Prader-Willi Syndrome - Essay Example

Prader-Willi Syndrome Author: Institution: Introduction Prader-Willi syndrome (PWS) is a genetic disorder that is highly variable, and its prevalence is said to be in 1 in 10,000 or 1 in 30,000. Identified as neurobehavioral disorders, it is said to occur when the paternal chromosome 15q11.2-q13 lacks genes expression. When the paternal alleles are either silenced, missing or defective, then PWS develops. It is said that 70 percent of the PWS cases are a result of deletion of the q11.2-q13 from the paternal chromosome while 25 percent of the cases are due to maternal uniparental disomy where the maternal chromosome fails to separate itself and hence is passed to the infant. PWS is known to affect multiple systems. In small cases, PWS can be due to the translocation of the maternal chromosome from the q11.2-q13 to the paternal chromosome (Jessica). With advanced studies, genetic tests have become more precise and thus PWS in different people have been attributed to different genetic subtypes. The DNA methylation analysis is a simple molecular test that is performed and is known to detect more than 99 percent of the diagnosis. Other tests such as Fluorescence in situ hybridization (FISH) can be done. It has the benefit of being able to detect the chromosome 15q11.2-q13 from the proband only (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). Most common characteristic of the manifestation in infants is hypotonia that results into poor suck, and thus the baby is unable to grow. This then progresses to become hyperphagia. Other features that manifest include; delayed development, short stature, psychiatric phenotype, behavioral problems, learning disabilities and, morbid obesity (Suzanne & Daniel, 2008). Obesity and hyperphagia PWS is associated with four phases. The first phase is characterized by poor feeding that results in failure to thrive. This phase occurs in the early stages in after birth till around the age of two. The measures taken in this stage involve feeding the baby using tubes. Once this phase is over, the child is seen to grow well, and the growth curve is said to be normal. After a while, the weight starts to show and this marks the second phase. This phase occurs between 18 months and 36 months. The child is seen to grow beyond two or more percentile of weight. The weight is not necessarily due to increased intake of calories. The weight manifests itself even when the child has no interest in food. The third phase occurs from the age of three and can extend to as long as the fifteen years. In this phase, the child seeks food aggressively and eats way beyond their satiety. Most people can identify PWS at this stage. The child gets hungry so frequently even after eating. It is said that if the child is allowed free access to food, then they would eat three times what a normal child would eat. In the fourth phase, the appetite is still huge but the aggression is no longer there. The phase often occurs when the individual is past the age of thirty (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). By their second decade, people with PWS are said to be short structured. This is due to the failure of growth hormone secretion. Some of the physical challenges faced by people with PWS include limited sports activities. The individual is unable to run or jump since their muscles are weak and poorly coordinated. Due to osteoporosis, they are faced with the risk of bone fracture (Jill & Karen, 2013). 25 percent of adults around the age of 20 years have been found with type 2 diabetes. One of the ways to help people with PWS deal with obesity and to fight off diabetes is having an environmental control. This involves early diet balancing, controlled access to food or money, engaging them in vigorous exercise and low-calorie intake. Considering growth hormone replacement plan can be a good measure to help come up with a healthy growth curve (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). Learning and Social Intellectual Function Every milestone in children with PWS is achieved at almost twice the duration of their peers. For example it would take a normal child 12 months to start working, a child with PWS takes 24 months. The IQ in people with PWS has been noted to be 40 points lower than that of normal people. This has therefore led to the link between PWS with Intellectual Disability. However, it has been noted that, unlike other cases of intellectual disability, people with PWS have exhibited strength in reading than in working out numbers. They can learn more from seeing than from listening (Jessica). The strong suits of people with PWS regarding their cognitive profile is characterized by; long-term memory, their ability to perceive things visually, they develop good reading skills, visuospatial functions due to their capacity to solve puzzles and capable of simultaneous processing. Their weak areas lie in short-term memory, action based visual processes, auditory processing, arithmetic, social cognition and language abilities. Their inability to be socially cognitive is not wholly based on their maladaptive behavior but extends to their failure to comprehend social information passed through nonverbal cues, facial expressions, and emotions. Research done has proven that children with PWS were able to detect a sequence by practically doing it. This was after they were presented with the challenge to do so by observation or by doing it. The conclusion was that their inability to understand and for the sequence of observation may be linked to their inability to process social information (Francesca, Deny, Enzo, Cristina & Antonio, 2015). Obsessive-compulsive behavior Reports have linked PWS to Obsessive Compulsive Disorder (OCD). A research done to test the hypothesis revealed that people with PWS had a high ritualistic behavior rates. It was evidenced that they are persistent in asking or telling something. They insist on a particular routine, hoarding on objects and kept doing and saying the same thing. However, common traits associated with OCD such as excessive cleaning, obsessional thoughts, and counting were not displayed (Clarke, Boer, Whittington & Webb, 2002). Unlike other OCD cases where repetitive behavior is aimed at reducing anxiety, children with PWS engage in the repetitive behavior because they enjoy the routine. Studies also show that the behaviors displayed in people with PWS were more similar to those who had autism spectrum disorder that to OCD. Other common