Autism and related disorders of the constellation are autistic syndromes behavioral alterations, including verbal and emotional and social interactions, and restricted interests and activities and stereotyped, beginning before 30 months (WHO, 1992; APA, 2000), and the consequences of disabling the social usually lasting throughout life. It is also recognized that these disorders have a prevalence of 0.6% (Fombonne, 2002), and thus constitute a problem major public health worldwide.
Despite an international consensus to consider these syndromes as phenotypic expression of early alterations more or less central nervous system, many questions remain about the patho physiology and étiopathologie these conditions and their treatments are disappointing because they lack specificity (Gepner & Tardif, 2003).
Other controversies that are common and associated with autism are surrounded with different proposed environmental issues like pesticides, heavy metals, vaccines, especially those vaccines that belong to the early age or childhood. However, the hypotheses of vaccine are implausible biologically and do not have sufficient scientific evidence or proof. (Rutter, 2005)
It means that the symptoms of ASD cannot be matched exactly between or among different individuals. Besides that, because of facing different combinations of symptoms, some individuals and group of individuals may have mild while the some other may have severe symptoms. (Medicalnewstoday, 2010)
It is usually pointed out (Gepner, 2005), that the enigma of autism itself persists for several reasons, some of which are briefly summarized. There is no autism, but a constellation of neuro developmental disorders relatively complex and heterogeneous called pervasive developmental disorders or spectrum disorders autism (Rapin, 2002), located along a continuum (Grandin, 1995). There is not a cause of autism, but a multiplicity of risk factors genetic, epigenetic and environmental (pre-, peri-or post-natal) in proportion variable (Persico & Bourgeron, 2006). There is no ASD mechanism, but many complex physio pathological mechanisms involving different levels of organization, increasing complexity and integration (Neurobiological, neuro physiological, neuropsychological), and affecting many neuro functional entangled and interconnected systems (Gepner, 2006). There is no single autistic disorder, but different neuro developmental disorders co morbid conditions associated with ASD (mental retardation, epilepsy), and that there are overlaps between the clinical and nosographic disorders and autism other neuro developmental disorders or neuropsychiatric, such as attention deficit with or without hyperactivity, dys-syndromes (aphasia, dyslexia, dyspraxia ...), or obsessive-compulsive disorder (2003; Gepner and Tardif, 2003). Finally, A psychological profile is not typical of autism, but emotional reactions and various psychological disorders(depression, anxiety, panic, anger, inhibition, distress ...) that influence and color the character, personality and behavior of such a person with autism in a particular way (Gepner & Tardif, 2006). New advances in the understanding and treatment of these conditions complex will emerge from a deeper level of organization of each Central Nervous System (genetic and epigenetic, neurobiological, neuro physiological, neuropsychological), but also undoubtedly interactions between these different levels. In this paper, we compare and combine data from multiple disciplines, namely genetics, neuropathology, neurophysiology, neuro imaging and science cognitive, and we propose a scenario linking the behavior to developmental genes. The purpose of this paper is to provide a full description of some waterfalls mal developments between genetic abnormalities in their clinical cases of ASDs. We will go back from the waterfalls mal developmental behavior observable counterpart to their genetics.
As far as Autism’s prevalence is concerned, it is about one per one thousand people. Studies revealed that
The prevalence of ASD is about 6 per 1,000, with about four times as many males as females. The number of people diagnosed with Autism has increased dramatically since the 1980s, partly due to changes in diagnostic practice; the question of whether actual prevalence has increased is unresolved. (Newschaffer, Croena and Daniels J, 2007)
Several analyses have been done and many are still in progress. For every autistic disorder mutation in more than single gene may be implicated. Mutations in different genes’ set may be involved. There could be important connections among mutations in numerous genes, or among the environment and mutated genes. By pointing out the genetic markers that are inherited with autism in studies of family, many candidate genes have been located; most of them encode proteins involved in neural function and development.
