...SPED 510 Prader-Willi Syndrome Tonya M. Exum Governor’s State University March 23, 2010 Prader-Willi Syndrome Introduction Prader-Willi Ѕyndrome iѕ a genetic diѕorder. Itѕ featureѕ include food obѕeѕѕion, ѕhortneѕѕ of ѕtature and poor muѕcle tone. It affectѕ boyѕ and girlѕ, and occurѕ in familieѕ from all backgroundѕ. Reѕearch indicateѕ that PWЅ may reѕult becauѕe of four different genetic abnormalitieѕ on chromoѕome 15. In approximately two thirdѕ of caѕeѕ the diѕorder happenѕ becauѕe of a bit miѕѕing affecting chromoѕome 15 coming from the father. In about 30% of caѕeѕ both copieѕ of the chromoѕome are inherited from the mother, inѕtead of one from her and one from the father. A child iѕ born with the condition and currently there iѕ no cure apart from good management. In the vaѕt majority of caѕeѕ, there iѕ only a very ѕmall chance of reoccurrence within a family. (Udwin et.al 2002) Diѕcuѕѕion Many people with PWЅ have typical phyѕical characteriѕticѕ (although there are exceptionѕ) fairer hair and eye colouringѕ than otherѕ in the family, ѕmall handѕ feet (more obviouѕ in older children), almond ѕhaped eyeѕ. Theѕe typical featureѕ are more likely to occur in thoѕe who have a deletion in chromoѕome 15. In thoѕe who are obeѕe, fat iѕ uѕually diѕtributed around the ѕtomach and trunk. Children who have received growth hormone treatment are more likely to be taller and have larger handѕ and feet. Ѕome children will have other phyѕical diѕabilitieѕ...
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...Different types of disorders Project in Elective Definition: Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Described as an inborn error of amino acid metabolism, phenylketonuria (PKU) was the first genetic disorder found to be due to a specific enzyme deficiency, resulting in a patient's inability to metabolise a specific amino acid appropriately. Classical PKU is caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Over 70 different mutations on the PAH gene found on Chromosome 12 have been found to cause the almost complete absence of PAH as seen in PKU patients. PKU patients deficient in PAH are unable to metabolise the amino acid phenylalanine leading to an accumulation of phenylalanine and it's metabolites within the body. PKU is an example of an autosomal recessive disorder. Causes Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait. Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein. Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the...
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...Assignment 2: Annotated Outline and Reference List for Literature Review by John Doe EDD 9200 CRN 24329 Trends and Issues: Society, the Individual, and the Professions Nova Southeastern University November 08, 2010 Topic: The Increase of Obesity Amongst Teens has Damaging Effects I. Introduction A. Establish the understanding of the topic 1. What is obesity? Cite definitions and characteristics of obesity ( ). 2. Define teen and identify normal weight criteria ( ). 3. Causes of Obesity a. Genetics 1. Predisposition from heredity factors such as Bardet-Biedel syndrome and Prader-Willi syndrome ( ) 2. Metabolism Disorders (Keast, Nicklas, & O'Neil, 2010). b. Diseases and Drugs 1. Cushing disease 2. Polycystic Ovary syndrome 3. Steroids 4. Antidepressant c. Lifestyle and eating habits; energy imbalance 1. Increased consumption of fast food (Keast, Nicklas, & O'Neil, 2010). 2. Increased time with media (T.V., computer games) ( ) 3. Increased time communicating on phones ( ) d. Social opinions of overweight individuals 1. Cultures identify overweight people as lazy, stupid, and slow. 2. Effects of negative attitudes expressed towards obese teens. e. Increased emotional disorders (i.e. anxiety, depression) ( ) B. Additional factors affecting obesity in teenagers 1. Low self-perception and self-esteem 2. Social isolation 3. Reduction in physical activity C. Health consequences of overweight ...
