BIOPSYCHOLOGY WK 7 It will be a thorough review and discussion of a disorder you chose from the list below when completing your Week 3 Paper Preparation assignment. It is important to note that this i
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A Multifaceted Approach to Treatment of Prader-Willi Syndrome
Student Name
American Public University
Date
Abstract
Prader-Willi Syndrome is a genetic disorder that has psychiatric, behavioral, physical, emotional, and environmental components. Some of these include stunted growth, hypotonia, obsessive-compulsive behaviors, social difficulties, and obesity. Due to the wide-reaching and complex nature of this disorder, a multifaceted approach must be taken in Prader-Willi Syndrome patients. This approach can include pharmacological intervention, cognitive behavior therapy, and environmental control. The purpose of this well-rounded approach is to increase the quality of life for patients with Prader-Willi Syndrome. Research shows that by addressing every aspect of the symptoms of Prader-Willi Syndrome, the patient is better able to adjust to life in spite of the disorder.
A Multifaceted Approach to Treatment of Prader-Willi Syndrome
Introduction
The purpose of this paper is to show that a multifaceted approach needs to be undertaken in the treatment of Prader-Willi Syndrome. Prader-Willi Syndrome is a genetic disorder that has psychiatric, behavioral, physical, emotional, and environmental components. All of these must be addressed in order to improve the quality of life in a patient with Prader-Willi Syndrome. Symptoms such as hypotonia and stunted growth can be seen as early as infancy. Obsessive and compulsive behaviors involving food, skin picking, and ritualistic organizing begin around age two. Throughout their lifetime, those with Prader-Willi Syndrome are at high risk of social difficulties, diabetes, and obesity (Woodcock, 2009).
The purpose of these studies is to show that the treatment of Prader-Willi Syndrome needs to be a well-rounded one. One study gives an overview of the cognitive functioning, maladaptive behaviors, intervention, management, and pharmacotherapy involved in a patient with Prader-Willi Syndrome (Dykens & Shah, 2003). This article will give a better understanding of the epidemiology and management of this disorder. The second study states that individuals with Prader-Willi Syndrome exhibit significant clinical levels of internalizing and externalizing distress (Reddy & Pfeiffer, 2007). This article emphasizes the statistically higher instances of psychopathology in sufferers of Prader-Willi Syndrome. The third study examines a pathway between genetic characteristics and behavior profiles in Prader-Willi Syndrome. This article shows that there is an association between the behavior of the Prader-Willi sufferer with the environment and genetic components (Woodcock, Oliver, & Humphreys, 2009). The fourth study gives a specific example of how the medication Risperidone can successfully aid Prader-Willi patients in decreasing aggressiveness and impulsiveness, as well as controlling their insatiable need for food. This article shows the benefits of pharmacological intervention in the treatment of Prader-Willi Syndrome. The final study examines the benefits of occupational therapy in patients with Prader-Willi Syndrome. This article promotes creative play in order to help the Prader-Willi patient increase his comfort level in social situations. All of these studies will show the best approach to treatment of Prader-Willi Syndrome is one that incorporates genetics, environment, and emotion.
Thesis
The purpose of this paper is to show that by combining behavioral therapy, environmental control, and pharmacology when necessary, the quality of life of individuals with Prader-Willi Syndrome can be increased. By reviewing multiple studies, this paper will be able to show that Prader-Willi Syndrome requires a multifaceted approach to treatment, due to the epigenetic etiology of this disorder. The interest in preparing this paper comes from the need for a more complete understanding of the well-rounded approach needed in the treatment of Prader-Willi Syndrome. By considering the epigenetic etiology of this disorder, researchers can continue to find more effective ways to increase the quality of life for these individuals.
