Browsing by Subject "Autism"

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Open Access
Autism spectrum disorders: a close-reading of four independent films
(2018-12) Mostowfi, Ahou
Both Hollywood and independent productions have been interested in depicting Autism Spectrum Disorders in the last thirty years. Within this period, diagnostic criteria of this developmental disorder have made dramatically progress by involving in different conditions and understandings. In parallel with this progress, it can be assumed that contemporary film and tv productions have offered diverse representations of ASD. Yet, to make such assumption, several progresses in different factors (diagnosis of ASD, representations of ASD, production models of the films) should be investigated. The current thesis aims to examine the tendency of using stereotypical representations of ASD in the contemporary independent productions. In this respect, the examination will be made through the close-readings of the following four films, Temple Grandin (2010), Life, Animated (2016), Snow Cake (2006) and Mozart and the Whale (2005).
Open Access
DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders
(Cell Press, 2022-07-08) Beyreli, İlayda; Karakahya, Oğuzhan; Çiçek, A. Ercüment
Autism spectrum disorder and intellectual disability are comorbid neurodevelopmental disorders with complex genetic architectures. Despite large-scale sequencing studies, only a fraction of the risk genes was identified for both. We present a network-based gene risk prioritization algorithm, DeepND, that performs cross-disorder analysis to improve prediction by exploiting the comorbidity of autism spectrum disorder (ASD) and intellectual disability (ID) via multitask learning. Our model leverages information from human brain gene co-expression networks using graph convolutional networks, learning which spatiotemporal neurodevelopmental windows are important for disorder etiologies and improving the state-of-the-art prediction in single- and cross-disorder settings. DeepND identifies the prefrontal and motor-somatosensory cortex (PFC-MFC) brain region and periods from early- to mid-fetal and from early childhood to young adulthood as the highest neurodevelopmental risk windows for ASD and ID. We investigate ASD- and ID-associated copy-number variation (CNV) regions and report our findings for several susceptibility gene candidates. DeepND can be generalized to analyze any combinations of comorbid disorders. © 2022 The Author(s)
Open Access
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
(Cell Press, 2015) Sanders, S. J.; He, X.; Willsey, A. J.; Ercan-Sencicek, A. G.; Samocha, K. E.; Cicek, A. E.; Murtha, M. T.; Bal, V. H.; Bishop, S. L.; Dong, S.; Goldberg, A. P.; Jinlu, C.; Keaney, J. F.; Keaney III, J. F.; Mandell, J. D.; Moreno-De-Luca, D.; Poultney, C. S.; Robinson, E. B.; Smith L.; Solli-Nowlan, T.; Su, M. Y.; Teran, N. A.; Walker, M. F.; Werling, D. M.; Beaudet, A. L.; Cantor, R. M.; Fombonne, E.; Geschwind, D. H.; Grice, D. E.; Lord, C.; Lowe, J. K.; Mane, S. M.; Martin, D.M.; Morrow, E. M.; Talkowski, M. E.; Sutcliffe, J. S.; Walsh, C. A.; Yu, T. W.; Ledbetter, D. H.; Martin, C. L.; Cook, E. H.; Buxbaum, J. D.; Daly, M. J.; Devlin, B.; Roeder, K.; State, M. W.
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autism Sequencing Consortium (ASC) shows that genes within small de novo deletions, but not within large dnCNVs, significantly overlap the high-effect risk genes identified by sequencing. Alternatively, large dnCNVs are found likely to contain multiple modest-effect risk genes. Overall, we find strong evidence that de novo mutations are associated with ASD apart from the risk for intellectual disability. Extending the transmission and de novo association test (TADA) to include small de novo deletions reveals 71 ASD risk loci, including 6 CNV regions (noted above) and 65 risk genes (FDR ≤ 0.1). Through analysis of de novo mutations in autism spectrum disorder (ASD), Sanders et al. find that small deletions, but not large deletions/duplications, contain one critical gene. Combining CNV and sequencing data, they identify 6 loci and 65 genes associated with ASD.
