Author: "Trollor, J" - Searchworks@Jio Institute Digital Library Search Results

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356 results on '"Trollor, J"'

1. Intellectual disability healthcare in Australia: Progress, challenges, and future directions

Author: Brooker, K. S., primary, De Greef, R., additional, Trollor, J. N., additional, Franklin, C. S., additional, and Weise, J., additional
Published: 2024
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2. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).

Author: Davies, G, Armstrong, N, Bis, JC, Bressler, J, Chouraki, V, Giddaluru, S, Hofer, E, Ibrahim-Verbaas, CA, Kirin, M, Lahti, J, van der Lee, SJ, Le Hellard, S, Liu, T, Marioni, RE, Oldmeadow, C, Postmus, I, Smith, AV, Smith, JA, Thalamuthu, A, Thomson, R, Vitart, V, Wang, J, Yu, L, Zgaga, L, Zhao, W, Boxall, R, Harris, SE, Hill, WD, Liewald, DC, Luciano, M, Adams, H, Ames, D, Amin, N, Amouyel, P, Assareh, AA, Au, R, Becker, JT, Beiser, A, Berr, C, Bertram, L, Boerwinkle, E, Buckley, BM, Campbell, H, Corley, J, De Jager, PL, Dufouil, C, Eriksson, JG, Espeseth, T, Faul, JD, Ford, I, Generation Scotland, Gottesman, RF, Griswold, ME, Gudnason, V, Harris, TB, Heiss, G, Hofman, A, Holliday, EG, Huffman, J, Kardia, SLR, Kochan, N, Knopman, DS, Kwok, JB, Lambert, J-C, Lee, T, Li, G, Li, S-C, Loitfelder, M, Lopez, OL, Lundervold, AJ, Lundqvist, A, Mather, KA, Mirza, SS, Nyberg, L, Oostra, BA, Palotie, A, Papenberg, G, Pattie, A, Petrovic, K, Polasek, O, Psaty, BM, Redmond, P, Reppermund, S, Rotter, JI, Schmidt, H, Schuur, M, Schofield, PW, Scott, RJ, Steen, VM, Stott, DJ, van Swieten, JC, Taylor, KD, Trollor, J, Trompet, S, Uitterlinden, AG, Weinstein, G, Widen, E, Windham, BG, Jukema, JW, and Wright, AF
Subjects: Generation Scotland, Humans, Genetic Predisposition to Disease, HMGN1 Protein, Cohort Studies, Cognition, Cognition Disorders, Neuropsychological Tests, Phenotype, Polymorphism, Single Nucleotide, Aged, Aged, 80 and over, Middle Aged, Scotland, Female, Male, Atherosclerosis, Genome-Wide Association Study, and over, Polymorphism, Single Nucleotide, Psychiatry, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences
Abstract: General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N=53,949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P=3.93 × 10(-9), MIR2113; rs17522122, P=2.55 × 10(-8), AKAP6; rs10119, P=5.67 × 10(-9), APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P=1 × 10(-6)). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N=6617) and the Health and Retirement Study (N=5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e.=5%) and 28% (s.e.=7%), respectively. Using polygenic prediction analysis, ~1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N=5487; P=1.5 × 10(-17)). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.
Published: 2015

3. Cumulative Blood Pressure Load and Incident Dementia, Cognitive Function, and All-cause and Cardiovascular Deaths in Older Adults

Author: Xu, X., primary, Catts, V., additional, Harris, K., additional, Wang, N., additional, Numbers, K., additional, Trollor, J., additional, Brodaty, H., additional, Rodgers, A., additional, Sachdev, P., additional, and Schutte, A., additional
Published: 2023
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4. Factors associated with acute care service use after epilepsy hospitalisation in people with intellectual disability.

Author: Liao, P., Trollor, J., Reppermund, S., Cvejic, R. C., Srasuebkul, P., and Vajdic, C. M.
Subjects: *EPILEPSY & psychology, *CONFIDENCE intervals, *RETROSPECTIVE studies, *REGRESSION analysis, *PATIENT readmissions, *CONTINUUM of care, *CRITICAL care medicine, *HOSPITAL care, *RESEARCH funding, *INTELLECTUAL disabilities, *LONGITUDINAL method, *POISSON distribution
Abstract: Background: This study aimed to identify factors associated with unplanned acute hospital readmission and emergency department (ED) presentation after hospitalisation for epilepsy in people with intellectual disability (ID). Methods: This study is a retrospective cohort study using linked administrative datasets. We identified 3293 people with ID aged 5–64 years with a hospitalisation for epilepsy between 2005 and 2014 in New South Wales, Australia. We examined unplanned readmission and ED presentation within 30 or 365 days and associations with demographic, socio‐economic and health status variables. Modified Poisson regression with robust estimation was used to model outcomes within 30 days. Negative binomial regression was used to account for the overdispersion of the data and to model 365‐day outcome rates. Results: Around half of the cohort had an unplanned readmission and ED presentation within 365 days of the index hospitalisation. In fully adjusted models, being female, being a young adult and having a longer or acute care index admission, mental and physical comorbidities and a history of incarceration were associated with an elevated risk of readmission or ED presentation. The strongest association was observed between history of self‐harm and 365‐day readmission (incidence rate ratio 2.15, 95% confidence interval 1.41–3.29). Conclusions: Socio‐demographic, justice and health factors are associated with unplanned readmission and ED presentation risk after hospitalisation for epilepsy in people with ID. Interventions targeting improving continuity of care should be tailored for individuals and their support workers. The findings also emphasise the importance of person‐centred multidisciplinary care across different health sectors. [ABSTRACT FROM AUTHOR]
Published: 2023
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5. Genetic and Environmental Influences on Language Ability in Older Adults: Findings from the Older Australian Twins Study

Author: Lee, T., Thalamuthu, A., Henry, J. D., Trollor, J. N., Ames, D., Wright, M. J., Sachdev, P. S., and OATS Research Team
Published: 2018
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6. The Suicidal Ideation Attributes Scale-Modified (SIDAS-M): Development and preliminary validation of a new scale for the measurement of suicidal ideation in autistic adults

Author: Hedley, D, Batterham, PJ, Bury, SM, Clapperton, A, Denney, K, Dissanayake, C, Fox, P, Frazier, TW, Gallagher, E, Hayward, SM, Robinson, J, Sahin, E, Trollor, J, Uljarevic, M, Stokes, MA, Hedley, D, Batterham, PJ, Bury, SM, Clapperton, A, Denney, K, Dissanayake, C, Fox, P, Frazier, TW, Gallagher, E, Hayward, SM, Robinson, J, Sahin, E, Trollor, J, Uljarevic, M, and Stokes, MA
Abstract: Autistic people may be at higher risk of suicidal behavior than people in the general population. Suicidal behavior may include thinking about suicide or attempting to end one's own life by suicide. It is important to identify autistic people who may be thinking about suicide. People who are at risk of suicidal behavior can be identified by asking questions about whether they have been thinking about suicide. A specially designed questionnaire, or screening instrument, can help someone ask the best questions to find out if someone has been thinking about suicide. This information can help to identify supports to be put in place to prevent suicidal behavior, such as a suicide attempt. However, autistic people may interpret questions differently than non-autistic people. It is important to use screening tools that have been designed with, and for autistic people. In this study, we examined the Suicidal Ideation Attributes Scale (SIDAS). The SIDAS is an existing tool that was developed to screen for suicidal thinking in the general population. We modified SIDAS for use with autistic adults. We involved autistic people in the process of modifying SIDAS. We called the modified instrument the SIDAS-M. The results of our study showed SIDAS-M may be useful for screening for suicidal thinking in autistic adults who do not have an intellectual disability.
Published: 2023

7. Factors associated with acute care service use after epilepsy hospitalisation in people with intellectual disability

Author: Liao, P., primary, Trollor, J., additional, Reppermund, S., additional, Cvejic, R. C., additional, Srasuebkul, P., additional, and Vajdic, C. M., additional
Published: 2022
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8. Service Development for Intellectual Disability Mental Health: A Human Rights Approach

Author: Evans, E., Howlett, S., Kremser, T., Simpson, J., Kayess, R., and Trollor, J.
Abstract: Background: People with intellectual disability (ID) experience higher rates of major mental disorders than their non-ID peers, but in many countries have difficulty accessing appropriate mental health services. The aim of this paper is to review the current state of mental health services for people with ID using Australia as a case example, and critically appraise whether such services currently meet the standards set by the Convention on the Rights of Persons with Disabilities. Methods: The literature regarding the current state of mental health services for people with ID was reviewed, with a particular focus on Australia. Results: The review highlighted a number of issues to be addressed to meet the mental health needs of people with ID to ensure that their human rights are upheld like those of all other citizens. Many of the barriers to service provision encountered in Australia are likely also to be relevant to other nations, including the culture of division between disability and mental health services, the inadequate training of both disability and mental health workers in ID mental health, and the lack of relevant epidemiological data. None of these barriers are insurmountable. Conclusions: Recommendations are made for adopting a human rights-based approach towards the development and provision of mental health services for people with ID. These include improved policy with measurable outcomes, improved service access via clear referral pathways and the sharing of resources across disability and mental health services, and improved service delivery through training and education initiatives for both the mental health and disability workforce.
Published: 2012
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9. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning

Author: Lahti, J., Tuominen, S., Yang, Q., Pergola, G., Ahmad, S., Amin, N., Armstrong, N.J., Beiser, A., Bey, K., Bis, J.C., Boerwinkle, E., Bressler, J., Campbell, A., Campbell, H., Chen, Q., Corley, J., Cox, S.R., Davies, G., De Jager, P.L., Derks, E.M., Faul, J.D., Fitzpatrick, A.L., Fohner, A.E., Ford, I., Fornage, M., Gerring, Z., Grabe, H.J., Grodstein, F., Gudnason, V., Simonsick, E., Holliday, E.G., Joshi, P.K., Kajantie, E., Kaprio, J., Karell, P., Kleineidam, L., Knol, M.J., Kochan, N.A., Kwok, J.B., Leber, M., Lam, M., Lee, T., Li, S., Loukola, A., Luck, T., Marioni, R.E., Mather, K.A., Medland, S., Mirza, S.S., Nalls, M.A., Nho, K., O’Donnell, A., Oldmeadow, C., Painter, J., Pattie, A., Reppermund, S., Risacher, S.L., Rose, R.J., Sadashivaiah, V., Scholz, M., Satizabal, C.L., Schofield, P.W., Schraut, K.E., Scott, R.J., Simino, J., Smith, A.V., Smith, J.A., Stott, D.J., Surakka, I., Teumer, A., Thalamuthu, A., Trompet, S., Turner, S.T., van der Lee, S.J., Villringer, A., Völker, U., Wilson, R.S., Wittfeld, K., Vuoksimaa, E., Xia, R., Yaffe, K., Yu, L., Zare, H., Zhao, W., Ames, D., Attia, J., Bennett, D.A., Brodaty, H., Chasman, D.I., Goldman, A.L., Hayward, C., Ikram, M.A., Jukema, J.W., Kardia, S.L.R., Lencz, T., Loeffler, M., Mattay, V.S., Palotie, A., Psaty, B.M., Ramirez, A., Ridker, P.M., Riedel-Heller, S.G., Sachdev, P.S., Saykin, A.J., Scherer, M., Schofield, P.R., Sidney, S., Starr, J.M., Trollor, J., Ulrich, W., Wagner, M., Weir, D.R., Wilson, J.F., Wright, M.J., Weinberger, D.R., Debette, S., Eriksson, J.G., Mosley, T.H., Launer, L.J., van Duijn, C.M., Deary, I.J., Seshadri, S., Räikkönen, K., Lahti, J., Tuominen, S., Yang, Q., Pergola, G., Ahmad, S., Amin, N., Armstrong, N.J., Beiser, A., Bey, K., Bis, J.C., Boerwinkle, E., Bressler, J., Campbell, A., Campbell, H., Chen, Q., Corley, J., Cox, S.R., Davies, G., De Jager, P.L., Derks, E.M., Faul, J.D., Fitzpatrick, A.L., Fohner, A.E., Ford, I., Fornage, M., Gerring, Z., Grabe, H.J., Grodstein, F., Gudnason, V., Simonsick, E., Holliday, E.G., Joshi, P.K., Kajantie, E., Kaprio, J., Karell, P., Kleineidam, L., Knol, M.J., Kochan, N.A., Kwok, J.B., Leber, M., Lam, M., Lee, T., Li, S., Loukola, A., Luck, T., Marioni, R.E., Mather, K.A., Medland, S., Mirza, S.S., Nalls, M.A., Nho, K., O’Donnell, A., Oldmeadow, C., Painter, J., Pattie, A., Reppermund, S., Risacher, S.L., Rose, R.J., Sadashivaiah, V., Scholz, M., Satizabal, C.L., Schofield, P.W., Schraut, K.E., Scott, R.J., Simino, J., Smith, A.V., Smith, J.A., Stott, D.J., Surakka, I., Teumer, A., Thalamuthu, A., Trompet, S., Turner, S.T., van der Lee, S.J., Villringer, A., Völker, U., Wilson, R.S., Wittfeld, K., Vuoksimaa, E., Xia, R., Yaffe, K., Yu, L., Zare, H., Zhao, W., Ames, D., Attia, J., Bennett, D.A., Brodaty, H., Chasman, D.I., Goldman, A.L., Hayward, C., Ikram, M.A., Jukema, J.W., Kardia, S.L.R., Lencz, T., Loeffler, M., Mattay, V.S., Palotie, A., Psaty, B.M., Ramirez, A., Ridker, P.M., Riedel-Heller, S.G., Sachdev, P.S., Saykin, A.J., Scherer, M., Schofield, P.R., Sidney, S., Starr, J.M., Trollor, J., Ulrich, W., Wagner, M., Weir, D.R., Wilson, J.F., Wright, M.J., Weinberger, D.R., Debette, S., Eriksson, J.G., Mosley, T.H., Launer, L.J., van Duijn, C.M., Deary, I.J., Seshadri, S., and Räikkönen, K.
Abstract: Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes.
Published: 2022

10. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning

Author: Lahti, J, Tuominen, S, Yang, Q, Pergola, G, Ahmad, S, Amin, N, Armstrong, NJ, Beiser, A, Bey, K, Bis, JC, Boerwinkle, E, Bressler, J, Campbell, A, Campbell, H, Chen, Q, Corley, J, Cox, SR, Davies, G, De Jager, PL, Derks, EM, Faul, JD, Fitzpatrick, AL, Fohner, AE, Ford, I, Fornage, M, Gerring, Z, Grabe, HJ, Grodstein, F, Gudnason, V, Simonsick, E, Holliday, EG, Joshi, PK, Kajantie, E, Kaprio, J, Karell, P, Kleineidam, L, Knol, MJ, Kochan, NA, Kwok, JB, Leber, M, Lam, M, Lee, T, Li, S, Loukola, A, Luck, T, Marioni, RE, Mather, KA, Medland, S, Mirza, SS, Nalls, MA, Nho, K, O'Donnell, A, Oldmeadow, C, Painter, J, Pattie, A, Reppermund, S, Risacher, SL, Rose, RJ, Sadashivaiah, V, Scholz, M, Satizabal, CL, Schofield, PW, Schraut, KE, Scott, RJ, Simino, J, Smith, AV, Smith, JA, Stott, DJ, Surakka, I, Teumer, A, Thalamuthu, A, Trompet, S, Turner, ST, van der Lee, SJ, Villringer, A, Voelker, U, Wilson, RS, Wittfeld, K, Vuoksimaa, E, Xia, R, Yaffe, K, Yu, L, Zare, H, Zhao, W, Ames, D, Attia, J, Bennett, DA, Brodaty, H, Chasman, DI, Goldman, AL, Hayward, C, Ikram, MA, Jukema, JW, Kardia, SLR, Lencz, T, Loeffler, M, Mattay, VS, Palotie, A, Psaty, BM, Ramirez, A, Ridker, PM, Riedel-Heller, SG, Sachdev, PS, Saykin, AJ, Scherer, M, Schofield, PR, Sidney, S, Starr, JM, Trollor, J, Ulrich, W, Wagner, M, Weir, DR, Wilson, JF, Wright, MJ, Weinberger, DR, Debette, S, Eriksson, JG, Mosley, TH, Launer, LJ, van Duijn, CM, Deary, IJ, Seshadri, S, Raikkonen, K, Lahti, J, Tuominen, S, Yang, Q, Pergola, G, Ahmad, S, Amin, N, Armstrong, NJ, Beiser, A, Bey, K, Bis, JC, Boerwinkle, E, Bressler, J, Campbell, A, Campbell, H, Chen, Q, Corley, J, Cox, SR, Davies, G, De Jager, PL, Derks, EM, Faul, JD, Fitzpatrick, AL, Fohner, AE, Ford, I, Fornage, M, Gerring, Z, Grabe, HJ, Grodstein, F, Gudnason, V, Simonsick, E, Holliday, EG, Joshi, PK, Kajantie, E, Kaprio, J, Karell, P, Kleineidam, L, Knol, MJ, Kochan, NA, Kwok, JB, Leber, M, Lam, M, Lee, T, Li, S, Loukola, A, Luck, T, Marioni, RE, Mather, KA, Medland, S, Mirza, SS, Nalls, MA, Nho, K, O'Donnell, A, Oldmeadow, C, Painter, J, Pattie, A, Reppermund, S, Risacher, SL, Rose, RJ, Sadashivaiah, V, Scholz, M, Satizabal, CL, Schofield, PW, Schraut, KE, Scott, RJ, Simino, J, Smith, AV, Smith, JA, Stott, DJ, Surakka, I, Teumer, A, Thalamuthu, A, Trompet, S, Turner, ST, van der Lee, SJ, Villringer, A, Voelker, U, Wilson, RS, Wittfeld, K, Vuoksimaa, E, Xia, R, Yaffe, K, Yu, L, Zare, H, Zhao, W, Ames, D, Attia, J, Bennett, DA, Brodaty, H, Chasman, DI, Goldman, AL, Hayward, C, Ikram, MA, Jukema, JW, Kardia, SLR, Lencz, T, Loeffler, M, Mattay, VS, Palotie, A, Psaty, BM, Ramirez, A, Ridker, PM, Riedel-Heller, SG, Sachdev, PS, Saykin, AJ, Scherer, M, Schofield, PR, Sidney, S, Starr, JM, Trollor, J, Ulrich, W, Wagner, M, Weir, DR, Wilson, JF, Wright, MJ, Weinberger, DR, Debette, S, Eriksson, JG, Mosley, TH, Launer, LJ, van Duijn, CM, Deary, IJ, Seshadri, S, and Raikkonen, K
Abstract: Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes.
Published: 2022

11. Understanding the Neuropsychiatric Phenotype of Fragile X-Associated Tremor Ataxia Syndrome: a Systematic Review

Author: Birch, R. C., Cornish, K. M., Hocking, D. R., and Trollor, J. N.
Published: 2014
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12. The association between COVID-19, personal wellbeing, depression, and suicide risk factors in Australian autistic adults

Author: Hedley, Darren, Hayward, Susan, Denney, K, Uljarevic, Mirko, Bury, Simon, Sahin, Ensu, Brown, CM, Clapperton, A, Dissanayake, Cheryl, Robinson, J, Trollor, J, and Stokes, MA
Subjects: Uncategorized
Abstract: The COVID-19 pandemic has had a significant impact on the mental health and wellbeing of the world's population, with particularly negative effects on vulnerable populations, including autistic people. Although some consensus regarding specific impact on aspects of wellbeing and mental health in autism is starting to emerge, it is unclear whether the pandemic has increased suicide risk. The goals of this study were to examine (a) potential associations between COVID-19 impact and depression, personal wellbeing, and suicide risk factors in Australian autistic adults and (b) age and gender effects. The COVID-19 Impact Scale (CIS), Personal Wellbeing Index, Patient Health Questionnaire, and the Suicide Behavior Questionnaire, Revised (SBQ-R), were administered to 111 autistic adults aged 20 to 71 years during the second wave of the COVID-19 pandemic in Australia. COVID-19 impact showed small associations with poorer personal wellbeing (r = ��0.224, p = 0.023, [��0.409, ��0.016]) and higher depressive symptoms (r = 0.268, p = 0.006, [0.056, 0.445]) and was not associated with the SBQ-R suicide risk score (r = 0.081, p = 0.418, [��0.118, 0.264). No significant effects were identified for age. Although model results were similar for women and men, the strength of the associations between personal wellbeing and depression (z = ��2.16, p = 0.015), and depression and SBQ-R suicide risk (z = 1.961, p = 0.025), were stronger in women than in men. Qualitative analysis of an open response question from the CIS suggested that the pandemic had both positive and negative impacts on participants. The COVID-19 pandemic has had a large impact on the mental health and wellbeing of the world's population, particularly vulnerable populations such as autistic people. It is not known if these impacts on mental health and wellbeing have increased suicide risk. Our findings suggest that the impact of the COVID-19 pandemic may be associated with poorer wellbeing and higher depression, but is not associated with suicide risk. Overall, autistic people reported both positive and negative impacts of the pandemic on their lives.
Published: 2022
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13. Who provides primary health care for people with an intellectual disability: General practitioner and general practice characteristics from the BEACH dataset

Author: Weise, J, Pollack, A J, Britt, H, and Trollor, J N
Published: 2017

14. Reviewing causes of death of individuals with intellectual disability in New South Wales, Australia: a record‐linkage study

Author: Walker, A. R., primary, Trollor, J. N., additional, Reppermund, S., additional, and Srasuebkul, P., additional
Published: 2021
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15. Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males

Author: Birch, R. C., Hocking, D. R., Cornish, K. M., Menant, J. C., Georgiou-Karistianis, N., Godler, D. E., Wen, W., Hackett, A., Rogers, C., and Trollor, J. N.
Published: 2015
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16. Genome-wide association study of circulating interleukin 6 levels identifies novel loci

Author: Ahluwalia, T.S., Prins, B.P., Abdollahi, M., Armstrong, N.J., Aslibekyan, S., Bain, L., Jefferis, B., Baumert, J., Beekman, M., Ben-Shlomo, Y., Bis, J.C., Mitchell, B.D., Geus, E. de, Delgado, G.E., Marek, D., Eriksson, J., Kajantie, E., Kanoni, S., Kemp, J.P., Lu, C., Marioni, R.E., McLachlan, S., Milaneschi, Y., Nolte, I.M., Petrelis, A.M., Porcu, E., Sabater-Lleal, M., Naderi, E., Seppala, I., Shah, T., Singhal, G., Standl, M., Teumer, A., Thalamuthu, A., Thiering, E., Trompet, S., Ballantyne, C.M., Benjamin, E.J., Casas, J.P., Toben, C., Dedoussis, G., Deelen, J., Durda, P., Engmann, J., Feitosa, M.F., Grallert, H., Hammarstedt, A., Harris, S.E., Homuth, G., Hottenga, J.J., Jalkanen, S., Jamshidi, Y., Jawahar, M.C., Jess, T., Kivimaki, M., Kleber, M.E., Lahti, J., Liu, Y., Marques-Vidal, P., Mellstrom, D., Mooijaart, S.P., Muller-Nurasyid, M., Penninx, B., Revez, J.A., Rossing, P., Raikkonen, K., Sattar, N., Scharnagl, H., Sennblad, B., Silveira, A., St Pourcain, B., Timpson, N.J., Trollor, J., Dongen, J. van, Heemst, D. van, Visvikis-Siest, S., Vollenweider, P., Volker, U., Waldenberger, M., Willemsen, G., Zabaneh, D., Morris, R.W., Arnett, D.K., Baune, B.T., Boomsma, D.I., Chang, Y.P.C., Deary, I.J., Deloukas, P., Eriksson, J.G., Evans, D.M., Ferreira, M.A., Gaunt, T., Gudnason, V., Hamsten, A., Heinrich, J., Hingorani, A., Humphries, S.E., Jukema, J.W., Koenig, W., Kumari, M., Kutalik, Z., Lawlor, D.A., Lehtimaki, T., Marz, W., Mather, K.A., Naitza, S., Nauck, M., Ohlsson, C., Price, J.F., Raitakari, O., Rice, K., Sachdev, P.S., Slagboom, E., Sorensen, T.I.A., Spector, T., Stacey, D., Stathopoulou, M.G., Tanaka, T., Wannamethee, S.G., Whincup, P., Rotter, J.I., Dehghan, A., Boerwinkle, E., Psaty, B.M., Snieder, H., Alizadeh, B.Z., and CHARGE Inflammation Working Grp
Abstract: Interleukin 6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67428 (n(discovery)=52654 and n(replication)=14774) individuals of European ancestry. The inverse variance fixed effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on chromosome (Chr) 2q14, (P-combined=1.8x10(-11)), HLA-DRB1/DRB5 rs660895 on Chr6p21 (P-combined=1.5x10(-10)) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (P-combined=1.2x10(-122)). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.
Published: 2021

17. Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci

Author: Ahluwalia, TS, Prins, BP, Abdollahi, M, Armstrong, NJ, Aslibekyan, S, Bain, L, Jefferis, B, Baumert, J, Beekman, M, Ben-Shlomo, Y, Bis, JC, Mitchell, BD, de Geus, E, Delgado, GE, Marek, D, Eriksson, J, Kajantie, E, Kanoni, S, Kemp, JP, Lu, C, Marioni, RE, McLachlan, S, Milaneschi, Y, Nolte, IM, Petrelis, AM, Porcu, E, Sabater-Lleal, M, Naderi, E, Seppälä, I, Shah, T, Singhal, G, Standl, M, Teumer, A, Thalamuthu, A, Thiering, E, Trompet, S, Ballantyne, CM, Benjamin, EJ, Casas, JP, Toben, C, Dedoussis, G, Deelen, J, Durda, P, Engmann, J, Feitosa, MF, Grallert, H, Hammarstedt, A, Harris, SE, Homuth, G, Hottenga, J-J, Jalkanen, S, Jamshidi, Y, Jawahar, MC, Jess, T, Kivimaki, M, Kleber, ME, Lahti, J, Liu, Y, Marques-Vidal, P, Mellström, D, Mooijaart, SP, Müller-Nurasyid, M, Penninx, B, Revez, JA, Rossing, P, Räikkönen, K, Sattar, N, Scharnagl, H, Sennblad, B, Silveira, A, Pourcain, BS, Timpson, NJ, Trollor, J, CHARGE Inflammation Working Group, van Dongen, J, Van Heemst, D, Visvikis-Siest, S, Vollenweider, P, Völker, U, Waldenberger, M, Willemsen, G, Zabaneh, D, Morris, RW, Arnett, DK, Baune, BT, Boomsma, DI, Chang, Y-PC, Deary, IJ, Deloukas, P, Eriksson, JG, Evans, DM, Ferreira, MA, Gaunt, T, Gudnason, V, Hamsten, A, Heinrich, J, Hingorani, A, Humphries, SE, Jukema, JW, Koeing, W, Kumari, M, Kutalik, Z, Lawlor, DA, Lehtimäki, T, März, W, Mather, K, Naitza, S, Nauck, M, Ohlsson, C, Price, JF, Raitakari, O, Rice, K, Sachdev, PS, Slagboom, E, Sørensen, TIA, Spector, T, Stacey, D, Stathopoulou, MG, Tanaka, T, Wannamethee, SG, Whincup, P, Rotter, JI, Dehghan, A, Boerwinkle, E, Psaty, BM, Snieder, H, and Alizadeh, BZ
Abstract: Interleukin-6 (IL-6) is a multifunctional cytokine with both pro- and anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. We conducted a two-staged, discovery, and replication meta genome-wide association study (GWAS) of circulating serum IL-6 levels comprising up to 67 428 (ndiscovery = 52 654 and nreplication = 14 774) individuals of European ancestry. The inverse variance fixed-effects based discovery meta-analysis, followed by replication led to the identification of two independent loci, IL1F10/IL1RN rs6734238 on Chromosome (Chr) 2q14, (pcombined = 1.8 × 10-11), HLA-DRB1/DRB5 rs660895 on Chr6p21 (pcombined = 1.5 × 10-10) in the combined meta-analyses of all samples. We also replicated the IL6R rs4537545 locus on Chr1q21 (pcombined = 1.2 × 10-122). Our study identifies novel loci for circulating IL-6 levels uncovering new immunological and inflammatory pathways that may influence IL-6 pathobiology.
Published: 2021

18. Experiences of physical and sexual violence as reported by autistic adults without intellectual disability: Rate, gender patterns and clinical correlates

Author: Gibbs, V, Hudson, J, Hwang, YI, Arnold, S, Trollor, J, Pellicano, E, Gibbs, V, Hudson, J, Hwang, YI, Arnold, S, Trollor, J, and Pellicano, E
Abstract: Background: Research has repeatedly demonstrated that people with disabilities, particularly intellectual disabilities, experience violence at higher rates compared to people without disabilities. There have been fewer studies of violence amongst Autistic people with most focused on abuse and peer victimisation during childhood. Many of these studies include large numbers of children with intellectual disability making it difficult to infer whether autistic traits confer any increased risk for violence. Method: A cross-sectional survey design was employed to compare rates of reported childhood and recent physical and sexual violence, degree of traumatic impact, and tendency to confide in others amongst 245 Autistic adults without intellectual disability and 49 non-Autistic adults. We also examined whether autistic traits and emotion regulation were associated with experiences of reported violence. Results: A higher proportion of Autistic adults reported experiencing sexual and physical violence during childhood. There was no difference in recent violence or traumatic impact, however Autistic adults were more likely to report they had never confided in anyone about their experience/s. Autistic traits (but not emotion regulation difficulties) were a significant predictor of experiencing violence. Conclusions: The findings provide further evidence that Autistic people experience higher rates of physical and sexual violence and this cannot be attributed solely to the risk that is conferred by co-occurring intellectual disability. This information is important for policy makers and service providers so that steps can be taken to protect Autistic people from exposure to violence however further research is needed to better understand the extent and nature of violence experienced by Autistic people.
Published: 2021

19. Right to information for people with intellectual disability in Australian mental health policy

Author: Newman, B, Fisher, K, Trollor, J, Newman, B, Fisher, K, and Trollor, J
Published: 2021

