Advances in Autism Genetics - Essay Example

Advances in Autism Genetics Introduction: Autism is a disorder not a disease that affects many areas of human development such as speech, communication, interaction with others and imagination. This disorder typically appears during the first three years of life affecting not only the autistic person, but also his family. Having a child diagnosed with autism can be a devastating experience for many parents and although there is no cure, there are treatments that can help autistics and their families overcome the challenge. Autism finds a crucial area of study in child psychology. Child psychology is taken as the common umbrella that covers the interdisciplinary science of studying the child in systematic ways. Certain psychological disorders occur in human beings due to specific situations or circumstances. However, often a child might begin to reflect certain abnormalities right from the childhood and is apparently born with the disorder. Some psychological disorders initially diagnosed in children encompass psychological and genetic components. Disorders caused by biological and psychological problems are usually identified early in life, usually within the first three years, though some of these problems are not identified till adulthood. Problems like Mental retardation, learning disorders, communication skills disorders and pervasive developmental disorders (such as autistic disorder) appear to have biological components. (Arndt, Stodgell, Rodier, 2005, 189-99) Autism and symptoms: Autism is a psychological disorder in children that causes them to behave or act in a way that in unique to the other normal kids. It arises from brain development problems. The problem can also be called Autistic spectrum disorder (ASD), Pervasive developmental disorder (PDD). The symptoms are usually observed when a child is very young, less than three years. In a nutshell, the signs observed are impaired social interaction and communications, repetitive and restricted behavioral patterns. (Rutter, 2005) For such children it is usually difficult to communicate with their surroundings in a normal manner. They often get stuck while speaking and find difficulty in expressing themselves via words. What makes them unique is their ways of reaction to certain situations. Their responses to touch, words and movements are often abnormal. A gentle touch might arouse discomfort while normal sounds may induce them to cover their ears. Connecting with feelings is another problem for such children. While a normal child knows to smile when he is happy, a child with autism may not know and response in a normal way to normal circumstances. He may flap his hands to show his happiness instead. Such children basically stay in a world of their own making. Linking words with their meanings is serious problem for such children. While a normal child would know what his mother is trying to tell him, a child with autism shall perhaps get a different message from the same set of words. Thus it is frustrating for the mother to guide the child. A child with autism usually does not like to be disturbed from their daily routine. If he prefers one particular toy, he would like to stick to it and not look at the other toys around him. Such a child might undergo temper tantrums and repeat a word or sentence in order to express himself. These are sometimes accompanies with motor problems like poor muscle tone, toe walking and poor motor planning (inability to carry out purposeful actions or movements even after having the will and physical capacity to do so). Our day-to-day activities require the brain to function in a particular way to certain situations. Our brain interprets sensations of sights, sounds, and smells in a certain manner. If the brain cannot receive or respond with proper signals then the person cannot carry out normal activities in a desirable fashion. Therefore such a child will face difficulty in attending school, playing sports and even interacting with other kids. A child may be lightly affected by autism or deeply affected and the reactions and impact would be reflected accordingly in the child. Causes: This is one area, which cannot be determined with certainty. Usually the problem is denoted when a child is quite young but as far as the reason is concerned, parents and doctors cannot always explain it with certainty. Hence this area is still being researched. Researchers often argue that the causes are not definite because the problem is essentially a culmination of more than one disorder. Since people with autism can have very different features or symptoms, health practitioners interpret autism as a "spectrum" disorder. Heredity is a major cause behind such disorder. The problem of autism can be mainly explained by genetic reasons. Autism affects about 1 in every 150 kids, knowing the exact cause of autism is difficult because the human brain is very complicated. While the brain may contain around 100 billion neurons or nerve cells, each nerve cell may bear several connections with other nerve cells in the brain or body. These connections cover different areas of the brain, the areas that assist us to see, hear, speak or move. Some times, certain cells, tissues and connections in the brain do not develop properly or is impaired. However scientists are carrying on their attempts to understand the reasons and process of occurrence. (Abrahams and Geschwind, 2008) Diagnosis: Denoting the presence of autism in a kid is often difficult. Usually parents are most liable to suspect the problem in their child. Often it may be found that the child is matured enough in age to speak but actually does not talk or it may so happen that the kid does not take part in social gathering or not interested in people. The behavior of the child might be unusual in different ways and if a parent is a close observer he or she is sure to realize the difference from the other normal kids. However the catch lies in the fact that such abnormalities may be observed even in cases where a child has other problems like that of speaking and hearing, i.e., certain physical disorders. Now, to diagnose whether these symptoms are due to autism or any other problem is the main concern. (Cohen, Pichard, Tordjman et al. 2005) Medical and laboratory tests are conducted to test the child for autism and doctors may carry these out to see whether the problems are due to autism or something else. The tests may range from blood or urine tests, ECG (to measure brain waves) and MRI (this involves an image showing the brain structure. Some IQ or general intelligence tests might be of great help in the diagnosis. Health specialists may work in team in order to denote the exact problem. This team may consist of a child psychiatrist, child psychologists, speech therapists, pediatrician, a pediatric develop mentalist and other technicians and specialists. The team’s responsibility encompasses careful listening to the parents’ observation. The team members should themselves observe closely how the child communicates, moves and behaves. Only the right information and interpretation can help the medical practitioners to correctly diagnose