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Otizm üzerine yazısına katkılar
(1989) Emik, Caner
Open Access
A statistical framework for mapping risk genes from de novo mutations in whole-genome-sequencing studies
(Cell Press, 2018) Liu, Y.; Liang, Y.; Çiçek, A. Ercüment; Li, Z.; Li, J.; Muhle, R. A.; Krenzer, M.; Mei, Y.; Wang Y.; Knoblauch, N.; Morrison, J.; Zhao, S.; Jiang, Y.; Geller, E.; Ionita-Laza, I.; Wu, J.; Xia, K.; Noonan, J. P.; Sun, Z. S.; He, X.
Analysis of de novo mutations (DNMs) from sequencing data of nuclear families has identified risk genes for many complex diseases, including multiple neurodevelopmental and psychiatric disorders. Most of these efforts have focused on mutations in protein-coding sequences. Evidence from genome-wide association studies (GWASs) strongly suggests that variants important to human diseases often lie in non-coding regions. Extending DNM-based approaches to non-coding sequences is challenging, however, because the functional significance of non-coding mutations is difficult to predict. We propose a statistical framework for analyzing DNMs from whole-genome sequencing (WGS) data. This method, TADA-Annotations (TADA-A), is a major advance of the TADA method we developed earlier for DNM analysis in coding regions. TADA-A is able to incorporate many functional annotations such as conservation and enhancer marks, to learn from data which annotations are informative of pathogenic mutations, and to combine both coding and non-coding mutations at the gene level to detect risk genes. It also supports meta-analysis of multiple DNM studies, while adjusting for study-specific technical effects. We applied TADA-A to WGS data of ∼300 autism-affected family trios across five studies and discovered several autism risk genes. The software is freely available for all research uses.
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Türkiye'de otizm farkındalığının gelişimi ve topluma yansıması
(Bilkent University, 2020) Bahtiyar, İrem; Aydın, Enis; Duman, Uzay Can; Aslan, Ali Cahit; Mutlu, Adeviye
Bu makale Türkiye'deki otizm farkındalığının 20. yüzyılın ortalarından itibaren nasıl geliştiğini, bu farkındalığın gelişmesi için ne gibi çalışmalar yapıldığını ve bu çalışmaların etkilerini ele almaktadır. Farkındalığın gelişmesinin toplum düzeyinde yaptığı etkiler ve bu etkilerin sonuçları incelenmiştir. Ayrıca farkındalığın gelişmesi ile beraber otizmli bireylere olan ilgi artmıştır. Artan ilgiyle birlikte otizmli bireylerin topluma kazandırılması sürecinin en önemli kısmı olan eğitim ve bu eğitimin otizmli bireylerin hayat kalitelerini nasıl etkilediği de ele alınmıştır. Bunlara ek olarak medya unsurlarının otizm farkındalığıyla olan ilişkisi ve farkındalığa olan katkısının önemi de incelenmiştir.
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Türkiye’de otizm ve toplumsal farkındalık: Nevin Eracar’ın katkıları
(Bilkent University, 2023) Karabulut, Bilge Su; Gültekin, Doğa Aybike; Bülbül, Ekin Deniz; Özgedik, Zeynep
Bu çalışma, klinik psikolog Nevin Eracar'ın otizm konusundaki kariyerini ve toplumsal farkındalığı artırma çabalarını ele almaktadır. Araştırmada, Nevin Eracar ile gerçekleştirilen sözlü tarih çalışması temel alınarak, otizmle mücadele stratejileri incelenmiştir. Makale, Eracar'ın otizm spektrum bozukluğuyla ilgili kariyerinin geniş yelpazesini kapsayarak, özellikle erken müdahaledeki modelini, otizmle ilgili yayımladığı kitapları ve gerçekleştirdiği araştırmaları detaylı bir şekilde ele almaktadır. Ayrıca, toplumsal farkındalık oluşturmak amacıyla düzenlediği etkinlikler ve yürüttüğü çalışmalar da makalenin odak noktalarından biridir. Bu makale, Eracar'ın otizm konusundaki önemli katkılarını vurgulayarak, otizm spektrum bozukluğuyla ilgili farkındalığın artırılmasının ve otistik bireylerin hayat kalitesinin iyileştirilmesinin akademik ve toplumsal önemine odaklanmaktadır.