What Is Angelman Syndrome Biology Essay

What Is Angelman Syndrome Biology Essay Parents: What is Angelman Syndrome? Me: Angelman syndrome is a nervous disorder of the brain also called as Puppet syndrome. The syndrome was first reported by a British pediatrician Dr. Harry Angelman in 1965. It leads to mental disorder accompanied with speech problems. This is a very rare condition that sometimes even doctors are not completely aware of it. The syndrome is often misdiagnosed with cerebral palsy, autism or other mental disorders of children. The occurrence is approximately 1 in 25,000. Parents: What is the Prognosis of the syndrome? Me: The individuals with this condition have quite a healthy and normal life span. Some of the common features that can be noted are sleeping disorders, attention deficiency, speech problems and hyperactivity. Even these can slowly diminish with age. Their sexual development is normal. Puberty and menstrual cycle are also normal and occur at the right approximate age. There are high risks of having severe developmental delays which can be minimized or avoided to an extent by early diagnosis and therapy. They can lead an independent adult life except people who also have epilepsy along with this syndrome. Parents: We found her being slightly abnormal, she wasnt able to grasp what we are telling and is really struggling to pronounce words. What are the other possible symptoms? Me: The main symptoms of the disease are mental retardation, speech problems and hyperactive behavior. It is usually present right from birth but the symptoms of it are mostly not noticed until the age of 3. But certain developmental delays can be noted between 6 to 12 months of the child. Usually their MRI and CT scan reports show structurally normal brain features. They may have no speech or very low speaking capacity. They have higher tendency in actions rather than verbal communication. They show some unique behavior like hand flapping, attention deficiency, frequent laughter, sleeping disturbances, delayed toilet training, feeding problems and easily excitable personality. Seizures are noted only after the age of three so the possibility of identifying the syndrome before this age is not always possible. Their Electroencephalography (EEG) reports turn out to be abnormal; EEG is a test used to check the neural activity of the brain. They have much attraction to water and are highly sensitive to heat. It is not completely known why laughter is so frequent in this syndrome. Continuous smiling, abnormal facial gestures followed by burst of laughter in public are noted in almost 70 75% of the cases. They may not have good balancing capacity to walk. Trembling legs are noted along with ataxia. Ataxia is a condition where there is no co-ordination of muscular movements. They have trembling feet resulting is disability to walk. Normal sitting and walking may take 3-4 yrs of age. In highly severe cases walking is not possible until they are older, or it may be robotic. 100% of the cases are mentally retarded with attention deficit and which is non-progressive. They may be severe in most of the cases. Mostly they would need a sheltered life in their adulthood. Parents: Oh! Do they show any abnormal physical features? Because our daughter seems to look quite normal. Me: Yes! They do. Some of the common ones are a flat head at the back, wide opened mouth with spaced teeth, light hair and eye color, deep set eyes, excessive chewing behaviors, lightly pigmented skin texture, uplifted arm position, enlarged toes, soft and tender palms, tongue thrusting, and frequent drooling. A small head may be found in certain cases. All the symptoms which I have said both physical and clinical need not necessarily be found in all kids with this syndrome. They may occur in different combinations and in different levels. Parents: How did the condition arise? Me: Angelman syndrome occurs due to the deletion of a part of the chromosome 15 known as 15q11-13 that comes from the mother which results in abnormal or no expression of the maternal chromosome in the child. And hence all the functions of the chromosome 15 are being affected. Around 60-65% patients are affected by this cause. In 2-5% of the cases there may be two copies of chromosome 15 from the father and no chromosome from the mother. This condition is termed as uniparental disomy. Sometimes the chromosome obtained from the mother functions exactly the same as the chromosome obtained from the father. Rarely AS may result due to breaks in the chromosome like translocation where two chromosomes break and exchange their broken pieces. The other type is inversion where a chromosome breaks and gets attached in the opposite direction. In both these cases the exact combination of amino acids is changed which would affect the production of ubiquitin ligase protein. And finally in 20% cases there may be a fault in the UBE3A gene which is present on chromosome 15. UBE3A is ubiquitin ligase, which is considered as one of the major factors for the normal development and functioning of the brain. The relevancy of this gene to the disease is not yet completely known. 