Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

AbstractBackgroundRecent analyses of trait-disorder overlap suggest that psychiatric dimensions may relate to distinct sets of genes that exert their maximum influence during different periods of development. This includes analyses of social-communciation difficulties that share, depending on their developmental stage, stronger genetic links with either Autism Spectrum Disorder or schizophrenia. Here we developed a multivariate analysis framework in unrelated individuals to model directly the developmental profile of genetic influences contributing to complex traits, such as social-communication difficulties, during a ∼10-year period spanning childhood and adolescence.MethodsLongitudinally assessed quantitative social-communication problems (N≤ 5,551) were studied in participants from a UK birth cohort (ALSPAC, 8 to 17 years). Using standardised measures, genetic architectures were investigated with novel multivariate genetic-relationship-matrix structural equation models (GSEM) incorporating whole-genome genotyping information. Analogous to twin research, GSEM included Cholesky decomposition, common pathway and independent pathway models.ResultsA 2-factor Cholesky decomposition model described the data best. One genetic factor was common to SCDC measures across development, the other accounted for independent variation at 11 years and later, consistent with distinct developmental profiles in trait-disorder overlap. Importantly, genetic factors operating at 8 years explained only ∼50% of the genetic variation at 17 years.ConclusionUsing latent factor models, we identified developmental changes in the genetic architecture of social-communication difficulties that enhance the understanding of ASD and schizophrenia-related dimensions. More generally, GSEM present a framework for modelling shared genetic aetiologies between phenotypes and can provide prior information with respect to patterns and continuity of trait-disorder overlap.

Download Full-text

Social Communication Intervention for an Adult with Asperger Syndrome: Experiences, Perspectives, and Challenges

Perspectives on Language Learning and Education ◽

10.1044/lle21.1.29 ◽

2014 ◽

Vol 21 (1) ◽

pp. 29-37

Author(s):

Siva priya Santhanam

Keyword(s):

Asperger Syndrome ◽

Social Communication ◽

Autism Spectrum ◽

Childhood And Adolescence ◽

Work Settings ◽

Social Abilities ◽

Old Adult ◽

Social Communication Intervention ◽

Highly Able ◽

Organizational Needs

Adults on the autism spectrum, despite having received intervention throughout their childhood and adolescence, continue to experience challenges with everyday social interactions, forming and maintaining relationships, and social abilities needed in work settings. This article presents a case example of a 22-year-old adult with Asperger syndrome, and highlights the issues in providing intervention for highly able young adults on the autism spectrum. A unique feature of this report is the inclusion of the client's own insights into his experiences, perspectives, and challenges with the intervention. The approaches used to address his social communication and organizational needs are outlined, and clinical implications discussed.

Download Full-text

158. Exploring the Common Genetic Architecture of PTSD Symptoms in the UK Biobank

Biological Psychiatry ◽

10.1016/j.biopsych.2018.02.176 ◽

2018 ◽

Vol 83 (9) ◽

pp. S64 ◽

Cited By ~ 1

Author(s):

Gerome Breen ◽

Jonathan Coleman

Keyword(s):

Genetic Architecture ◽

Ptsd Symptoms ◽

Uk Biobank ◽

The Common ◽

The Uk

Download Full-text

Rhabdomyosarcoma of the Oral Cavity: A Case Report

European Journal of Dentistry ◽

10.1055/s-0039-1698902 ◽

2011 ◽

Vol 05 (03) ◽

pp. 340-343 ◽

Cited By ~ 10

Author(s):

Ozkan Miloglu ◽

Sare Sipal Altas ◽

Mustafa Cemil Buyukkurt ◽

Burak Erdemci ◽

Oguzhan Altun

Keyword(s):

Skeletal Muscle ◽

Case Report ◽

Soft Tissue ◽

Oral Cavity ◽

Head And Neck ◽

Soft Tissues ◽

Neck Region ◽

Childhood And Adolescence ◽

Head And Neck Region ◽

The Common

ABSTRACTRhabdomyosarcoma (RMS), a tumor of skeletal muscle origin, is the most common soft tissue sarcoma encountered in childhood and adolescence. The common sites of occurrence are the head and neck region, genitourinary tract, retroperitonium, and, to a lesser extent, the extremities. In the head and neck region, the most commonly affected sites are the orbit, paranasal sinuses, soft tissues of the cheek, and the neck. RMS is relatively uncommon in the oral cavity, and the involvement of the jaws is extremely rare. Here, we report a case of oral RMS in a 13-year-old child and describe the clinical, radiological, histopathological, and immunohistochemical findings. (Eur J Dent 2011;5:340-343)

Download Full-text

Genes, environments and depressions in young people

Archives of Disease in Childhood ◽

10.1136/archdischild-2014-306936 ◽

2015 ◽

Vol 100 (11) ◽

pp. 1064-1069 ◽

Cited By ~ 4

Author(s):

Ian M Goodyer

Keyword(s):

Young People ◽

Environmental Factors ◽

Mental Illnesses ◽

Childhood And Adolescence ◽

The Common ◽

Genetic And Environmental Factors

Among the common mental illnesses in childhood and adolescence, the unipolar depressions are the most concerning. These mental illnesses are aetiologically and clinically heterogeneous and little is known about their pathophysiology. This selected review considers the contribution of genetic and environmental factors in the emergence of these illnesses in the second decade of life.

