Exon Junction Complex

Autism spectrum disorder (ASD) may be a disorder in the brain, caused by genetic, environmental or neural levels. Autism effects data processing in the brain by alerting how nerve cells and their synapses connect and organize; how this occurs not understand. (Johnson.2004)

Autism is characterized as a neurodevelopmental disorder that affects social interactions, nonverbal and verbal communication, and restricted and repetitive behavior. On a global scale, autism was estimated to affect 21.7 million people in 2013, and the number continues to rise as time persists. Children are often diagnosed while they are infants, usually in the first two years of life, when parents notice odd behaviors such as assembling toys or stacking of objects. It is not yet well understood how autism occurs, but we do know that autism affects information processing in the brain by changing the way nerve cells and their synapses connect and organize. Autism is one of the three disorders that make up the Autism Spectrum, the second is

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

Park, H. R., Lee, J. M., Moon, H. E., Lee, D. S., Kim, B.-N., Kim, J., … Paek, S. H. (2016). A Short Review on the Current Understanding of Autism Spectrum Disorders. Experimental Neurobiology, 25(1), 1–13. http://doi.org/10.5607/en.2016.25.1.1

With the rate of autism being diagnosed on the rise, the amount of research and interest in the disorder has risen as well. Some research suggests that over the past two decades the occurrence of autism has increased from approximately 2-5 per 10,000 births to about 1-5 per 1,000 births (Acosta & Pearl, 2004; Fatemi et al., 2012). Still others report that the occurrence is as high as 1 in 150 kids (Amaral, Schumann, & Nordhal, 2008). Even though the spectrum of autistic disorders has been studied since 1943, there have still not been any consistent nor persuasive causes or markers, either biological or clinical, identified with autism and its range of disorders (Santangelo & Tsatsanis, 2005). In fact, even with all of the advancements in genetic research technology and the increasing interest in autism, researchers can still only account for approximately 5-15% of autistic cases (Rogers et al., 2013).

The genetics of neurodevelopmental disorders (NDD) rarely display a Mendelian mode of inheritance, and can result from a single rare gene mutation, more common variations in single nucleotide polymorphisms, or often a combination of these two factors in conjunction with environmental influences [1]. In contrast, epigenetic mechanisms are heritable changes in gene expression which do not change the DNA sequence [1]. Epigenetic changes to the genome may predispose the development of NDD when combined with the aforementioned genetic risk factors [1].

Autism spectrum disorder (ASD) is a neurodevelopmental condition that develops during a child’s first few years of life (Lesack, Bearss, Celano, & Sharp, 2014). This disorder occurs significantly more often in boys than girls (Goldstein, Naglieri, Rzepa, & Williams, 2012). Autism is part of a group that is known as pervasive developmental disorders (PDD), which also includes Asperger’s disorder, Rett disorder, childhood disintegrative disorder and pervasive development disorder not otherwise specified (PDD-NOS) (Sunita and Bilszta, 2012).

Autism Spectrum Disorder, known as ASD, is a range of complex neurodevelopment disorders, characterized by social impairments, communication difficulties, and restricted, repetitive, and stereotyped patterns of behavior. Autistic Disorder, referred to as autism or classical ASD, is the most common and severe form of ASD. Other less severe conditions along the spectrum include Asperger's Syndrome and Pervasive Development Disorder. Autism affects information processing in the brain by altering how nerve cells and their synapses connect and organize. It is not completely understood as to why this occurs. Autism has a strong genetic basis and in rare cases, it is strongly associated with agents that cause birth defects. According to the

Autism Spectrum Disorder, or ASD, is characterized by various symptomology ranging from inappropriate social behavior due to inability to experience and express situation-appropriate affect and lack of interest in other persons in general to repetitive, stereotyped behavior like insistence on routine, situation-specific actions, or obsessive focus on object-placement or sensory aspects of objects. There have been several attempted strategies at correcting these characteristics of ASD over the years, including cognitive-behavioral therapy (CBT) which focuses on thought process correction and behavior alteration,

Autism spectrum disorder, ASD, is a neurodevelopmental disorder characterized in the DSM-5 by early-onset, persistent social communication and interaction deficits and restricted patterns of repetitive behaviour that significantly impair important areas of functioning (American Psychiatric Association, 2013). Many treatments have been proposed to help reduce symptoms associated with ASD. However, very few of these treatments have presented convincing etiological backgrounds or been supported by empirical evidence (Bowker, D’Angelo, Hicks & Wells, 2011). This is particularly troubling given the profound negative effects associated with this diagnosis and the desperation for a cure or effective treatment that is often felt by the caregivers of

The last stage, stage four, the motor deteriorations stage of RTT is categorized by reduced mobility (Pohodich & Zoghbi, 2015). RTT falls under the autism spectrum disorder (ASD) as being neurodevelopmental debilitation, and is it the most incapacitating ASD classification because it is diagnosed almost entirely in females (Gadalla et al, 2011). Developing research shows that RTT is a consequence of a discrepancy in the development of the synapses in the brain, and that MeCP2 is important for the growth of synapses and neurons during development. Presently, researchers are trying to understand the mechanisms that mediate the phenotypic features of RTT.

With this form of Autism, people those diagnosed display difficulties with social interaction, communicate nonverbally, and have repetitive patterns in their behavior and interests. (Varun Warrier, et al., 2013) My proposal is to determine whether or not the GABRB3 gene will be “silenced” after the fish eggs have been injected with the RNAi. My hypothesis is that the GABRB3 gene will be

Researchers all over the world are devoting considerable time, and energy into finding the answer to the critical question, “What exactly causes autism?” Although a single specific cause of autism is not known, researchers believe several genes as well as environmental factors such as viruses or chemicals, contribute to the disorder. “But finding the genes that cause the disorder has proven far more complicated than originally thought” (DeNoon). Scientists estimate that, in families with one autistic child, the risk of having a second child with the disorder is approximately 5%, or 1 in 20, which is greater than the risk for the general population. This genetic basis is believed by researchers to be highly complex, probably involving several genes in combination.

Autism, like schizophrenia and mood disorders, includes many syndromes (Insel 2). Indeed, we should probably speak of the "autisms." Some of these autism's are single gene disorders, such as Fragile X, tuberous sclerosis, and Rett syndrome (Insel 3). While these rare genetic disorders account for less than 5 percent of children within the autism spectrum, children with any of these disorders are at high risk for autism, roughly a 30-fold higher risk than the general population and higher than any of the other known risk factors (Insel 3). Recent genomics research has discovered that many children diagnosed within the autism spectrum have other genetic mutations that have not yet been designated as named syndromes (Insel 4). Each of these mutations is rare, but in aggregate they may account for 10-20 percent or more of what we have been calling the autisms. Genetics will not identify the environmental factors, but it may reveal some of the many syndromes within the autism spectrum (as in other neurodevelopmental disorders), it can define risk (as in other medical disorders), and it should yield clues to the biology of autism (revealing potential targets for new treatments). In parallel we need to find environmental factors, recognizing that there will be many causes for the autisms and many roads to find them (Insel 3). Finally, an unavoidable insight from these new papers is that autism even when genetic may be

Autism Spectrum Disorder (ASD) is now described by the continual deficits in social communication, including, non-verbal communication, understanding relationships and the ability to reciprocate communication socially. In addition, the diagnosis of ASD includes the existence of restricted and repetitive behaviors (APA, 2013). The newly revised criterion has changed the way clinicians will have to diagnose individuals with impairments in regards to the aforementioned deficits.