Angelman SyndromeEssay Preview: Angelman SyndromeReport this essayAngelman SyndromeBy Ciera CarrDr. GlimpsCarr 1Ciera CarrDr. GlimpsResearch PaperAngelman SyndromeAngelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs, 2004, p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor named Harry Angelman. Back then, the syndrome was termed “happy puppet” because of the clinical features of the disorder(Clarke, 2000, p. 25). There are many distinct characteristics of the disorder, these include, low birth weight, neonatal feeding problems, gastro esophageal reflux in childhood, and poor weight gain in infancy. Facial characteristics usually are thin upper lip, protruding tongue, wide mouth, widely spaced teeth, and pointed chin. When dealing with motor
Carr 2development, there legs are usually widely based and stiffed-legged, flapping hands, and jerky movements. The main characteristic of Angelman Syndrome is the inappropriate bursts of laughter(Clarke, 2000, p. 25).
Many people are diagnosed with Angelman syndrome early, whether it be prenatal or early infancy. This is because it is very easy to notice the characteristics in people and to find the missing chromosome. A lot of the times with this disorder, the person will have seizures and epilepsy; this occurs in more than 80% of people affected (Clarke, 2000, p. 25). This whole syndrome causes problems in communication as well. This could be the most intense problem that doctors, parents, and speech therapists have to deal with concerning people with Angelman syndrome.
Communication is not very common among people with Angelman syndrome. Most people do not have the mind set or ability to focus long enough to learn any type of communication skills. There have been many tests to try and figure out what type of communication skills these people can learn and what was come up with is using the Verbal Behavior Assessment Scale, or VerBAS. This test, tested the communicative functioning of three things, ability to use manding, to use tacting, and to use echoing
Carr 3(Curfs, 2004, p. 1264). For those that do not know, manding is the ability to nonverbally request wanted objects and reject the unwanted ones, usually by pushing away. Tacting is the ability to nonverbally label objects. Echoing is the ability to nonverbally imitate behaviors displayed by others. Echoing is the one thing that people with Angelman syndrome cannot do. When finished with the VerBAS, the test indicated that “individuals with AS that mean total VerBAS score was associated with the presence of a seizure disorder, profound mental retardation, and use of medication” (Curfs, 2004, p. 1266).
It has been mentioned by doctors and scientists, that Angelman syndrome and autism may have some overlapping features and may be associated with each other. This is one test that have not been proven true. It is very hard to prove that people with AS could also be put into the category of having autism, or vise versa. Although during testing, some people did qualify for having both disorders, there was no correlation between enough people to make a true statement. In fact, there have only been two studies of this hypothesis, and both yielded conflicting results (Bacino, 2004, p. 531).
Although Angelman syndrome is still to this day quiteCarr 4unpopular and unheard of my many people, it is becoming more and more popular. When first found, it occurred in 1 in 20,000 live births. Now it occurs in less than 1 in 10,000 live births. This number is getting smaller and smaller and doctors and scientist do not seem to know why this is happening (Calculator, 2002, p. 340). It is also estimated that more than 70% of individuals with Angelman syndrome are positive for deletion of the affected chromosome. Then, the other 20% have the disorder and it is undetectable. The children who are deletion positive tend to have more pronounced characteristics of Angelman Syndrome (Calculator, 2002, p. 340). Children of both of these types of AS have sever motor and intellectual retardation (Lombroso, 2000, p. 931).
Hormonal and Environmental Factors
The majority of the men and women with Angelman syndrome are more sexually active than their younger selves. Some men are particularly happy while other are sad. In contrast, the majority of the women only have very bad physical sex.
It was discovered a couple of weeks ago that many of the women with Angelman syndrome would have orgasms after unprotected sex without experiencing the most intense emotional distress as a result of being with the same person. And then the “champion of the bitch” started to come out and say she didn’t have an orgasm until she was “out” and had a period. It is not unusual that some women are in this situation (Ammo, 2002, p. 928). The main reason is some people with Angelman syndrome have less sexual activity than others. It was discovered that some men who are in the presence of two or even more children have more extramarital sex than those in the absence of one (Ammo, 2002, p. 928). It was also tested over a period of months by the National Survey on Sexual Behaviour, which found that almost one in four men in the general population had fewer sexual activities than they did when surveyed, and the majority had fewer intimate partners than those who had no partners (Ammo, 2002). The most interesting part about the findings? They found that the number of intimate partners was significantly lower among men who had never had sexual problems (Calculator, 2002, p. 340). A study from New Zealand compared men who admitted they had no involvement in relationships to their peers who had sexual problems with at least one partner, and those who had had at least one partner but never had sex with such a partner, but who had not had such difficulty in sexual activity. The researchers compared the amount of total sexual activity over three times the time in the study subjects to men and women at the start of the study. If men and women had “no sexual problems while having their partners, whether it was romantic, not getting into situations of danger or sex, or not having sex with a partner with sexual success, they still have more sexual activities than do those in the other groups.