20. Cortical thickness across the lifespan: Data from 17,075 healthy individuals aged 3–90 years

Author: Frangou, S. (Sophia), Modabbernia, A. (Amirhossein), Williams, S.C.R. (Steven C. R.), Papachristou, E. (Efstathios), Doucet, G.E. (Gaelle E.), Agartz, I. (Ingrid), Aghajani, M. (Moji), Akudjedu, T.N. (Theophilus N.), Albajes-Eizagirre, A. (Anton), Alnæs, D. (Dag), Alpert, K. (Kathryn), Andersson, M. (Micael), Andreasen, N.C. (Nancy C.), Andreassen, O.A. (Ole), Asherson, P. (Philip), Banaschewski, T. (Tobias), Bargallo, N. (Nuria), Baumeister, S. (Sarah), Baur-Streubel, R. (Ramona), Bertolino, A. (Alessandro), Bonvino, A. (Aurora), Boomsma, D.I. (Dorret I.), Borgwardt, S. (Stefan), Bourque, J. (Josiane), Brandeis, D. (Daniel), Breier, A. (Alan), Brodaty, H. (Henry), Brouwer, R.M. (Rachel), Buitelaar, J.K. (Jan K.), Busatto, G.F. (Geraldo F.), Buckner, M., Calhoun, V.D. (Vince), Canales-Rodríguez, E.J. (Erick J.), Cannon, D.M. (Dara M.), Caseras, X. (Xavier), Castellanos, F.X. (Francisco X.), Cervenka, S. (Simon), Chaim-Avancini, T.M. (Tiffany M.), Ching, C.R.K. (Christopher), Chubar, V. (Victoria), Clark, V.P. (Vincent P.), Conrod, P. (Patricia), Conzelmann, A. (Annette), Crespo-Facorro, B. (Benedicto), Crivello, F. (Fabrice), Crone, E.A. (Eveline), Dale, A.M. (Anders), Davey, C.G. (Christopher), Geus, E.J.C. (Eco) de, Haan, L. (Lieuwe) de, Zubicaray, G.I. (Greig) de, Braber, A. (Anouk) den, Dickie, E.W. (Erin W.), Di Giorgio, A. (Annabella), Doan, N.T. (Nhat Trung), Dørum, E.S. (Erlend S.), Ehrlich, S.M. (Stefan), Erk, S., Espeseth, T. (Thomas), Fatouros-Bergman, H. (Helena), Fisher, S.E. (Simon), Fouche, J.-P. (Jean-Paul), Franke, B. (Barbara), Frodl, T. (Thomas), Fuentes-Claramonte, P. (Paola), Glahn, D.C. (David), Gotlib, I.H. (Ian H.), Grabe, H.J. (Hans Jörgen), Grimm, O. (Oliver), Groenewold, N.A. (Nynke A.), Grotegerd, D. (Dominik), Gruber, O. (Oliver), Gruner, P. (Patricia), Gur, R.E. (Rachel E.), Gur, R.C. (Ruben C.), Harrison, B.J. (Ben J.), Hartman, C.A. (Catharine A.), Hatton, W., Heinz, A. (Andreas), Heslenfeld, D.J. (Dirk), Hibar, D.P. (Derrek P.), Hickie, I.B. (Ian), Ho, B.-C. (Beng-Choon), Hoekstra, P.J. (Pieter), Hohmann, S. (Sarah), Holmes, A.J. (Avram J.), Hoogman, M. (Martine), Hosten, N. (Norbert), Howells, F.M. (Fleur M.), Hulshoff Pol, H.E. (Hilleke E.), Huyser, J. (Jochanan), Jahanshad, N. (Neda), James, A., Jernigan, T.L. (Terry L.), Jiang, J. (Jiyang), Jönsson, E.G. (Erik G.), Joska, J.A. (John A.), Kahn, R. (Rene), Kalnin, A. (Andrew), Kanai, R. (Ryota), Klein, M. (Marieke), Klyushnik, T.P. (Tatyana P.), Koenders, L. (Laura), Koops, S. (Sanne), Krämer, B. (Bernd), Kuntsi, J. (Jonna), Lagopoulos, J. (Jim), Lázaro, L. (Luisa), Lebedeva, I. (Irina), Lee, W.H. (Won Hee), Lesch, K.-P. (Klaus-Peter), Lochner, C. (Christine), Machielsen, M.W.J. (Marise), Maingault, S. (Sophie), Martin, N.G. (Nicholas G.), Martínez-Zalacaín, I. (Ignacio), Mataix-Cols, D. (David), Mazoyer, B. (Bernard), McDonald, C. (Colm), McDonald, B.C. (Brenna C.), McIntosh, A.M. (Andrew), McMahon, K.L. (Katie L.), McPhilemy, G. (Genevieve), Menchón, J.M. (José M.), Medland, S.E. (Sarah), Meyer-Lindenberg, A. (Andreas), Naaijen, J. (Jilly), Najt, P. (Pablo), Nakao, T. (Tomohiro), Nordvik, J.E. (Jan E.), Nyberg, L. (Lisa), Oosterlaan, J. (Jaap), de la Foz, V.O.-G. (Víctor Ortiz-García), Paloyelis, Y. (Yannis), Pauli, P. (Paul), Pergola, G. (Giulio), Pomarol-Clotet, E. (Edith), Portella, M.J. (Maria J.), Potkin, S.G. (Steven G.), Radua, J. (Joaquim), Reif, A. (Andreas), Rinker, D.A. (Daniel A.), Roffman, J.L. (Joshua), Rosa, P.G.P. (Pedro G. P.), Sacchet, M.D. (Matthew D.), Sachdev, P.S. (Perminder), Salvador, R. (Raymond), Sánchez-Juan, P. (Pascual), Sarró, S. (Salvador), Satterthwaite, T.D. (Theodore), Saykin, A.J. (Andrew), Serpa, M.H. (Mauricio H.), Schmaal, L. (Lianne), Schnell, K. (Kerry), Schumann, G. (Gunter), Sim, K. (Kang), Smoller, J.W., Sommer, I. (Iris), Soriano-Mas, C. (Carles), Stein, D.J. (Dan J.), Strike, L.T. (Lachlan), Swagerman, S.C. (Suzanne C.), Tamnes, C.K. (Christian K.), Temmingh, H.S. (Henk S.), Thomopoulos, S.I. (Sophia I.), Tomyshev, A.S. (Alexander S.), Tordesillas-Gutierrez, D. (Diana), Trollor, J., Turner, J.A. (Jessica A.), Uhlmann, A. (Anne), Heuvel, O.A. (Odile A.), van den Meer, D. (Dennis), Wee, N.J. (Nic) van der, van Haren, N.E.M. (Neeltje E. M.), Ent, D. (Dennis) van 't, Erp, T.G.M. (Theo G.) van, Veer, I.M. (Ilya), Veltman, D.J. (Dick), Voineskos, A. (Aristotle), Völzke, H. (Henry), Walter, H. (Henrik), Walton, E. (Esther), Wang, L. (Lei), Wang, Y. (Yang), Wassink, A.M.J. (Annemarie), Weber, B. (Bernd), Wen, W. (Wei), West, J.D. (John D.), Westlye, L.T. (Lars), Whalley, H. (Heather), Wierenga, L.M. (Lara M.), Wittfeld, K. (Katharina), Wolf, D.H. (Daniel H.), Worker, A. (Amanda), Wright, M.J. (Margaret J.), Yang, K. (Kun), Yoncheva, Y. (Yulyia), Zanetti, M.V. (Marcus V.), Ziegler, G.C. (Georg C.), Thompson, P.M. (Paul), Dima, D. (Danai), Frangou, S. (Sophia), Modabbernia, A. (Amirhossein), Williams, S.C.R. (Steven C. R.), Papachristou, E. (Efstathios), Doucet, G.E. (Gaelle E.), Agartz, I. (Ingrid), Aghajani, M. (Moji), Akudjedu, T.N. (Theophilus N.), Albajes-Eizagirre, A. (Anton), Alnæs, D. (Dag), Alpert, K. (Kathryn), Andersson, M. (Micael), Andreasen, N.C. (Nancy C.), Andreassen, O.A. (Ole), Asherson, P. (Philip), Banaschewski, T. (Tobias), Bargallo, N. (Nuria), Baumeister, S. (Sarah), Baur-Streubel, R. (Ramona), Bertolino, A. (Alessandro), Bonvino, A. (Aurora), Boomsma, D.I. (Dorret I.), Borgwardt, S. (Stefan), Bourque, J. (Josiane), Brandeis, D. (Daniel), Breier, A. (Alan), Brodaty, H. (Henry), Brouwer, R.M. (Rachel), Buitelaar, J.K. (Jan K.), Busatto, G.F. (Geraldo F.), Buckner, M., Calhoun, V.D. (Vince), Canales-Rodríguez, E.J. (Erick J.), Cannon, D.M. (Dara M.), Caseras, X. (Xavier), Castellanos, F.X. (Francisco X.), Cervenka, S. (Simon), Chaim-Avancini, T.M. (Tiffany M.), Ching, C.R.K. (Christopher), Chubar, V. (Victoria), Clark, V.P. (Vincent P.), Conrod, P. (Patricia), Conzelmann, A. (Annette), Crespo-Facorro, B. (Benedicto), Crivello, F. (Fabrice), Crone, E.A. (Eveline), Dale, A.M. (Anders), Davey, C.G. (Christopher), Geus, E.J.C. (Eco) de, Haan, L. (Lieuwe) de, Zubicaray, G.I. (Greig) de, Braber, A. (Anouk) den, Dickie, E.W. (Erin W.), Di Giorgio, A. (Annabella), Doan, N.T. (Nhat Trung), Dørum, E.S. (Erlend S.), Ehrlich, S.M. (Stefan), Erk, S., Espeseth, T. (Thomas), Fatouros-Bergman, H. (Helena), Fisher, S.E. (Simon), Fouche, J.-P. (Jean-Paul), Franke, B. (Barbara), Frodl, T. (Thomas), Fuentes-Claramonte, P. (Paola), Glahn, D.C. (David), Gotlib, I.H. (Ian H.), Grabe, H.J. (Hans Jörgen), Grimm, O. (Oliver), Groenewold, N.A. (Nynke A.), Grotegerd, D. (Dominik), Gruber, O. (Oliver), Gruner, P. (Patricia), Gur, R.E. (Rachel E.), Gur, R.C. (Ruben C.), Harrison, B.J. (Ben J.), Hartman, C.A. (Catharine A.), Hatton, W., Heinz, A. (Andreas), Heslenfeld, D.J. (Dirk), Hibar, D.P. (Derrek P.), Hickie, I.B. (Ian), Ho, B.-C. (Beng-Choon), Hoekstra, P.J. (Pieter), Hohmann, S. (Sarah), Holmes, A.J. (Avram J.), Hoogman, M. (Martine), Hosten, N. (Norbert), Howells, F.M. (Fleur M.), Hulshoff Pol, H.E. (Hilleke E.), Huyser, J. (Jochanan), Jahanshad, N. (Neda), James, A., Jernigan, T.L. (Terry L.), Jiang, J. (Jiyang), Jönsson, E.G. (Erik G.), Joska, J.A. (John A.), Kahn, R. (Rene), Kalnin, A. (Andrew), Kanai, R. (Ryota), Klein, M. (Marieke), Klyushnik, T.P. (Tatyana P.), Koenders, L. (Laura), Koops, S. (Sanne), Krämer, B. (Bernd), Kuntsi, J. (Jonna), Lagopoulos, J. (Jim), Lázaro, L. (Luisa), Lebedeva, I. (Irina), Lee, W.H. (Won Hee), Lesch, K.-P. (Klaus-Peter), Lochner, C. (Christine), Machielsen, M.W.J. (Marise), Maingault, S. (Sophie), Martin, N.G. (Nicholas G.), Martínez-Zalacaín, I. (Ignacio), Mataix-Cols, D. (David), Mazoyer, B. (Bernard), McDonald, C. (Colm), McDonald, B.C. (Brenna C.), McIntosh, A.M. (Andrew), McMahon, K.L. (Katie L.), McPhilemy, G. (Genevieve), Menchón, J.M. (José M.), Medland, S.E. (Sarah), Meyer-Lindenberg, A. (Andreas), Naaijen, J. (Jilly), Najt, P. (Pablo), Nakao, T. (Tomohiro), Nordvik, J.E. (Jan E.), Nyberg, L. (Lisa), Oosterlaan, J. (Jaap), de la Foz, V.O.-G. (Víctor Ortiz-García), Paloyelis, Y. (Yannis), Pauli, P. (Paul), Pergola, G. (Giulio), Pomarol-Clotet, E. (Edith), Portella, M.J. (Maria J.), Potkin, S.G. (Steven G.), Radua, J. (Joaquim), Reif, A. (Andreas), Rinker, D.A. (Daniel A.), Roffman, J.L. (Joshua), Rosa, P.G.P. (Pedro G. P.), Sacchet, M.D. (Matthew D.), Sachdev, P.S. (Perminder), Salvador, R. (Raymond), Sánchez-Juan, P. (Pascual), Sarró, S. (Salvador), Satterthwaite, T.D. (Theodore), Saykin, A.J. (Andrew), Serpa, M.H. (Mauricio H.), Schmaal, L. (Lianne), Schnell, K. (Kerry), Schumann, G. (Gunter), Sim, K. (Kang), Smoller, J.W., Sommer, I. (Iris), Soriano-Mas, C. (Carles), Stein, D.J. (Dan J.), Strike, L.T. (Lachlan), Swagerman, S.C. (Suzanne C.), Tamnes, C.K. (Christian K.), Temmingh, H.S. (Henk S.), Thomopoulos, S.I. (Sophia I.), Tomyshev, A.S. (Alexander S.), Tordesillas-Gutierrez, D. (Diana), Trollor, J., Turner, J.A. (Jessica A.), Uhlmann, A. (Anne), Heuvel, O.A. (Odile A.), van den Meer, D. (Dennis), Wee, N.J. (Nic) van der, van Haren, N.E.M. (Neeltje E. M.), Ent, D. (Dennis) van 't, Erp, T.G.M. (Theo G.) van, Veer, I.M. (Ilya), Veltman, D.J. (Dick), Voineskos, A. (Aristotle), Völzke, H. (Henry), Walter, H. (Henrik), Walton, E. (Esther), Wang, L. (Lei), Wang, Y. (Yang), Wassink, A.M.J. (Annemarie), Weber, B. (Bernd), Wen, W. (Wei), West, J.D. (John D.), Westlye, L.T. (Lars), Whalley, H. (Heather), Wierenga, L.M. (Lara M.), Wittfeld, K. (Katharina), Wolf, D.H. (Daniel H.), Worker, A. (Amanda), Wright, M.J. (Margaret J.), Yang, K. (Kun), Yoncheva, Y. (Yulyia), Zanetti, M.V. (Marcus V.), Ziegler, G.C. (Georg C.), Thompson, P.M. (Paul), and Dima, D. (Danai)
Abstract: Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3–90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
Published: 2021
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21. The association between COVID-19, personal wellbeing, depression, and suicide risk factors in Australian autistic adults

Author: Hedley, D, Hayward, SM, Denney, K, Uljarević, M, Bury, S, Sahin, E, Brown, Claire, Clapperton, A, Dissanayake, C, Robinson, J, Trollor, J, Stokes, Mark, Hedley, D, Hayward, SM, Denney, K, Uljarević, M, Bury, S, Sahin, E, Brown, Claire, Clapperton, A, Dissanayake, C, Robinson, J, Trollor, J, and Stokes, Mark
Published: 2021

22. Right to Information for People with Intellectual Disability in Australian Mental Health Policy

Author: Newman, Bronwyn, Fisher, KR, Trollor, J, Newman, Bronwyn, Fisher, KR, and Trollor, J
Abstract: Journal of Policy and Practice in Intellectual Disabilities doi: 10.1111/jppi.12396Right to Information for People with IntellectualDisability in Australian Mental Health PolicyBronwyn Newman* , Karen R Fisher†, and Julian Trollor‡,§*Centre for Health Systems and Safety Research, Australian Institute of Health Innovation, Macquarie University, Sydney,New South Wales, Australia; †Social Policy Research Centre, UNSW Sydney, Sydney, New South Wales, Australia; ‡Department ofDevelopmental Disability Neuropsychiatry, School of Psychiatry, UNSW Sydney, New South Wales, Sydney, Australia; and § Centrefor Healthy Brain Ageing (CHeBA), UNSW Sydney, Sydney, AustraliaAbstractBackground: People with intellectual disability do not have adequate access to mental health services and have worse mental healthoutcomes than the broader community. Access to information about mental health, treatment, and services has been advocated asone strategy to address these inequities. This article presents findings from a policy analysis of how the right to accessible informa-tion is represented in Australian mental health policy, with a focus on information access for people with intellectual disability.Method: An analysis of Australian and New South Wales state policies relevant to mental health services 2007–2017, in currentuse and available online (49 documents) was conducted. Principles in the United Nations Convention on the Rights of Personswith Disability 2006 and an integrated health literacy framework were used to frame a content analysis. NVivo 11 (QSR 2015) wasused to search the policy documents and themes were identified according to the policy type and purpose.Findings: The right to information is expressed in Australian and New South Wales state policy documents. However, the mentalhealth policies do not refer to the communication needs of people with intellectual disability or incorporate strategies to addresstheir needs. Many of the me
Published: 2021