behaviors include skin picking, temper tantrums, and fluctuations in their mood. Skin picking is quite common in people with PWS. It has been said to have an early or late onset and is prevalent among females. It has been noted that adults and older children with PWS exhibit high levels of compulsion than other children with development delay. Approximately 6-28 percent of people with PWS are said to show psychotic behaviors. This has been shown to occur in the age brackets of thirteen to twenty-six. Maladaptive behavior has been noticed in people with PWS especially those in their 20’s (Alan & Anastasia, 2010). Various habits in persons with PWS should not be looked at as a disease that needs treatment, rather, should be from a managerial perspective. Once the mood swings, tempers, skin picking and other typical behaviors start to show, the caregivers should come up with a consistent plan to deal with the behaviors. If the managerial plan is inconsistent, then the chances are that the behavior is bound to reoccur in future. The first step in the administrative process is to identify the environmental or personal factors that trigger certain behaviors. Then, come up with the strategy to be used by all those around to help deal with the behaviors. Finally, implement the plan (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). Hypogonadism and Transition in Puberty In both male and female, hypogonadism is manifested throughout the individual’s life. During puberty, people with PWS do not develop fully, and infertility is common among most of them. In males, a small hypoplastic scrotum that is poorly pigmented is witnessed. The penis may or may not be small. Also seen in the males, is scanty body hair and beard and poor voice change. In females, the clitoris and labia are hypoplastic. Also, precocious adrenarche is said to occur in 20 percent of the population with PWS. Nothing is known about sexually related activates among people with PWS. However, in rare cases, some females have been reported to be pregnant. It is noted that at one point, individuals with PWS should undergo hormonal treatment to help transition through puberty (Suzanne & Daniel, 2008). The transition into adulthood is usually a challenge for people with PWS. The sexual, psychological, social and financial changes can be a challenge. One of the best ways to deal with this issues wholly depends on early diagnosis. This allows the families and caregivers to take up early measures such as multi-disciplinary and use of growth hormones to help in the transition. Sex steroids have been used in adults with PWS. The steroids have been known to have benefits to help counter the bone mineral deficiency. This will help keep the bones healthy, has been said to have mental benefits, give muscles metabolic protection and general physical wellbeing of the individual (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). Sleep-related sleeping disorders Obstructive sleep apnea syndrome (OSAS) is one of the breathing disorders associated with PWS. This is caused by several factors among them kyphoscoliosis, sticky saliva, obesity, narrow upper airways combined with ade no tonsillar hypertrophy. The risks faced by those having OSAS include cor pulmonale that is important in aiding the mobility of an individual with PWS, hypertension, and cardiovascular diseases. People with PWS tend to sleep too much during the day and have abnormally rapid eye movement. OSAS has been linked with low mental development, impulsive behavior, and autistic related behaviors. One of the approaches used to deal with the sleeping disorders includes the use of growth hormones. It had been noted that within 6 to 9 months of using the growth hormones, there was significant improvement in carbon (IV) oxide responsiveness, the individual’s airway occlusion pressure improved and so did the resting ventilation. The apnea-hypopnea index had decreased within six months of using the growth hormones in a research study conducted in 12 children with PWS. It is important that caregivers pay close attention to the breathing and obesity issues before and after commencing the use of growth hormones (Goldstone, Holland, Hauffa, Hokken & Tauber, 2008). Conclusion PWS does not have a cure. However, early diagnosis is the best thing that can happen to a person with PWS. In childhood, the parents are tasked with the responsibility of acting in the child’s best interest. The multidisciplinary measures may seem harsh and unfair but in so doing, the parents are doing what is best. As the child grows up, the challenge is based on the need to want to be a person of their own. The parents may be torn between knowing when to respect the individual’s interest and when to make decisions for them. Coming up with a system that will help them live their life while still controlling what they eat and how they spend their money is an important thing. Seeking to accept and deal with the challenges in various stages can help the children and their families live a happy life. The use of professionals in their physical activates and in their learning processes can help them have a good start. Coming up with a management plan and sticking to it with relieve the caregivers the burden of dealing with outbursts during transition stages. At the end of it, achieving a holistic individual that can fit in the society should be the key focus. References Jill E. & Karen S., 2013, Endocrine manifestations and management of Prader-Willi syndrome, International Journal of Pediatric Endocrinology, Issue 14. Goldstone P., Holland B., Hauffa A., Hokken-Koelega C. & Tauber M., 2008, Recommendations for the Diagnosis and Management of Prader- Willi Syndrome, The Journal of Clinical Endocrinology & Metabolism. Vol. 93: 4183-4197. Suzanne B & Daniel J., 2008, Prader- Willi Syndrome, European Journal of Human Genetics, Pg. 1-11. Francesca F., Deny M., Enzo O., Cristina R. & Antonio C., 2015, Learning by Observation and Learning by Doing in Prader- Willi Syndrome, Journal of Neurodevelopment Disorders, vol. 7:6 Jessica R., Psychological Profiles Associated with Prader-Willi Syndrome, Lynchburg College Alan Y. & Anastasia D., 2010, Clinical Management of Behavioral Characteristics of Prader-Willi Syndrome, Neuropsychiatr Dis Treat. Vol. 6: 107-118. Clarke D., Boer J., Whittington A., Holland J. & Butler J., 2002, Prader-Willi Syndrome, Compulsive and Ritualistic Behaviours: the first population-based survey, The British Journal of Psychiatry, vol. 180:4, pg. 358-362. Read More