriers associated with it. The findings suggest that health professionals may benefit from additional training, support, and resources. Organisations need access to evidence-based information to address this transportation topic in their strategies and plans. Without adequate support for health professionals to improve their knowledge and capability in this area, and organisational commitment in their strategies and plans that include the transport needs of children with disabilities and medical conditions, these children and their families will remain at a disproportionate risk of injury and fatality on the roads.
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19.
  • Black, Melissa H., et al. (författare)
  • The use of wearable technology to measure and support abilities, disabilities and functional skills in autistic youth: a scoping review
  • 2020
  • Ingår i: Scandinavian Journal of Child and Adolescent Psychiatry and Psychology. - : EXELEY INC. - 2245-8875. ; 8, s. 48-69
  • Forskningsöversikt (refereegranskat)abstract
    • Background: Wearable technology (WT) to measure and support social and non-social functioning in Autism Spectrum Disorder (ASD) has been a growing interest of researchers over the past decade. There is however limited understanding of the WTs currently available for autistic individuals, and how they measure functioning in this population. Objective: This scoping review explored the use of WTs for measuring and supporting abilities, disabilities and functional skills in autistic youth. Method: Four electronic databases were searched to identify literature investigating the use of WT in autistic youth, resulting in a total of 33 studies being reviewed. Descriptive and content analysis was conducted, with studies subsequently mapped to the ASD International Classification of Functioning, Disability and Health Core-sets and the ICF Child and Youth Version (ICF-CY). Results: Studies were predominately pilot studies for novel devices. WTs measured a range of physiological and behavioural functions to objectively measure stereotypical motor movements, social function, communication, and emotion regulation in autistic youth in the context of a range of environments and activities. Conclusions: While this review raises promising prospects for the use of WTs for autistic youth, the current evidence is limited and requires further investigation.
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20.
  • Dreaver, Jessica, et al. (författare)
  • Success Factors Enabling Employment for Adults on the Autism Spectrum from Employers' Perspective
  • 2020
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 50:5, s. 1657-1667
  • Tidskriftsartikel (refereegranskat)abstract
    • Employment outcomes for individuals with autism spectrum disorder (ASD) are poor and there is limited understanding on how best to support individuals with ASD in the workplace. Stakeholders involved in the employment of adults with ASD, including employers and employment service providers have unique insights into the factors influencing employment for this population. Organisational and individual factors facilitating successful employment for adults with ASD across Australia and Sweden were explored, including the supports and strategies underpinning employment success from an employers' perspective. Three themes including Knowledge and Understanding of ASD, Work Environment and Job Match emerged, suggesting that a holistic approach was key to supporting success, with employer knowledge and understanding of ASD underpinning their ability to facilitate employment.
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21.
  • Graham, Bronwyn M., et al. (författare)
  • The association between estradiol levels, hormonal contraceptive use, an responsiveness to one-session-treatment for spider phobia in women
  • 2018
  • Ingår i: Psychoneuroendocrinology. - : Elsevier BV. - 0306-4530 .- 1873-3360. ; 90, s. 134-140
  • Tidskriftsartikel (refereegranskat)abstract
    • Preclinical studies have demonstrated that conditioned fear extinction is impaired in females with low endogenous levels of the sex hormone estradiol, due to menstrual fluctuations or hormonal contraceptive use. As fear extinction is a laboratory model of exposure therapy for anxiety and trauma disorders, here we assessed the hypothesis that treatment outcomes may be diminished when exposure therapy occurs during periods of low estradiol. 90 women with spider phobia (60 cycling and 30 using hormonal contraceptives) underwent a one session exposure treatment for spider phobia, following which, serum estradiol levels were assessed. A median split in estradiol level was used to divide cycling participants into two groups; lower and higher estradiol. Behavioral avoidance and self-reported fear of spiders were measured pre-treatment, post-treatment, and at a 12 week follow-up assessment. Women using hormonal contraceptives exhibited a significantly slower rate of improvement across treatment, greater behavioral avoidance at post-treatment and follow-up, and fewer self initiated post-treatment exposure tasks, relative to both groups of cycling women, who did not differ. No group differences in self-reported fear were evident. Correlational analyses revealed that across the whole sample, lower estradiol levels were associated with slower rates of improvement across treatment, and greater self reported fear and behavioral avoidance at post-treatment, but not follow-up. These results provide the first evidence of an association between endogenous estradiol, hormonal contraceptive use, and exposure therapy outcomes in spider phobic women. Hormonal profile may partly account for variability in responsiveness to psychological treatments for anxiety and trauma disorders in women.