On the other hand, the real mutations that cause to increase the risk of autism has not been recognized. Characteristically, autism cannot be linked to single chromosome abnormalities such as fragile X syndrome or to single-gene mutation. (Muller, 2007)
Some people may be genetically inclined to autism while others are not. Some of them never exhibit symptoms because they have no history of belonging to genetic vulnerabilities. While some other people may become the victims of autism because of environmental issues like vaccines etc; however, vaccines are not entirely responsible but their combination in the genetic predisposition may cause autism.
The exact nature of the diathesis involved in causing autism is not clear at this time. What is known at this time is one of the pathways for vulnerability to autism likely to involve genetically inherited biological predisposition.
The genetic control of autism is highly active research area. A rich source of data is available from the Autism Genetic Research Exchange (AGRE), a collection of clinical data and DNA from families with at least one affected person. Combined with quickly improving technology, a huge amount of genetic data attempting to describe autism has emerged. Varieties of genetic abnormalities have been found in autistic peoples, and affected individuals in the similar family tend to carry the similar genetic irregularity.
The great number of genetic irregularities found in families with at least one autistic person has led to a theory that there are numerous genetic loci that contribute to the autism phenotype. Patterns of inheritance and the observation that some persons show subtle symptoms, propose that general forms of ASDs are the outcome of multiple genes, which when abnormal in a person, contribute small increase of risk to that person. Those persons who inherit many of the atypical genes will show more severe ASD symptoms, yet will possibly not pass on the great number of abnormal genes that they bear because of low reproductive issue. Those persons who inherit fewer of the atypical genes will be only slightly affected for ASDs, but will be reproductively healthy enough to pass on the abnormal genes that they have, perpetuating the occurrence of the atypical genes in the population.
An alternate theory describes the inheritance of autism as an outcome of de novo mutations, i.e. mutations that sporadically happen, in the parental germ line (cells that ultimately produce egg and sperm). The de novo mutations could occur in any of the genes that critical for autism. Children of parents with affected germ lines are at risk for autism, but for mysterious reasons, Ladies are more resistant to the atypical gene, and show less severe symptoms, explaining the increase rate of autism’s incidence in males. Females having the atypical gene who show few symptoms are reproductively healthy enough to overcome the abnormality to their offspring, who in turn are in jeopardy for developing the disorder.
Diagnoses of autism have improved in the past decades, but it is significant to note that the augment is attributed to a wider definition of ASDs and improved recognition on the part of physicians of autism signs. (AMA, 2007)
Another difficulty in identifying the genetic origin is the lack of pedigree of the families. With sophisticated statistical techniques and numerous twin studies, behavioral geneticists now believe that as much as 90 percent of the behavioral phenotype of autism is connected to inherited genes. Such a high genetic contribution appears to be the exception rather than the rule when considering complex behaviors. This is probably because a relatively small number of genes may be involved in autism (but certainly more than one), whereas other behaviors may be influenced by many genes.” (Dougherty, 2000)
According to the latest study that confirms the theory, with co-author Stephen Scherer statements “most individuals with autism are probably genetically quite unique."
This study compared 996 children’s DNA who had autism against a group of 1,296 children who was normal. Researchers focused on a kind of genetic change known as CNVs (copy number variations), place where DNA is either lost piece or has additional copies of sequences around and inside the genes. The scientists identified unusual genetic variations that were 20% more common in children with autism than in the normal children. These CNVs arise in less than one in 100 people generally. Some of the CNVs were presented at birth while others were found only in children. This study brings researchers a step nearer to classify the autism as a purely genetic disorder and not one affected by early-days’ vaccines. (Brady, 2010)
In any kind or type of research it is the methodology that plays an important role in identifying the different ways and dimensions through which the research on kind of issue can subsequently be molded into. An effective methodology comprises of different parts and components which include first and foremost the defining of the problem that is being discussed in the research.
