scholarly journals AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Bernard Crespi ◽  
Silven Read ◽  
Amy Ly ◽  
Peter Hurd
Keyword(s):  
Sex Differences ◽  
Differential Expression ◽  
Genetic Effects ◽  
Sexually Dimorphic ◽  
Male Bias ◽  
Autism Quotient ◽  
Genome Wide ◽  
Extreme Male Brain ◽  
Brain Theory ◽  
Extreme Male Brain Theory

The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences in the expression of autism-associated traits found in typical populations. The theory is supported by extensive phenotypic evidence, but no genes have yet been described with properties that fit its predictions. The autophagy-associated gene AMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differential expression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. We genotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expression of autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase in score for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typical populations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associated phenotype. These findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects can mediate aspects of risk for autism.

scholarly journals Sex Differences in the Brain: Implications for Explaining Autism

Science ◽  
2005 ◽  
Vol 310 (5749) ◽  
pp. 819-823 ◽  
Author(s):  
Simon Baron-Cohen ◽  
Rebecca C. Knickmeyer ◽  
Matthew K. Belmonte
Keyword(s):  
Sex Differences ◽  
Population Level ◽  
Mental States ◽  
Deterministic Systems ◽  
Extreme Male Brain ◽  
Brain Theory ◽  
The Brain ◽  
Extreme Male Brain Theory ◽  
Male Pattern

Empathizing is the capacity to predict and to respond to the behavior of agents (usually people) by inferring their mental states and responding to these with an appropriate emotion. Systemizing is the capacity to predict and to respond to the behavior of nonagentive deterministic systems by analyzing input-operation-output relations and inferring the rules that govern such systems. At a population level, females are stronger empathizers and males are stronger systemizers. The “extreme male brain” theory posits that autism represents an extreme of the male pattern (impaired empathizing and enhanced systemizing). Here we suggest that specific aspects of autistic neuroanatomy may also be extremes of typical male neuroanatomy.

Testing the Extreme Male Brain Theory of Autism Spectrum Disorder in a Familial Design

2014 ◽  
Vol 7 (4) ◽  
pp. 491-500 ◽  
Author(s):  
Ingeborg Hauth ◽  
Yvette G. E. de Bruijn ◽  
Wouter Staal ◽  
Jan K. Buitelaar ◽  
Nanda N. Rommelse
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Extreme Male Brain ◽  
Brain Theory ◽  
Extreme Male Brain Theory

scholarly journals Autistic traits, empathizing-systemizing, and gender variance

2020 ◽  
Author(s):  
Olivia Hendriks ◽  
Yimeng Wei ◽  
Varun Warrier ◽  
Gareth Richards
Keyword(s):  
Autistic Traits ◽  
Autism Spectrum ◽  
Autism Spectrum Quotient ◽  
Gender Variance ◽  
Gender Variant ◽  
Sexual Orientations ◽  
Extreme Male Brain ◽  
Brain Theory ◽  
And Gender ◽  
Extreme Male Brain Theory

Previous research indicates a link between autism and gender variance, though the basis for this association is not fully understood. The current study examined autistic traits (as measured by the Autism Spectrum Quotient [AQ]) and empathizing and systemizing (as measured by the Empathizing Quotient-Short [EQ-S] and Systemizing Quotient-Short [SQ-S]) in a sample of n=89 UK adults representing a broad range of gender identities and sexual orientations. Compared with cisgender individuals (i.e. those who identify as the same gender as that assigned at birth), gender variant participants had significantly higher AQ and SQ-S scores, and stronger systemizing relative to empathizing (D-score). Further analysis revealed that there were significant differences between cisgender females and those assigned female at birth who do not identify as female (transgender AFAB), but not between cisgender males and those assigned male at birth who do not identify as male (transgender AMAB). These findings are broadly in line with the extreme male brain theory of autism, and may be relevant for developing effective support for gender variant and/or autistic individuals.

scholarly journals Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Bao-Zhu Yang ◽  
Hang Zhou ◽  
Zhongshan Cheng ◽  
Henry R. Kranzler ◽  
Joel Gelernter
Keyword(s):  
Sex Differences ◽  
Enrichment Analysis ◽  
Inferior Olivary Nucleus ◽  
Sexually Dimorphic ◽  
Genome Wide ◽  
Nominal Significance ◽  
Dsm Iv ◽  
Inferior Olivary ◽  
G Protein Coupled ◽  
Olivary Nucleus

