...Fragile X Syndrome (FXS) is caused by the mutation of the Fragile X Mental Retardation Gene. Although there has been some debate over the prevalence rate, the majority of researchers state that FXS is prevalent in 1 out of 4,000 individuals. FXS can lead to a range of social and cognitive impairments, and it is one of the most frequent genetic causes of intellectual disabilities (Bagni, Tassone, Neri, & Hagerman, 2012). Individuals with FXS tend to exhibit hyperactive traits, attention deficits, language development difficulties, communication problems, visual-spatial processing deficits, and social anxiety (Reiss & Hall, 2007). Behavioral symptoms may include aggression, tantrums, self-injury, and repetitive behaviors (Newman, Leader, Chen, & Mannion, 2015)....
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...What is fragile X syndrome? Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty. How common is fragile X syndrome? Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. What genes are related to fragile X syndrome? Mutations...
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...Fragile X syndrome Structure 1. What is Fragile X syndrome 2. What causes fragile X syndrome 3. Features 4. How to cure fragile X syndrome Composition Fragile X syndrome, also known as Martin-Bell syndrome, or Escalante's syndrome, is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe. Fragile X syndrome is caused by a defect in the FMR1 gene located on the X chromosome. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome. Women have two X chromosomes, so women have a healthy X to detect the defective one, but men only have one X chromosome and one Y chromosome, so fragile X syndrome is therefore much more pronounced in boys, girls are more likely to be carriers. People with fragile X syndrome may show a combination of the following signs as children and throughout life like developmental delays, such as taking longer than normal to learn to sit, walk, or talk compared with other children of the same age, stuttering, intellectual and learning disabilities, such as having trouble learning new skills or information, anxiety, autism, impulsiveness, attention problems, social problems, such as not making eye contact with other people, disliking being touched, and trouble understanding body language, hyperactivity...
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...The genetic disorder I will be researching and writing on is the Fragile-X Syndrome. Fragile-X Syndrome is one of the most commonly known and inherited types of neonatal genetic disorders and mental retardations. Among the name fragile-x syndrome, it is also known by a few other names. For example, a couple of the other known names are: FXS, FRAXA, and Martin-Bell Syndrome. FXS greatly impacts areas of the brain. The disease does not directly affect the brain as a whole, but renders the body incapable of producing enough of a specific protein vital for the development of the brain. Fragile-X syndrome is existent when there is a mutation in the FMR1 gene. The FMR1 gene is essential for cognitive development as well as female reproductive function. The syndrome is caused...
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...Fragile X Syndrome is a genetic condition involving a change in the part of the X chromosome. This causes developmental problems like learning disabilities and cognitive struggles Fragile X Syndrome is the most inherited form of severe neurodevelopmental. This is caused by expansion of CGG repeating itself on the FMR1 gene. Therefore, this leads to a disappearing of a certain protein. This defect causes further symptoms and abnormalities in someone future that lies ahead. Mutations change in the FMR1 gene causing fragile x disorder. This gene carries instructions on how to make a protein called Fragile X Mental Retardation 1 protein. Sections of DNA do not repeat themselves. This occurs when FMR1 on the long arm of the x chromosome, shuts down and fails to create a protein called FMRP. There are many symptoms that come along with Fragile X Syndrome being physical, mental, and emotional. For both male and female, signs start showing more around the time they hit puberty. They also differ between genders and are more severe for males. Some physical features include a long and narrow face, large ears, a prominent jaw and forehead, flexible fingers, and flat feet. Other symptoms include intellectual disability, delayed speech and...
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...205 Fragile X Syndrome The most common form of inherited mental retardation today is none other than Fragile X Syndrome. Fragile X is a chromosomal disorder caused by a mutation of the FMR1 on the X chromosome that some individuals, mostly males, are born with rather than develop later on and it is seen all around the world. A couple of major contributors to the Fragile X syndrome discovery are J. Purdon Martin and Julia Bell. In 1943, they studied a family in which numerous males had mental retardation. By inferring that it was genetic, they were able to link this mental retardation to an X-linked inheritance. In 1969 Herbert Lubs first discovered Fragile X syndrome under a microscope. He revealed that one of the arms on the X chromosome appeared broken hence the name Fragile X. The FMR1 gene provides guidelines that make a protein named fragile X mental retardation 1 (FMRP). The symptoms seen are caused because the gene cannot produce enough FMR1 protein that is needed in cells of the body and especially in the brain for normal development. Fragile X is somewhat preventable due to prenatal genetic counseling now that the disease is more understood. Meaning, a woman can get tested to see if she is a carrier of Fragile X. From there she can decide if she wants to have children and risk passing down this disease to them. Individuals affected by Fragile X syndrome have difficulty with sequential processing, learning disabilities, and many other things. Fragile X Syndrome is a...