23. Development of the Suicide Ideation Attributes Scale-Modified (SIDAS-M) for autistic adults

Author: Hedley, D, Batterham, P, Gallagher, E, Denney, K, Hayward, S, Uljarević, M, Bury, S, Clapperton, A, Robinson, J, Trollor, J, Stokes, M, Hedley, D, Batterham, P, Gallagher, E, Denney, K, Hayward, S, Uljarević, M, Bury, S, Clapperton, A, Robinson, J, Trollor, J, and Stokes, M
Abstract: There are currently few instruments specifically designed or adapted to assess suicide risk in the autistic population. The Suicidal Ideation Attributes Scale (SIDAS) is a 5-item assessment of suicidal ideation that is commonly used and well-validated in suicide research. Unlike other instruments that primarily assess past suicidal behavior (e.g., Suicide Behaviors Questionnaire-Revised; SBQ-R), SIDAS focuses on recent (4-week) ideation making it useful for identifying current risk. SIDAS demonstrates a single factor, good internal consistency, and convergent validity. In addition to strong psychometric properties, its clear questions and straightforward design make it a strong candidate for suicide risk assessment in the autistic population. Therefore, we followed current gold-standard recommendations for measurement development and modification, as well as coproduction with autistic people, to derive and validate a modified version of the instrument (SIDAS-M) specifically adapted for use with autistic adults with a diverse range of abilities.
Published: 2021

24. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Author: Jia, T, Chu, C, Liu, Y, van Dongen, J, Papastergios, E, Armstrong, NJ, Bastin, ME, Carrillo-Roa, T, den Braber, A, Harris, M, Jansen, R, Liu, J, Luciano, M, Ori, APS, Santianez, RR, Ruggeri, B, Sarkisyan, D, Shin, J, Sungeun, K, Gutierrez, DT, van't Ent, D, Ames, D, Artiges, E, Bakalkin, G, Banaschewski, T, Bokde, ALW, Brodaty, H, Bromberg, U, Brouwer, R, Buchel, C, Quinlan, EB, Cahn, W, de Zubicaray, G, Ehrlich, S, Ekstrom, TJ, Flor, H, Frohner, JH, Frouin, V, Garavan, H, Gowland, P, Heinz, A, Hoare, J, Ittermann, B, Jahanshad, N, Jiang, J, Kwok, JB, Martin, NG, Martinot, J-L, Mather, KA, McMahon, KL, McRae, AF, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Samann, PG, Schofield, PR, Smolka, MN, Stein, DJ, Strike, LT, Teeuw, J, Thalamuthu, A, Trollor, J, Walter, H, Wardlaw, JM, Wen, W, Whelan, R, Apostolova, LG, Binder, EB, Boomsma, D, Calhoun, V, Crespo-Facorro, B, Deary, IJ, Pol, HH, Ophoff, RA, Pausova, Z, Sachdev, PS, Saykin, A, Wright, MJ, Thompson, PM, Schumann, G, Desrivieres, S, Jia, T, Chu, C, Liu, Y, van Dongen, J, Papastergios, E, Armstrong, NJ, Bastin, ME, Carrillo-Roa, T, den Braber, A, Harris, M, Jansen, R, Liu, J, Luciano, M, Ori, APS, Santianez, RR, Ruggeri, B, Sarkisyan, D, Shin, J, Sungeun, K, Gutierrez, DT, van't Ent, D, Ames, D, Artiges, E, Bakalkin, G, Banaschewski, T, Bokde, ALW, Brodaty, H, Bromberg, U, Brouwer, R, Buchel, C, Quinlan, EB, Cahn, W, de Zubicaray, G, Ehrlich, S, Ekstrom, TJ, Flor, H, Frohner, JH, Frouin, V, Garavan, H, Gowland, P, Heinz, A, Hoare, J, Ittermann, B, Jahanshad, N, Jiang, J, Kwok, JB, Martin, NG, Martinot, J-L, Mather, KA, McMahon, KL, McRae, AF, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Samann, PG, Schofield, PR, Smolka, MN, Stein, DJ, Strike, LT, Teeuw, J, Thalamuthu, A, Trollor, J, Walter, H, Wardlaw, JM, Wen, W, Whelan, R, Apostolova, LG, Binder, EB, Boomsma, D, Calhoun, V, Crespo-Facorro, B, Deary, IJ, Pol, HH, Ophoff, RA, Pausova, Z, Sachdev, PS, Saykin, A, Wright, MJ, Thompson, PM, Schumann, G, and Desrivieres, S
Abstract: DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)-three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.
Published: 2021

25. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Author: Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, Nicola, Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J.L., Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., Desrivières, S., Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, Nicola, Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J.L., Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., and Desrivières, S.
Abstract: DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)—three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.
Published: 2021

26. Relationships between serum vitamin D levels, neuromuscular and neuropsychological function and falls in older men and women

Author: Menant, J. C., Close, J. C. T., Delbaere, K., Sturnieks, D. L., Trollor, J., Sachdev, P. S., Brodaty, H., and Lord, S. R.
Published: 2012
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27. Cerebral small vessel disease genomics and its implications across the lifespan

Author: Sargurupremraj, M., Suzuki, H., Jian, X.Q., Sarnowski, C., Evans, T.E., Bis, J.C., Eiriksdottir, G., Sakaue, S., Terzikhan, N., Habes, M., Zhao, W., Armstrong, N.J., Hofer, E., Yanek, L.R., Hagenaars, S.P., Kumar, R.B., Akker, E.B. van den, McWhirter, R.E., Trompet, S., Mishra, A., Saba, Y., Satizabal, C.L., Beaudet, G., Petit, L., Tsuchida, A., Zago, L., Schilling, S., Sigurdsson, S., Gottesman, R.F., Lewis, C.E., Aggarwal, N.T., Lopez, O.L., Smith, J.A., Hernandez, M.C.V., Grond, J. van der, Wright, M.J., Knol, M.J., Dorr, M., Thomson, R.J., Bordes, C., Grand, Q. le, Duperron, M.G., Smith, A.V., Knopman, D.S., Schreiner, P.J., Evans, D.A., Rotter, J.I., Beiser, A.S., Maniega, S.M., Beekman, M., Trollor, J., Stott, D.J., Vernooij, M.W., Wittfeld, K., Niessen, W.J., Soumare, A., Boerwinkle, E., Sidney, S., Turner, S.T., Davies, G., Thalamuthu, A., Volker, U., Buchem, M.A. van, Bryan, R.N., Dupuis, J., Bastin, M.E., Ames, D., Teumer, A., Amouyel, P., Kwok, J.B., Bulow, R., Deary, I.J., Schofield, P.R., Brodaty, H., Jiang, J.Y., Tabara, Y., Setoh, K., Miyamoto, S., Yoshida, K., Nagata, M., Kamatani, Y., Matsuda, F., Psaty, B.M., Bennett, D.A., Jager, P.L. de, Mosley, T.H., Sachdev, P.S., Schmidt, R., Warren, H.R., Evangelou, E., Tregouet, D.A., Ikram, M.A., Wen, W., DeCarli, C., Srikanth, V.K., Jukema, J.W., Slagboom, E.P., Kardia, S.L.R., Okada, Y., Mazoyer, B., Wardlaw, J.M., Nyquist, P.A., Mather, K.A., Grabe, H.J., Schmidt, H., Duijn, C.M. van, Gudnason, V., Longstreth, W.T., Launer, L.J., Lathrop, M., Seshadri, S., Tzourio, C., Adams, H.H., Matthews, P.M., Fornage, M., Debette, S., Int Network Thrombosis INVENT Cons, and Int Headache Genomics Consortium I
Subjects: Adult, Male, Science, BLOOD-PRESSURE, Risk Assessment, behavioral disciplines and activities, GENETIC ARCHITECTURE, Young Adult, Alzheimer Disease, Risk Factors, mental disorders, WHITE-MATTER HYPERINTENSITIES, WIDE ASSOCIATION, Humans, International Headache Genomics Consortium (IHGC), CELL-TYPES, Medical History Taking, METAANALYSIS, AGING RESEARCH, Aged, RISK, Aged, 80 and over, Science & Technology, Mendelian Randomization Analysis, Middle Aged, COGNITIVE IMPAIRMENT, White Matter, Multidisciplinary Sciences, Stroke, Diffusion Tensor Imaging, Genetic Loci, Cerebral Small Vessel Diseases, Hypertension, MENDELIAN RANDOMIZATION, Science & Technology - Other Topics, Female, International Network against Thrombosis (INVENT) Consortium, Genome-Wide Association Study
Abstract: White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p=2.5x10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials. White matter hyperintensities (WMH) are a common brain-imaging feature of cerebral small vessel disease. Here, the authors carry out a GWAS and followup analyses for WMH-volume, implicating several variants with potential for risk stratification and drug targeting.
Published: 2020

28. Reforming mental health services for people with intellectual disability: the development of key priorities and a national guide for Australian mental health service providers

Author: Trollor, J. N., Ching, A., Lennox, N., and Simpson, J.
Published: 2014

29. Access to primary health care and problems managed for people with an intellectual disability: lessons from the BEACH dataset

Author: Trollor, J. N., Weise, J., Pollack, A., and Britt, H.
Published: 2014

30. Using privacy preserving data linkage to observe community mental health services delivered to people with an intellectual disability

Author: Florio, T., Howlett, S., Xu, H., and Trollor, J.
Published: 2014

31. IQ, the Flynn effect, mental illness and intellectual disability: a cognitive reserve hypothesis

Author: Florio, T. and Trollor, J. N.
Published: 2014

32. Symbolic sequence learning is associated with cognitive–affective profiles in female FMR1 premutation carriers

Author: Kraan, C. M., Hocking, D. R., Bradshaw, J. L., Georgiou-Karistianis, N., Metcalfe, S. A., Archibald, A. D., Fielding, J., Trollor, J., Cohen, J., and Cornish, K. M.
Published: 2014
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33. Using linked administrative data to determine the prevalence of intellectual disability in adult prison in New South Wales, Australia

Author: Trofimovs, J., primary, Dowse, L., additional, Srasuebkul, P., additional, and Trollor, J. N., additional
Published: 2021
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34. Prevalence of intellectual disability in New South Wales, Australia: a multi-year cross-sectional dataset by Local Government Area (LGA)

Author: Carnemolla P, Srasuebkul P, Robertson H, Trollor J, and Nicholas N
Abstract: © 2020 The Author(s) The presented dataset relates to a research project titled “My Home My Community” undertaken at University of Technology Sydney (UTS) which has been funded by the National Disability Insurance Agency (NDIA) Australia. The dataset reports estimated prevalence rates of Intellectual Disability in NSW by local government area (LGA) from 2010 – 2015. The dataset is a re-examination of a cohort of 92, 542 people with intellectual disability from a larger linked research dataset built by the Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW. The dataset in this paper is presented in a multi-year cross-sectional format. The cohort of people with Intellectual Disability was analysed to estimate, quantify and visualise where people with intellectual disability live in New South Wales (NSW). The cohort analysed in this dataset had been generated in an earlier project undertaken by the UNSW-based authors. This dataset was generated to share with local governments in Australia and has the potential to be more widely used in a range of health policy and planning research, and city and regional planning research environments. It represents one of the only datasets currently available in Australia on Intellectual Disability describing prevalence rates at a local government area level. This dataset allows for population comparisons in other Australian states and internationally and can be examined in combination with other social and economic datasets to continue to build evidence about disability, planning and geography.
Published: 2020

35. Cereb Cortex

Author: Shin, J., Ma, S., Hofer, E., Patel, Y., VOSBERG, D. E., TILLEY, S., ROSHCHUPKIN, G. V., SOUSA, A. M. M., JIAN, X., GOTTESMAN, R., MOSLEY, T. H., FORNAGE, M., SABA, Y., PIRPAMER, L., Schmidt, R., Schmidt, H., CARRION-CASTILLO, A., Crivello, F., Mazoyer, B., BIS, J. C., Li, S., Yang, Q., LUCIANO, M., Karama, S., Lewis, L., BASTIN, M. E., HARRIS, M. A., WARDLAW, J. M., DEARY, I. E., Scholz, M., Loeffler, M., WITTE, A. V., Beyer, F., VILLRINGER, A., ARMSTRONG, N. J., MATHER, K. A., Ames, D., Jiang, J., KWOK, J. B., SCHOFIELD, P. R., THALAMUTHU, A., TROLLOR, J. N., WRIGHT, M. J., BRODATY, H., Wen, W., SACHDEV, P. S., TERZIKHAN, N., EVANS, T. E., ADAMS, Hhhh, Ikram, M. A., FRENZEL, S., AUWERA-PALITSCHKA, S. V., WITTFELD, K., BULOW, R., Grabe, H. J., Tzourio, Christophe, Mishra, Aniket, MAINGAULT, S., Debette, Stéphanie, GILLESPIE, N. A., FRANZ, C. E., KREMEN, W. S., Ding, L., JAHANSHAD, N., Sestan, N., PAUSOVA, Z., SESHADRI, S., PAUS, T., Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: endocrine system, VINTAGE, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie
Abstract: We have carried out meta-analyses of genome-wide association studies (GWAS) (n = 23 784) of the first two principal components (PCs) that group together cortical regions with shared variance in their surface area. PC1 (global) captured variations of most regions, whereas PC2 (visual) was specific to the primary and secondary visual cortices. We identified a total of 18 (PC1) and 17 (PC2) independent loci, which were replicated in another 25 746 individuals. The loci of the global PC1 included those associated previously with intracranial volume and/or general cognitive function, such as MAPT and IGF2BP1. The loci of the visual PC2 included DAAM1, a key player in the planar-cell-polarity pathway. We then tested associations with occupational aptitudes and, as predicted, found that the global PC1 was associated with General Learning Ability, and the visual PC2 was associated with the Form Perception aptitude. These results suggest that interindividual variations in global and regional development of the human cerebral cortex (and its molecular architecture) cascade—albeit in a very limited manner—to behaviors as complex as the choice of one’s occupation.
Published: 2020

36. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Author: Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, C.L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A., Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., van der Lee, S.J., Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Veronica Witte, A., Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Bruce Pike, G., Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M.A., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., van Duijn, C.M., Grabe, H.J., Longstreth, W.T., Fornage, M., Paus, T., Debette, S., Arfan Ikram, M., Schmidt, H., Schmidt, R., Seshadri, S., Hofer, E., Roshchupkin, G.V., Adams, H.H.H., Knol, M.J., Lin, H., Li, S., Zare, H., Ahmad, S., Armstrong, N.J., Satizabal, C.L., Bernard, M., Bis, J.C., Gillespie, N.A., Luciano, M., Mishra, A., Scholz, M., Teumer, A., Xia, R., Jian, X., Mosley, T.H., Saba, Y., Pirpamer, L., Seiler, S., Becker, J.T., Carmichael, O., Rotter, J.I., Psaty, B.M., Lopez, O.L., Amin, N., van der Lee, S.J., Yang, Q., Himali, J.J., Maillard, P., Beiser, A.S., DeCarli, C., Karama, S., Lewis, L., Harris, M., Bastin, M.E., Deary, I.J., Veronica Witte, A., Beyer, F., Loeffler, M., Mather, K.A., Schofield, P.R., Thalamuthu, A., Kwok, J.B., Wright, M.J., Ames, D., Trollor, J., Jiang, J., Brodaty, H., Wen, W., Vernooij, M.W., Hofman, A., Uitterlinden, A.G., Niessen, W.J., Wittfeld, K., Bülow, R., Völker, U., Pausova, Z., Bruce Pike, G., Maingault, S., Crivello, F., Tzourio, C., Amouyel, P., Mazoyer, B., Neale, M.C., Franz, C.E., Lyons, M.J., Panizzon, M.S., Andreassen, O.A., Dale, A.M., Logue, M.A., Grasby, K.L., Jahanshad, N., Painter, J.N., Colodro-Conde, L., Bralten, J., Hibar, D.P., Lind, P.A., Pizzagalli, F., Stein, J.L., Thompson, P.M., Medland, S.E., Sachdev, P.S., Kremen, W.S., Wardlaw, J.M., Villringer, A., van Duijn, C.M., Grabe, H.J., Longstreth, W.T., Fornage, M., Paus, T., Debette, S., Arfan Ikram, M., Schmidt, H., Schmidt, R., and Seshadri, S.
Abstract: Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Published: 2020

37. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Author: Hofer, E, Roshchupkin, GV, Adams, HHH, Knol, MJ, Lin, H, Li, S, Zare, H, Ahmad, S, Armstrong, NJ, Satizabal, CL, Bernard, M, Bis, JC, Gillespie, NA, Luciano, M, Mishra, A, Scholz, M, Teumer, A, Xia, R, Jian, X, Mosley, TH, Saba, Y, Pirpamer, L, Seiler, S, Becker, JT, Carmichael, O, Rotter, JI, Psaty, BM, Lopez, OL, Amin, N, van der Lee, SJ, Yang, Q, Himali, JJ, Maillard, P, Beiser, AS, Decarli, C, Karama, S, Lewis, L, Harris, M, Bastin, ME, Deary, IJ, Witte, AV, Beyer, F, Loeffler, M, Mather, KA, Schofield, PR, Thalamuthu, A, Kwok, JB, Wright, MJ, Ames, D, Trollor, J, Jiang, J, Brodaty, H, Wen, W, Vernooij, MW, Hofman, A, Uitterlinden, AG, Niessen, WJ, Wittfeld, K, Bülow, R, Völker, U, Pausova, Z, Pike, GB, Maingault, S, Crivello, F, Tzourio, C, Amouyel, P, Mazoyer, B, Neale, MC, Franz, CE, Lyons, MJ, Panizzon, MS, Andreassen, OA, Dale, AM, Logue, M, Grasby, KL, Jahanshad, N, Painter, JN, Colodro-Conde, L, Bralten, J, Hibar, DP, Lind, PA, Pizzagalli, F, Stein, JL, Thompson, PM, Medland, SE, Sachdev, PS, Kremen, WS, Wardlaw, JM, Villringer, A, van Duijn, CM, Grabe, HJ, Longstreth, WT, Fornage, M, Paus, T, Debette, S, Ikram, MA, Schmidt, H, Schmidt, R, Seshadri, S, Ching, CRK, Hofer, E, Roshchupkin, GV, Adams, HHH, Knol, MJ, Lin, H, Li, S, Zare, H, Ahmad, S, Armstrong, NJ, Satizabal, CL, Bernard, M, Bis, JC, Gillespie, NA, Luciano, M, Mishra, A, Scholz, M, Teumer, A, Xia, R, Jian, X, Mosley, TH, Saba, Y, Pirpamer, L, Seiler, S, Becker, JT, Carmichael, O, Rotter, JI, Psaty, BM, Lopez, OL, Amin, N, van der Lee, SJ, Yang, Q, Himali, JJ, Maillard, P, Beiser, AS, Decarli, C, Karama, S, Lewis, L, Harris, M, Bastin, ME, Deary, IJ, Witte, AV, Beyer, F, Loeffler, M, Mather, KA, Schofield, PR, Thalamuthu, A, Kwok, JB, Wright, MJ, Ames, D, Trollor, J, Jiang, J, Brodaty, H, Wen, W, Vernooij, MW, Hofman, A, Uitterlinden, AG, Niessen, WJ, Wittfeld, K, Bülow, R, Völker, U, Pausova, Z, Pike, GB, Maingault, S, Crivello, F, Tzourio, C, Amouyel, P, Mazoyer, B, Neale, MC, Franz, CE, Lyons, MJ, Panizzon, MS, Andreassen, OA, Dale, AM, Logue, M, Grasby, KL, Jahanshad, N, Painter, JN, Colodro-Conde, L, Bralten, J, Hibar, DP, Lind, PA, Pizzagalli, F, Stein, JL, Thompson, PM, Medland, SE, Sachdev, PS, Kremen, WS, Wardlaw, JM, Villringer, A, van Duijn, CM, Grabe, HJ, Longstreth, WT, Fornage, M, Paus, T, Debette, S, Ikram, MA, Schmidt, H, Schmidt, R, Seshadri, S, and Ching, CRK
Abstract: Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Published: 2020

38. Estimating prevalence of subjective cognitive decline in and across international cohort studies of aging: a COSMIC study

Author: Röhr, S, Pabst, A, Riedel-Heller, SG, Jessen, F, Turana, Y, Handajani, YS, Brayne, C, Matthews, FE, Stephan, BCM, Lipton, RB, Katz, MJ, Wang, C, Guerchet, M, Preux, PM, Mbelesso, P, Ritchie, K, Ancelin, ML, Carrière, I, Guaita, A, Davin, A, Vaccaro, R, Kim, KW, Han, JW, Suh, SW, Shahar, S, Din, NC, Vanoh, D, van Boxtel, M, Köhler, S, Ganguli, M, Jacobsen, EP, Snitz, BE, Anstey, KJ, Cherbuin, N, Kumagai, S, Chen, S, Narazaki, K, Ng, TP, Gao, Q, Gwee, X, Brodaty, H, Kochan, NA, Trollor, J, Lobo, A, López-Antón, R, Santabárbara, J, Crawford, JD, Lipnicki, DM, Sachdev, PS, Röhr, S, Pabst, A, Riedel-Heller, SG, Jessen, F, Turana, Y, Handajani, YS, Brayne, C, Matthews, FE, Stephan, BCM, Lipton, RB, Katz, MJ, Wang, C, Guerchet, M, Preux, PM, Mbelesso, P, Ritchie, K, Ancelin, ML, Carrière, I, Guaita, A, Davin, A, Vaccaro, R, Kim, KW, Han, JW, Suh, SW, Shahar, S, Din, NC, Vanoh, D, van Boxtel, M, Köhler, S, Ganguli, M, Jacobsen, EP, Snitz, BE, Anstey, KJ, Cherbuin, N, Kumagai, S, Chen, S, Narazaki, K, Ng, TP, Gao, Q, Gwee, X, Brodaty, H, Kochan, NA, Trollor, J, Lobo, A, López-Antón, R, Santabárbara, J, Crawford, JD, Lipnicki, DM, and Sachdev, PS
Abstract: Background: Subjective cognitive decline (SCD) is recognized as a risk stage for Alzheimer’s disease (AD) and other dementias, but its prevalence is not well known. We aimed to use uniform criteria to better estimate SCD prevalence across international cohorts. Methods: We combined individual participant data for 16 cohorts from 15 countries (members of the COSMIC consortium) and used qualitative and quantitative (Item Response Theory/IRT) harmonization techniques to estimate SCD prevalence. Results: The sample comprised 39,387 cognitively unimpaired individuals above age 60. The prevalence of SCD across studies was around one quarter with both qualitative harmonization/QH (23.8%, 95%CI = 23.3–24.4%) and IRT (25.6%, 95%CI = 25.1–26.1%); however, prevalence estimates varied largely between studies (QH 6.1%, 95%CI = 5.1–7.0%, to 52.7%, 95%CI = 47.4–58.0%; IRT: 7.8%, 95%CI = 6.8–8.9%, to 52.7%, 95%CI = 47.4–58.0%). Across studies, SCD prevalence was higher in men than women, in lower levels of education, in Asian and Black African people compared to White people, in lower- and middle-income countries compared to high-income countries, and in studies conducted in later decades. Conclusions: SCD is frequent in old age. Having a quarter of older individuals with SCD warrants further investigation of its significance, as a risk stage for AD and other dementias, and of ways to help individuals with SCD who seek medical advice. Moreover, a standardized instrument to measure SCD is needed to overcome the measurement variability currently dominant in the field.
Published: 2020

39. Cerebral small vessel disease genomics and its implications across the lifespan

Author: Sargurupremraj, M, Suzuki, H, Jian, X, Sarnowski, C, Evans, TE, Bis, JC, Eiriksdottir, G, Sakaue, S, Terzikhan, N, Habes, M, Zhao, W, Armstrong, NJ, Hofer, E, Yanek, LR, Hagenaars, SP, Kumar, RB, van den Akker, EB, McWhirter, RE, Trompet, S, Mishra, A, Saba, Y, Satizabal, CL, Beaudet, G, Petit, L, Tsuchida, A, Zago, L, Schilling, S, Sigurdsson, S, Gottesman, RF, Lewis, CE, Aggarwal, NT, Lopez, OL, Smith, JA, Valdés Hernández, MC, van der Grond, J, Wright, MJ, Knol, MJ, Dörr, M, Thomson, RJ, Bordes, C, Le Grand, Q, Duperron, MG, Smith, AV, Knopman, DS, Schreiner, PJ, Evans, DA, Rotter, JI, Beiser, AS, Maniega, SM, Beekman, M, Trollor, J, Stott, DJ, Vernooij, MW, Wittfeld, K, Niessen, WJ, Soumaré, A, Boerwinkle, E, Sidney, S, Turner, ST, Davies, G, Thalamuthu, A, Völker, U, van Buchem, MA, Bryan, RN, Dupuis, J, Bastin, ME, Ames, D, Teumer, A, Amouyel, P, Kwok, JB, Bülow, R, Deary, IJ, Schofield, PR, Brodaty, H, Jiang, J, Tabara, Y, Setoh, K, Miyamoto, S, Yoshida, K, Nagata, M, Kamatani, Y, Matsuda, F, Psaty, BM, Bennett, DA, De Jager, PL, Mosley, TH, Sachdev, PS, Schmidt, R, Warren, HR, Evangelou, E, Trégouët, DA, de Andrade, M, Basu, S, Berr, C, Brody, JA, Chasman, DI, Dartigues, JF, Folsom, AR, Germain, M, Sargurupremraj, M, Suzuki, H, Jian, X, Sarnowski, C, Evans, TE, Bis, JC, Eiriksdottir, G, Sakaue, S, Terzikhan, N, Habes, M, Zhao, W, Armstrong, NJ, Hofer, E, Yanek, LR, Hagenaars, SP, Kumar, RB, van den Akker, EB, McWhirter, RE, Trompet, S, Mishra, A, Saba, Y, Satizabal, CL, Beaudet, G, Petit, L, Tsuchida, A, Zago, L, Schilling, S, Sigurdsson, S, Gottesman, RF, Lewis, CE, Aggarwal, NT, Lopez, OL, Smith, JA, Valdés Hernández, MC, van der Grond, J, Wright, MJ, Knol, MJ, Dörr, M, Thomson, RJ, Bordes, C, Le Grand, Q, Duperron, MG, Smith, AV, Knopman, DS, Schreiner, PJ, Evans, DA, Rotter, JI, Beiser, AS, Maniega, SM, Beekman, M, Trollor, J, Stott, DJ, Vernooij, MW, Wittfeld, K, Niessen, WJ, Soumaré, A, Boerwinkle, E, Sidney, S, Turner, ST, Davies, G, Thalamuthu, A, Völker, U, van Buchem, MA, Bryan, RN, Dupuis, J, Bastin, ME, Ames, D, Teumer, A, Amouyel, P, Kwok, JB, Bülow, R, Deary, IJ, Schofield, PR, Brodaty, H, Jiang, J, Tabara, Y, Setoh, K, Miyamoto, S, Yoshida, K, Nagata, M, Kamatani, Y, Matsuda, F, Psaty, BM, Bennett, DA, De Jager, PL, Mosley, TH, Sachdev, PS, Schmidt, R, Warren, HR, Evangelou, E, Trégouët, DA, de Andrade, M, Basu, S, Berr, C, Brody, JA, Chasman, DI, Dartigues, JF, Folsom, AR, and Germain, M
Abstract: White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.
Published: 2020