History
Before Prader-Willi Syndrome was officially named as a disorder, it was described by Charles Dickens. In 1836, Dickens created a character named Joe in The Pickwick Papers. Dickens defined Joe’s physical characteristics as fat, red-faced, and being in a state of somnolency (Wickens, 2009). This account resembled the disorder that would finally be recognized in 1956 by Prader, Labhart, and Willi (Reddy & Pfeiffer, 2007). Early on, researchers discovered that individuals with Prader-Willi Syndrome all have similar physical characteristics. These include stunted growth and obesity due to an insatiable obsession with food (Wickens, 2009). Stunted growth and obesity can be compared to the overweight, sleepy boy that was outlined in Dickens’ literary work. The historical perspective of individuals with Prader-Will Syndrome is that in addition to the similar physical characteristics, they also share congruent psychiatric and behavioral attributes.
This view has not changed over time. Researchers have been able to build on this information in order to create a more complete picture of the causes and symptoms of Prader-Willi Syndrome. Currently, there is no cure for Prader-Willi Syndrome. However, multiple studies have been conducted in order to analyze the best treatment options for patients with Prader-Willi Syndrome. The focus throughout the history of this disorder has been to improve the quality of life as much as possible for these patients. This has been achieved through pharmacological intervention, cognitive behavior therapy, occupational therapy, environmental supervision, and parental involvement. Advances are being made in multifaceted approaches to treatment of Prader-Willi Syndrome. Researchers are finding that treating all aspects of this disorder’s symptomatology gives the best hope for these patients to live a more fulfilling life.
Epigenetic Etiology
Prader-Willi Syndrome is a disorder with both genetic and environmental causes. Genetically, seventy percent of the cases are caused by the deletion of active genes from the long arm of chromosome 15 during the early stages of fetal development (Wickens, 2009). This is a lack of paternally derived imprinted information to that chromosome (Dykens & Shah, 2003). Twenty-five percent of the cases are a result of an individual inheriting two copies of chromosome 15 from the mother, instead of one from each parent (Wickens, 2009). The remaining cases are due to chromosomal translocations or defects of the imprinting center (Woodcock, Oliver, & Humphreys, 2009). Prader-Willi Syndrome is the first known human disorder that shows the effects of genomic imprinting (Dykens & Shah, 2003).
In addition to the genetic aspect, the environment also plays a role in this disorder. Research has suggested there are at least two pathways that exist between the genetic traits and behaviors common in Prader-Willi Syndrome (Woodcock, Oliver, & Humphreys, 2009). The first pathway is created by the effect of the genetic status of an individual with Prader-Willi Syndrome. The patient’s development of the central nervous system is altered, which causes the patient to be extremely sensitive to change (Woodcock, Oliver, & Humphreys, 2009). Thus, if the patient’s environment is disrupted, the genetic component of the patient causes negative emotional behavior. The second pathway relates to the pattern of behavior the patient exhibits when aversive stimuli are present (Woodcock, Oliver, & Humphreys, 2009). If the environment is not conducive to the patient’s need for specific routine, the genetic component of Prader-Willi Syndrome causes the patient to become explosively angry and anxious.
Prader-Willi Syndrome is an inherited condition due to the mutations to several genes (Wickens, 2009). However, the environment has a very large impact on these patients. Prader-Willi Syndrome is a disorder in which the environmental effects on a genetically predisposed behavior can be seen in the patient as a clear gene-environment interaction (Woodcock, Oliver, & Humphreys, 2009). This disorder causes genetic physical, behavioral, psychiatric and emotional symptoms. In addition, the patient’s environment is an important part of helping these patients live a quality and lower stress-filled life.