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...Intellectual and Developmental Disabilities and Emotional or Behavioral Disorders Natasha Hoaglen California State University, Chico Intellectual and Developmental Disabilities and Emotional or Behavioral Disorders Intellectual and Developmental Disabilities and Emotional or Behavioral Disorders are complex disabilities and disorders that are hard for families to deal with not to mention the person enduring them. Such disabilities or disorders may seem very challenging or impossible to overcome and become successful, however throughout this paper it will be evident that it’s not the case. It is possible to succeed, when educators and families work together to provides services to students so they can become the best them. The purpose of this paper is to describe and explain Intellectual and Developmental Disabilities and Emotional or Behavioral Disorders and how to help such learners. Intellectual and Developmental Disabilities Description & Characteristics Intellectual and developmental disabilities [ID and DD] are defined as those having “significant limitations, both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. This disability originates before age 18” (Hallahan, Kauffman, & Pullen, 2009, p. 178). There are different levels of ID and DD depending on a person’s intellectual quote [IQ]. Mild is an IQ between 50-70, moderate is an IQ between 35-50, severe is an IQ between 20-35, and profound...
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...Abstract The problem of childhood obesity in the United States has grown significantly in recent years. Between 16 and 33 percent of children and adolescents are obese. Obesity is among the easiest medical conditions to recognize, but most difficult to treat. Unhealthy weight gain due to poor diet and lack of exercise is responsible for over 300,000 deaths each year. (cite) In my research paper, I first will examine the differences between overweight and obesity. Next, I will discuss the contributing factors of obese. In discussing this I will break down all the contributing factors and tell how they all play a role in obesity. I will also talk about the trends of obesity and how they affect children and teens. I will also address what organization CDC is working with to fight obesity and how they plan on accomplishing this. Lastly, I will tackle the impact obesity will have on health care especially teen obesity. Obesity rates in the United States are among the highest in the world. Obesity amongst children has more than tripled in the past 30 years. The prevalence of obesity among children aged 6 to 11 years increased from 6.5% in 1980 to 19.6% in 2008. The prevalence of obesity among adolescents aged 12 to 19 years increased from 5.0% to 18.1% in 2008. Overweight and obesity are both labels for ranges of weight that are greater than what is generally considered healthy for a given height. (cite CDC website). The terms also identify ranges of weight that have been...
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...ARTICLE IN PRESS Behaviour Research and Therapy 46 (2008) 836– 844 Contents lists available at ScienceDirect Behaviour Research and Therapy journal homepage: www.elsevier.com/locate/brat Prevalence and correlates of hoarding behavior in a community-based sample Jack F. Samuels a,Ã, O. Joseph Bienvenu a, Marco A. Grados a, Bernadette Cullen a, Mark A. Riddle a, Kung-yee Liang b, William W. Eaton c, Gerald Nestadt a a Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Meyer 109, Baltimore, MD 21287-7228, USA Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21287, USA c Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21287, USA b a r t i c l e in fo Article history: Received 14 February 2008 Received in revised form 7 April 2008 Accepted 8 April 2008 Keywords: Hoarding Prevalence Risk factors Personality disorders Comorbidity abstract Little is known about the prevalence and correlates of hoarding behavior in the community. We estimated the prevalence and evaluated correlates of hoarding in 742 participants in the Hopkins Epidemiology of Personality Disorder Study. The prevalence of hoarding was nearly 4% (5.3%, weighted) and was greater in older than younger age groups, greater in men than women, and inversely related to household income. Hoarding was associated with alcohol dependence;...
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...constantly bombarded by it. We're consuming larger portion sizes and more calories than ever before…” (Moore, CDCTV, 2010). This quote aptly encapsulates the area of my interest – obesity. In my research paper I will discuss some of the causes of obesity, its effects and the health concerns related to obesity and finally offer suggestions as to how obesity can be treated or prevented. Obesity can be defined as “having excess body fat” whereas being overweight is defined as “having excess body weight for a particular height from fat, muscle, bone, water, or a combination of these factors” (Center for Disease Control and Prevention, 2010). Obesity is the result of eating too many calories without sufficient physical exercise to offset the intake. Children today are exposed to many deterrents to eating healthy foods. Factors in the environment home, school, social circles, neighborhood and community all contribute, in different ways, to eating unhealthy, often more affordable, supersized foods. It is difficult for children to make healthy choices and be physically active when exposed to many unhealthy options which are easily available to them. Although overeating and lack of activity are the major factors causing obesity, genetics also plays an important role in obesity. In this paper, I will discuss some of these factors including environmental and socioeconomic conditions that affect obesity. In addition, the consequences of obesity and some actions to combat obesity will be...