15-20% of the cases are unidentified mutation. They are still under study and a clear cause is not defined. Parents: What is the importance of these chromosomes? Me: Every chromosome is made of DNA which consists of specific amino acids. Different combinations of amino acids help in producing different proteins which are responsible for specific functions in the body. So when there is an alteration in the chromosome it affects the production of the particular protein. So automatically the protein function is lost and the relevant disorder arises. The protein that is involved in brain growth and function is called as ubiquitin ligase protein which is produced from the chromosome 15 of the mother. The condition is always from the chromosome 15 of the mother. The same chromosome from the father is also equally important but alterations in the fathers gene would lead to a different condition called the Prader Willi Syndrome. Parents: What are the ways of diagnosis? Me: Diagnosing AS is difficult during infancy. The criteria for diagnosis was developed only in 1995 and further revised in 2000 by the Angelman syndrome society (USA). In certain cases parents or doctors may find developmental delays between 6-12 months of the child. Even all brain scan reports turn to be quite normal. Only after the age of two or three notable changes can be found like concentration problems, speech impairment, balance disorder, frequent smiling or flapping of hands. After the age of three EEG reports can be found abnormal which is be followed by DNA analysis. Sometimes even genetic reports turn out to be normal which can lead to a lot of confusion and misdiagnosis. Family history of the syndrome and development history of the child is completely studied and genetic expression of the ubiquitin protein is confirmed. The confirmatory test for the Angelman Syndrome involves testing of blood in four steps: The size, shape and number of chromosomes in a cell sample are noted for changes. This is known as karyotyping. Genetic analysis to find missing chromosomes. This is done by a specialized process called FISH (fluorescent in-situ hybridization). A test called DNA methylation test is done where the result will confirm whether the DNA of both the parents is expressed. If both the DNA copies are expressed it means that they are active. In cases of AS only paternal or the fathers DNA is expressed. Finally UBE3A protein is sequenced. This is done because sometimes DNA methylation test turns to be normal. This is due to the condition that maternal DNA is normally expressed but mutated. Parents: Is Gene therapy possible. What are the other possible treatment methods? Me: There is no possible treatment for the disease at the genetic level. Since 99% of the cases are spontaneous mutation the possibility of prevention is also at the least level. Angelman syndrome is a collection of various medical conditions; hence separate therapies can be carried out for every symptom to provide a better lifestyle for the patient. The therapies are selected according to the noted symptoms and their level of effect on the individual. From the age of 3 speech and communication therapy is recommended for improving their speaking and communicating skills. Occupational therapy is carried out for everyday living skills. Physiotherapy can help in better walking and other motor activities. Sometimes hypermotoric behaviors cant be controlled by behavioral therapy so perfectly safe environment must be provided. If the condition is accompanied by epilepsy, separate medications are followed as prescribed by the physician for treatment of seizures. Medications are also available for sleeping problems, hyperactivity etc. Non prescribed sedatives are not to be given because they may lead to negative side effects. Because that they have feeding problems their nutritional status should be frequently monitored. Surgeries are available for conditions like strabismus and other orthopedic problems. Surgical rod stabilization is done for severe curvatures. During old age the individuals become less mobile and are not much active. They must be given scheduled work under supervision to avoid obesity and scoliosis. Scoliosis is a condition of severe curvature side to side in the spinal cord. Parents: What is the mode of inheritance? Will our future children be affected? The risk of inheritance is based upon the type of mutation that occurs in the parents. With no family history for the disease and if the occurrence is completely spontaneous during cell division then the chances of getting the disorder in consequent children is

The Effects of Antidepressants on Physical and Psychological Symptoms of Depression :: Nursing

This article informs about a study that makes the connection between psycholgogical and physical symptoms of depression, and it highlights new possibilities of treating physical complaints separately. It is a known fact that mostly unexplainable physical symptoms appear in depressed patients, and often they are the signals that indicate to physicians the presence of an affective disorder. These symptoms are most commonly: fatigue, sleep problems, headaches, nausea and back pain. In this research, 601 patients undergoing different therapies for their depression were chosen randomly to participate. Patients in this investigation were put through a longitudinal experiment to see how the symptoms of their depression, as well as their physical symptoms were altered with antidepressants. They were periodically asked to fill out a survey to assess their depression, psychological symptoms, and their quality of life. The experiments lasted 9 months, and the patients received these different antidepressants: paroxetine, fluoxetine, and sertraline. Almost half of the patients presented all common physical symptoms, and few developed new symptoms during the study. Although the physical symptoms had greatly improved in the first month of medication, they soon plateaued and ceased to improve, while the psychological symptoms such as mood and well-being continued to improve.   Ã‚  Ã‚  Ã‚  Ã‚  At the end of this experiment, scientist learned that although the depression symptoms of patients almost disappeared, the physical symptoms, mostly the ones involving pain, had not continued to improve since the plateau in the first month of therapy.