40. Subcortical volumes across the lifespan: Data from 18,605 healthy individuals aged 3–90 years

Author: Dima, D. (Danai), Modabbernia, A. (Amirhossein), Papachristou, E. (Efstathios), Doucet, G.E. (Gaelle E.), Agartz, I. (Ingrid), Aghajani, M. (Moji), Akudjedu, T.N. (Theophilus N.), Albajes-Eizagirre, A. (Anton), Alnæs, D. (Dag), Alpert, K. (Kathryn), Andersson, M. (Micael), Andreasen, N.C. (Nancy C.), Andreassen, O.A. (Ole), Asherson, P. (Philip), Banaschewski, T. (Tobias), Bargallo, N. (Nuria), Baumeister, S. (Sarah), Baur-Streubel, R. (Ramona), Bertolino, A. (Alessandro), Bonvino, A. (Aurora), Boomsma, D.I. (Dorret I.), Borgwardt, S. (Stefan), Bourque, J. (Josiane), Brandeis, D. (Daniel), Breier, A. (Alan), Brodaty, H. (Henry), Brouwer, R.M. (Rachel), Buitelaar, J.K. (Jan K.), Busatto, G.F. (Geraldo F.), Buckner, M., Calhoun, V.D. (Vince), Canales-Rodríguez, E.J. (Erick J.), Cannon, D.M. (Dara M.), Caseras, X. (Xavier), Castellanos, F.X. (Francisco X.), Cervenka, S. (Simon), Chaim-Avancini, T.M. (Tiffany M.), Ching, C.R.K. (Christopher), Chubar, V. (Victoria), Clark, V.P. (Vincent P.), Conrod, P. (Patricia), Conzelmann, A. (Annette), Crespo-Facorro, B. (Benedicto), Crivello, F. (Fabrice), Crone, E.A. (Eveline), Dale, A.M. (Anders), Davey, C.G. (Christopher), Geus, E.J.C. (Eco) de, Haan, L. (Lieuwe) de, Zubicaray, G.I. (Greig) de, Braber, A. (Anouk) den, Dickie, E.W. (Erin W.), Di Giorgio, A. (Annabella), Doan, N.T. (Nhat Trung), Dørum, E.S. (Erlend S.), Ehrlich, S.M. (Stefan), Erk, S., Espeseth, T. (Thomas), Fatouros-Bergman, H. (Helena), Fisher, S.E. (Simon), Fouche, J.-P. (Jean-Paul), Franke, B. (Barbara), Frodl, T. (Thomas), Fuentes-Claramonte, P. (Paola), Glahn, D.C. (David), Gotlib, I.H. (Ian H.), Grabe, H.J. (Hans Jörgen), Grimm, O. (Oliver), Groenewold, N.A. (Nynke A.), Grotegerd, D. (Dominik), Gruber, O. (Oliver), Gruner, P. (Patricia), Gur, R.E. (Rachel E.), Gur, R.C. (Ruben C.), Harrison, B.J. (Ben J.), Hartman, C.A. (Catharine A.), Hatton, W., Heinz, A. (Andreas), Heslenfeld, D.J. (Dirk), Hibar, D.P. (Derrek P.), Hickie, I.B. (Ian), Ho, B.-C. (Beng-Choon), Hoekstra, P.J. (Pieter), Hohmann, S. (Sarah), Holmes, A.J. (Avram J.), Hoogman, M. (Martine), Hosten, N. (Norbert), Howells, F.M. (Fleur M.), Hulshoff Pol, H.E. (Hilleke E.), Huyser, J. (Jochanan), Jahanshad, N. (Neda), James, A., Jernigan, T.L. (Terry L.), Jiang, J. (Jiyang), Jönsson, E.G. (Erik G.), Joska, J.A. (John A.), Kahn, R. (Rene), Kalnin, A. (Andrew), Kanai, R. (Ryota), Klein, M. (Marieke), Klyushnik, T.P. (Tatyana P.), Koenders, L. (Laura), Koops, S. (Sanne), Krämer, B. (Bernd), Kuntsi, J. (Jonna), Lagopoulos, J. (Jim), Lázaro, L. (Luisa), Lebedeva, I. (Irina), Lee, W.H. (Won Hee), Lesch, K.-P. (Klaus-Peter), Lochner, C. (Christine), Machielsen, M.W.J. (Marise), Maingault, S. (Sophie), Martin, N.G. (Nicholas G.), Martínez-Zalacaín, I. (Ignacio), Mataix-Cols, D. (David), Mazoyer, B. (Bernard), McDonald, C. (Colm), McDonald, B.C. (Brenna C.), McIntosh, A.M. (Andrew), McMahon, K.L. (Katie L.), McPhilemy, G. (Genevieve), Menchón, J.M. (José M.), Medland, S.E. (Sarah), Meyer-Lindenberg, A. (Andreas), Naaijen, J. (Jilly), Najt, P. (Pablo), Nakao, T. (Tomohiro), Nordvik, J.E. (Jan E.), Nyberg, L., Oosterlaan, J. (Jaap), de la Foz, V.O.-G. (Víctor Ortiz-García), Paloyelis, Y. (Yannis), Pauli, P. (Paul), Pergola, G. (Giulio), Pomarol-Clotet, E. (Edith), Portella, M.J. (Maria J.), Potkin, S.G. (Steven G.), Radua, J. (Joaquim), Reif, A. (Andreas), Rinker, D.A. (Daniel A.), Roffman, J.L. (Joshua), Rosa, P.G.P. (Pedro G. P.), Sacchet, M.D. (Matthew D.), Sachdev, P.S. (Perminder), Salvador, R. (Raymond), Sánchez-Juan, P. (Pascual), Sarró, S. (Salvador), Satterthwaite, T.D. (Theodore), Saykin, A.J. (Andrew), Serpa, M.H. (Mauricio H.), Schmaal, L. (Lianne), Schnell, K. (Kerry), Schumann, G. (Gunter), Sim, K. (Kang), Smoller, J.W., Sommer, I. (Iris), Soriano-Mas, C. (Carles), Stein, D.J. (Dan J.), Strike, L.T. (Lachlan), Swagerman, S.C. (Suzanne C.), Tamnes, C.K. (Christian K.), Temmingh, H.S. (Henk S.), Thomopoulos, S.I. (Sophia I.), Tomyshev, A.S. (Alexander S.), Tordesillas-Gutierrez, D. (Diana), Trollor, J., Turner, J.A. (Jessica A.), Uhlmann, A. (Anne), Heuvel, O.A. (Odile A.), van den Meer, D. (Dennis), Wee, N.J. (Nic) van der, van Haren, N.E.M. (Neeltje E. M.), van't Ent, D. (Dennis), Erp, T.G.M. (Theo G.) van, Veer, I.M. (Ilya), Veltman, D.J. (Dick), Voineskos, A. (Aristotle), Völzke, H. (Henry), Walter, H. (Henrik), Walton, E. (Esther), Wang, L. (Lei), Wang, Y. (Yang), Wassink, A.M.J. (Annemarie), Weber, B. (Bernd), Wen, W. (Wei), West, J.D. (John D.), Westlye, L.T. (Lars), Whalley, H. (Heather), Wierenga, L.M. (Lara M.), Williams, S.C.R. (Steven C. R.), Wittfeld, K. (Katharina), Wolf, D.H. (Daniel H.), Worker, A. (Amanda), Wright, M.J. (Margaret J.), Yang, K. (Kun), Yoncheva, Y. (Yulyia), Zanetti, M.V. (Marcus V.), Ziegler, G.C. (Georg C.), Thompson, P.M. (Paul), Frangou, S. (Sophia), Dima, D. (Danai), Modabbernia, A. (Amirhossein), Papachristou, E. (Efstathios), Doucet, G.E. (Gaelle E.), Agartz, I. (Ingrid), Aghajani, M. (Moji), Akudjedu, T.N. (Theophilus N.), Albajes-Eizagirre, A. (Anton), Alnæs, D. (Dag), Alpert, K. (Kathryn), Andersson, M. (Micael), Andreasen, N.C. (Nancy C.), Andreassen, O.A. (Ole), Asherson, P. (Philip), Banaschewski, T. (Tobias), Bargallo, N. (Nuria), Baumeister, S. (Sarah), Baur-Streubel, R. (Ramona), Bertolino, A. (Alessandro), Bonvino, A. (Aurora), Boomsma, D.I. (Dorret I.), Borgwardt, S. (Stefan), Bourque, J. (Josiane), Brandeis, D. (Daniel), Breier, A. (Alan), Brodaty, H. (Henry), Brouwer, R.M. (Rachel), Buitelaar, J.K. (Jan K.), Busatto, G.F. (Geraldo F.), Buckner, M., Calhoun, V.D. (Vince), Canales-Rodríguez, E.J. (Erick J.), Cannon, D.M. (Dara M.), Caseras, X. (Xavier), Castellanos, F.X. (Francisco X.), Cervenka, S. (Simon), Chaim-Avancini, T.M. (Tiffany M.), Ching, C.R.K. (Christopher), Chubar, V. (Victoria), Clark, V.P. (Vincent P.), Conrod, P. (Patricia), Conzelmann, A. (Annette), Crespo-Facorro, B. (Benedicto), Crivello, F. (Fabrice), Crone, E.A. (Eveline), Dale, A.M. (Anders), Davey, C.G. (Christopher), Geus, E.J.C. (Eco) de, Haan, L. (Lieuwe) de, Zubicaray, G.I. (Greig) de, Braber, A. (Anouk) den, Dickie, E.W. (Erin W.), Di Giorgio, A. (Annabella), Doan, N.T. (Nhat Trung), Dørum, E.S. (Erlend S.), Ehrlich, S.M. (Stefan), Erk, S., Espeseth, T. (Thomas), Fatouros-Bergman, H. (Helena), Fisher, S.E. (Simon), Fouche, J.-P. (Jean-Paul), Franke, B. (Barbara), Frodl, T. (Thomas), Fuentes-Claramonte, P. (Paola), Glahn, D.C. (David), Gotlib, I.H. (Ian H.), Grabe, H.J. (Hans Jörgen), Grimm, O. (Oliver), Groenewold, N.A. (Nynke A.), Grotegerd, D. (Dominik), Gruber, O. (Oliver), Gruner, P. (Patricia), Gur, R.E. (Rachel E.), Gur, R.C. (Ruben C.), Harrison, B.J. (Ben J.), Hartman, C.A. (Catharine A.), Hatton, W., Heinz, A. (Andreas), Heslenfeld, D.J. (Dirk), Hibar, D.P. (Derrek P.), Hickie, I.B. (Ian), Ho, B.-C. (Beng-Choon), Hoekstra, P.J. (Pieter), Hohmann, S. (Sarah), Holmes, A.J. (Avram J.), Hoogman, M. (Martine), Hosten, N. (Norbert), Howells, F.M. (Fleur M.), Hulshoff Pol, H.E. (Hilleke E.), Huyser, J. (Jochanan), Jahanshad, N. (Neda), James, A., Jernigan, T.L. (Terry L.), Jiang, J. (Jiyang), Jönsson, E.G. (Erik G.), Joska, J.A. (John A.), Kahn, R. (Rene), Kalnin, A. (Andrew), Kanai, R. (Ryota), Klein, M. (Marieke), Klyushnik, T.P. (Tatyana P.), Koenders, L. (Laura), Koops, S. (Sanne), Krämer, B. (Bernd), Kuntsi, J. (Jonna), Lagopoulos, J. (Jim), Lázaro, L. (Luisa), Lebedeva, I. (Irina), Lee, W.H. (Won Hee), Lesch, K.-P. (Klaus-Peter), Lochner, C. (Christine), Machielsen, M.W.J. (Marise), Maingault, S. (Sophie), Martin, N.G. (Nicholas G.), Martínez-Zalacaín, I. (Ignacio), Mataix-Cols, D. (David), Mazoyer, B. (Bernard), McDonald, C. (Colm), McDonald, B.C. (Brenna C.), McIntosh, A.M. (Andrew), McMahon, K.L. (Katie L.), McPhilemy, G. (Genevieve), Menchón, J.M. (José M.), Medland, S.E. (Sarah), Meyer-Lindenberg, A. (Andreas), Naaijen, J. (Jilly), Najt, P. (Pablo), Nakao, T. (Tomohiro), Nordvik, J.E. (Jan E.), Nyberg, L., Oosterlaan, J. (Jaap), de la Foz, V.O.-G. (Víctor Ortiz-García), Paloyelis, Y. (Yannis), Pauli, P. (Paul), Pergola, G. (Giulio), Pomarol-Clotet, E. (Edith), Portella, M.J. (Maria J.), Potkin, S.G. (Steven G.), Radua, J. (Joaquim), Reif, A. (Andreas), Rinker, D.A. (Daniel A.), Roffman, J.L. (Joshua), Rosa, P.G.P. (Pedro G. P.), Sacchet, M.D. (Matthew D.), Sachdev, P.S. (Perminder), Salvador, R. (Raymond), Sánchez-Juan, P. (Pascual), Sarró, S. (Salvador), Satterthwaite, T.D. (Theodore), Saykin, A.J. (Andrew), Serpa, M.H. (Mauricio H.), Schmaal, L. (Lianne), Schnell, K. (Kerry), Schumann, G. (Gunter), Sim, K. (Kang), Smoller, J.W., Sommer, I. (Iris), Soriano-Mas, C. (Carles), Stein, D.J. (Dan J.), Strike, L.T. (Lachlan), Swagerman, S.C. (Suzanne C.), Tamnes, C.K. (Christian K.), Temmingh, H.S. (Henk S.), Thomopoulos, S.I. (Sophia I.), Tomyshev, A.S. (Alexander S.), Tordesillas-Gutierrez, D. (Diana), Trollor, J., Turner, J.A. (Jessica A.), Uhlmann, A. (Anne), Heuvel, O.A. (Odile A.), van den Meer, D. (Dennis), Wee, N.J. (Nic) van der, van Haren, N.E.M. (Neeltje E. M.), van't Ent, D. (Dennis), Erp, T.G.M. (Theo G.) van, Veer, I.M. (Ilya), Veltman, D.J. (Dick), Voineskos, A. (Aristotle), Völzke, H. (Henry), Walter, H. (Henrik), Walton, E. (Esther), Wang, L. (Lei), Wang, Y. (Yang), Wassink, A.M.J. (Annemarie), Weber, B. (Bernd), Wen, W. (Wei), West, J.D. (John D.), Westlye, L.T. (Lars), Whalley, H. (Heather), Wierenga, L.M. (Lara M.), Williams, S.C.R. (Steven C. R.), Wittfeld, K. (Katharina), Wolf, D.H. (Daniel H.), Worker, A. (Amanda), Wright, M.J. (Margaret J.), Yang, K. (Kun), Yoncheva, Y. (Yulyia), Zanetti, M.V. (Marcus V.), Ziegler, G.C. (Georg C.), Thompson, P.M. (Paul), and Frangou, S. (Sophia)
Abstract: Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3–90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.
Published: 2020
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41. Cerebral small vessel disease genomics and its implications across the lifespan

