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This variant confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability. [1] It is the most common genetic cause of autism, accounting for approximately 1-3% of cases. [2] Dup15q syndrome includes both interstitial duplications and isodicentric duplications (i.e., Idic15) of 15q11.2-13.1.
Most parents report that the onset of autism features appear within the first or second year of life. [11] [12] This course of development is fairly gradual, in that parents typically report concerns in development over the first two years of life and diagnosis can be made around 3–4 years of age. [9]
Identical twin studies put autism's heritability in a range between 36% and 95.7%, with concordance for a broader phenotype usually found at the higher end of the range. [28] Autism concordance in siblings and fraternal twins is anywhere between 0 and 23.5%. This is more likely 2–4% for classic autism and 10–20% for a broader spectrum.
Autism spectrum disorder [a] (ASD), or simply autism, is a neurodevelopmental disorder "characterized by persistent deficits in social communication and social interaction across multiple contexts" and "restricted, repetitive patterns of behavior, interests, or activities". [11] Sensory abnormalities are also included in the diagnostic manuals ...
The paternal age effect is the statistical relationship between the father's age at conception and biological effects on the child. [1] Such effects can relate to birthweight, congenital disorders, life expectancy, and psychological outcomes. [2]
The risk of developing autism is increased in the presence of various prenatal factors, including advanced paternal age and diabetes in the mother during pregnancy. [8] In rare cases, autism is strongly associated with agents that cause birth defects. [9] It has been shown to be related to genetic disorders [10] and with epilepsy. [11]
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Classic autism, also known as childhood autism, autistic disorder, or Kanner's syndrome, is a formerly diagnosed neurodevelopmental disorder first described by Leo Kanner in 1943. It is characterized by atypical and impaired development in social interaction and communication as well as restricted, repetitive behaviors, activities, and interests.