Feminism in Jane Eyre

Jane Eyre was written in a time where the Bildungsroman was a common form of literature. The importance was that the mid-nineteenth century was, â€Å"the age in which women were, for the first time, ranked equally with men as writers within a major genre† (Sussman 1). In many of these novels, the themes were the same; the protagonist dealt with the same issues, â€Å"search for autonomy and selfhood in opposition to the social constraints placed upon the female, including the demand for marriage† (Sussman). Jane Eyre fits this mould perfectly. Throughout the novel, the reader follows Jane Eyre on a journey of development from adolescence to maturity to show that a desire for freedom and change motivates people to search for their own identity. Jane begins to form her identity with the aid of many characters she encounters at Lowood, Thornfield, and Marsh End. Miss Maria Temple, who was Jane's first significant female encounter at Lowood, functions as a role model and an influence for Jane. Miss Temple's character displays the breakdown of the Great Chain of Being, but in a more gentle way than Rochester or Jane herself. She defies Mr. Brocklehurst and his hypocritical ways only as far as she will still retain shelter and her place as a teacher. To Jane, Miss Temple embodies all of the qualities that a woman should. Sandra Gilbert and Susan Gubar write, â€Å"Miss Temple, for instance, with her marble pallor, is a shrine of ladylike virtues: magnanimity, cultivation, courtesy – and repression† (Gilbert 344). While Miss Temple seems to show Jane what she should become, she also introduces her to control over her emotions. Unlike Jane, whose self-assertiveness permits her to give in to passionate confrontations, Miss Temple would â€Å"never allow `something' to speak through her, no wings will rush in her head, no fantasies of fiery heath disturb her equanimity, but she will feel sympathetic anger† (Gilbert 345). Her influence in Jane's adolescence and early adulthood teach her to have harmonious thoughts, and to give â€Å"allegiance to duty and order† (Gilbert 347). Here, Miss Temple teaches Jane to suppress her wild emotions and become compliant under the â€Å"superior† male, but still maintain an inward anger that can never be expressed. Jane, however, cannot conform to the lesson being taught to her; through Miss Temple, she learns that her journey into maturity and freedom requires her to be more independent and passionate than Miss Temple instructs. Miss Temple is not only like a mother figure to Jane, but she is also â€Å"encouraging of intellectual growth† (Rich 466). Temple's impact on Jane's education allows her to become stronger in character, which will eventually bring her to complete independence. Kathleen Tillotson finds in Miss Temple a sign of hope for Jane: â€Å"the warm fire and the cake from the cupboard in Miss Temple's room are assertions of individual loving-kindness, though also of it's limited power† (Tillotson 60) In spite of this, Tillotson writes that Jane at Thornfield is â€Å"submitting to virtue in lovable form, as she had once submitted to Miss Temple† (Tillotson 60). In other words, Tillotson argues that although Miss Temple may have positively influenced Jane in certain ways, ultimately her call for repression and submission instigates Jane's realization that she must discover her own place in life, and no one can dictate it for her. While Jane attends Lowood, she encounters another character that will help her to shape her identity. When Helen Burns is introduced to the novel, she brings with her a kind of warmth and spiritual light that touches Jane and Helen aids her in developing into the woman that she will soon become. She has a devout faith in Christ, and using this, Helen is able to function as Jane's main guide in building a strong character who is filled with forgiveness, hope and a strong sense of self. Helen allows Jane to peer into a world where â€Å"the values of endurance and obedience† (Singleton, 70) are visible. Jane often relies on Helen because she â€Å"is strong of will, awkward and blundering in the practical world yet intellectually and spiritually mature beyond her years . . . ithout pettiness, hysteria, or self-repudiation† (Rich 466). These qualities will help Helen in leading Jane down a path that will indefinitely make her shine amongst those who surround her. A sympathetic Helen Burns is seen lavishing emotions upon Jane that she has never felt before, let alone imagined. Helen assists Jane by being a mentor and a friend, a companion that Jane can confide in. â€Å"Helen and Miss Temple together represent two key facets of the feminist community: the need for companionship and mentors. These necessities are what the Reeds denied Jane† (Singleton 66). By showing Jane love and encouragement she teaches Jane that â€Å"primary importance is taming her rage and learning to forgive . . . that this is the model that Christ has set forth in the New Testament — to love one's enemies† (Singleton 73). As Helen encourages Jane to strive to be her best, she acts a â€Å"moral and ethical force† (Rich 467), she provides Jane with â€Å"a sense of her own worth and of ethical choice† (Rich 467). Bronte introduces Helen Buns into the novel to aid Jane and to be a guiding light in the ethical and moral world by showing Helen to be a character who is