I. Introduction: Neurological disorders are complex in nature and often the least understood. Given the recent boom in imaging technology and other diagnostic methods, it is now possible to see more clearly into the scope of neurological development and accurately determine the etiology of these diseases. One of such disorders is Autism; a multifactorial condition impairing normal brain development. It affects many aspects of development, including social behavior, cognitive ability and communication skills1 and is commonly diagnosed in children before the age of three1. The symptoms of this condition can vary greatly between individuals; hence its classification as a spectrum disorder. Asperger syndrome, Rett syndrome and pervasive …show more content…
Mutations that occur during transcription are also linked to the expression of genes associated with Autism Spectrum Disorder. ASD candidate genes are genes normally related to synapse function, but when the enzyme topoisomerase is inhibited, the genes are not fully expressed4, factoring into the phenotypic expression of Autism. The individuals studied who were affected by ASD had a numerous amount of mutated genes relating to transcription function4. This result illustrates the relationship between transcription and the phenotypic expression of autism. Twin Studies also show that there is a strong genetic influence in autistics. In a study of 44 sets of twins, there was a high concordance rate of autism and other disorders on the ASD spectrum for monozygotic twins (92%)5. This suggests that the genetic similarity between MZ twins influences their risk of expressing Autism. Dizygotic twins however, had a much lower concordance5, supporting the hypothesis that there is a correlation between genetic similarity and Autism risk. According to the study, complications during pregnancy are not likely to be the cause of autism, but simply happen more often in twin pregnancies5. The association of severe brain damage in pregnancy and Autism has not been found in singletons5. In 29 cases of twins discordant for Autism, biological hazards associated with brain damage usually affected the autistic twin. This
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
UBE3A, GABA receptor genes, and RELN are among some of the genes explored in the article that are epigenetically regulated and express phenotypes in neurodevelopmental disorders that are related to autism and ASDs. Epigenetic regulation includes histone modification and both DNA methylation and DNA demethylation. In histone modification, DNA surrounds the proteins that can be phosphorylated or acetylated, or likewise, dephosphorylated or deacylated, which can cause the transcriptional process to be enhanced or prevented. DNA methylation and demethylation can add or remove a methyl group to a gene causing it to be either expressed or silenced. These effects can cause a gene to exhibit varying phenotypes. While some neurodevelopmental disorders have a clear genetic cause, or genetic etiology, autism can have varying phenotypic expression on different genes, as well as varying levels of expression. This shows that external factors affecting epigenetic regulation may play a role in how particular genes are expressed. The article also explores the theory of “intragenomic conflict”, and the influences of parent-of-origin genetic inheritance on autism and
Autism spectrum disorders (ASD) are a class of NDD affecting mostly males, which are largely idiopathic and display extensive variation in terms of phenotype, severity and degree of heritability [2]. It is postulated that the pathology of ASD is the result of a complex interaction between genetic predisposition and environmental risk factors, which disturb the developing brain [1]. ASD commonly involve deficits in social interaction and cognition, language, emotional learning and the presence of repetitive, stereotyped behaviours [1, 3, 4]. The brains of autistic children display reductions in long distance connectivity, abnormally regulated apoptosis and cell division, and increased inflammation [4].Additional studies have demonstrated gliosis, abnormal neuronal migration and
Symptoms typically are apparent before children turn 3 years old. (7). When individuals are born as an identical twin or have first degree relatives who have autism, they are automatically at a higher risk for developing it themselves. Other risk factors include immune dysregulation, altered short chain fatty acids, genetic mutations involving the metabolism of vitamin D, infections, teratogens, or antibodies maternally. For every 68 boys who are born, 1 will likely have autism, as boys are about five times more likely to present with autism than girls are. (3). When the brains of patients with Autism Spectrum Disorder are studied and compared with those who do not have the disorder, there are obvious differences. In the Autism Spectrum Disorder brain, there are alterations to the striatal circuits, a dysfunction in canonical neural circuits, and an abnormal basal ganglion connectivity. These striatal dysfunctions of the brain are evidence as to why abnormal behaviors occur in autistic patients (repetitive grooming, stereotypic motor routines, and deficits in social interaction and decision-making). There may even be evidence that links genetics to these specific neural circuits. (8). When MRI’s are taken on young autistic patients, the hyperplasia of their cerebral cortex can often be seen. Because the frontal and temporal lobes are important for social functioning and language development, these anatomical anomalies are likely to underlie the pathophysiology of autism.
