...X Resources: http://www.labcorp.com http://www.geneticdiseasefoundation.org http://www.fragilex.org http://www.nfxf.org/ Taylor Smallshaw Although there is no cure, special education, speech therapy, occupational and behavioral therapy could offer help to someone diagnosed with Fragile X. Additionally, there are medical treatments for aggression, anxiety, hyperactivity, and poor attention, which are common characteristics of Fragile X. Syndrome. There is no cure for Fragile X Syndrome. Treatment Fragile X Syndrome is a sex-linked inheritance of mental retardation. Although it can be found in all ethnic groups, it is predominantly found in males. There are physical and behavioral symptoms of Fragile X. There is no cure for this disorder, however there are many treatments in which a patient suffering from Fragile X can participate. Key Facts Praesent congue sapien sit amet justo. Fragile X Syndrome = Frequency of Fragile X Fragile X Syndrome can occur in all types of ethnic groups. However, it differs in the prominence in different genders. Because it is a sex-linked dominant gene, more males will be affected by this disorder. An estimated 1 in 4000 males are affected and 1 in 6000 females. One in 100/250 women are carriers for the gene. These female carriers often suffer from infertility and early menopause. Fragile X Syndrome is one of the most common forms of inherited mental retardation. Fragile X Syndrome is a sex-linked dominant...
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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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...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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...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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...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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...Autism Autism or PPD (pervasive developmental disorder) is defined by the Columbia encyclopedia as a rare neurodevelopmental disorder characterized by the inability to relate to and perceive the environment in a realistic manner. The onset of the disorder is in infancy or early childhood, generally before the age of thirty months, and males are affected four times as often as females. Symptoms include impairment in social interaction, fixation on inanimate objects, inability to communicate normally, and resistance to changes in daily routine (Anthes, 1997). Characteristics of Autism Diagnosing Autism is based on four characteristics: difficulty with language, abnormal responses to sensory stimuli, resistance to change and difficulty with social interaction. ?Other characteristics of autism may include: making the same repetitive motion for hours, repeating a sound or phrase, inability to hold a conversation, practicing unusual play patterns, and extreme sensitivity to sound and touch? (Riccio, 1999). Autistics can exhibit any combination of these characteristics in any degree. That is why autism is referred to as a ?spectrum? disorder, because at one end of the disorder a child may be inflicted with some symptoms, while at the opposite end a child may be inflicted with multiple symptoms with many areas in between. Children who display few symptoms may be characterized as ?mildly autistic?. Early signs of Autism may appear in the first months of life. Autistic infants...
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...Kientz and Dunn (1997) use SP scores to determine if they are able to discriminate between children with and without autism. A multivariate analysis showed higher rates of sensory processing dysfunction in autistic children in all of the categories on the SP. The scores reflected deficits in social and behavior characteristics. Ermer and Dunn (1998) conducted a follow up study to specify which items on the SP discriminated the best between children with ASD, children with ADHD, and children without disabilities. It was found that 4 of the 9 factors were best used to discriminate children with ASD. These include low occurrence of behaviors in the Sensory Seeking Factor, and high occurrence of behaviors in Oral Sensitivity, Inattention, and Fine Motor Factors. Another study conducted assessed parent reports of reactions to sensory of 102 children. The children consisted of four different groups: autism, Fragile X syndrome, other cognitive disabilities, or typically functioning. On the Short Sensory Profile (SSP) the results indicated that the Fragile X syndrome and autism groups showed significant sensory responses, while the other two groups did not. The researchers also found that the abnormal sensory reactivity had a significant relationship with overall adaptive behavior (Rogers, Hepburn, & Wehner,...
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...there any patterns of age–related changes evident in during childhood. (Reiss et al., 1996, p. 1764) This is one of a few studies that utilizes volumetric imaging to “describe cerebral development and morphology” in normal, non-clinically referred children. (Reiss et al., 1996) Process 100 children between the ages of five and seventeen were given MRI scans of their brains. Of these 100 images, only 85 were used in the final data analysis due to 15 not containing the entire cerebrum in the end result. There were sixty-four females and twenty-one males. The mean ages were 10.6 and 10.7 respectively. The difference between the numbers of girls to boys was due to researchers “recruitment of gender-matched normal controls for ongoing studies of female children with specific genetic conditions such as fragile X syndrome and Turner Syndrome. (Reiss et al., 1996) For these subjects with such genetic problems, control subjects were chosen from a pool of their “normal” siblings who had been tested and shown to be negative for these syndromes. All were shown to exhibit adequate success in the classroom, and had normal IQ’s. A majority of the subjects were found through...
