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Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. [1] It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception. [ 2 ]
Many causes of autism, including environmental and genetic factors, have been recognized or proposed, but understanding of the theory of causation of autism is incomplete. [1] Attempts have been made to incorporate the known genetic and environmental causes into a comprehensive causative framework. [ 2 ]
Autism has multiple causes. This article focuses on heritable causes. The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis.
The amygdala, cerebellum, and many other brain regions have been implicated in autism. [15]Unlike some brain disorders which have clear molecular hallmarks that can be observed in every affected individual, such as Alzheimer's disease or Parkinson's disease, autism does not have a unifying mechanism at the molecular, cellular, or systems level.
About 10–15% of autism cases have an identifiable Mendelian (single-gene) condition, chromosome abnormality, or other genetic syndrome, [6] a category referred to as syndromic autism. Approximately 8 in 10 people with autism suffer from a mental health problem in their lifetime, in comparison to 1 in 4 of the general population that suffers ...
An adult autism diagnosis is an identity builder, minting new members of a growing community and creating a sense of belonging for those grappling with loneliness. For adults, autism diagnosis can ...
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [ 12 ] [ 23 ] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [ 12 ]
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]