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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.
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 role of genetic influence on ASD has been heavily researched over the past few years. ASD is considered to have polygenic traits since there is not a single risk factor, but multiple ones. [9] Multiple twin and family studies have been conducted in order to observe any genetic influence in diagnosing ASD.
Special interests were later one of the traits listed when autism first appeared in the DSM-III in 1980. [2] In 2024, special interests are listed as a diagnostic trait of autism in the current DSM-5-TR, described as "highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with ...
Autism spectrum disorder (ASD) is referred to as syndromic when it is one of the many characteristics associated with a broader medical condition, generally a syndrome. Syndromic autism represents about 25% of the total ASD cases. [4] [5] In most [quantify] cases, its etiology is known. [2] [4]
Multiple processes are hypothesized to explain different autism spectrum features. These hypotheses include defects in synapse structure and function, [ 1 ] [ 2 ] reduced synaptic plasticity , [ 3 ] disrupted neural circuit function, gut–brain axis dyshomeostasis, [ 4 ] [ 5 ] [ 6 ] neuroinflammation , [ 7 ] and altered brain structure or ...
The E–S theory has been extended into the extreme male brain (EMB) theory of autism and Asperger syndrome, which are associated in the E–S theory with below-average empathy and average or above-average systemising. [6] Baron-Cohen's studies and theory have been questioned on multiple grounds.
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 ]