strong and true to herself, even until the end of her life; by using Helen as an example, when Jane leaves Lowood, she finds herself and she is ready to face to world with her head held high, face shining in the light. Another representation of religion, and also a strong male influence in Jane's life is that of St. John Rivers. The character of St. John is one of the final obstacles to Jane's maturation and understanding of her role as an independent and free woman. St. John represents, like the character of Brocklehurst before him, the hypocrisy and unwavering patriarchy of organized religion and its many hypocritical keepers, but unlike Brocklehurst, St. John's piety is more real and his misogyny somewhat more subtle, and, following his proposal, Jane comes to a better understanding of who she is and where her life is headed. St. John asks for Jane's hand in marriage, but not out of love; rather, he intends Jane to be a missionary wife, someone who will be of use to him in the service of God. According to Adrienne Rich, there is a certain virtue in this kind of offer, especially for Jane: â€Å"What St. John offers Jane is perhaps the deepest lure for a spiritual woman, that of adopting a man's cause or career and making it her own† (Rich 473). In this proposed marriage, there is the attraction of some of the things she has been searching for, namely a life of service and principle, and a way of overcoming the obstacles of patriarchy she has struggled with her entire life, by adopting a life in service to â€Å"male† cause. Therein lies a part of the problem, however, as service and principle are only part of what she desires in life, and, as she ultimately discovers, even beyond the attraction of taking on a more male role, that this will not fulfill her need for a life that is more complete. In the essay by Gilbert and Gubar, they explain, â€Å"In fact, as St. John's wife †¦ she will be entering into a union even more unequal than that proposed by Rochester, a marriage reflecting, once again, her absolute exclusion from the life of wholeness toward which her pilgrimage has been directed† (Gilbert 366). With St. John's proposal of marriage, Jane begins to comprehend more about herself and where her life is headed. She discovers that she cannot devote her energy and ambition towards fulfilling just a part of her life, such as the desire for service, but rather, she discovers that her life needs to be a life of â€Å"wholeness,† something that a marriage to St. John could never provide, because St. John, like Brocklehurst, is a â€Å"pillar of patriarchy† (Gilbert 366), a misogynist who is bent, consciously or unconsciously, on restraining Jane spiritually and emotionally. Rich points out in her essay that St.  John's offer of marriage is a means in which â€Å"he will use her† (Rich 473), and fortunately, Jane sees through the superficial benefits of a union with the patriarchal St. John, and that her for her to be content, she needs a life of wholeness. Armed with these realizations, Jane is now able to return to her true love, Rochester, on her own terms. The character of Mr. Edward Rochester influences the spiritual and personal growth of Jane through his relationship with her as the master at Thornfield and later, as her husband. His self-proclamation as being equal to Jane shows the breakdown of the Great Chain of Being. Sandra Gilbert and Susan Gubar write that while in â€Å"one sense Jane and Rochester begin their relationship as master and servant, prince and Cinderella, Mr. B and Pamela, in another they begin as spiritual equals† (Gilbert 352). In his allowance of Jane to be his equal, he encourages her progression to a strong sense of her own identity and independence. In a more sexual light, Rochester is the one who will eventually awaken Jane to her own sexuality. This occasion exhibits Jane's journey into adult maturation: â€Å"it is he who will initiate her into the mysteries of the flesh† (Gilbert 355). Adrienne Rich states that the episodes at Thornfield encompass three defining aspects: the house, Rochester, and Bertha. Rich writes, â€Å"Jane comes to womanhood and to certain definitive choices about what it means to be a woman† (Rich 468). In other words, during her stay at Thornfield and due to her interactions with its inhabitants, namely Rochester, Jane realizes what being a woman suggests. The break down of the Great Chain of Being is shown through Rochester even further, when Jane finds that he is married to another woman. As she leaves him because of her strength and of her own free will, Jane's independence is reinforced. Critic Elaine Baruch contrasts this action to Romanticism, and states, â€Å"Unlike the lady of the chivalric romance who had merely to sit still in order to find a destiny in the form of some passing knight, modern woman must seek her own hero† (Baruch 157). Here, Baruch is commenting on how Rochester's dark and haunting past results in a positive outcome for Jane, in that it strengthens her independence and desire for freedom and identity. Instead of deliberately wasting time waiting for destiny to find her, Jane seeks out the right destiny for herself. The various characters in Charlotte Bronte's Jane Eyre provide the heroine with both role models and obstacles to her maturation into adulthood, and more importantly, womanhood. Jane's experiences with these characters, and