Autism Spectrum Disorder (ASD) includes a spectrum of symptoms hindering the developmental process. Thus it is important to be able to pinpoint ASD immediately due to the communicational barriers between the child and caretaker(s). There was a study demonstrating that vocalization of infants with ASD and mouse models of ASD as a possible way to identify autism spectrum disorder before the symptomatic elements of autism spectrum disorder emerge. In theory, their results include atypical early vocal calls representing an early biomarker for autism spectrum disorder and thus this will help assist with early detection.
It is also a causative factor in the development of the disorder more specifically atypical crying might induce a “self-generated environmental factor” that in turn influences the prognosis of the disorder. Furthermore, due to atypical crying patterns associated with autism spectrum disorder, the quality provided by the caregiver(s) may be negatively affected. Understanding autism is key to identifying it as early as possible for the child to get the help needed if necessary. Alterations of a distinct set of multiple, disajoined genes encoded in this chromosomal region, in agreement with impacts of genetic background and environmental factors, variably shift the probabilities of phenotypes along a predetermined developmental path. Recently discovered genome-wide rare copy number variants (CNVs) have significant levels of statistical association with many developmental neuropsychiatric disorders, including schizophrenia, autism spectrum disorders, intellectual disability and attention deficit hyperactivity disorder. However, as CNVs often include multiple genes.
Furthermore Tbx1, a 22q11.2 gene, transcribed at a relatively constant rate unphased by environmental factors, would have an impact on the behavioral phenotypes of ASD and characterized the regional and cellular expression of its mRNA and protein in mice. The data suggested that Tbx1 is a gene responsible for the phenotypes of 22q11.2 hemizygosity-associated ASD possibly through its role in diverse cell types, including postnatally and prenatally generated neurons. To provide better evidence on various environmental factors influencing the severity of ASD, a genetically triggered neonatal phenotype in vocalization generated a negative environmental loop in pup–mother social communication. Prior research has revealed that there are a number of rare copy number variants (CNVs) have emerged as robust genetic risk factors for ASD, but not all CNV carriers exhibit ASD and the severity of ASD symptoms varies among CNV carriers. The autism spectrum disorder risk gene changes the infant call patterns of its carriers which diminishes maternal care through atypical communication patterns.
Thus, an ASD risk gene induces, through atypical infant call sequences, less than optimal maternal care as a negative infant environmental factor. Lagged working memory during developmental maturation can be linked to ASD. In addition, adolescents with deteriorating cognitive and working memory can be at risk of schizophrenia later on. Less developed working memory which is correlated to IQ can be linked to intellectual disabilities.
COMT has also shown signs of helping maturation of the working memory increasing its capacity. With the use of male mice with a fluorescent protein that can be monitored and their memory being assessed through various tasks and some were tested on motor skills. The data supported that these genes will alter the developmental trajectory of working memory capacity in the hippocampus. The proportions of the annexin v cells were indistinguishable among the groups indicating that COMT and Tbx1 overexpression reduced the increase of adult neural stem cells in a cell-autonomous manner without altering the regular rate at which the cells die as part of normal growth and development. On a different spectrum, Schizophrenia has been called to question throughout the years with multiple studies researching what causes it. Schizophrenia interferes with one’s ability to think, feel and behave clearly which also creates communicational barriers with others as they seem as if they’ve lost touch with reality.
A study attempted to pinpoint the probable cause of schizophrenia and concluded that it could being with a genetic predisposition later evolving to neurodegeneration and chronic schizophrenia. However before it develops to that severity, the person with a genetic predisposition will have neurodevelopmental brain abnormalities abnormalities, also known as schizotaxia, along with neurocognitive and social dysfunctionality. But this is influenced by early environmental stimuli. This will later develop into prodrome and onset of psychosis, schizophrenia again with the pressure of later environmental insults. Lastly, it’ll reach its maximum severity of evolving into neurodegeneration and chronic schizophrenia with the influence of the toxic effects of psychosis.
Furthermore, copy number variants (CNV) may also increase susceptibility to schizophrenia. CNVs with major risk factors are likely to already be eliminated from the population due to natural selection however the de novo CNV mutation has shown significance in this study. In a systematic analysis of synaptic protein complexes, de novo CNVs were significantly enriched for the PSD proteome which can be explained by enrichment of the N-methyl-D-aspartate receptor (NMDAR) and neuronal activity-regulated cytoskeleton-associated protein (ACR) postsynaptic signalling complexes. These defects in NMDAR postsynaptic signalling complexes and, possibly, ARC complexes, which are very importantt in synaptic plasticity and cognition, play a significant role in the pathogenesis of schizophrenia. There are known memory deficits linked to schizophrenia. The two major memory system affected are working memory and episodic memory. It seems that some of the activation abnormalities are shared in both memory systems.
This suggests common neurophysiological underpinnings of working memory and episodic memory deficits in patients with schizophrenia. Dynamic changes occur in functional networks in response to underlying abnormalities in schizophrenia but that these resulting networks are dysfunctional. The above mentioned have discussed the communicational issues and the effects of the copy number variant and the Tbx1 gene. However this study will research how genes that determine autism are interconnected with genes which determine schizophrenia.
It will aim to identify most, if not all, genes responsible for autism and schizophrenia. I hypothesized that there will be similar variations of genes dictating common symptoms between the two. This research will dictate if and how genetic factors responsible for autism are correlated to those of schizophrenia.