AbstractSex differences in opioid dependence (OD) are genetically influenced. We conducted genomewide gene-by-sex interaction scans for the DSM-IV diagnosis of OD in 8,387 African-American (AA) or European-American subjects (43.6% women; 4,715 OD subjects). Among AAs, 9 SNPs were genome-wide significant at ADGRV1 (adhesion G-protein-coupled receptor V1, lead-SNP rs2366929*(C/T), p = 1.5 × 10−9) for sex-different risk of OD, with the rs2366929*C-allele increasing OD risk only for men. The top co-expressions in brain were between ADGRV1 and GRIK2 in substantia nigra and medullary inferior olivary nucleus, and between ADGRV1 and EFHC2 in frontal cortex and putamen. Significant sex-differential ADGRV1 expression from GTEx was detected in breast (Bonferroni-corrected-p < 0.002) and in heart (p < 0.0125), with nominal significance identified in brain, thyroid, lung, and stomach (p < 0.05). ADGRV1 co-expression and disease-enrichment analysis identifying the top 10 diseases showed strikingly sexually dimorphic risks. The enrichment and transcriptome analyses provided convergent support that ADGRV1 exerts a sex-different effect on OD risk. This is the first study to identify genetic variants contributing to sex differences in OD. It shows that ADGRV1 contributes to OD risk only in AA men, a finding that warrants further study.

scholarly journals Autistic traits, systemising, empathising, and theory of mind in transgender and non-binary adults

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Karson T. F. Kung
Keyword(s):  
Theory Of Mind ◽  
General Population ◽  
Clinical Sample ◽  
Autistic Traits ◽  
Gender Minority ◽  
Extreme Male Brain ◽  
Empathy Quotient ◽  
Brain Theory ◽  
Extreme Male Brain Theory ◽  
Transgender Men

Abstract Background Prior research examining autistic traits in gender minority adults has reported mixed findings. Most prior studies did not include non-binary individuals. Little is known about the mechanisms shaping autistic traits in gender minority adults. This study examined autistic traits, as well as constructs related to the extreme male brain theory of autism and the mindblindness theory, in transgender and non-binary adults. Methods An online survey was conducted to assess autism-related traits in 323 gender minority adults, including 74 transgender men (individuals assigned female at birth and identify as a man), 95 transgender women (individuals assigned male at birth and identify as a woman), 104 non-binary AFAB (individuals assigned female at birth and identify as non-binary), and 50 non-binary AMAB (individuals assigned male at birth and identify as non-binary). Autistic traits, systemising, empathising, and Theory of Mind (ToM) were measured using the Autism Spectrum Quotient (AQ), the short forms of the Systemising Quotient (SQ-Short) and the Empathy Quotient (EQ-Short), the 10-item version of the Empathy Quotient (EQ-10) and the Reading the Mind in the Eyes Test (Eyes Test). Participants’ scores on these measures were compared with previously published scores based on large-scale general population samples including thousands of participants. Results On average, compared with control females in the general population samples, both transgender men and non-binary AFAB scored significantly higher on the AQ and the SQ-Short but scored significantly lower on the EQ-Short, the EQ-10, and the Eyes Test. No clear or consistent group differences emerged when transgender women and non-binary AMAB were compared with control males. Limitations The present study does not have a large sample of gender minority adults. It has been argued that the measures employed may not provide a precise assessment of the psychological constructs of interest. The present study has a “non-clinical” sample. However, not all gender minorities have access to or require clinical services, and so a “non-clinical” sample may be more representative of the gender minority community as a whole than samples recruited through clinics. Conclusions The current findings suggest a “masculinised” autism-related profile and reduced ToM in transgender men and in non-binary AFAB. These findings might be interpreted to support the extreme male brain theory of autism and the mindblindness theory. Further research is needed to corroborate these findings.

Fetal androgen exposure and pragmatic language ability of girls in middle childhood: Implications for the extreme male-brain theory of autism

2010 ◽  
Vol 35 (8) ◽  
pp. 1259-1264 ◽  
Author(s):  
Andrew J.O. Whitehouse ◽  
Murray T. Maybery ◽  
Roger Hart ◽  
Eugen Mattes ◽  
John P. Newnham ◽  
...  
Keyword(s):  
Middle Childhood ◽  
Language Ability ◽  
Pragmatic Language ◽  
Androgen Exposure ◽  
Extreme Male Brain ◽  
Brain Theory ◽  
Extreme Male Brain Theory
Sign in / Sign up

Export Citation Format

Share Document