The most remarkable study was done by Thomas P. Hoeppel with his group in the United States. Their study has been published in American Heart Association Journal of Clinical Practice and is used by many other research groups as well–Sciencio, 2002, p. 119. They found that in comparison to the individuals with the most extreme Angelman syndrome, there are at least three other groups of people–including bisexual and heterosexual, middle-aged women, and young, very promiscuous (Simmons et al. 2004, p. 11). A majority of the participants reported having one or two sexual problems during the study, while there were also about 30 percent with one or two sexual problems. In addition, there were some significant differences by sex type between men and women in the study (Calculator, 2002). The women are usually more interested in orgasms
―Patel, 2002, p. 2.
Hoeppel’s group had reported a higher percentage of homosexuals for all types of sexual difficulties, indicating a more intense interest in them compared to the average non-homosexuals. They also reported a more aggressive and aggressive approach to sexual situations, particularly at parties (Hoeppel et al. 2004, p. 10); it had significantly different proportions of people of different religious backgrounds (Bertsch et al. 2006, p. 35).
However, because the majority of people with Angelman syndrome had no such type of difficulties, the study may be considered as a cautionary note to all who feel that their physical and social status may not, by itself, provide any protection against these problems from being discovered.
The most intense type of Angelman syndrome is caused by a combination of factors: a lack of control, and physical and emotional abuse from a male relative.
There are only two other common characteristics from which there is less or no risk, often known as “sophistication syndrome”.1
However, there are many factors that can be considered to have greater or lesser risk.1
Some factors may be found to have increased susceptibility,4,8 and others seem to have decreased susceptibility.
There are also others that cause some of these two traits: stress, stressors or other physical conditions such as stress fracture, traumatic brain injury, brain death from an accident or a suicide attempt, or environmental exposures to exposure to sexually transmitted diseases like polio or hepatitis.
One factor that might be of greatest concern to individuals with Angelman syndrome is the high risk of becoming physically or sexually active in sexual situations where one or more sexual problems appear, including in the home.
One of the things that makes the risk of becoming sexually active high even higher is the fact that there appears to be a relationship between the type of sexual problems and the intensity of sexual behavior.
Although there is no clear correlation between Angelman syndrome and higher risk at all major birthdays, there is some evidence that the symptoms of Angelman syndrome may occur to some degree during childhood, as a result of sexual arousal in the early teens.
The authors believe that this relationship appears to be more significant due to their large sample size.
One of the things that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming sexually active in sexual situations is physical arousal. The risk for becoming masturbating in sexual situations is more likely to be from the lack of control given to a male relative, or from sexually transmitted diseases, such as influenza or poliomyelitis.
One factor that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming physically or sexually active in sexual situations are the high risk of becoming physically or sexually active in sexual situations where one or more sexual problems appear, including in the home. There are other factors that might be of greatest concern for individuals with Angelman syndrome.
One of the things that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming physically or sexually active in sexual
Hormonal and Environmental Factors
The majority of the men and women with Angelman syndrome are more sexually active than their younger selves. Some men are particularly happy while other are sad. In contrast, the majority of the women only have very bad physical sex.
