Asperger's syndrome: Difference between revisions

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The complementary imprinted brain theory puts psychotic spectrum disorders (such as schizophrenia) on the opposite end of a spectrum from ASD, purportedly resulting from a conflict in the genomic imprinting between paternal and maternal genes, with extreme genomic imprinting in favor of paternal genes being associated with ASD.<ref>https://www.psychologytoday.com/intl/blog/the-imprinted-brain/201506/testing-the-extreme-female-brain-theory-psychosis</ref> This also corresponds with sex differences in empathizing vs systematizing<ref>https://www.pnas.org/content/115/48/12152?fbclid=IwAR0ngaYIo88A77EKpALefnsr54ZZpPWGbatCYNPBcC84HgcDGmsZ2c6VgB4</ref> which find females are generally higher in empathizing and males highest in systematizing. Autistic individuals of both sexes typically display a more masculinized behavioral phenotype in terms of systematizing/empathizing. These developmental theories are not necessarily mutually exclusive with the theories of ASD that attribute the etiology of the disorder to greater [[mutation|mutational load]].<ref>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895441/</ref>
The complementary imprinted brain theory puts psychotic spectrum disorders (such as schizophrenia) on the opposite end of a spectrum from ASD, purportedly resulting from a conflict in the genomic imprinting between paternal and maternal genes, with extreme genomic imprinting in favor of paternal genes being associated with ASD.<ref>https://www.psychologytoday.com/intl/blog/the-imprinted-brain/201506/testing-the-extreme-female-brain-theory-psychosis</ref> This also corresponds with sex differences in empathizing vs systematizing<ref>https://www.pnas.org/content/115/48/12152?fbclid=IwAR0ngaYIo88A77EKpALefnsr54ZZpPWGbatCYNPBcC84HgcDGmsZ2c6VgB4</ref> which find females are generally higher in empathizing and males highest in systematizing. Autistic individuals of both sexes typically display a more masculinized behavioral phenotype in terms of systematizing/empathizing. These developmental theories are not necessarily mutually exclusive with the theories of ASD that attribute the etiology of the disorder to greater [[mutation|mutational load]].<ref>https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895441/</ref>
==Advanced parental age and mutational load==
==Advanced parental age and mutational load==
There is some evidence that increasing deleterious [[mutation|mutational load]] in the population, mediated by advanced paternal age and also possibly by reductions in natural selection due to industrialization and modern medicine, is contributing to the increase in global autism diagnoses.<ref>https://www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders</ref> This secular increase in autism diagnoses is likely not be entirely explicable by the broadening of the diagnostic criteria of autism or increased awareness of the issue.  
There is some evidence that increasing deleterious [[mutational load]] in the population, mediated by advanced paternal age and also possibly by reductions in natural selection due to industrialization and modern medicine, is contributing to the increase in global autism diagnoses.<ref>https://www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders</ref> This secular increase in autism diagnoses is likely not be entirely explicable by the broadening of the diagnostic criteria of autism or increased awareness of the issue.  


Iossifov et al. (2015) found that 30% of cases of autism in simplex families (where only one immediate family member has the condition) arises from ''de novo" (novel) mutations, often transmitted from the mother.<ref>https://www.ncbi.nlm.nih.gov/pubmed/26401017/</ref><ref>https://www.simonsfoundation.org/2015/07/27/autism-risk-genes-success-with-the-simplex-approach/</ref> Taylor et al. found that simplex cases of autism were typically more problematic as compared to multiplex cases (multiple family members affected).<ref>https://www.sciencedirect.com/science/article/abs/pii/S1750946714002943</ref> Advanced parental age at birth also heightens the risk of ASD in offspring, with a possible mediating role of greater paternal age heightening the incidence of ''de novo" mutations leading to ASD in offspring.<ref>https://www.sciencedirect.com/science/article/abs/pii/S0890856719301261</ref>
Iossifov et al. (2015) found that 30% of cases of autism in simplex families (where only one immediate family member has the condition) arises from ''de novo" (novel) mutations, often transmitted from the mother.<ref>https://www.ncbi.nlm.nih.gov/pubmed/26401017/</ref><ref>https://www.simonsfoundation.org/2015/07/27/autism-risk-genes-success-with-the-simplex-approach/</ref> Taylor et al. found that simplex cases of autism were typically more problematic as compared to multiplex cases (multiple family members affected).<ref>https://www.sciencedirect.com/science/article/abs/pii/S1750946714002943</ref> Advanced parental age at birth also heightens the risk of ASD in offspring, with a possible mediating role of greater paternal age heightening the incidence of ''de novo" mutations leading to ASD in offspring.<ref>https://www.sciencedirect.com/science/article/abs/pii/S0890856719301261</ref>
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