Autism genetics, explained
نویسندگان
چکیده
منابع مشابه
Autism genetics.
Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic underpinnings. However, genetic contributions to autism are extremely heterogeneous, with many different loci underlying the disease to a different extent in different individuals. Moreover, the phenotypic expression (i.e., "penetrance") of these genetic components is also highly variable, ranging from fully...
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9q34.13 (TSC1) Hamartin, a growth inhibitory protein that negatively regulates the mTOR pathway Tuberous Sclerosis type I. (Liver and neural tube defects. Die by E12. Abnormal kidney and liver growth in heterozygotes. Variable brain structure, function and behavior abnormalities in conditional mutants. Die at various postnatal ages. Neuronspecific loss causes abnormal spine morphology and corti...
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Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic crite...
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Autism spectrum conditions (henceforth ‘autism’) refer to a group of neurodevelopmental conditions involving difficulties in social interaction and communication and unusually repetitive and restricted behaviours and interest. Twin and family studies have established a significant heritability for autism. Autism is polygenic with variations across the allele frequency spectrum contributing to r...
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The development of biomarkers for psychiatric disorders is particularly challenging, given the frequent clinical heterogeneity, and the subjective nature of symptoms which requires finely tuned quantification methods for accurate diagnosis. Yet the more clinically heterogeneous a disease, the more valuable becomes an objective measure of disease state or severity. While identifying biological m...
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ژورنال
عنوان ژورنال: Spectrum
سال: 2021
ISSN: ['2561-7842']
DOI: https://doi.org/10.53053/kxse3866