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Angelman Syndrome, Communication and Behavior Research Paper


Definition and causes of Angelman syndrome

Angelman syndrome is a disarray of the genes that affects the development of human beings. The disorder has an adverse effect to the brain and communication of the affected person becomes a problem. People suffering from this disorder show a unique behavior when communicating. Rough movements, regular smiling and a jovial mood are some of the common characteristics exhibited by the patients suffering from this disorder. There are several causes of this disorder. First, it is caused by inheriting an interrupted chromosome 15 from the mother. This occurs through deletion of part of the chromosome 15 during DNA replication. The alteration takes place in the region of chromosome 15 where the chromosomes donated by both parents are inherited. Angelman syndrome develops when chromosome 15 from the mother is misplaced as a result of gene replication.

Secondly, AS can also be caused by gene mutation. The mutation occurs in the UBE3A gene. This gene is found on both parents chromosome 15. However, it differs in its arrangement of methylation. The UBE3A gene is expressed in the brain region of hippocampus and cerebellum. The maternal UBE3A is more active than the paternal gene during expression. Angelman syndrome occurs when the 4 mega base of the maternal UBE3A gene is deleted leading to failure of the gene expressing itself in the brain region.

Incidence estimate of Angelman syndrome among children in the US

There are no exact data that show the frequency and incidence estimates of AS among children in the US. However, available information shows that the disorder is more common in children in between the ages 6-13 years old. Different studies have shown that the incidence estimate range from 0- 4.8%. This translates to an estimate of about 1/20,000. Additionally, the incidence estimates among the newborns is not given although there are reported cases. The results of the incidence estimates do not reflect the exact value because they ignore the longevity of the disorder and number of undiagnosed patients. It follows therefore that a more accurate incidence estimate is the median of 1/20,000 and 1/10,000. The frequency estimate projections can be obtained from the incidence rates compared to the birth rates in the US.

Behavioral manifestations of Angelman syndrome

The behavioral manifestation of AS adaptive skills of the patients is reduced. Behavioral manifestations are caused by poor cognitive and communication skills of the affected people. Coordination of psychomotor skills is affected and the patients cannot perform their normal routine proper. The common daily routine affected by the manifestation includes excreting, eating and wearing clothes. This calls for constant supervision of the patients whether they are adults or children. However, in some cases the patients were able to carry out some routine after management training of the routines.

The danger of this group of AS patients is that they have a poor anticipation of danger, can become deadly and occasionally lose focus on their activity they are performing. On the other hand, the behavioral manifestation makes the patients to develop high socialization ability. The high socializing ability is linked to the jovial character of the patients in reaction to nonverbal interactions. Children are more social than adults. As such, they should be allowed to participate in social activities even when the cultural beliefs do not allow. Participation in social activities helps improve their adaptive skills. Therefore, cultural activities should not prevent the participation of AS patients in social activities within a community because it helps them develop their communication skills.

Impact of Angelman syndrome on children’s communication

The first impact of AS on children’s communication is the autistic features. The autistic features include: nonverbal communication, lack of speech and delays in giving a response. Children with AS will communicate using the body language. Most of the responses will be displayed from the facial expression or actions of the hands. This requires a careful study to understand what the child is communication. Some will take too long to respond to any communication because of the delay in the motor development.

The second impact on child’s communication is the social interaction. The children become very friendly in their communication. In some cases, children will try to communicate, but are hampered by the verbal impairment, but they will wear a smile on their face. Occasionally, such children will use body language to express their communication although understanding their communication will be relatively difficult. In others, communication with strangers becomes normal and will communicate with a lot of fretfulness. However, the social interaction becomes a major problem because the children will have poor interpretation and response to public and emotional signals from other people. This may lead to a situation where the patient gives irrelevant response or becomes fatal.

Impact of Angelman syndrome on children’s behavior

The major impact of AS to children’s behavior is coordination. This disorder affects the nervous system that is responsible for coordination and communication for human beings. An affected nervous system results to retardation of body growth, brain development, communication problems and body balance. Complex defects in the nervous system may lead to seizures in children that manifest it to become epilepsy. Abnormal development of the brain makes children to develop a comparably small head size. Newborns affected with AS have retarded growth after six months. Children suffering from this disorder are likely to encounter the above situations although it may vary from one child to the other and the environment.

A typical AS condition patients has unique behaviors. The most common pointers of the disorder are: cheerfulness, being nervous, regular smiling, amusement and hand-flapping movements. Other signs include attention problems, hyperactivity and frequent associations with water. In severe cases, the affected children exhibit sleeping problems. The sleeping problems decrease with age, but the intellectual, seizures and communication problems persist.

Behavioral recommendation for SLPs working with someone with AS

The recommendation will be to introduce a speech and language therapy to the AS workers. The therapy should be administered using the best language the patient understands. This will vary from one person to another. The SLT has several advantages for AS patients. First, it enables an individual to learn how to produce sound. This strategy will help in improving communication with the other workers. As a result behavioral manifestations will be reduced. Secondly, I would recommend that, the first therapy should be aimed at improving function and medical disabilities. It is a strategy to address all the impact of the disorder. Understanding language therapies require a strong background of medical and functional abilities. Once this has been achieved both cognitive and coordination difficulties will be improved. Finally, I would recommend introduction of a progressive daily language functional development. This will give them to avoid forgetting the SLT therapy. The functional language development should be based on different communication tools. This is a strategy to ensure that the patient can communicate with everybody using the available communication tools.

References

Barry, R. (2005). Behavioral aspects of Angelman syndrome: a case control study. American Journal of Medical Genetics, 5(1), 132:8–12.

Bonati, M. (2007). Evaluation of autism traits in Angelman syndrome: a resource to unfold autism genes. Journal of Neurogenetics, 8(1), 169–78.

Walz, N. (2006). Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome. Journal of Autism Development Disorders, 37(1), 940–7.

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IvyPanda. "Angelman Syndrome, Communication and Behavior." August 22, 2020. https://ivypanda.com/essays/angelman-syndrome-communication-and-behavior/.

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IvyPanda. 2020. "Angelman Syndrome, Communication and Behavior." August 22, 2020. https://ivypanda.com/essays/angelman-syndrome-communication-and-behavior/.

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IvyPanda. (2020) 'Angelman Syndrome, Communication and Behavior'. 22 August.

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