Symptoms and Treatments
Prader-Willi Syndrome affects 1 in 10,000 to 1 in 25,000 people (Wickens, 2009). Prader-Willi patients exhibit physical, cognitive, psychological, and behavioral symptoms. Physical symptoms can be seen as early as infancy with almond shaped eyes, narrow forehead, downturned lips, hypotonia (weak muscle tone) and feeding difficulties (Wickens, 2009). As the child grows, stunted growth, poor motor coordination, and abnormal sleeping patterns become apparent (Wickens, 2009). Probably the most dangerous physical symptoms that Prader-Willi Syndrome patients suffer from are obesity and diabetes. These patients have a reduced metabolic rate, as well as a ratio of high fat versus lean body mass, so they require fewer calories than average (Wickens, 2009). Unfortunately, another symptom of Prader-Willi Syndrome is an insatiable obsession with food that appears around ages 2 to 4 years old (Wickens, 2009). These patients never feel full, so weight gain and the resulting complications are common among this population. Cognitively, Prader-Willi patients are challenged with learning disabilities and weakness in short-term memory, with the average IQ being 65 to 70 (Dykens & Shah, 2003).
Prader-Willi Syndrome patients also suffer from psychological symptoms. Researchers have found that these patients experience clinical levels of psychopathology in both internalizing and externalizing disorders (Reddy & Pfeiffer, 2007). Some of these include anxiety, sadness, low self-esteem, withdrawal, isolation, negativity, and (more rarely) visual or auditory hallucinations (Dykens & Shah, 2003). Probably the most debilitating psychological symptom patients with Prader-Willi Syndrome endure is obsessive-compulsive behavior. The obsessive behavior is manifested through hoarding, repeated questioning, repetitive rituals (such as arranging objects by color or shape), skin picking, and obsession with food (Dykens & Shah, 2003).
Individuals with Prader-Willi Syndrome are also prone to behavioral symptoms. Many of these can be witnessed when there is an uncomfortable change in environment or when food is withheld. Some of these can include violent temper tantrums, extreme stubbornness, irritability, impulsivity, emotional lability, and disobedience (Reddy & Pfeiffer, 2006). The gene status of Prader-Willi Syndrome affects nervous system development, which gives these patients a predisposition to anxiety and an aversion to change. Thus, when their routine is unsettled or they are not allowed food to satisfy their constant hunger, they have a very difficult time coping.
A multifaceted approach to treatment of individuals with Prader-Willi Syndrome is the best way to increase their quality of life. Some of these treatments are patient-focused and some are targeted to the environment and the patient’s support system. Some patient-focused treatments include growth hormone therapy for short stature, poor muscle mass and tone, speech-language therapy to improve articulation, social skills training, pharmacological intervention for anxiety and obsessive behaviors, and cognitive-behavior and occupational therapy (Dykens & Shah, 2003). These treatments involve the patients in their own care by giving them the tools to feel empowered and communicate with others. Other treatments teach the patient’s caretakers how to best assist the patient with his nutritional needs and subsequent behavioral issues. These treatments include a very strict, low-calorie diet, consistent weigh-ins, regular physical activity, locks on the refrigerator and cabinets if needed, daily routine, and transitional cues before changes occur (Dykens & Shah, 2003). Close supervision of the patient and the patient’s environment is important. Hyperphagia drives these patients to go to any lengths to acquire food because they never feel full. This is what leads to obesity and diabetes, which can be deadly for the patient. Caregivers must be vigilant and remember that controlling the patient’s food intake is in the best interest of the patient. Scheduling meals, snacks, and exercise can guide the patient to understand what to expect throughout the day. Not only will this help to maintain the patient’s weight, but it will also satisfy the patient’s need for routine. Consistency is the key to lower stress levels and an increased quality of life for individuals who suffer from Prader-Willi Syndrome.