The problem being discussed during the course will be dependent upon the different ways in which the disorder of autism affects people. In context of the problem that is identified the next stage involves the formulation of an appropriate hypothesis that conforms to the research that is being conducted regarding the subject. Even though the formulation of hypothesis may comprise of various stages, however in this type of research which will be of qualitative nature there are different variables that are brought under consideration. (Dougherty, 2000)
Next stage involves other steps in which ways for data collection and designing of research are formulated in accordance to which the subsequent steps of the research methodology are finalized and planned. It is during this stage that the different research tools and methods are utilized each of which has its specific importance in terms of contributing effectiveness to the entire research that is being conducted. In subsequent stages of the methodology the data that has been collected and gathered with the help and utilization of these research tools are analyzed and evaluated in order to figure out and reach upon the final stage of conclusion where the hypothesis will either be accepted or get rejected.
Apart from the fundamental steps that are involved in the methodology it is also important to outline the ways in which these salient features of methodological application can be applied into the context of autism and the research problem related to the disorder that is being analyzed.
The key question that is being discussed in the research revolves around the different type of effects that the disease of autism has upon different people that suffer from it. It is basically the effects of the disease that will be assessed and analyzed in the different phases of the entire discussion. Since the multitude effects and their manifestations upon the human body constitute an integral portion of the entire study, it is therefore important that this aspect must be differentiated upon grounds upon which it can easily be evaluated and analyzed. (Gepner, 2006)
This can be done by analyzing the patients of autism which have been segregated upon the basis of their different ages. Upon the basis of the difference of age the different effects of the disorder and the subsequent manifestations that it has upon the human body can be very carefully studied and understood. After all these stages are finalized the moment then arrives of selecting the appropriate research tool through the help of which the process of data collection.
One of the most appropriate tools and components that can be used for successfully conducting this research is with the help of questionnaires. Even though along with questionnaires there is also a number of other tools that can be utilized, but the importance of questionnaires remains consistent. However the different research tools will be discussed in subsequent phases of the research. It is also important that the advantages of questionnaire and its effectiveness in the research process are highlighted.
Questionnaire is a very efficient and cost effective tool of data gathering, especially when the sample size is large. It is also lot less costly as compared to semi-structured, face –to – face interviews or focus group interviews. Numerous software tools are available to analyze and tabulate survey questionnaires, which is an added advantage of questionnaires. Questionnaire is a common way of collecting people’s opinion; hence, majority of the people are aware of it and usually do not hesitate to fill survey questionnaires.
As questionnaires provide people’s opinion directly, so, there are neither any middle-man biases in questionnaires nor researchers point of view influence public opinion. The questionnaire prepared can be used to register the opinions and perspectives of a number of people who are related to the field of medicine and healthcare.
This can encompass doctors, specialists and even nurses with the help of which the different effects of autism on the human body and the subsequent age groups for identifying their effects can easily be studied and assessed. It is important that the researcher conducts the research by selecting an appropriate sample size around 50 or 100 all of which are members of either a medical institution or have earlier suffered the disease. With the help of such steps the research can be provided an authentic and credible stance.
Recommendations and Conclusion
From the different findings that have been obtained it has been authenticated that the disorder of autism affects individuals in different ways and hence its manifestations upon the human body are subsequently determined.
However it is also important to consider the curative or prophylactic measures that can be applied for treating the disorder. There are many intensive programs that have been initiated and launched for the development of children through the help of which they are able to develop proper language and development and are able to overcome their mental and physical deficiencies. In addition to this there are also a number of different medications that are used for the treatment of this disorder.
In fact the different type of medications that are employed for the treatment of autism along with other counseling programs with which the disease is treated can also be used to initiate a different research study in which the effect of different medications upon patients of autism in different age groups can be analyzed and assessed subsequently. (Allison, 2000)
With the help of such research studies and discussions the nature of medication and the age limit to which it can successfully be used in the curing of the disease can easily be determined. Along with this another recommendation that can also be implemented in relation to autism is the financial aspect related to the curing of the disease.
It is generally said that the treatment of autism is quite expensive, hence through the incorporation of the different financial expenditures that are involved in curing or treating the disease in different medical institutions and the ways through which in a way which can make the treatment of the disease cost-effective and manageable especially for people who cannot afford such an expensive treatment related to the disorder.