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...tested patient X with PCR analysis and found there was a mutation, proving my theory and this boy's diagnosis of Fragile X syndrome. Symptoms: Male A moderate mental retardation. They have an abnormal facial appearance, characterized by a large head size, a long face, prominent forehead and chin and protruding ears. Loose joints (joint laxity), and large testicles (after puberty). Behavioral problems such as hyperactivity, hand...
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...brain. This disease can affect the individuals functional abilities. Most people with this disease start getting symptoms in their 30s or 40s. When this disease affects people before the age 30 it is called “ juvenile Huntington’s disease”. The causes of Huntington’s is due to a inherited defect in a single gene. Cystic Fibrosis Cystic Fibrosis is a genetic disease that causes lung infections and makes it difficult for the individual to breathe. This disease causes sticky build up of mucus in lungs, pancreas, and other organs. Cystic Fibrosis is a genetic disease, the individuals have 2 copies of defective CF gene Down's Syndrome...
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...consist of special courses like creative writing, painting, and even dancing. The important consideration however, is to ascertain the particular inclination of the child. Since the knowledge about multiple intelligencers as espoused by Gardner, has come into practical application, more schools have begun to offer programs that are designed to harness the special talents of intellectually gifted. CHILDERNE WITH INTELLECTUAL DEFICITS Down syndrome is characterized by a district physical appearance, and physical and mental retardation. The most common physical characteristics are almond shaped eyes, folded eyelids, and short stature. Children with Down Syndrome are susceptible to respiratorial infections, heart disorders, leukemia, and pneumonia. Mental retardation can be moderate to severe. They are also at risk to develop Alzheimer’s disease later in life however, with the advancement of the treatment for physical disorders afflicting these children, their life span has greatly increase some are able to reach age 60. Infants with Down Syndrome may develop fairly...
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...Genetically Transmitted Disorders Introduction Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders (Pitman, 2002). What is Heredity? Why do children look like their parents? Why do brothers and sisters resemble each other? This is because we “inherent” traits from our parents. The passing of traits from parents to child is the basis of heredity. Traits are physical characteristics. Eye color, nose shape, and many other physical features are some of the traits that are inherited from parents (Kristine & Stewart, 2007). What is genetics? Genetics is the science that studies the mechanics of heredity, or the means by which traits are passed from parents to offspring. Through genetics a number of specific disorders have been identified as being genetically caused (ibid, 2007). Dominant Inheritance ...
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...Final Paper: Autism in Children: Conceptualizing the Complexities Genesis Cuesta The Chicago School of Professional Psychology December 13, 2012 Autism is a disorder that is becoming more and more common in our everyday society, despite a lack of everyday knowledge on this multifaceted disorder. Children are diagnosed with a range of autism disorders, fearing the consequences that come with it. In a short amount of time, the fields of medicine and psychology have advanced tremendously in their knowledge of this disorder and how it affects the development of children. In this paper, we will explore aspects of autism, from the different causes offered by researchers, common symptoms, and the latest treatments to combat this complex disorder. Overview Autism is not one disorder, but rather a group of developmental brain disorders, collectively referred to as autism spectrum disorder (ASD). According to the National Institute of Health (NIH) (2011) the term “spectrum” refers to the wide range of symptoms, skills, and levels of impairment, or disability that children with ASD can have. As indicated by Johnson and Myers, Leo Kanner, a psychiatrist at Johns Hopkins University first described autism in a small group of children in 1943 (as cited in Kanner, 1943). Kanner documented that they showed extreme aloofness and total indifference to other people. In 1944, Hans Asperger, an Austrian pediatrician published an...