Research Articles Evaluation and Summation
The first research article gives an overview of the cognitive functioning, maladaptive behaviors, intervention, management, and pharmacotherapy involved in a patient with Prader-Willi Syndrome (Dykens & Shah, 2003). The purpose of this study is to give a better understanding of the epidemiology and management of this disorder. According to this article, patients suffer from hyperphaiga, employ a high risk of nonfood, compulsive behaviors, function in the mild range of intellectual disability, are prone to severe behavioral problems, have a high rate of obsessive-compulsive symptoms, and sometimes show psychotic symptoms (Dykens & Shah, 2003). This article outlines a multifaceted treatment plan for individuals who suffer from Prader-Willi Syndrome. These treatments include growth hormone therapy, physical and occupational therapies, speech-language therapy, social skills training, close supervision around food, an exercise plan, a daily routine, and pharmacotherapy in some cases (Dykens & Shah, 2003). The authors emphasize the benefits of the medication-free treatment routes. However, they do examine research that has shown that some medications (such as Mazindol, Fenfluramine, and SSRIs) have successfully decreased some patients’ symptoms (Dykens & Shah, 2003).
The second research article states that individuals with Prader-Willi Syndrome exhibit significant clinical levels of internalizing and externalizing distress (Reddy & Pfeiffer, 2007). This study emphasizes the statistically higher instances of psychopathology in sufferers of Prader-Willi Syndrome. The authors chose 73 children and adolescents aged from 7 to 21 years as participants in this study. Diagnoses ranged from Prader-Willi Syndrome only, mental retardation only, and mental retardation with a coexisting psychiatric disorder (Reddy & Pfeiffer, 2007). The participants’ levels of psychopathology was rated using the Devereux Scales of Mental Disorders, clinical interviews were given, and MANOVAs and d-ratios were used for data analysis (Reddy & Pfeiffer, 2007). The results show that the children and adolescents with Prader-Willi Syndrome displayed significantly higher levels of psychopathology than their mental retardation only peers, and also were comparable to those who have comorbidity.
The third research article examines a pathway between genetic characteristics and behavior profiles in Prader-Willi Syndrome. This study shows that there is an association between the behavior of the Prader-Willi sufferer with the environment and genetic components (Woodcock, Oliver, & Humphreys, 2009). The authors create a hypothetical model that combines relative knowledge with ideas of future study. This allows a comprehensive model to be built that identifies important influences without the necessity of details (Woodcock, Oliver & Humphreys, 2009). This model outlines hypotheses related to specific behaviors in individuals with Prader-Will Syndrome, how they are interrelated, and how they could be tested (Woodcock, Oliver, & Humphreys, 2009). For example, the authors hypothesize that neural abnormalities in areas of the prefrontal, anterior cingulate, and parietal cortices may be the cause of the task-switching deficit in these patients (Woodcock, Oliver, & Humphreys, 2009). The authors then state that this hypothesis could be tested by using an MRI while the patient is completing a task-switching activity.
The fourth research article gives a specific example of how the medication Risperidone can successfully aid Prader-Willi patients in decreasing aggressiveness and impulsiveness, as well as controlling their insatiable need for food. This study shows the benefits of pharmacological intervention in the treatment of Prader-Willi Syndrome. The authors discuss the case study of an 11-year old boy who was diagnosed with Prader-Willi Syndrome. Previously, he had been given Mazindol and Fluvoxamine, however his symptoms showed no improvement. After being admitted to the psychiatric department of a hospital, he was prescribed Risperidone. Risperidone is an atypical antipsychotic agent which is an antagonist against dopamine D2 and serotonin 2A receptors (Shunsuke, Ohji, Shiota, Dobashi, Shimono, & Shirahata, 2010). Due to the medication, there was a decrease in impulsiveness and aggressiveness.
The final research article examines the benefits of occupational therapy in patients with Prader-Willi Syndrome. This study promotes creative play in order to help the Prader-Willi patient increase his comfort level in social situations. The authors analyze a case study involving a 5 year old boy named Felipe. Felipe has Prader-Willi Syndrome and turns to his own activities (such as puzzles) for comfort (Takatori & Oshiro, 2009). Having trouble with new social situations and change, his parents decided to pursue occupational therapy for treatment. The therapist made adaptations of devices in order to make play easier for Felipe, built a slow trust with him, and found different ways to play the games he was comfortable with. The occupational therapy resulted in an increase in autonomy, classroom participation, and activity participation (Takatori & Oshiro, 2009).