this sensitive problem. Treatment: There is practically no cure for autism and a child suffering from the disorder would grow up with the same. However treatment definitely helps. Parents, special teachers, doctors and therapists can help the children overcome the problems or adjust to the difficulties faced in their daily lives. Though a kid bearing this disorder would require different kinds of help, learning to communicate is a crucial first step taken. It is often difficult for kids to learn spoken language and most of these children understand the words by seeing them, i.e. through visualization. Therapists might help them by pointing out to images and colorful printed words. Thus a system of sign language should help these children. This enable them to learn other things faster and easier, thus most kid with autism begin to learn talking. Therapists are also responsible to teach these children how to become social and demonstrate social manners. They need to learn how to greet people, incorporate ethics in their behavior and become disciplined. This may range from a simple activity like brushing of teeth or making a bed to mugging up a history lesson. The specialists teach all these. This encompasses training towards control of temperament and modulating their behavioral pattern to conform to the social norms. Sometimes kids are given medicines to overcome such problems, but in case of autism there is no effect of any medicine. Sometimes children with a less severe problem may go to school regularly but most children need a quieter environment to utilize their potential to the optimum. Also, special education are often needed by these children where the support systems would be able to understand their problems and communicate with them in a way comprehendible by the kids. Sometimes special classes taken at home or private schools might help them, especially because it will save them from any chance of humiliation while studying with normal children. While some children with milder form of autism may grow up to live a normal life, others with a more severe problem would always need special care around them to be able to live a normal life and have a bright future. Such children are happier when they have caring teachers, understanding doctors and relatives to accompany and communicate with them. Social working groups have also come forward to assist such victims. (Leskovec, Rowles, Findling, 2008) Some problems in the path of the remedial measures It is very obvious that the victims of autism would require special education rather than formal education in a normal school. However, this is usually expensive and in many cases parents are not much interested to send their kids or rather spend so much on them. They are often under the hesitation whether such education will at all help the child. Also, finances involved are another crucial aspect. The social workers’ organizations, NGOs and the government itself need to provide the required support to the parents. Otherwise the special teachers might be de-motivated easily this result in high attrition rates of the teachers in such special schools. It is often found that children with autism receive adequate care till their school leaving age but in the course of entering further educational courses, they are bereft of enough support. However these children form great attachment with their primary caregiver (Sigman, Dijamco, Gratier and Rozga, 2004). Children affected with the problem of autism do need special teachers, special methodologies and sometime special environments. The special methods include good child-focused teaching practices, which would even benefit all children, including those without disabilities. Parents often feel it is the responsibility of the institute and the faculty to train them and hence do not guide their students at home. The limited hours spent in teaching in the schools, go to waste as the domestic environment might use these children as productive investment for their family and hence made to do base work. The environment at home might not be encouraging enough so as to motivate the children towards a higher grade or better performance as it happens in case of normal students. (Rutter, 2005) A Case study: Name: D.T. Sex: Male; Age: 10 years Problem: Autism, seizure disorder Symptoms: D.T. was verbal with limited language skills. He could sing in complete sentences (echolalia) but communicated using one or two word phrases. Communicated mostly by pointing. When he did speak, his enunciation was poor except when he was angry at which time the word would be clear. He displayed self-stimulatory behavior in the form of rocking, hand turning, and hand flapping. His sleep was good but he was defiant and unable to calm down at bedtime. He showed no interest in other children and his eye contact was poor. His seizures began at age two. He was taking medications for seizures and experienced one every ten to fourteen days. Improvements after treatments According to his mother’s report after five weeks, the child was demonstrating more care towards others while the therapist found him talking clearer. This was apparently due to imitating other children’s facial expressions and speech. He was beginning to use a few word phrases. As his attention span widened, he was able to pick up his lessons, listened to recording and calm himself. After twelve weeks he showed further improvements. His teachers reported improvements in his language skills, responsiveness, memory capacity and level of perception. Gradually he was enrolled in a normal classroom and doctors began to take him off medication. His seizures practically stopped, social skills and vocabulary improved. (“Autism Case Studies”) Conclusion Parents need to understand that these children are special but they too have a right to lead a normal life with a standard education. Therefore it is the responsibility of the parents as well as the society (including doctors, teachers, the government and charitable organizations) to share their world with these unfortunate kids, making them believe in themselves and helping them become independent in their own way. References 1. “Autism Case Studies”, Rhythmic Entertainment Intervention, retrieved on April 24, 2008 from: http://www.reiinstitute.com/resources/article/9 2. Arndt TL, Stodgell CJ, Rodier PM (2005). "The teratology of autism". Int J Dev Neurosci 23 (2–3): 189–99 3. Abrahams BS, Geschwind DH (2008). "Advances in autism genetics: on the threshold of a new neurobiology". Nat Rev Genet 9 (5): 341–55 4. Cohen D, Pichard N, Tordjman S et al. (2005). "Specific genetic disorders and autism: clinical contribution towards their identification". J Autism Dev Disord 35 (1): 103–16 5. Leskovec TJ, Rowles BM, Findling RL (2008). "Pharmacological treatment options for autism spectrum disorders in children and adolescents". Harv Rev Psychiatry 16 (2): 97–112. 6. Rutter M (2005). "Incidence of autism spectrum disorders: changes over time and their meaning". Acta Paediatr 94 (1): 2–15. 7. Sigman M, Dijamco A, Gratier M, Rozga A (2004). "Early detection of core deficits in autism". Ment Retard Dev Disabil Res Rev 10 (4): 221–33 Read More