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...Biological & Environmental Foundations Chapter 2 Developmental Psychology Genotype vs. Phenotype Genotypes: - Genetic makeup of the individual Phenotypes: - Directly observable characteristics Genetic Foundations Some definitions… Genes: Basic unit of genetic information Chromosomes: rod-like portions of DNA which store/transmit genetic information 46 chromosomes in each cell (23 pairs) DNA: deoxyribonucleic acid; chemical substance that makes up genes, chromosomes Mitosis DNA duplicates itself through mitosis Permits a one-celled fertilized ovum to develop into a human being Sex Cells Gametes: sex cells (sperm, ovum); each have 23 chromosomes; combine to create a zygote Zygote: sperm and ovum unite (conception); have 46 chromosomes Meiosis: Cell division process through which gametes are formed; Halves number of chromosomes in body cells (46) Autosomes: 22 matching pairs of chromosomes that are NOT sex chromosomes Sex Chromosomes: The 23rd pair of chromosomes (XX=female; XY=male) Twins Fraternal (dizygotic) twins Most common multiple birth Caused by release/fertilization of 2 ova As genetically similar as any two siblings Older maternal age, fertility drugs, in vitro all contribute to more fraternal twins Identical (monozygotic) twins Zygote that has begun to duplicate separates into 2 clusters of cells Same genetic makeup 1 out of every...
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...1 Potential Etiologies of Autism Autism spectrum disorder, also called autism, is a severe physical disorder of the brain, characterized by impaired cognition, limited language, repetitive patterns of behavior, difficulty with social interactions, and a lack of responsiveness to other people (Schreibman). Other conditions within the autism spectrum include Asperger syndrome, Child Disintegrative Disorder (CDD), Pervasive Developmental Disorder, Not Otherwise Specified (PDD-NOS), and Rett’s Disorder (58-63). Scientists consider these disorders to be similar because they share common characteristics (58). Asperger syndrome occurs when children have difficulty with social interactions, but do not exhibit delays in language. CDD develops within two years and autism is evident within the first year of life (59). PDD-NOS occurs when children have difficulty with social interactions and either communication problems or restricted interest (63). Rett’s Disorder is diagnosed definitively in females and autism is diagnosed primarily in males (58). The term autism was first used in 1943 by child psychiatrist Leo Kanner, who wrote a paper “Autistic Disturbances of Affective Contact” (Koegel 2). In his paper, Kanner described his observation of eleven children between the ages of two and eight who displayed a tendency to want to be alone and lacked the ability to interact with others. The children also displayed a delay in speech, a lack of imaginative play, unusual interest, and verbal...
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...leaves not much time for learning because the toileting, hygiene, and eating do take a big part of the day. The teachers usually have a full time assistant in the classroom or two depending on the need in the classroom; this helps the Special Education teacher complete tasks in the classroom. The teacher can work on a student one on one and the assistant can help with the other students needs. (Severe Intellectual Disabilities and Multiple Diablites, 2007) Some of the intellectual disabilities that teachers may encounter I have found are ADHD (Attention Deficit hyperactivity Disorder), Angel man syndrome, Aspersers Syndrome, Autism, Cri Du Char, Down Syndrome, Dysphasia, Dyspraxia, Epilepsy, Fragile X, Klinefelter Syndrome, Pervasive Developmental Disorder, Prader-willi Syndrome, Rett Syndrome, Trismoy, Soto’s Syndrome, Tourette Syndrome, Tuberous Sclerosis, and Williams Syndrome. (Activ, 2001) References Activ (2001) Types of Intellectual Disabilities. Retrieved on July 13, 2001 from http://www.activ.asn.au/3/3017/8/types_of_intellectual_disability.pm Severe Intellectual Disabilities and Multiple Disabilities. Pat Mimms. Retrieved from Special Education for Today’s Teachers: An Introduction, by Michael S. Rosenberg, D avid L. Westling, and James M cLeskey....
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...it was a horrific scream, like I was really hurting her. Since then I have been over to my brother’s house several times to see Melody but I am yet to take her on my own again. After observing Melody on those few occasions I decided to do some research on autism and other associated disorders. What is Autism? Autism is a disorder that affects brain development that impairs social interaction and communication (Autism-Help.Org, 2000-2010). Autism is not fully understood by doctors and scientist but is often referred to as one of the disorders listed under the autism spectrum disorders (ASD). Autism spectrum disorders have three main groups, and two rare, severe autistic like conditions; Asperger's syndrome, pervasive developmental disorder, autistic disorder, Rett's syndrome, and childhood disintegrative disorder (Web MD, 2010). There is no one type of autism, every individual case is unique. The type of behaviors and severity differ in every individual case. Autism affects the way that children behave,...
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