most common type of deaf-blindness disease in the world is Usher Syndrome. Usher Syndrome is a clinically and genetically heterogeneous disease. It is inherited in an autosomal recessive inheritance pattern. Worldwide‚ the chance of a baby being born with Ushers Syndrome is approximately 1 in every 25‚000 babies. To date‚ there are roughly 50‚000 people with Ushers Syndrome living in the United States. As stated above‚ Ushers Syndrome is an inherited disease characterized by hearing impairment and
Premium Protein Retina Retinitis pigmentosa
Mutation may be defined as any change occurred in the DNA sequence‚ which changes the gene function regardless of the morphological or physiological results. It is permanent‚ hereditary and ruled by Mendel’s laws. Such chemical changes are constant and occur during the replication stage and they can be quickly fixed; however‚ a mutation may occur if not repaired. They can affect autosomal genes (dominant or recessive) or be linked to sex chromosomes. Mutation can result in several different types
Premium Chromosome DNA Aneuploidy
the state of the profession in the past when practitioners were stunned by illnesses that they could not diagnose. In his book‚ Look me in the eyes‚ John Elder Robinson provides insights into the struggles endured by those ailing from Asperger’s syndrome. He details his experiences with this condition while giving focus to his inability to properly interact with others and respond properly to various situations (Robison‚ 2008). The book also highlights the failure of the mental health profession
Premium Psychology Psychiatry Mental health
LAB REPORT MEDICAL IMAGING (BMB 44303/ BMB 44304) SEMESTER 1’13 LABORATORY INVESTIGATE THE ULTRASOUND IMAGING NAME: MOHD AFIQ AIMAN BIN MAT ARIFFIN ID NO: 51216111078 GROUP: LO1 TITLE: Ultrasound images A) Objectives: 1. To make the students get familiar with ultrasound machine. 2. To identify image produced by ultrasound. 3. To measure the diameter/ dimension of image subject. B) Procedures: Please simplify procedures of using ultrasound machine
Premium Mitral valve prolapse Heart
Asperger ’s syndrome‚ is an autism spectrum disorder that affects language and behavioral development in children. Several years ago Pervasive Developmental Disorder (PDD) is a group of conditions that involve delays in the development of many basic skills that vary in severity‚ communication delay and repetitive behaviors such as: Autistic Disorder‚ Asperger Disorder‚ Rett’s Disorder‚ Childhood Disintegrative Disorder and Pervasive Developmental Disorder-not otherwise Specified. Now more commonly
Premium Autism Pervasive developmental disorder Asperger syndrome
Tourette syndrome. Central Idea * To inform my audience what Tourette syndrome is‚ what causes Tourette syndrome‚ and how to treat Tourette syndrome. Introduction I. Over 200‚000 Americans have Tourette syndrome. A. TS patients are often undiagnosed B. 15% of TS patients experience extreme effects C. Men are three times more likely to have TS than women II. Tourette Syndrome A. What it is B. What causes it C. How to treat it Body I. What Tourette Syndrome is
Premium
with Asperger’s syndrome‚ and tells the story of how they developed a relationship and eventually married. Nearly the entire cast is composed of characters with disabilities who have been joined together as a support group by the main character‚ Donald. Donald has Asperger’s syndrome and forms the group so he can have friends. Isabelle‚ who also has Asperger’s Syndrome‚ joins Donald’s group and the two have a lot in common. Most of their similarities come from Asperger’s Syndrome - they never know
Premium Asperger syndrome Protagonist Disability
Marfan syndrome Abraham Lincoln History: The syndrome is inherited as a dominant trait‚ carried by the gene FBN1‚ which encodes the connective protein fibrillin-1. People have a pair ofFBN1 genes. Because it is dominant‚ people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome. Marfan syndrome has a range of expressions‚ from mild to severe. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs‚ the eyes‚
Premium Asperger syndrome
.... 2 Case Study ................................................................................................... 3 What is Asperger Syndrom? ........................................................................ 4 How Asperger Syndrome can affect a Michael’s development * Erikson Theory...................................................................................... 5 * Piaget Theory –cognitive development ................................................ 5 * Maslow
Premium Asperger syndrome Nonverbal communication Autism
Section B: Specific Additional Requirements • Describe 3 examples of syndromes/conditions of your choice. • Describe 2 strategies for each example described above. These strategies could be medical‚ nutritional‚ educational‚ social or emotional which are meant to meet the children’s additional needs. Down Syndrome Down Syndrome‚ also referred to as Trisomy 21‚ is a condition which causes delays in the development of children‚ both mentally and physically‚ due to extra genetic material
Premium Down syndrome Autism Autism spectrum