Download Full-text

Fake Image Detection

International Journal for Research in Applied Science and Engineering Technology ◽

10.22214/ijraset.2021.35238 ◽

2021 ◽

Vol 9 (VI) ◽

pp. 1140-1145

Author(s):

S. Shalini

Keyword(s):

Social Media ◽

National Security ◽

Social Communication ◽

Public Confidence ◽

Media Content ◽

Image Detection ◽

The People ◽

The Common ◽

Short Time ◽

Text Images

In this technological generation, social media plays an important role in people’s daily life. Most of them share text, images and videos on social media(Instagram, Facebook, Twitter ,etc.,). Images are one of the common types of media share among users on social media. So, there is a chance for monitoring of images contained in social media. So most of the people can fabricate these images and disseminate them widely in a very short time, which treats the creditability of the news and public confidence in the means of social communication. So here this research has attempted to propose an approach which will extract image content, classify it and verify that the image is false or true and uncovers the manipulation. There are many unwanted contents in social media such as threats and forged images, which may cause many issues to the society and also national security. This approach aims to build a model that can be used to classify social media content to detect any threats and forged images.

Download Full-text

Accurate Genomic Prediction Of Human Height

10.1101/190124 ◽

2017 ◽

Cited By ~ 6

Author(s):

Louis Lello ◽

Steven G. Avery ◽

Laurent Tellier ◽

Ana I. Vazquez ◽

Gustavo de los Campos ◽

...

Keyword(s):

Genetic Architecture ◽

Uk Biobank ◽

Multiple Phenotypes ◽

Human Height ◽

Out Of Sample ◽

Heel Bone ◽

The Common ◽

Actual Height ◽

The Uk ◽

Missing Heritability Problem

AbstractWe construct genomic predictors for heritable and extremely complex human quan-titative traits (height, heel bone density, and educational attainment) using modern methods in high dimensional statistics (i.e., machine learning). Replication tests show that these predictors capture, respectively, ∼40, 20, and 9 percent of total variance for the three traits. For example, predicted heights correlate ∼0.65 with actual height; actual heights of most individuals in validation samples are within a few cm of the prediction. The variance captured for height is comparable to the estimated SNP heritability from GCTA (GREML) analysis, and seems to be close to its asymptotic value (i.e., as sample size goes to infinity), suggesting that we have captured most of the heritability for the SNPs used. Thus, our results resolve the common SNP portion of the “missing heritability” problem – i.e., the gap between prediction R-squared and SNP heritability. The ∼20k activated SNPs in our height predictor reveal the genetic architecture of human height, at least for common SNPs. Our primary dataset is the UK Biobank cohort, comprised of almost 500k individual genotypes with multiple phenotypes. We also use other datasets and SNPs found in earlier GWAS for out-of-sample validation of our results.

Download Full-text

Curly Questions

Twin Research and Human Genetics ◽

10.1017/thg.2020.23 ◽

2020 ◽

Vol 23 (2) ◽

pp. 98-99

Author(s):

Sarah E. Medland

Keyword(s):

Genetic Variants ◽

Genetic Architecture ◽

Statistical Genetics ◽

The Past ◽

Social Traits ◽

Common Thread ◽

Working Together ◽

The Common ◽

The Way

AbstractThis letter reflects on my collaborations with Nick Martin over the past 18 years. Working together we have applied twin-family and statistical genetics methods to examine the genetic architecture and identify genetic variants influencing a range of physical, psychological and social traits. The common thread across much of this work has been the empirical questions: Why are we the way we are and how can this knowledge help us when things go wrong?

Download Full-text

On the relationship between high-order linkage disequilibrium and epistasis

10.1101/305342 ◽

2018 ◽

Author(s):

Yanjun Zan ◽

Simon K. G. Forsberg ◽

Örjan Carlborg

Keyword(s):

Linkage Disequilibrium ◽

Genetic Architecture ◽

Genomic Region ◽

High Order ◽

Common Assumption ◽

Association Analyses ◽

Functional Polymorphisms ◽

Genome Wide ◽

The Common ◽

The Relationship

AbstractA plausible explanation for statistical epistasis revealed in genome wide association analyses is the presence of high order linkage disequilibrium (LD) between the genotyped markers tested for interactions and unobserved functional polymorphisms. Based on findings in experimental data, it has been suggested that high order LD might be a common explanation for statistical epistasis inferred between local polymorphisms in the same genomic region. Here, we empirically evaluate how prevalent high order LD is between local, as well as distal, polymorphisms in the genome. This could provide insights into whether we should account for this when interpreting results from genome wide scans for statistical epistasis. An extensive and strong genome wide high order LD was revealed between pairs of markers on the high density 250k SNP-chip and individual markers revealed by whole genome sequencing in the A. thaliana 1001-genomes collection. The high order LD was found to be more prevalent in smaller populations, but present also in samples including several hundred individuals. An empirical example illustrates that high order LD might be an even greater challenge in cases when the genetic architecture is more complex than the common assumption of bi-allelic loci. The example shows how significant statistical epistasis is detected for a pair of markers in high order LD with a complex multi allelic locus. Overall, our study illustrates the importance of considering also other explanations than functional genetic interactions when genome wide statistical epistasis is detected, in particular when the results are obtained in small populations of inbred individuals.

Download Full-text