Synthesis and Conclusion
Prader-Willi Syndrome is a disorder that is apparent from infancy and has no cure. Many of the symptoms are caused by the gene status of Prader-Willi. One example of this is slow development and sexual maturation. Research has shown that these could be due to the dysfunction of the hypothalamic-pituitary axis (Wickens, 2009). Another example is the eating abnormalities that these patients suffer from. Research has found that a reduction of the appetite- suppressing oxytocin-containing cells have been found in these patients (Wickens, 2009). There are also environmental factors involved in Prader-Willi Syndrome. This disorder affects nervous system development. This causes the patient to have a predisposition to anxiety and an aversion to change. Thus, the environment has a direct effect on the patient’s emotional well-being. Individuals with Prader-Willi Syndrome prefer routine and consistency. They have difficulty adjusting to change. If there is an unexpected alteration in schedule, the patient will act out in the form of temper tantrums, skin picking, or rebellion. These behaviors can also be witnessed if food is withheld from the patient. This is because they suffer from hyperphagia and never feel full.
Genetics and the environment both play a role in Prader-Willi Syndrome. They cause psychiatric, behavioral, cognitive, physical, and emotional symptoms in the patient. Due to the complex nature of this disorder, all aspects must be addressed in order to give the patient the help he needs. Treatment should consist of cognitive-behavior and occupational therapy, environmental control, and pharmacological intervention when necessary. Both the patient and the patient’s support system should be actively involved in treatment. Through the research articles discussed, it has been shown that a multifaceted approach to treatment is the most effective way to increase the quality of life for individuals who suffer from Prader-Willi Syndrome.
References:
Araki, S., Ohji, T., Shiota, N., Dobashi, K., Shimono, M., & Shirahata, A. (2010). Successful
Risperidone Treatment for Behavioral Disturbances in Prader–Willi Syndrome. Pediatrics International, 52(1), e1-e3. doi:10.1111/j.1442-200X.2009.02996.x
Dykens, E., & Shah, B. (2003). Psychiatric Disorders in Prader-Willi Syndrome: Epidemiology
and Management. CNS Drugs, (17)3, 167-178. Retrieved from EBSCOhost.
Reddy, L. A., & Pfeiffer, S. I. (2007). Behavioral and Emotional Symptoms of Children and
Adolescents with Prader-Willi Syndrome. Journal of Autism & Developmental
Disorders, 37(5), 830-839. doi:10.1007/s10803-006-0210-2
Takatori, M., & Oshiro, M. (2009). Playing to Create New Ways of Playing: A Child With
Prader–Willi Syndrome. Journal of Developmental & Physical Disabilities, 21(2), 139-152. doi:10.1007/s10882-009-9132-1
Wickens, A. (2009). Introduction to Biopsychology (3rd Edition). London: Pearson/Prentice
Hall.
Woodcock, K. A., Oliver, C. C., & Humphreys, G. W. (2009). A Specific Pathway Can Be
Identified Between Genetic Characteristics and Behavior Profiles in Prader-Willi
Syndrome Via Cognitive, Environmental and Physiological Mechanisms. Journal
of Intellectual Disability Research, 53(6), 493-500.
doi:10.1111/j.1365-2788.2009.01167.x
Annotated Bibliography
Araki, S., Ohji, T., Shiota, N., Dobashi, K., Shimono, M., & Shirahata, A. (2010). Successful
Risperidone Treatment for Behavioral Disturbances in Prader–Willi Syndrome. Pediatrics International, 52(1), e1-e3. doi:10.1111/j.1442-200X.2009.02996.x
This article analyzes a case study of a pharmacological treatment on a child with
Prader-Willi Syndrome. The authors discuss how a combination of cognitive behavioral therapy and the medication Risperidone helped an 11 year old boy with Prader-Willi Syndrome improve his lifestyle. Risperidone successfully decreased instances of impulsiveness and aggressiveness. The medication also had no reported side effects. I will use this research to highlight the positive use of medication in the treatment of Prader-Willi Syndrome.
