Analysis of Genetic Disorder: Angelman Syndrome - Essay Example

Angelman syndrome is a genetic disorder caused by a gene mutation on chromosome 15, inherited from the mother. It attacks the nervous system, and the gene is called Ubiquitin-Protein Ligase E3A (UBE3A). It undergoes mutation by deletion. This disorder has the following symptoms; the patient experiences a delay in development of the body organs, inability to use intelligence, difficulties in speech, frequent body imbalance, and impaired movement. In children, many symptoms show off at young age. This is so since, at this age, symptoms are usually so severe hence noticeable quickly. There is usually loss of immunity and vulnerability to infections. Most of them also will have abnormal small sized heads. The excitement and abnormal laughter with smiling faces are so loud that communicates the presence of this disorder. Affected children are usually disturbed mentally that they do not get enough sleep. As they grow up, the victims become less and less excited and get enough sleep, but remain slow in reasoning and worse in oral communication ability. Adults have severe vulnerability to infection in their entire life. Comprehensive Research on Angelman Syndrome Introduction A pediatric doctor called Harry Angelman first discovered Angelman syndrome. Dr. Harry took a keen look at the characteristics of a number of children and observed that their features resembled. They were smiling anyhow with delayed mental abilities. Moreover, they were speechless and vulnerable to infections. All of them looked alike in the face. As a result of these features, he initially gave the syndrome the name “Happy Puppet Syndrome”. Later on, the name transformed to what is referred to as “Angelman Syndrome”. The University of Florida became the first to carry out research on this disorder in 1980 when the information about the Angelman syndrome first reached the United States of America. The University later discovered that a gene was missing on maternal chromosome 15, and this was during the late 1980’s. Doctors Joseph Wagstaff and Arthur Beaudet discovered later in their research that the missing gene is UBE3A (Hewitt 3). Angelman syndrome is caused by suppression or lack of a certain gene called UBE3A, which is a protein inherited from the mother. This gene is very important in various parts of the brain. It imprints the genome in the majority of the nerves of the brain. As a result, failure, or inadequate expression of this gene leads to intellectual inability in the affected people, and thus, it is significant to have this fundamental gene active. UBE3A gene from the father’s chromosome is inherited, coupled with the one from the mother. However, naturally, the paternally inherited UBE3A gene is suppressed due to the antisense RNA of UBE3A present on the paternal chromosome. This renders maternal gene the only hope. A new research on Angelman syndrome has shown that a small number of people with Angelman syndrome are suffering from a certain gene mutation. This mutation, which occurs on TCF4 gene, is responsible for a number of features on the patients. Most of them are mentally retarded, big mouths, overhanging lips and pointed nose. Some of the Angelman syndrome victims may have trouble in inhalation and exhalation. Therefore, it is advisable to screen the Angelman syndrome patients for TCF4 gene mutation in order to avoid recurrent health problems, shall the patient start undergoing treatment (Hewitt 4). Careful diagnosis of Angelman syndrome is done without any assumptions because it has similar features with autism disorder. Forms of diagnosis include clinical diagnosis whereby features of Angelman syndrome are screened individually. DNA tests are regularly done to detect any gene or chromosomal mutations just in case the Ubiquitin Protein Ligase gene could be missing. Any assumptions are avoided due to the similarities that exist between the symptoms of Angelman syndrome and other disorders like Rett syndrome, non-specific cerebral palsy, and Lennox-Gastaut syndrome. There is no known treatment for Angelman syndrome since it is a genetic disorder. However, specialists have devised therapeutic methods and other methodologies to treat the consequential effects of this disorder. The therapies involve; speech and language, occupational, epileptic treatment, communication, physical, special education, behavior modification, and social skill development (Dan 20). Speech and language therapy; communication is vital in an individual, and without it one is embarrassed and isolated. An individual has the feeling that he or she does not fit in the social arena. The specialists handling the therapy do more than just pronouncing letters. They develop the patient’s ability to communicate, and this includes the use of sense organs and non-verbal cues. The patients are taught how to read and write. It is advisable that parents and guardians start this exercise at early ages so that communication skills develop as one grows up. Consequently, it is crucial to incorporate all the possible techniques of communication. However, Angelman syndrome patients can conceptualize various communication techniques differently. These communication techniques involve pointing fingers, facial expressions, and body movements. Speech and language therapy applies on a variety of skills. These comprise; non-verbal cues, swallowing therapy, oral exercises, speech pragmatics, conversation skills, concept skills, and cognitive skills. The therapist uses songs, games, computer devices, and portraits to train the patients on speech and language use. Pictures and computer devices help to create images in the minds of the patients enabling to exercise in the absence of the therapist. Through the above, the victims of Angelman syndrome learn very well. It is only fair for the therapist to be dedicated to this service delivery. Repeating and remaining consistent to what the therapist teaches creates emphasis to the patient. Using the right and different modalities of communication develops the ability of the patient to remain attentive and capture the concept (Dan 25). Individuals with Angelman syndrome need occupational therapy. This therapy develops