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22.
  • Hughes, Brett P., et al. (författare)
  • The relevance of U.S. Strategic Highway Safety Plans in a future context
  • 2019
  • Ingår i: PLOS ONE. - San Francisco, CA, United States : Public Library of Science. - 1932-6203. ; 14:10
  • Tidskriftsartikel (refereegranskat)abstract
    • While road safety in the United States (U.S.) has been continually improving since the 1970's, there are indications that these improvements are becoming increasingly difficult to sustain. Strategic Highway Safety Plans (SHSPs) are prepared by States to guide road safety management, however assessing the appropriateness of these plans remains a significant challenge, especially for the future in which they are to be applied. This study developed a new methodology to assess SHSPs from the perspectives of comprehensive system-based safety management and relevant future issues that can be applied before SHSPs are implemented, thereby avoiding long periods after implementation before assessing the appropriateness of the plans. A rating scale was developed and applied to assess 48 U.S. SHSPs against two key criteria: 1. a comprehensive framework for road safety, and 2. the anticipated changing, difficult and unpredictable nature of future transport and its context. The analysis concluded that current SHSPs have good national oversight with several strengths but were weak in some areas of content and did not address future challenges. Improvements are suggested to strengthen the plans' thoroughness by being consistent with systems theory and practice, as well as ways that these SHSPs can be more resilient to future circumstances. Implementing the recommendations in this paper provides the opportunity to adopt a system-based safety management practice that has been successful in other hazardous industries. Doing so is expected to most efficiently and effectively continue the recent improvements to road safety, which is likely to be increasingly difficult otherwise.
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23.
  • Lee, Elinda A. L., et al. (författare)
  • “I’m Destined to Ace This” : Work experience placement during high school for individuals with Autism Spectrum Disorder
  • 2019
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 49:8, s. 3089-3101
  • Tidskriftsartikel (refereegranskat)abstract
    • As postsecondary outcomes of adolescents with Autism Spectrum Disorder (ASD) are poor, there is a need for programs that aim to improve employment and education outcomes. This study employed a grounded theory approach to explore the key factors contributing to successful work placement experience and the perceived benefits of these placements from the perspective of adolescents with ASD (n = 5), their parents (n = 6) and employers (n = 6). Key factors contributing to success include preparing for the workplace, harnessing strengths and interests and developing work related skills, while the benefits include insight into the workplace, recognising and realising potential, working as a team and the pathway ahead. The findings articulate a framework which could underpin future transition interventions for adolescents with ASD. 
  •  
24.
  • Lee, Elinda Ai Lim, et al. (författare)
  • Im Destined to Ace This
  • 2019
  • Ingår i: Journal of autism and developmental disorders. - : SPRINGER/PLENUM PUBLISHERS. - 0162-3257 .- 1573-3432. ; 49:8, s. 3089-3101
  • Tidskriftsartikel (refereegranskat)abstract
    • As postsecondary outcomes of adolescents with Autism Spectrum Disorder (ASD) are poor, there is a need for programs that aim to improve employment and education outcomes. This study employed a grounded theory approach to explore the key factors contributing to successful work placement experience and the perceived benefits of these placements from the perspective of adolescents with ASD (n=5), their parents (n=6) and employers (n=6). Key factors contributing to success include preparing for the workplace, harnessing strengths and interests and developing work related skills, while the benefits include insight into the workplace, recognising and realising potential, working as a team and the pathway ahead. The findings articulate a framework which could underpin future transition interventions for adolescents with ASD.
  •  
25.
  • Lee, Elinda Ai Lim, et al. (författare)
  • "We can see a bright future" : Parents' perceptions of the outcomes of participating in a strengths-based program for adolescents with Autism Spectrum Disorder
  • 2020
  • Ingår i: Journal of autism and developmental disorders. - : Springer. - 0162-3257 .- 1573-3432. ; 50, s. 3179-3194
  • Tidskriftsartikel (refereegranskat)abstract
    • Autistic individuals often possess strengths and abilities. Despite these strengths, employment outcomes for this population remain low. Strengths-based programs, focusing on developing skills in a supportive environment, may enable autistic adolescents to more effectively prepare for the workforce. This study explores the principal components and associated outcomes of a strengths-based program designed to support autistic children and adolescents to develop interests and skills in Science, Technology, Engineering, Arts, and Mathematics. The baseline results of 52 parents of autistic youth participating in a 3-year longitudinal survey study were explored, with results showing that according to parents the program positively impacted participants' sense of belonging, confidence and self-esteem, health and well-being, social relationships and interactions, and activities and participation.