Dykens, E., & Shah, B. (2003). Psychiatric Disorders in Prader-Willi Syndrome: Epidemiology
and Management. CNS Drugs, (17)3, 167-178. Retrieved from EBSCOhost.
This article discusses an overall comprehensive review of the epidemiology and management of Prader-Willi Syndrome (PWS). Behavioral and psychiatric problems that are the hallmark of this disorder are addressed. Some of these include obsessive-compulsive behaviors, hyperphagia, and other maladaptive behaviors according to genetic subtypes (paternal versus maternal deletion). This article is relevant to my research by showing the consistency of similarity regarding genetics and behavior in patients with PWS. The information regarding treatment of PWS is also relevant to my research, as this article shows a multifaceted approach.
Reddy, L. A., & Pfeiffer, S. I. (2007). Behavioral and Emotional Symptoms of Children and
Adolescents with Prader-Willi Syndrome. Journal of Autism & Developmental
Disorders, 37(5), 830-839. doi:10.1007/s10803-006-0210-2
This article discusses how individuals with Prader-Willi Syndrome face extreme obstacles in adaptive functioning due to their biological, cognitive, behavioral, and emotional challenges. The debilitating aspects of their symptoms, such as obesity, diabetes, self-injury and public temper outbursts, are examined. This study compares the levels of psychopathology in children and adolescents with PWS with those who are diagnosed with mental retardation only and those diagnosed with comorbidity. This article is relevant to my research by showing that individuals with PWS suffer from a significant clinical level of internalizing and externalizing distress, compared to those with mental retardation only. The PWS sufferers scored comparably with peers who suffer comorbidity. I will use this research to help show the complexity of this disorder.
Takatori, M., & Oshiro, M. (2009). Playing to Create New Ways of Playing: A Child With
Prader–Willi Syndrome. Journal of Developmental & Physical Disabilities, 21(2), 139-152. doi:10.1007/s10882-009-9132-1
This article evaluates the option of creating new ways to play that will assist the Prader-Willi Syndrome sufferer with discovering new ways to communicate socially. Occupational therapy is used to help the patient experience situations in ways that can be used in everyday life interactions. Brazilian therapeutical conduct is demonstrated. By guiding the child to different ways of playing, the therapist creates an environment where the child feels safe with experimenting with routines that are out of his norm. This article will be used to show that a child with Prader-Willi Syndrome can be helped in regards to social situations.
Wickens, A. (2009). Introduction to Biopsychology (3rd Edition). London: Pearson/Prentice
Hall.
The information from our textbook discusses a little of the history of Prader-Will Syndrome. It mentions the statistics of the number of occurrences. The textbook also gives a timeline of which symptoms can be observed during which stage of the individual’s life. This information is relevant to my research because it outlines general information. Along with the symptoms, the textbook gives an explanation of the genetic factors of PWS. This is important to mention in my paper because it shows how a biological explanation can help to foster treatment options.
Woodcock, K. A., Oliver, C. C., & Humphreys, G. W. (2009). A Specific Pathway Can Be
Identified Between Genetic Characteristics and Behavior Profiles in Prader-Willi
Syndrome Via Cognitive, Environmental and Physiological Mechanisms. Journal
of Intellectual Disability Research, 53(6), 493-500.
doi:10.1111/j.1365-2788.2009.01167.x
This article discusses the interaction between the genetic predispositions for behavior of individuals with PWS with their environmental influences. There are a number of hypotheses that are mentioned, along with how they may be tested. These hypotheses have a biological, environmental, and emotional basis. This article is relevant to my research by showing a hypothetical model that takes into account important influences of PWS. I will use this examination of a pathway between genetics and behavior through cognitive, environmental and physiological mechanisms in order to pinpoint the importance of a well-rounded treatment plan.