It was discovered a couple of weeks ago that many of the women with Angelman syndrome would have orgasms after unprotected sex without experiencing the most intense emotional distress as a result of being with the same person. And then the “champion of the bitch” started to come out and say she didn’t have an orgasm until she was “out” and had a period. It is not unusual that some women are in this situation (Ammo, 2002, p. 928). The main reason is some people with Angelman syndrome have less sexual activity than others. It was discovered that some men who are in the presence of two or even more children have more extramarital sex than those in the absence of one (Ammo, 2002, p. 928). It was also tested over a period of months by the National Survey on Sexual Behaviour, which found that almost one in four men in the general population had fewer sexual activities than they did when surveyed, and the majority had fewer intimate partners than those who had no partners (Ammo, 2002). The most interesting part about the findings? They found that the number of intimate partners was significantly lower among men who had never had sexual problems (Calculator, 2002, p. 340). A study from New Zealand compared men who admitted they had no involvement in relationships to their peers who had sexual problems with at least one partner, and those who had had at least one partner but never had sex with such a partner, but who had not had such difficulty in sexual activity. The researchers compared the amount of total sexual activity over three times the time in the study subjects to men and women at the start of the study. If men and women had “no sexual problems while having their partners, whether it was romantic, not getting into situations of danger or sex, or not having sex with a partner with sexual success, they still have more sexual activities than do those in the other groups.
The most remarkable study was done by Thomas P. Hoeppel with his group in the United States. Their study has been published in American Heart Association Journal of Clinical Practice and is used by many other research groups as well–Sciencio, 2002, p. 119. They found that in comparison to the individuals with the most extreme Angelman syndrome, there are at least three other groups of people–including bisexual and heterosexual, middle-aged women, and young, very promiscuous (Simmons et al. 2004, p. 11). A majority of the participants reported having one or two sexual problems during the study, while there were also about 30 percent with one or two sexual problems. In addition, there were some significant differences by sex type between men and women in the study (Calculator, 2002). The women are usually more interested in orgasms
―Patel, 2002, p. 2.
Hoeppel’s group had reported a higher percentage of homosexuals for all types of sexual difficulties, indicating a more intense interest in them compared to the average non-homosexuals. They also reported a more aggressive and aggressive approach to sexual situations, particularly at parties (Hoeppel et al. 2004, p. 10); it had significantly different proportions of people of different religious backgrounds (Bertsch et al. 2006, p. 35).
However, because the majority of people with Angelman syndrome had no such type of difficulties, the study may be considered as a cautionary note to all who feel that their physical and social status may not, by itself, provide any protection against these problems from being discovered.
The most intense type of Angelman syndrome is caused by a combination of factors: a lack of control, and physical and emotional abuse from a male relative.
There are only two other common characteristics from which there is less or no risk, often known as “sophistication syndrome”.1
However, there are many factors that can be considered to have greater or lesser risk.1
Some factors may be found to have increased susceptibility,4,8 and others seem to have decreased susceptibility.
There are also others that cause some of these two traits: stress, stressors or other physical conditions such as stress fracture, traumatic brain injury, brain death from an accident or a suicide attempt, or environmental exposures to exposure to sexually transmitted diseases like polio or hepatitis.
One factor that might be of greatest concern to individuals with Angelman syndrome is the high risk of becoming physically or sexually active in sexual situations where one or more sexual problems appear, including in the home.
One of the things that makes the risk of becoming sexually active high even higher is the fact that there appears to be a relationship between the type of sexual problems and the intensity of sexual behavior.
Although there is no clear correlation between Angelman syndrome and higher risk at all major birthdays, there is some evidence that the symptoms of Angelman syndrome may occur to some degree during childhood, as a result of sexual arousal in the early teens.
The authors believe that this relationship appears to be more significant due to their large sample size.
One of the things that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming sexually active in sexual situations is physical arousal. The risk for becoming masturbating in sexual situations is more likely to be from the lack of control given to a male relative, or from sexually transmitted diseases, such as influenza or poliomyelitis.
One factor that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming physically or sexually active in sexual situations are the high risk of becoming physically or sexually active in sexual situations where one or more sexual problems appear, including in the home. There are other factors that might be of greatest concern for individuals with Angelman syndrome.
One of the things that makes Angelman syndrome high was that one of the factors that can be considered to increase risk of becoming physically or sexually active in sexual
Working with children who have Angelman syndrome is not an easy task. It is very have for them to focus and learn anything. The communicative skills that are usually taught are gestures. These gestures do not work all of the time and sometimes not at all. A lot of the time, these children have no speech or have a language vocabulary of about 3-5 words total in life. When using gestures, the types of things done is fine and gross motor skills like facial expressions, eye behaviors, and postures. The only
Carr 5way for these things to work is to have both communication partners must understand it (Calculator, 2002, p. 341). Parents are