Author: Sargurupremraj, M. (Muralidharan), Suzuki, H. (Hideaki), Jian, X. (Xueqiu), Sarnowski, C., Evans, T.E (Tavia), Bis, J.C. (Joshua), Eiriksdottir, G. (Gudny), Sakaue, S. (Saori), Terzikhan, N. (Natalie), Habes, M. (Mohamad), Zhao, W. (Wei), Armstrong, N.J. (Nicola J.), Hofer, E. (Edith), Yanek, L.R. (Lisa), Hagenaars, S.P. (Saskia P.), Kumar, R.B. (Rajan B.), Akker, E.B. (Erik) van den, McWhirter, R.E. (Rebekah E.), Trompet, S. (Stella), Mishra, A. (Aniket), Saba, Y. (Yasaman), Satizabal, C.L. (Claudia), Beaudet, G. (Gregory), Petit, L. (Laurent), Tsuchida, A. (Ami), Zago, L. (Laure), Schilling, S. (Sabrina), Sigurdsson, S. (Stefan), Gottesman, R.F. (Rebecca), Lewis, C.E. (Cora E.), Aggarwal, N.T. (Neelum T.), Lopez, O.L. (Oscar), Smith, J.A. (Jennifer A), Valdés Hernández, M.C. (Maria C.), van der Grond, J. (Jeroen), Wright, M.J. (Margaret), Knol, M.J. (Maria J.), Dörr, M. (Marcus), Thomson, R. (Russell), Bordes, C. (Constance), Le Grand, Q. (Quentin), Duperron, M.-G. (Marie-Gabrielle), Smith, A.V. (Albert), Knopman, D.S. (David), Schreiner, P.J. (Pamela), Evans, D.A. (Denis A.), Rotter, J.I. (Jerome I.), Beiser, A. (Alexa), Maniega, S.M. (Susana Muñoz), Beekman, M. (Marian), Trollor, J., Stott, D.J. (David. J.), Vernooij, M.W. (Meike), Wittfeld, K. (Katharina), Niessen, W.J. (Wiro), Soumaré, A. (Aicha), Boerwinkle, E.A. (Eric), Sidney, S. (Stephen), Turner, S.T. (Stephen), Davies, G. (Gail), Thalamuthu, A. (Anbupalam), Völker, U. (Uwe), Buchem, M.A. (Mark) van, Bryan, R.N. (R. Nick), Amin, N. (Najaf), Bastin, M.E. (Mark), Ames, D.J. (David), Teumer, A. (Alexander), Amouyel, P. (Philippe), Kwok, J.B. (John B.), Bülow, R. (Robin), Deary, I.J. (Ian), Schofield, P.R. (Peter R.), Brodaty, H. (Henry), Jiang, J. (Jiyang), Tabara, Y. (Yasuharu), Setoh, K. (Kazuya), Miyamoto, S. (Susumu), Yoshida, K. (Kazumichi), Nagata, M. (Manabu), Kamatani, Y. (Yoichiro), Matsuda, F. (Fumihiko), Psaty, B.M. (Bruce), Bennett, D.A. (David), De Jager, P., Mosley, T.H. (Thomas H.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Warren, H. (Helen), Evangelou, E. (Evangelos), Trégouët, D.-A. (David-Alexandre), Andrade, M. (Mariza) de, Basu, S. (Saonli), Berr, C. (Claudine), Brody, J.A. (Jennifer A.), Chasman, D.I. (Daniel I.), Dartigues, J.-F., Folsom, A.R. (Aaron), Germain, M. (Marine), de Haan, H. (Hugoline), Heit, J.A. (John), Houwing-Duitermaat, J. (Jeanine), Kabrhel, C. (Christopher), Kraft, P. (Peter), Legal, G. (Grégoire), Lindström, S. (Sara), Monajemi, R. (Ramin), Morange, P.-E. (P.), Psaty, B.M. (Bruce M.), Reitsma, P.H. (Pieter H.), Jarvelin, M.-R. (Marjo-Riitta), Rose, L.M. (Lynda M.), Peyvandi, F. (Flora), Saut, N. (Noemie), Slagboom, E. (Eline), Smadja, D. (David), Smith, N.L. (Nicholas L.), Suchon, P. (Pierre), Tang, W. (Weihong), Taylor, K.D. (Kent D.), Tregouet, D.-A. (David-Alexandre), Tzourio, C. (Christophe), Visser, M.C.H. (Marieke) de, Hylckama Vlieg, A. (Astrid) van, Weng, L.-C., Wiggins, K.L. (Kerri L.), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tõnu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela M.), Todt, U. (Unda), Freilinger, T.M. (Tobias M.), Ran, C. (Caroline), Gordon, S.G. (Scott G.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Gudlaug Hrafnsdottir, M. (Maria), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew), Madden, P.A.F. (Pamela A. F.), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Francke Christensen, A. (Anne), Folkmann Hansen, T. (Thomas), Werge, T. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (M. Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), van den Maagdenberg, A.M.J.M. (Arn M. J. M.), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Davey Smith, G. (George), Eriksson, N. (Nicholas), Daly, M.J. (Mark), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel), Nyholt, D.R. (Dale), Palotie, A. (Aarno), Ikram, M.A. (Arfan), Wen, W. (Wei), DeCarli, C. (Charles), Srikanth, V. (Velandai), Jukema, J.W. (Jan Wouter), Slagboom, P.E. (Eline), Kardia, S.L.R. (Sharon), Okada, Y. (Yukinori), Mazoyer, B. (Bernard), Wardlaw, J.M. (J.), Nyquist, P. (Paul), Mather, R., Grabe, H.J. (Hans Jörgen), Schmidt, H. (Helena), Van Duijn, C.M. (Cornelia M.), Gudnason, V. (Vilmundur), Longstreth Jr, W.T., Launer, L.J. (Lenore), Lathrop, M. (Mark), Seshadri, S. (Sudha), Adams, H.H.H. (Hieab), Matthews, P.M. (P.), Fornage, M. (Myriam), Debette, S. (Stéphanie), Sargurupremraj, M. (Muralidharan), Suzuki, H. (Hideaki), Jian, X. (Xueqiu), Sarnowski, C., Evans, T.E (Tavia), Bis, J.C. (Joshua), Eiriksdottir, G. (Gudny), Sakaue, S. (Saori), Terzikhan, N. (Natalie), Habes, M. (Mohamad), Zhao, W. (Wei), Armstrong, N.J. (Nicola J.), Hofer, E. (Edith), Yanek, L.R. (Lisa), Hagenaars, S.P. (Saskia P.), Kumar, R.B. (Rajan B.), Akker, E.B. (Erik) van den, McWhirter, R.E. (Rebekah E.), Trompet, S. (Stella), Mishra, A. (Aniket), Saba, Y. (Yasaman), Satizabal, C.L. (Claudia), Beaudet, G. (Gregory), Petit, L. (Laurent), Tsuchida, A. (Ami), Zago, L. (Laure), Schilling, S. (Sabrina), Sigurdsson, S. (Stefan), Gottesman, R.F. (Rebecca), Lewis, C.E. (Cora E.), Aggarwal, N.T. (Neelum T.), Lopez, O.L. (Oscar), Smith, J.A. (Jennifer A), Valdés Hernández, M.C. (Maria C.), van der Grond, J. (Jeroen), Wright, M.J. (Margaret), Knol, M.J. (Maria J.), Dörr, M. (Marcus), Thomson, R. (Russell), Bordes, C. (Constance), Le Grand, Q. (Quentin), Duperron, M.-G. (Marie-Gabrielle), Smith, A.V. (Albert), Knopman, D.S. (David), Schreiner, P.J. (Pamela), Evans, D.A. (Denis A.), Rotter, J.I. (Jerome I.), Beiser, A. (Alexa), Maniega, S.M. (Susana Muñoz), Beekman, M. (Marian), Trollor, J., Stott, D.J. (David. J.), Vernooij, M.W. (Meike), Wittfeld, K. (Katharina), Niessen, W.J. (Wiro), Soumaré, A. (Aicha), Boerwinkle, E.A. (Eric), Sidney, S. (Stephen), Turner, S.T. (Stephen), Davies, G. (Gail), Thalamuthu, A. (Anbupalam), Völker, U. (Uwe), Buchem, M.A. (Mark) van, Bryan, R.N. (R. Nick), Amin, N. (Najaf), Bastin, M.E. (Mark), Ames, D.J. (David), Teumer, A. (Alexander), Amouyel, P. (Philippe), Kwok, J.B. (John B.), Bülow, R. (Robin), Deary, I.J. (Ian), Schofield, P.R. (Peter R.), Brodaty, H. (Henry), Jiang, J. (Jiyang), Tabara, Y. (Yasuharu), Setoh, K. (Kazuya), Miyamoto, S. (Susumu), Yoshida, K. (Kazumichi), Nagata, M. (Manabu), Kamatani, Y. (Yoichiro), Matsuda, F. (Fumihiko), Psaty, B.M. (Bruce), Bennett, D.A. (David), De Jager, P., Mosley, T.H. (Thomas H.), Sachdev, P.S. (Perminder), Schmidt, R. (Reinhold), Warren, H. (Helen), Evangelou, E. (Evangelos), Trégouët, D.-A. (David-Alexandre), Andrade, M. (Mariza) de, Basu, S. (Saonli), Berr, C. (Claudine), Brody, J.A. (Jennifer A.), Chasman, D.I. (Daniel I.), Dartigues, J.-F., Folsom, A.R. (Aaron), Germain, M. (Marine), de Haan, H. (Hugoline), Heit, J.A. (John), Houwing-Duitermaat, J. (Jeanine), Kabrhel, C. (Christopher), Kraft, P. (Peter), Legal, G. (Grégoire), Lindström, S. (Sara), Monajemi, R. (Ramin), Morange, P.-E. (P.), Psaty, B.M. (Bruce M.), Reitsma, P.H. (Pieter H.), Jarvelin, M.-R. (Marjo-Riitta), Rose, L.M. (Lynda M.), Peyvandi, F. (Flora), Saut, N. (Noemie), Slagboom, E. (Eline), Smadja, D. (David), Smith, N.L. (Nicholas L.), Suchon, P. (Pierre), Tang, W. (Weihong), Taylor, K.D. (Kent D.), Tregouet, D.-A. (David-Alexandre), Tzourio, C. (Christophe), Visser, M.C.H. (Marieke) de, Hylckama Vlieg, A. (Astrid) van, Weng, L.-C., Wiggins, K.L. (Kerri L.), Gormley, A.M., Anttila, V. (Verneri), Winsvold, B.S. (Bendik S.), Palta, P. (Priit), Esko, T. (Tõnu), Pers, T.H. (Tune H.), Farh, K.-H. (Kai-How), Cuenca-Leon, E. (Ester), Muona, M. (Mikko), Furlotte, N.A. (Nicholas A.), Kurth, T. (Tobias), Ingason, A. (Andres), McMahon, G. (George), Ligthart, L. (Lannie), Terwindt, G.M. (Gisela M.), Todt, U. (Unda), Freilinger, T.M. (Tobias M.), Ran, C. (Caroline), Gordon, S.G. (Scott G.), Stam, A.H. (Anine), Steinberg, S. (Stacy), Borck, G. (Guntram), Koiranen, M. (Markku), Quaye, L. (Lydia), Adams, H.H.H. (Hieab H. H.), Lehtimäki, T. (Terho), Sarin, A.-P., Wedenoja, J. (Juho), Hinds, D.A. (David A.), Buring, J.E. (Julie), Schürks, M. (Markus), Ridker, P.M. (Paul M.), Gudlaug Hrafnsdottir, M. (Maria), Stefansson, H. (Hreinn), Ring, S.M. (Susan M.), Hottenga, J.J. (Jouke Jan), Penninx, B.W.J.H. (Brenda), Färkkilä, M. (Markus), Artto, V. (Ville), Kaunisto, M.A. (Mari), Vepsäläinen, S. (Salli), Malik, R. (Rainer), Heath, A.C. (Andrew), Madden, P.A.F. (Pamela A. F.), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Kurki, M. (Mitja), Kals, M. (Mart), Mägi, R. (Reedik), Pärn, K. (Kalle), Hämäläinen, E. (Eija), Huang, H. (Hailiang), Byrnes, A.E. (Andrea E.), Franke, L. (Lude), Huang, J. (Jie), Stergiakouli, E. (Evie), Lee, P.H. (Phil H.), Sandor, C. (Cynthia), Webber, C. (Caleb), Cader, Z. (Zameel), Müller-Myhsok, B. (B.), Schreiber, S. (Stefan), Meitinger, T. (Thomas), Hagen, K. (Knut), Salomaa, V. (Veikko), Heikkilä, K. (Kauko), Loehrer, E. (Elizabeth), Uitterlinden, A.G. (André), Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Cherkas, L. (Lynn), Pedersen, L.M. (Linda M.), Stubhaug, A. (Audun), Nielsen, C.S. (Christopher S.), Männikkö, M. (Minna), Mihailov, E. (Evelin), Milani, L. (Lili), Esserlind, A.-L. (Ann-Louise), Francke Christensen, A. (Anne), Folkmann Hansen, T. (Thomas), Werge, T. (Thomas), Kaprio, J. (Jaakko), Aromaa, A. (Arpo), Raitakari, O. (Olli), Ikram, M.A. (M. Arfan), Spector, T.D. (Timothy), Järvelin, M.-R. (Marjo-Riitta), Metspalu, A. (Andres), Kubisch, C. (Christian), Beckmann, J.S. (Jacques), Ferrari, M.D. (Michel), Belin, A.C. (Andrea C.), Wessman, M. (Maija), van den Maagdenberg, A.M.J.M. (Arn M. J. M.), Zwart, J-A. (John-Anker), Boomsma, D.I. (Dorret), Davey Smith, G. (George), Eriksson, N. (Nicholas), Daly, M.J. (Mark), Neale, B.M. (Benjamin), Olesen, J. (Jes), Chasman, D.I. (Daniel), Nyholt, D.R. (Dale), Palotie, A. (Aarno), Ikram, M.A. (Arfan), Wen, W. (Wei), DeCarli, C. (Charles), Srikanth, V. (Velandai), Jukema, J.W. (Jan Wouter), Slagboom, P.E. (Eline), Kardia, S.L.R. (Sharon), Okada, Y. (Yukinori), Mazoyer, B. (Bernard), Wardlaw, J.M. (J.), Nyquist, P. (Paul), Mather, R., Grabe, H.J. (Hans Jörgen), Schmidt, H. (Helena), Van Duijn, C.M. (Cornelia M.), Gudnason, V. (Vilmundur), Longstreth Jr, W.T., Launer, L.J. (Lenore), Lathrop, M. (Mark), Seshadri, S. (Sudha), Adams, H.H.H. (Hieab), Matthews, P.M. (P.), Fornage, M. (Myriam), and Debette, S. (Stéphanie)
Abstract: White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.
Published: 2020
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42. A comparison of machine learning methods for survival analysis of high-dimensional clinical data for dementia prediction

Author: Spooner, A, Chen, E, Sowmya, A, Sachdev, P, Kochan, NA, Trollor, J, Brodaty, H, Spooner, A, Chen, E, Sowmya, A, Sachdev, P, Kochan, NA, Trollor, J, and Brodaty, H
Abstract: Data collected from clinical trials and cohort studies, such as dementia studies, are often high-dimensional, censored, heterogeneous and contain missing information, presenting challenges to traditional statistical analysis. There is an urgent need for methods that can overcome these challenges to model this complex data. At present there is no cure for dementia and no treatment that can successfully change the course of the disease. Machine learning models that can predict the time until a patient develops dementia are important tools in helping understand dementia risks and can give more accurate results than traditional statistical methods when modelling high-dimensional, heterogeneous, clinical data. This work compares the performance and stability of ten machine learning algorithms, combined with eight feature selection methods, capable of performing survival analysis of high-dimensional, heterogeneous, clinical data. We developed models that predict survival to dementia using baseline data from two different studies. The Sydney Memory and Ageing Study (MAS) is a longitudinal cohort study of 1037 participants, aged 70–90 years, that aims to determine the effects of ageing on cognition. The Alzheimer's Disease Neuroimaging Initiative (ADNI) is a longitudinal study aimed at identifying biomarkers for the early detection and tracking of Alzheimer's disease. Using the concordance index as a measure of performance, our models achieve maximum performance values of 0.82 for MAS and 0.93 For ADNI.
Published: 2020

43. Prevalence of intellectual disability in New South Wales, Australia: a multi-year cross-sectional dataset by Local Government Area (LGA)

Author: Carnemolla, P, Srasuebkul, P, Robertson, H, Trollor, J, Nicholas, N, Carnemolla, P, Srasuebkul, P, Robertson, H, Trollor, J, and Nicholas, N
Abstract: The presented dataset relates to a research project titled “My Home My Community” undertaken at University of Technology Sydney (UTS) which has been funded by the National Disability Insurance Agency (NDIA) Australia. The dataset reports estimated prevalence rates of Intellectual Disability in NSW by local government area (LGA) from 2010 – 2015. The dataset is a re-examination of a cohort of 92, 542 people with intellectual disability from a larger linked research dataset built by the Department of Developmental Disability Neuropsychiatry, School of Psychiatry, UNSW. The dataset in this paper is presented in a multi-year cross-sectional format. The cohort of people with Intellectual Disability was analysed to estimate, quantify and visualise where people with intellectual disability live in New South Wales (NSW). The cohort analysed in this dataset had been generated in an earlier project undertaken by the UNSW-based authors. This dataset was generated to share with local governments in Australia and has the potential to be more widely used in a range of health policy and planning research, and city and regional planning research environments. It represents one of the only datasets currently available in Australia on Intellectual Disability describing prevalence rates at a local government area level. This dataset allows for population comparisons in other Australian states and internationally and can be examined in combination with other social and economic datasets to continue to build evidence about disability, planning and geography.
Published: 2020

44. Factor structure and psychometric properties of the brief Connor–Davidson Resilience Scale for adults on the autism spectrum

Author: Hwang, YI, Arnold, S, Trollor, J, Uljarević, M, Hwang, YI, Arnold, S, Trollor, J, and Uljarević, M
Abstract: Resilience is an increasingly popular concept in literature as a protective factor against mental ill-health. While elevated rates of anxiety and mood disorders occur in adults on the autism spectrum, there is a gap in literature investigating the application of resilience to this population. This brief report examined the factor structure and psychometric properties of the 10-item Connor–Davidson Resilience Scale in a sample of 95 autistic adults (Mage = 44). Our findings provide evidence for a unidimensional structure and robust psychometric properties of the scale in an autistic population, in line with factorial studies involving the general population. Lay Abstract: Adults on the autism spectrum experience high rates of anxiety and depression, and may be particularly vulnerable to difficult and traumatic life experiences, which may contribute to the development and maintenance of these conditions. Resilience is an increasingly popular concept in research, which describes the ability to ‘bounce back’ following difficult emotional experiences, and the flexibility to adapt to stressful and demanding situations. The Connor–Davidson Resilience Scale has been used predominantly in studies involving non-autistic adults to measure resilience. While resilience is a potentially important concept for autistic adults, the suitability of the 10-item version of the Connor–Davidson Resilience Scale for use with adults on the spectrum has not yet been studied. In this short report, we investigate whether the Connor–Davidson Resilience Scale 10 is a valid measure to use with this population, and its relationship with other measures of mental well- or ill-being. Participants were 95 autistic adults with a mean age of 44 (63% female) who completed measures of resilience, autism symptoms, depression, anxiety and mental wellbeing. Overall, the findings indicate that the Connor–Davidson Resilience Scale 10 may be reliably used with autistic adults to measure trait resilience, which
Published: 2020

45. Understanding anxiety in adults on the autism spectrum: An investigation of its relationship with intolerance of uncertainty, sensory sensitivities and repetitive behaviours

