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Disorders And Abnormalities Associate With Autism

1312 words - 6 pages

Neurological Aspects:
Autism is a complex neuronal developmental disorder with the number of cases has risen rapidly over the past decade. Autistic behavioral characteristics emerges early in childhood, which include abnormal social interaction and repetitive behavior, with symptoms (American Psychiatric Association, 1994). The autism phenotype also includes impaired motor function (Baranek, 2002), mental retardation and seizures (Gillberg and Billstedt, 2000). Apart from these anxiety (Muris et al., 1998) and sleep disorders (Gillberg and Billstedt, 2000) are also associated with autism. Further, autism results in increased head size and brain volume (Piven et al., 1997; Bailey et al., 1998; Courchesne et al., 2001), decreased volume of hippocampus, amygdala, and corpus callosum (Piven et al., 1997; Aylward et al., 1999; Saitoh et al., 2001) and decreased numbers of Purkinje cells in cerebellum (Bailey et al., 1998; Palmen et al., 2004). It has also been reported that frontal and temporal cortex showed abnormal activity in autism (Happe et al., 1996; Schultz et al., 2000).
Mechanisms underlying autism have been extensively studied using various approaches but none of them correlates the disease etiology to a practical significance. Macrocephaly, overgrowth of the brain has been observed in autistic children (Bolton et al., 2001; Courchesne,2002; Courchesne et al., 2003, 2007; Fombonne et al., 1999; Hazlett et al., 2005). Impaired cytoarchitectonics in the parieto-temporal lobe, frontal lobe, cerebellum, and subcortical limbic structures has been observed in autistic brain (Fombonne et al, 1999; Bolton et al., 2001; Courchesne et al., 2002, 2003, 2007; Hazlett et al., 2005). Autism shows anatomic abnormalities in the cerebellum with hypoplasia, reduction in the number of cerebellar purkinje cells and cerebellar activation (Courchesne, 1997, 2002). Selective deletion of Tsc1 (tuberous sclerosis 1) in cerebellar Purkinje cells resulted in autism-like behaviors in mice (Tsai et al., 2012). The cerebral cortex is another brain region frequently affected in ASD with abnormal enlargement or hyperplasia (Sparks et al., 2002; Herbert et al., 2003). In addition, the amygdala and hippocampus are subcortical brain regions associated with ASD (Aylward et al., 1999; Schumann et al., 2004; Schumann and Amaral, 2006). Although various neuroanatomical defects are observed in autistic brains, a direct relationship between neuroanatomical peculiarity and behavioral manifestations of ASD remains unclear. Delineation of the detailed circuitries underlying autistic behaviors would help us understand higher cognitive functions, such as language and sociability. It has been found that growth factors and neurotrophic factors are associated with ASD. WNT2, a growth factor that regulates embryonic development, dendrite branching, cellular differentiation, and cell-polarity generation (Logan and Nusse, 2004), has been implicated in ASD (Vincent et al., 2000; Warburton et...

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