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...training of staff, assigning monthly training schedule, approval of community based activities, assist in the management of fiscal operations, setting a staff work schedule and maintaining compliance with licensing regulations, make sure building cleanliness is maintained, communicating important information to staff and clientele. Pathpoint serves a diverse population of persons with disabilities and their families and providing a team of supportive staff to meet their needs is vital to the success of the program and the future of the clients. Factors affecting Teamwork What are the factors involved that prevent an experienced, knowledgeable and valued employee from acting as a “Team Player”? Some of the factors I am looking at in this paper have to do with internal and external factors. Internal factors being derived from ideas of self efficacy. External factors include individual perceptions of management and the organizations support and training of team players. Can methods of communication have a positive or negative affect on an individual performing as a team player? What are the social influences that are either acting as an encouragement or discouragement to team participation? Narrative Description Pathpoint has a very low employee turnover...
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...I. 진단혈액 진단혈액 수련항목 (1) : 혈액학적검사 기본 술기 표준수련기간 : 1주 수련내용 : ◆ 용어정의 : • 혈액학적검사 : 혈액세포와 응고에 관련된 일련의 검사를 의미한다. 혈구의 체내분포, 구조, 기능에 관련된 검사, 골수에 분포하는 전구세포에 관한 검사, 혈구에 영향을 끼칠 수 있는 혈장 인자에 관한 검사 및 유전자 이상에 관련된 검사 등을 포괄적으로 포함한다. • 망상적혈구수 : 적혈구 성숙 단계 중 정염색성 적아구(orthochromatophilic normoblast) 바로 다음 단계의 세포로 핵이 빠져나간 직후부터를 의미한다. 미토콘드리아, 중심소체(centriole), 리보솜 등을 함유하고 있으며 말초혈액에서 24-48시간의 성숙과정을 거쳐서 성숙한 적혈구로 된다 (Ref. Williams 16th p373-374) ◆ 숙지할 필수 지식 : • 혈액학 검사에 사용되는 검체와 항응고제의 작용기전 및 종류 • 모세관 혈액의 채취 방법과 용도, 채취 시 주의점 및 정맥혈과의 차이점 • 적혈구침강계수(ESR) 검사의 원리 ◆ 습득할 필수 술기 : • Neubauer chamber의 사용 • 미량법(micromethod)를 이용한 헤마토크리트의 측정 • 수기법을 이용한 망상적혈구수 검사 ◆ 국내외 장비 및 시약 현황 : 해당없음 ◆ 추천되는 참고자료 : • 대한혈액학회. 혈액학, 2006. • 대한진단검사의학회 편, 진단검사의학 제 3판, 2001. • Henry, JB. Clinical Diagnosis and Management by Laboratory Methods, 24th ed. 2006. 보고서 제출 일자 : 200 년 월 일 평가자 : 지도전문의 인 (일자 : 200 년 월 일) 과장 인 (일자 : 200 년 월 일) 수련위원 인 (일자 : 200 년 월 일) 진단혈액 수련항목 (2) : 자동 혈구계산기 표준수련기간 : 2주 수련내용 : ◆ 용어정의 : • 헤마토크릿(Hct) : 혈액 전체 부피에 대한 적혈구 부피의 비율, 단위는 % 또는 L/L • 평균적혈구용적(MCV) : 적혈구의 평균 용적, 단위는 fL, • MCV = Hct (L/L) X 1,000/RBC count (X1012/L) • 평균적혈구혈색소(MCH) : 적혈구 한 개당 혈색소 양, 단위는 pg, • MCH = hemoglobin (g/L)/RBC count (X1012/L) • 평균적혈구혈색소농도(MCHC) : 적혈구 한 개당 평균 혈색소 농도, • 단위는 g/L, MCHC = hemoglobin (g/L)/Hct (L/L) • 적혈구분포지수(RDW)...
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