autonomic ability in an individual with this disorder to be able to support oneself to feed and dress. It also helps to develop sense, fine motor and writing skills in an individual. Sensory processing enables one to sense changes in the environment, for example, light, touch, sound, and balance. These senses are very important since they enable one to escape dangers and other unfavorable conditions, for instance, excess heat, pain, imbalance, and cold. Sensory processing disorder is a condition in an individual with no ability to sense changes, or over senses the environmental changes. It is common in people with Angelman syndrome. Excessive sensation of the individual with sense processing disorder needs medical assistance from an occupational therapist, who will help to adjust and accommodate the condition. This enables the victim to survive and carry out his or her activities in a normal way. Various trainings are done including practicing to grasp, release and manipulate the hands. Therapists handling young children below three years concentrate on medication and functioning of their body parts. It is only until they turn three that the focus shifts to education. Here, they are taught to hold pens in readiness to write (Acton 30). All the parties involved in this therapeutic exercise have to employ all the tactical methodologies to embrace and develop interest among the affected individuals so that they can remain goal oriented. The parents must remain monitors of their children’s characters in order to assist them quickly, in the event they develop strange characters. Various approaches have been developed to address Angelman syndrome issues that need occupational therapy. These are; increasing awareness of the body and irritability and response, improving seating position to accommodate other physical activities, and improve body posture for biological characteristics, like inhalation and exhalation. Others are; assisting to distinguish between various stimuli, building necessary skills to enable carrying out daily routine practices, developing knowledge for social interaction in order to despair the feelings of inferiority within a social setting, preparing to meet external forces with confidence and preparing for collisions in a play. Feeding habits and behavior focus are also vital for they assist the victim on how to eat. Some people with this problem may have eating problems like overstuffing in the mouth due to sense difficulties. The following are methods of occupational therapy performed on individuals of such Angelman syndrome. Brushing is a technique founded by Wilbarger Protocol, who introduced soft brush overall body in order to arouse the emotions of the body. It raises or lowers sense to touch. Joint compression is another method where joints are forcefully compressed, in the entire body, to cause sense in the brain regarding body space. Positioning seating is a method of occupational therapy whereby an occupational therapist develops an apparatus that can help the victim have right posture to support breathing. Families, whose homes have swing hangs on the roof, also do swinging. It helps to correct posture, as well as, calm the children while at home. Aqua therapy is applied in water. It creates sensory arousal to the body; buoyancy reduces movement resistance in water. It helps to boost balance and posture in affected individuals. Oral motor stimulation is the external application of a cold piece of cloth whose temperature is not at freezing point. Furthermore, massaging with objects that vibrate and oral introduction of cold substances triggers the mouth in readiness for speech and feeding therapy. An occupational therapist introduces therapeutic riding on a movable ground, for example, on a horse, which enables all parts of the body to undergo movement. This offers repeated challenges to the body balance, and it provides a platform for fine motor tasks with limbs (Black 10). Writing, playing, and self-help skills should develop in people with Angelman syndrome. This is possible with the help of occupational therapists who introduce them to some physical exercises, for instance, manipulating dough, painting, sorting different objects and finger isolation tasks. Sensory diet is very vital where an occupational therapist can design a mechanism of treatment, which includes integrating sensory activities throughout a child’s day. These activities prepare the body parts for tough activities, for illustration, a child may start the day with a moment of swinging and swaddling to arouse the whole body. Other activities are brushing joint, application of lotion and massage performed by the occupational therapist in charge for the same mission (Harris 5). Angelman syndrome patients have a normal lifespan although, without proper care from a therapist, they lead hopeless lives due to severe disabilities both physically and mentally. The syndrome specialists suggest that proper screening of the child’s character should be taken seriously, especially for children below six months, whose Angelman syndrome features are not noticeable at a glance. Once symptoms have been identified, one has to consult a pediatrician for advice and clinical diagnosis if need arises. It is worth noting that people with Angelman syndrome are free to mingle with normal people since the disorder is not infectious. They should be given proper treatment and some level of attention due to the disabilities they possess. If they face isolating, they will feel demoralized, and hopeless thus reducing their lifespan. It may also develop in them psychological torture, which may lead to emotional stress, early death and stroke. Works Cited Acton, Ashton. New Insights for the Healthcare Professionals.Georgia: Scholarly Edition, 2012. Print. Black, Tibany. Communication/educational Programes for Students with Angelman Syndrome in Inclusive Classroom: A look at Best Practices, New Hampshire: ProQuest, 2008. Print. Dan, Bernard. Angelman Syndrome in Volume 1 of Clinics in Developmental Medicine. New York: Wiley, 2008. Print. Harris, James. Developmental Neuropsychiatry. U K: Oxford University Press, 1998. Print. Hewitt, John. Health and Fitness. U S A: CreateSpace, 2011. Print. Read More