what she takes from each, show the importance of determining for oneself his or her own morals, ethics, goals, and by not allowing others to dictate how one lives his or her life, love, wealth, and ultimately happiness can be achieved. All people have their own unique set of traits, from their morality to their spirituality, their speech, and their faults. To be a person who is happy and truly successful on spiritual, emotional, and physical levels, one must draw from the good and decent people he or she meets that which will be ultimately beneficent; for example, emulating and learning from the spirituality of a person who is truly and passionately spiritual. Unfortunately, not all the people a person meets in his or her life will have qualities which a person will want to emulate; in a way, these people become obstacles to a person's pilgrimage towards self-understanding and happiness. These people, the barriers to a person's self-development, are just as important as the people who function as positive role models. Those who are consciously or unconsciously determined to stop those on the path to happiness and self-discovery can be destructive, but they can also be unintentionally helpful. All too often, these figures are successful in breaking other another person's will and forcing their principles upon him, but when people like this, the hypocrites, the self-righteous, the misogynists, the arrogant aristocrats, and the like, fail, that previously oppressed person becomes significantly stronger by overcoming these barriers. Ultimately, nearly everyone has a life-long struggle with self-identity, and nearly everyone has encountered these influential people in his life, the role models and the obstacles. Unfortunately many become victims to the authority of those people who would force their will upon others, and ultimately, most people never complete their journey to independence; all too often they give up, and allow themselves to bent to the will of others. It is evident that this pilgrimage is a long and arduous one, a journey that few complete, and the author suggests that on top of the inherent difficulty of this journey, women have an even greater challenge before them. Because of the insidious and ubiquitous influence of patriarchy in the author's society, the journey towards independence and self-understanding becomes significantly more difficult for women; it is a truly joyous occasion when a woman does succeed in breaking free from the chains of male dominated society, becoming independent, self-aware, and, hopefully, happy.

Gender Sexuality As A Social Construct - 1601 Words

Alike gender, sexuality is also a social construct, especially when looking at the period before the 18th century, when one’s sexual orientation did not matter, hence there being no need for justification, just as pointed by Foucault: â€Å"Sexual practices had little need of secrecy; words were said without undue reticence, and things were done without too much concealment; one had a tolerant familiarity with the illicit.† (3). And the 19th century came and brought with it a big change, and not only did people become engulfed by social norms, whom they should abide at all costs, but they also had to keep their sexual preferences under lock and key: â€Å"But twilight soon fell upon this bright day, followed by the monotonous nights of the Victorian†¦show more content†¦When one is deemed a â€Å"boy†, one has yet to overcome the threshold of childhood, in order to become a man: â€Å"He was a boy, just a boy, when I was a very young girl.† (Will iams 95). Conversely, Stanley was the embodiment of masculinity, from his clothes to his behaviour. He was loud (â€Å"Stanley rarely talks, he â€Å"shouts,† â€Å"bellows,† â€Å"booms,† or â€Å"hollers.†(Guilbert 99)), uncouth, the sole provider of his family, he deemed himself the â€Å"king† of his household and did not shy away from domestic violence. So, just as described by Tenessee Williams, Stanley was exactly how a man was expected to be, back then: He is of medium height, about five feet eight of nine, and strongly, compactly built. Animal joy in his being is implicit in all his movements and attitudes. Since earliest manhood the center of his life has been pleasure with women, the giving and taking of it, not with weak indulgence, dependently, but with the power and pride of a richly feathered male bird among hens. (Williams 29) Being the typical image of American masculinity, Stanley dressed accordingly, he wore a wife-beater and was relatively careless about his appearance because straight men could not be bothered with such trifles: â€Å"He wears an undershirt and grease-stained seersucker pants.† (Williams 71). In contrast, Allan, because of his sexuality, was expected to be the complete opposite of Stanley, extremely careful with hisShow MoreRelatedSexuality And Gender : Social Constructs Essay1366 Words   |  6 PagesSexuality and Gender are social constructs. They are more like fluid concepts. Both are on spectrums. Why could they be considered controversial topics, more specifically the spectrum? Well, the idea of sexuality being more than just heterosexuality has been challenged by conservative types and others alike for years. They may even deem anything other than heterosexuality as something abnormal and immoral. 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