Author: Hwang, YI, Arnold, S, Srasuebkul, P, Trollor, J, Hwang, YI, Arnold, S, Srasuebkul, P, and Trollor, J
Abstract: Anxiety is present in high rates in both children and adults on the autism spectrum. An increasing number of studies have highlighted the potentially important role that intolerance of uncertainty may have in anxiety for those on the spectrum, as well as their interrelationships with sensory sensitivities and repetitive behaviours. In response to a lack of studies involving adults, this study examined self-report survey data regarding intolerance of uncertainty, sensory sensitivities, repetitive behaviours and anxiety in a sample of 176 adults on the autism spectrum (mean age = 42). Intolerance of uncertainty and anxiety were both found to be elevated relative to non-autistic adults (N = 116) and significant, positive correlations were found between intolerance of uncertainty, anxiety, repetitive behaviours and sensory sensitivities in those on the spectrum. Intolerance of uncertainty was found to be a significant mediator between sensory sensitivities and anxiety, as well as between anxiety and insistence on sameness behaviours. These results were not sensitive to age. Intolerance of uncertainty is an important factor to be considered in the conceptualisation and management of elevated rates of anxiety for adults on the autism spectrum.
Published: 2020

46. Age-Related Changes of Peak Width Skeletonized Mean Diffusivity (PSMD) Across the Adult Lifespan: A Multi-Cohort Study

Author: Beaudet, G, Tsuchida, A, Petit, L, Tzourio, C, Caspers, S, Schreiber, J, Pausova, Z, Patel, Y, Paus, T, Schmidt, R, Pirpamer, L, Sachdev, PS, Brodaty, H, Kochan, N, Trollor, J, Wen, W, Armstrong, NJ, Deary, IJ, Bastin, ME, Wardlaw, JM, Munõz Maniega, S, Witte, AV, Villringer, A, Duering, M, Debette, S, Mazoyer, B, Beaudet, G, Tsuchida, A, Petit, L, Tzourio, C, Caspers, S, Schreiber, J, Pausova, Z, Patel, Y, Paus, T, Schmidt, R, Pirpamer, L, Sachdev, PS, Brodaty, H, Kochan, N, Trollor, J, Wen, W, Armstrong, NJ, Deary, IJ, Bastin, ME, Wardlaw, JM, Munõz Maniega, S, Witte, AV, Villringer, A, Duering, M, Debette, S, and Mazoyer, B
Abstract: Parameters of water diffusion in white matter derived from diffusion-weighted imaging (DWI), such as fractional anisotropy (FA), mean, axial, and radial diffusivity (MD, AD, and RD), and more recently, peak width of skeletonized mean diffusivity (PSMD), have been proposed as potential markers of normal and pathological brain ageing. However, their relative evolution over the entire adult lifespan in healthy individuals remains partly unknown during early and late adulthood, and particularly for the PSMD index. Here, we gathered and analyzed cross-sectional diffusion tensor imaging (DTI) data from 10 population-based cohort studies in order to establish the time course of white matter water diffusion phenotypes from post-adolescence to late adulthood. DTI data were obtained from a total of 20,005 individuals aged 18.1 to 92.6 years and analyzed with the same pipeline for computing skeletonized DTI metrics from DTI maps. For each individual, MD, AD, RD, and FA mean values were computed over their FA volume skeleton, PSMD being calculated as the 90% peak width of the MD values distribution across the FA skeleton. Mean values of each DTI metric were found to strongly vary across cohorts, most likely due to major differences in DWI acquisition protocols as well as pre-processing and DTI model fitting. However, age effects on each DTI metric were found to be highly consistent across cohorts. RD, MD, and AD variations with age exhibited the same U-shape pattern, first slowly decreasing during post-adolescence until the age of 30, 40, and 50 years, respectively, then progressively increasing until late life. FA showed a reverse profile, initially increasing then continuously decreasing, slowly until the 70s, then sharply declining thereafter. By contrast, PSMD constantly increased, first slowly until the 60s, then more sharply. These results demonstrate that, in the general population, age affects PSMD in a manner different from that of other DTI metrics. The constant incre
Published: 2020

47. Documenting the untold histories of late-diagnosed autistic adults: a qualitative study protocol using oral history methodology

Author: Pellicano, E, Lawson, W, Hall, G, Mahony, J, Lilley, R, Davis, C, Arnold, S, Trollor, J, Yudell, M, Pellicano, E, Lawson, W, Hall, G, Mahony, J, Lilley, R, Davis, C, Arnold, S, Trollor, J, and Yudell, M
Abstract: INTRODUCTION: Receiving a diagnosis of autism in adulthood is increasingly common for a subset of individuals who were either misdiagnosed in childhood or missed out on a diagnosis altogether. This qualitative study, coproduced with autistic people, invites late-diagnosed autistic adults to share their life histories to (1) understand better the consequences of living without a diagnosis, (2) elucidate what precipitates an autism diagnosis in mid-to-late adulthood and (3) identify the perceived impact of receiving that diagnosis. METHODS AND ANALYSIS: Oral histories have been a successful way to uncover overlooked and marginalised voices. We therefore adopt qualitative, oral history methodology in this study to understand these adults' experiences, especially of living in an era when autism was not well known. We will recruit 24 participants who will (1) have been born before 1975, (2) have received a clinical, autism diagnosis after the age of 35, (3) be English-speaking and (4) have spent most of their childhood and adulthood living in Australia. Participants will take part in four sessions, including the main, qualitative, oral history interview, through a range of possible formats to facilitate inclusion. The interview data will be analysed using reflexive thematic analysis. ETHICS AND DISSEMINATION: The protocol has received institutional research ethics approval from Macquarie University's Human Research Ethics Committee (Ref.: 52019556310562). This study will yield understanding of the life experiences of autistic adults, especially middle-aged and older Australians, should inform more effective diagnostic practices and provide insight into the key factors that might promote resilience and enhance quality of life in autistic people. The findings will be disseminated to academic and clinical audiences through journal articles and conference presentations and to the autistic and autism communities through accessible reports. The interviews will also be prepared
Published: 2020

48. Common genetic variation indicates separate causes for periventricular and deep white matter hyperintensities

Author: Armstrong, N.J., Mather, K.A., Sargurupremraj, M., Knol, M.J., Malik, R., Satizabal, C.L., Yanek, L.R., Wen, W., Gudnason, V.G., Dueker, N.D., Elliott, L.T., Hofer, E., Bis, J., Jahanshad, N., Li, S., Logue, M.A., Luciano, M., Scholz, M., Smith, A.V., Trompet, S., Vojinovic, D., Xia, R., Alfaro-Almagro, F., Ames, D., Amin, N., Amouyel, P., Beiser, A.S., Brodaty, H., Deary, I.J., Fennema-Notestine, C., Gampawar, P.G., Gottesman, R., Griffanti, L., Jack, C.R., Jenkinson, M., Jiang, J., Kral, B.G., Kwok, J.B., Lampe, L., Liewald, D.C.M., Maillard, P., Marchini, J., Bastin, M.E., Mazoyer, B., Pirpamer, L., Romero, J.R., Roshchupkin, G.V., Schofield, P.R., Schroeter, M.L., Stott, D.J., Thalamuthu, A., Trollor, J., Tzourio, C., Van der Grond, J., Vernooij, M.W., Witte, V.A., Wright, M.J., Yang, Q., Morris, Z., Siggurdsson, S., Psaty, B.M., Villringer, A., Schmidt, H., Håberg, A.K., van Duijn, C.M., Jukema, J.W., Dichgans, M., Sacco, R.L., Wright, C.B., Kremen, W.S., Becker, L.C., Thompson, P.M., Mosley, T.H., Wardlaw, J.M., Ikram, M.A., Adams, H.H.H., Seshadri, S., Sachdev, P.S., Smith, S.M., Launer, L., Longstreth, W.T., DeCarli, C., Schmidt, R., Fornage, M., Debette, S., Nyquist, P.A., Armstrong, N.J., Mather, K.A., Sargurupremraj, M., Knol, M.J., Malik, R., Satizabal, C.L., Yanek, L.R., Wen, W., Gudnason, V.G., Dueker, N.D., Elliott, L.T., Hofer, E., Bis, J., Jahanshad, N., Li, S., Logue, M.A., Luciano, M., Scholz, M., Smith, A.V., Trompet, S., Vojinovic, D., Xia, R., Alfaro-Almagro, F., Ames, D., Amin, N., Amouyel, P., Beiser, A.S., Brodaty, H., Deary, I.J., Fennema-Notestine, C., Gampawar, P.G., Gottesman, R., Griffanti, L., Jack, C.R., Jenkinson, M., Jiang, J., Kral, B.G., Kwok, J.B., Lampe, L., Liewald, D.C.M., Maillard, P., Marchini, J., Bastin, M.E., Mazoyer, B., Pirpamer, L., Romero, J.R., Roshchupkin, G.V., Schofield, P.R., Schroeter, M.L., Stott, D.J., Thalamuthu, A., Trollor, J., Tzourio, C., Van der Grond, J., Vernooij, M.W., Witte, V.A., Wright, M.J., Yang, Q., Morris, Z., Siggurdsson, S., Psaty, B.M., Villringer, A., Schmidt, H., Håberg, A.K., van Duijn, C.M., Jukema, J.W., Dichgans, M., Sacco, R.L., Wright, C.B., Kremen, W.S., Becker, L.C., Thompson, P.M., Mosley, T.H., Wardlaw, J.M., Ikram, M.A., Adams, H.H.H., Seshadri, S., Sachdev, P.S., Smith, S.M., Launer, L., Longstreth, W.T., DeCarli, C., Schmidt, R., Fornage, M., Debette, S., and Nyquist, P.A.
Abstract: Background and Purpose: Periventricular white matter hyperintensities (WMH; PVWMH) and deep WMH (DWMH) are regional classifications of WMH and reflect proposed differences in cause. In the first study, to date, we undertook genome-wide association analyses of DWMH and PVWMH to show that these phenotypes have different genetic underpinnings. Methods: Participants were aged 45 years and older, free of stroke and dementia. We conducted genome-wide association analyses of PVWMH and DWMH in 26,654 participants from CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology), ENIGMA (Enhancing Neuro-Imaging Genetics Through Meta-Analysis), and the UKB (UK Biobank). Regional correlations were investigated using the genome-wide association analyses -pairwise method. Cross-trait genetic correlations between PVWMH, DWMH, stroke, and dementia were estimated using LDSC. Results: In the discovery and replication analysis, for PVWMH only, we found associations on chromosomes 2 (NBEAL), 10q23.1 (TSPAN14/FAM231A), and 10q24.33 (SH3PXD2A). In the much larger combined meta-analysis of all cohorts, we identified ten significant regions for PVWMH: chromosomes 2 (3 regions), 6, 7, 10 (2 regions), 13, 16, and 17q23.1. New loci of interest include 7q36.1 (NOS3) and 16q24.2. In both the discovery/replication and combined analysis, we found genome-wide significant associations for the 17q25.1 locus for both DWMH and PVWMH. Using gene-based association analysis, 19 genes across all regions were identified for PVWMH only, including the new genes: CALCRL (2q32.1), KLHL24 (3q27.1), VCAN (5q27.1), and POLR2F (22q13.1). Thirteen genes in the 17q25.1 locus were significant for both phenotypes. More extensive genetic correlations were observed for PVWMH with small vessel ischemic stroke. There were no associations with dementia for either phenotype. Conclusions: Our study confirms these phenotypes have distinct and also shared genetic architectures. Genetic analyses indicated PVWMH was mo
Published: 2020

49. Age-Related changes of Peak Width Skeletonized Mean Diffusivity (PSMD) across the adult lifespan: A Multi-Cohort Study

Author: Beaudet, G., Tsuchida, A., Petit, L., Tzourio, C., Caspers, S., Schreiber, J., Pausova, Z., Patel, Y., Paus, T., Schmidt, R., Pirpamer, L., Sachdev, P.S., Brodaty, H., Kochan, N., Trollor, J., Wen, W., Armstrong, N.J., Deary, I.J., Bastin, M.E., Wardlaw, J.M., Munoz Maniega, S., Witte, A.V., Villringer, A., Duering, M., Debette, S., Mazoyer, B., Beaudet, G., Tsuchida, A., Petit, L., Tzourio, C., Caspers, S., Schreiber, J., Pausova, Z., Patel, Y., Paus, T., Schmidt, R., Pirpamer, L., Sachdev, P.S., Brodaty, H., Kochan, N., Trollor, J., Wen, W., Armstrong, N.J., Deary, I.J., Bastin, M.E., Wardlaw, J.M., Munoz Maniega, S., Witte, A.V., Villringer, A., Duering, M., Debette, S., and Mazoyer, B.
Abstract: Parameters of water diffusion in white matter derived from diffusion-weighted imaging (DWI), such as fractional anisotropy (FA), mean, axial, and radial diffusivity (MD, AD, and RD), and more recently, peak width of skeletonized mean diffusivity (PSMD), have been proposed as potential markers of normal and pathological brain ageing. However, their relative evolution over the entire adult lifespan in healthy individuals remains partly unknown during early and late adulthood, and particularly for the PSMD index. Here, we gathered and analyzed cross-sectional diffusion tensor imaging (DTI) data from 10 population-based cohort studies in order to establish the time course of white matter water diffusion phenotypes from post-adolescence to late adulthood. DTI data were obtained from a total of 20,005 individuals aged 18.1 to 92.6 years and analyzed with the same pipeline for computing skeletonized DTI metrics from DTI maps. For each individual, MD, AD, RD, and FA mean values were computed over their FA volume skeleton, PSMD being calculated as the 90% peak width of the MD values distribution across the FA skeleton. Mean values of each DTI metric were found to strongly vary across cohorts, most likely due to major differences in DWI acquisition protocols as well as pre-processing and DTI model fitting. However, age effects on each DTI metric were found to be highly consistent across cohorts. RD, MD, and AD variations with age exhibited the same U-shape pattern, first slowly decreasing during post-adolescence until the age of 30, 40, and 50 years, respectively, then progressively increasing until late life. FA showed a reverse profile, initially increasing then continuously decreasing, slowly until the 70s, then sharply declining thereafter. By contrast, PSMD constantly increased, first slowly until the 60s, then more sharply. These results demonstrate that, in the general population, age affects PSMD in a manner different from that of other DTI metrics. The constant incre
Published: 2020

50. Survival of children and adolescents with intellectual disability following gastrostomy insertion

Author: Wong, K., Glasson, E.J., Jacoby, P., Srasuebkul, P., Forbes, D., Ravikumara, M., Wilson, A., Bourke, J., Trollor, J., Leonard, H., Nagarajan, L., Downs, Jennepher, Wong, K., Glasson, E.J., Jacoby, P., Srasuebkul, P., Forbes, D., Ravikumara, M., Wilson, A., Bourke, J., Trollor, J., Leonard, H., Nagarajan, L., and Downs, Jennepher
Abstract: Background: Positive health outcomes have been observed following gastrostomy insertion in children with intellectual disability, which is being increasingly used at younger ages to improve nutritional intake. This study investigated the effect of gastrostomy insertion on survival of children with severe intellectual disability. Methods: We used linked disability and health data of children and adolescents who were born in Western Australia between 1983 and 2009 to compare survival of individuals with severe intellectual disability by exposure to gastrostomy status. For those born in 2000–2009, we employed propensity score matching to adjust for confounding by indication. Effect of gastrostomy insertion on survival was compared by pertinent health and sociodemographic risk factors. Results: Compared with children born in the 1980s–1990s, probability of survival following first gastrostomy insertion for those born in 2000–2009 was higher (2 years: 94% vs. 83%). Mortality risk was higher in cases than that in their matched controls (hazard ratio 2.9, 95% confidence interval 1.1, 7.3). The relative risk of mortality (gastrostomy vs. non-gastrostomy) may have differed by sex, birthweight and time at first gastrostomy insertion. Respiratory conditions were a common immediate or underlying cause of death among all children, particularly among those undergoing gastrostomy insertion. Conclusions: Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time, and gastrostomy afforded some protection for the more vulnerable groups, and earlier use appears beneficial to survival. Specific clinical data that may be used to prioritise the need for gastrostomy insertion may be responsible for the survival differences observed.
Published: 2020

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