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Autism is associated with several genetic disorders, [4] perhaps due to an overlap in genetic causes. [5] 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.
Rett syndrome brain samples and autism brain samples show immaturity of dendrite spines and reduction of cell-body size due to errors in coupled regulation between MECP2 and EGR2. [62] However, because of the multigene involvement in autism, the MECP2 gene has only been identified as a vulnerability factor in autism. [63]
Brain sections related to autism. 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]
[291] [292] [293] A 2015 review proposed that immune, gastrointestinal inflammation, malfunction of the autonomic nervous system, gut flora alterations, and food metabolites may cause brain neuroinflammation and dysfunction. [292] A 2016 review concludes that enteric nervous system abnormalities might play a role in neurological disorders such ...
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.
The most common reason parents reported as the cause of lost ASD diagnosis was new information about the child (73.5%), such as a replacement diagnosis. Other reasons included a diagnosis given so the child could receive ASD treatment (24.2%), ASD treatment success or maturation (21%), and parents disagreeing with the initial diagnosis (1.9%).
Diagnosis of classic autism was based on behavioral symptoms, not cause or mechanism. [ 21 ] [ 44 ] The ICD-10 criteria for childhood autism postulate that abnormal or impaired development is evident before the age of 3 in receptive or expressive language used in social communication, development of selective social attachments or reciprocal ...
It is particularly important for regulation of genes involved in normal brain development, and it likely controls the activity of genes that direct the development and function of other body systems. [ 2 ] [ 6 ] These changes likely explain the intellectual disability, ASD features, and other diverse signs and symptoms of ADNP syndrome.