A hundred years later, the term autism describes a neurodevelopmental condition that results in significant social cognitive and social communicative impairment. Current research is focused on identifying biologically distinct subtypes of autism. The belief is that once subtypes are understood advance can be made in regard to understanding cause and developing effective treatments. The ultimate goal of this line of research is to eventually find a cure and be able to prevent it.
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 (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 spectrum disorder (ASD) is a hereditary neurodevelopmental disorder. Like many other psychological disorders, it is commonly misunderstood in popular culture. Many allude to it casually, often equating it with crippling social awkwardness and disability when it is in fact a spectrum disorder with many degrees of severity. It is somewhat of an enigma within the scientific community as well; there are many things we do not know about ASD and there is ongoing research to learn more about the disorder. The purpose of this paper is to explain what is currently known about ASD: general facts, symptoms, prognosis, treatment, and demographics.
Secondly, autism is a highly inheritable disease. The Medical Research Council (MRC) based in the United Kingdom pinpoints that the genetic effect on autism ranges between 74 to 98% according to their study involving 258 twins (Hill et al. 15). They used both dizygotic and monozygotic twins raised within the same environmental setting by their parents. Dizygotic refers to twins that result from fertilization of two different eggs by two different sperms while monozygotic refers to twins that result from one egg fertilization by one sperm. The outcomes of the study indicate that if one identical twin suffers from the autism spectrum condition, there is approximately 76% probability that the other twin could be diagnosed with it (Biederman et al. 79). However, fraternal twins, a pair of twins of the same sex but not necessarily alike resulting from fertilization of two separate ova, exhibited a low prevalence rate. The proportion of fraternal twins with autism was 18% for girl-boy pairs and 34% for the same-sex twins (Jeste and Geschwind 77). This population-based twin illustration signifies the role played by genetics and most importantly opens up the likelihood of health practitioners getting a better understanding of the autism condition.
According to DSM-5’s classification, Autism Spectrum Disorder (ASD) refers to various types of autistic disorder, including Autism, Asperger’s Syndrome, Childhood Disintegrative Disorder and Rett’s Disorder (American Psychiatric Association [APA], 2013). Although all ASD patients may have the same inability in performing certain skills, they suffer from different degree of sth .ASD are the lifelong neurodevelopmental severity of the impairments that affect humans’ communication skills and social skills but the degree are varied amongst different patients (). Since the early life of autistic children, they started to display behavioural disturbances in social and emotion level (e.g. lack of interest in socializing), delay in language
The number of children diagnosed with autism spectrum disorders, commonly abbreviated as ASDs, is gradually increasing. Today, about one in sixty-eight children have been diagnosed with one of these four disorders, which is a huge increase from one in one hundred fifty, as seen in 2000 (“Data & Statistics” 1). ASDs often coincide with other developmental, psychiatric, neurological, chromosomal, and genetic diagnosis, such as an intellectual disability, attention-deficit hyperactivity disorder (ADHD), epilepsy, Down syndrome, or cystic fibrosis (“Data & Statistics” 1). The four different types of ASDs are autistic disorder, also known as classical autism, Asperger’s syndrome, pervasive developmental disorder, not otherwise specified (PDD-NOS),
Autism remains one of the world’s mysteries: It’s cause is unknown, but it is said to be an abnormality in the genes of the brain. Autism spectrum disorder (ASD) is a physical condition linked to abnormal biology and chemistry in the brain (Ross G. 1). All that we know right know for a fact is that people who have autism have an abnormality
Autism Spectrum Disorders (ASD) refers to a group of developmental brain disorders that affect a child’s cognitive, behavioral, and social abilities (American Psychiatric Association, 2013). There are several forms of ASD that have different impairments and levels of severity. Recent research has been looking at the increased prevalence of ASD and possible causes of this increase.
Both autism and autism spectrum disorder are general germs for a group of complex disorders of brain development. These disorders are usually characterized by various degrees of difficulties in verbal and non-verbal communication, social interaction, and repetitive behaviors. Autism is associated with difficulties in motor coordination and attention, intellectual disability, and physical health issues which include gastrointestinal and sleep disturbances. However, some individuals with autism spectrum disorder may excel in music, art, math, or visual skills. The causes of autism appear to have roots in the early development of the brain, although its most obvious signs tend to appear between the ages of 2 and 3 years old. Studies have
The current focus in Autism Spectrum Disorder research is to identify a molecular genetic variation that contributes Autism Spectrum Disorder susceptibility. Several genetic Autism Spectrum Disorder studies have confirmed that the chromosomal abnormalities related to autism often are present in other