  •  
26.
  • Mattinson, Shani, et al. (författare)
  • Participation profiles and the barriers and facilitators that impact on participation of children with Autism Spectrum Disorders living in regional and remote Western Australia
  • 2018
  • Ingår i: Scandinavian Journal of Child and Adolescent Psychiatry and Psychology. - : Exeley Inc.. - 2245-8875. ; 6:4, s. 170-182
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:Autism Spectrum Disorder (ASD) is a heterogeneous condition, influencing participation in activity and occupation. Approximately, 1% of Australian children have an ASD diagnosis, with many of these families living in remote and regional areas. Given the environments role in facilitating or hindering participation, there is a need to understand how geographical location impacts the participation profiles of children with ASD. Objective: This study aims to describe the participation profiles, and environmental barriers and facilitators to participation for children with ASD living in regional or remote Western Australia.Methods:A total of 32 families completed a questionnaire pack including a socio-demographic questionnaire and the Participation and Environment Measure – Children and Youth.Results:Children with ASD had reduced participation in community activities. Within the home, children most commonly participated in computer and video games, and in school settings, children participated rarely in non-classroom and extracurricular activities. Parents reported a desire for their children to decrease time spent engaging in video games and increase time spent in the community, socializing, engaging in extracurricular activities, and completing chores. Parents reported a number of barriers to participation across community, home, and school settings.Conclusion:Children with ASD living in regional areas had restricted participation profiles and a number of barriers to participation as reported by their parents. There is a need for additional support and services in non- metropolitan areas for families of children with ASD to increase participation. This study also highlights the need to expand the definition of participation in the International Classification of Functioning, Disability and Health to include aspects of involvement.
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27.
  • Milbourn, Ben, et al. (författare)
  • An exploration of the experience of parents with children with autism spectrum disorder after diagnosis and intervention
  • 2017
  • Ingår i: Scandinavian Journal of Child and Adolescent Psychiatry and Psychology. - : EXELEY INC. - 2245-8875. ; 5:3, s. 104-110
  • Tidskriftsartikel (refereegranskat)abstract
    • Delays and difficulties in both diagnosis and access to services can compound existing stressors experienced by families with children with autism spectrum disorder Early and accurate diagnosis and appropriate intervention may not only improve child-specific outcomes but may also mitigate some of the stressors impacting family relationships and quality of life. We aimed to understand the experience of over 500 families that had sought autism spectrum disorder diagnosis and intervention, their perceptions of the efficacy of these services, and the impact that this process had on their family life. Parents overwhelmingly described frustration with access to a timely diagnosis, specialized intervention services, and funding that impacted their family life and relationships. However, parents simultaneously reported positive perceptions of change as a consequence of diagnosis and effective intervention.
  •  
28.
  • Vaz, Sharmila, et al. (författare)
  • Co-occurring intellectual disability and autism : Associations with stress, coping, time use, and quality of life in caregivers
  • 2021
  • Ingår i: Research in Autism Spectrum Disorders. - : ELSEVIER SCI LTD. - 1750-9467 .- 1878-0237. ; 84
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Having a child on the autism spectrum (AS) is known to impact caregiver quality of life (QoL), time use, and stress. A co-occurring diagnosis of intellectual disability (ID) is common among children on the autism spectrum, with ID itself impacting caregiver outcomes. Method: This study sought to understand how co-occurring ID in children on the autism spectrum may influence caregiver-related outcomes. Secondary analysis of survey data from caregivers of 278 children on the autism spectrum with (n = 62) and without (n = 216) co-occurring ID was conducted, exploring impacts on caregiver QoL, stress, coping, and time-use. Results: Univariate analysis showed that caregivers of children on the autism spectrum with cooccurring ID reported greater levels of stress due to core symptoms and co-occurring physical conditions, and had different time use patterns then caregivers of children on the autism spectrum without co-occurring ID. Multivariate analysis, however, showed that caregivers of children on the autism spectrum with and without co-occurring ID differed only in the time they spent preparing meals, socialising with friends and accessing in-home respite care. Conclusions: The presence of co-occurring ID in children on the autism spectrum had limited impacts on caregiver-related outcomes. Families of children across the entire AS require adequate supports.
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