Documentary Analysis: Prader Willie Syndrome

Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.

Williams Syndrome is a genetic disorder that happens in the fetus stage and after birth. This syndrome is caused by the deletion of 26-28 genes in chromosome 7. Symptoms include facial deformities, trouble speaking, and the narrowing of the Aorta with many more symptoms.

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

Clinically, the oral findings were “high arched palate in all cases, malocclusion in 6 cases and macrostomia in 4 cases while multiple impactions of the teeth were detected in four patients” (Gataa, 2015, p. 7713). Additionally, only one patient had a cleft palate. From a radiographic perspective, all patients had zygomatic hypoplasia and seven patients had maxillary sinus hypoplasia. Many patients also had micrognathia and short ramus of the mandible. As only two patients had family history of TCS, six patients had TCS due to a new mutation. These results exemplify the notion that TCS patients are all affected differently, and with varying types and degrees of deformities, due to the fact that most cases arise from a new mutation.

Prader-Willi syndrome, (PWS) is a genetic disorder that occurs in about one in every eight thousand births in the United States. PWS occurs when there is a defect or deletion in the fifteenth chromosome from either maternal or paternal origins. Individuals diagnosed with PWS need enhanced supervision to address the constant need to over eat. Current research identifies that the paternal chromosome presents with significant maladaptive behaviors. Behavioral issues commonly known to the disorder differ dependent on the origin of the parental chromosome.

Jenny reports that she was born and raised in Vincennes, Indiana. She reports that she was raised by her biological parents. She reports that she has two older sisters, and one older brother. One of her older sisters has passed away. Her other two siblings live out of state. Jenny reports that she grew up Catholic, and went to Rivet High School. She stated that she is not as involved with her church as she used to be.

Exploring Autism in the Movie, Rain Man Autism is considered a unique disorder that affects 1 in 500 people. Autism impairs three main areas of human development: speech, communication, and social interaction. The trademark feature of autism is impaired social interaction. All impairments can range from mild to severe. Individuals with autism may lack speech altogether or only learn basic language specific to their needs.

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene (Nookala et al., 2012; Nickerson et al., 2002; Menko et al., 2012; Hartman et a., 2009). BHD patients develop fibrofolliculomas and lung cysts increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax (Nookala et a., 2012; Menko et al., 2012; Hartman et al., 2009). The majority of the BHD patient population contain germline mutations in FLCN exon 11. BHD research predicts FLCN mutations to result in a protein truncation of its c-terminal end, thus, suggesting the cause for its loss-of-function (Nookala et al., 2012; Nickerson et al., 2002; Schmidt et al., 2005; Toro et al., 2008). Due to BHD patients sharing clinical similarities with patients expressing mutations in tumor suppressor, TSC1/2, such as: facial harmotomas and RCC, promotes FLCN to function as a tumor suppressor (Hartman et al., 2009). Even though researchers hypothesized folliculin as a tumor suppressor, its exact molecular function remains elusive.

Towards the ends of the book, Willie undergoes another transformation. Since his speech, Willie has been a drunk, cheating husband who blackmails others to get what he wants. Also, Willie had made it clear that he wants to build a hospital for the people, which is the “legacy” he wants to leave behind. This goal of his was apparent since the very beginning of the book. Nevertheless, Willie used terrible means to achieve this goal; it even ended in one man committing suicide. During this time, we see a darker side to Willie and understand that he is no longer the same man he used to be. When Willie’s son, Tom Stark, gets into a football accident that leaves him close to death, Willie changes. He most likely finally figured out that his family

Raymond was diagnosed in the movie the Rain Man with having autism. The autism symptoms disorder had several of Raymond’s characteristics, such impairment in social interaction, and multiple nonverbal behaviors. In this moment the Medical Model applies in Raymond case, when Raymond as a patient and needed a specialist for his psychological, behavioral, or cognitive disabilities. (Cole). Raymond could not look at people eyes, and most of the times slouched down spoken to keeping on a conversation. He refuse any kind the touch or even any fast anticipation in his directions. Raymond did not like when Charlie tried to hug him, the action was accept even when Charlie tried to explain. Raymond proves to have a personality of his own, that most of the time irritates Charlie. In this time the Client Centered Model when the client with your disability and barriers try to have participation on the life (Cole). During the conversation Charlie was asked Raymond a question, and he often answered with a negative answer. Raymond had hard time to carrying a conversation, sometimes used short answer was his away to put people away from his world. Would never start up a conversation with others or acted like he wanted to be around others, most of the times he was in self word without pay attention in others conversation around. When Raymond meet new people he tensed up and did not want to look, or act like anyone was there or speaking with him. Similarly situation made Raymond nervous, like

Trisomy 13 otherwise known as Patau syndrome is a genetic disorder that affects 1 out of 5,000 newborns. This disease occurs when a person's 13th chromosome appears three times instead of the usual twice. Someone with Patau syndrome often have facial abnormalities, heart defects, very small or poorly developed eyes, brain or spinal cord defects, extra fingers and/or toes, cleft lips and/or palates, and weak muscle. To lower the chances of having a child with Patau syndrome one should get a (NIPT) test. A (NIPT) test is a prenatal test analysing the DNA fragments from the maternal plasma during a pregnancy. Also magnetic resonance imaging (MRI) or computerized axial tomography (CT) scans and chromosome studies can show if a person has Patau

According to Pennington, Down syndrome is one of the oldest and most common forms of mental retardation. In spite of this, not all people with Down syndrome suffer from mental retardation; yet when it manifest, it is severe in some. Consequently, severe cases could result in delays both mentally and physically. One developmental problem is having a smaller brain size. The smaller brain could cause a lost in short and/or long term memory. Considering the possibility of both parents suffering from memory lost, a supportive family and understanding how their brain compares with their child’s is imperative.

The Hollywood film Rain Man is about the Autistic disorder Savant syndrome. In Rain Man, Raymond Babbitt (played by Dustin Hoffman) has Savant Syndrome and his brother Charlie Babbitt (played by Tom Cruise) finds out about Raymond being his brother and that he is good with numbers so Charlie decides to use his brother to make money. Over the course of the time that Charlie and Raymond are together, they become closer and Charlie is not just using Raymond for money. Hollywood portrays Savant syndrome accurately compared to what the APA says about Savant.

As the dark clouds rolled over the mountains, raging with rain, one could hear the crackling of thunder shake the whole high school. A kid with down syndrome beginning to panic in the corner of the Integrated Learning Services room due to the hatred of loud noises. Soon after the sounds intensified another young man walks over to the scared to death students, sits by him, and tells him that everything is going to be okay. This kid who helped create a sense of calm to that young man with down syndrome was Cory Breslin. Cory also has down syndrome, but he does not let that burden that was put on him slow him down. He is the shining light on a gloomy day, packed with happiness and joy that radiates off him.

Goodnight Mister Tom Character Essay: Willie Beech Love and support is the key to change and recovery. During the Second World War the main character in Goodnight Mister Tom by Michelle Magorian, William ‘Willie’ Beech is sent to live with Mister Tom Oakley in Little Weirwold, as it was not safe to stay in London. 8 year old, Willie significantly changes from being a scared, shy, abused and lonely boy, to being happy, safe and cared for as the book progresses. Through this character change, the author helps us to understand how important a safe and comfortable home and stable friendships are to deal with hard times.