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...……………………………………INFLAMMATORY MYOPATHY 6. ……………………………………TOXIC MYOPATHY 7. ……………………………………SIGNS AND SYMPTOMS 8. ……………………………..……..PREVENTION 9. ……………………………..……..TREATMENT 10. …………………………..………..BIBLIOGRAPHY Abstract In this assignment, the disease of Myopathy is taken into examination. Myopathy refers to any disease that affects muscle tissue. Myopathy can be the result of either inherited or acquired causes. The medical services primarily consist of physical therapy, different kinds of drug therapy, bracing for support, therapeutic massages, and surgery. With supported facts and data, one can understand various topics of this disease and apply what they’ve learned in their everyday life. Through careful and proper research, an analysis of this muscular disease had been made. In this examination of Myopathy, the audience is to learn about the many types of Myopathy, the causes, and preventative measure, as well as statistical data to support the findings. Knowing the symptoms, physiological details, and treatments of this disease will not only help people gain a better understanding of what Myopathy really is, but it will allow them to want to promote a more health conscious lifestyle and want to do whatever it takes to prevent and be more precautious of this painful disease. Introduction Myopathy develops as the result of either inherited (congenital or genetic) disorders or acquired conditions of the muscles. There are four different types of myopathy. They are Inherited...
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...Hyperammonemia Ammonia is a normal constituent of all body fluids. At physiologic pH, it exists mainly as ammonium ion. Reference serum levels are less than 35 µmol/L. Excess ammonia is excreted as urea, which is synthesized in the liver through the urea cycle. Sources of ammonia include bacterial hydrolysis of urea and other nitrogenous compounds in the intestine, the purine-nucleotide cycle and amino acid transamination in skeletal muscle, and other metabolic processes in the kidneys and liver. Increased entry of ammonia to the brain is a primary cause of neurological disorders associated with hyperammonemia, such as congenital deficiencies of urea cycle enzymes, hepatic encephalopathies, Reye syndrome, several other metabolic disorders, and some toxic encephalopathies. Ammonia is a productof the metabolismof proteinsand other compounds,and itis required for the synthesis of essential cellular compounds. However,a 5- to 10-fold increase in ammonia in the blood induces toxic effects in mostanimal species, withalterations in the functionof the central nervous system. Bothacuteand chronic hyperammonemia result inalterationsof the neurotransmitter system. Based onanimal study findings, the mechanismofammonia neurotoxicityat the molecular level has been proposed.Acuteammonia intoxication inananimal model leads to increased extracellular concentrationof glutamate in the brainand results inactivationof the N-methyl D-aspartate (NMDA) receptor.Activationof this receptor mediatesATP...
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...is also research indicating that the cause is neurological. The gap between genetics and neurology concerning autism is where the connection needs to be made in order to understand the disability wholly. Autism is a complex developmental disability as the result of a neurological disorder that affects the functioning of the brain. The onset of the disability is in infancy or early childhood with males being affected four times as often as females. Autism shows no racial, ethnic or social boundaries. The term Autism Spectrum Disorder (ASD) is used because it is covering a group of disabilities with similar features. There are three categories of autism spectrum disorder known as Autistic Disorder, Asperger Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified. Autism affects the normal development of the brain in specific areas such as those responsible for social interaction and communication. Those affected may show severe symptoms while others only suffer mild symptoms. Many children who suffer from autism spectrum disorder never babble or coo and can...
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...one’s child can shatter a parent. There is a substantial amount of confusion and controversy found in all areas of the disorder, from diagnosis to treatment. Most parents who seek treatment for a child labeled with autism face many dead-ends and obstacles concerning what are best for their child. . Having a child who is autistic will be a struggle throughout both of your lives. Autism Spectrum Disorder (ADS) adversely affects a child’s communication, socialization, and behavior. It has symptoms ranging from mild cognitive, social, and behavioral deficits to more severe symptoms where children may suffer from intellectual disabilities and be nonverbal. The five subtypes of ASD are: Autistic Disorder, Asperger’s Syndrome, Childhood Disintegrative Disorder (CDD), Rett Syndrome, and Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Because each are so broad, I narrowed down my research to Autism Disorder, a sever disorder that affects the development and function of the brain. It causes problems in such areas as social contact, emotional response, intelligence, language and speech impediments, along with ritualistic or compulsive behaviors, as well as different responses to the environment that an autistic individual may have that differ with individuals not having autism would exhibit. I will be talking generally about the history and description of autism, possible causes, early detection, risk factors, and treatment for autism. ...
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...PGD goes against the science of genetics, basically choosing disorders that should not be inherited, making PGD a socio scientific issue. These people may not know they are carriers of a disorder until they have an affected child, there is a 50%-50% chance of the embryo inheriting the disorder if the parents are affected and carrying the trait for the disorder. The PGD process begins occurring with the ovarian stimulation and IVF. The second part of this procedure is the blastomere biopsy on day 3. Leading to the genetic analysis of the embryo for an inherited disorder. This is done by genetic screening and genetic testing the embryo/baby. “Genetic testing usually involves testing an individual for the genetic change (mutation) underlying a condition or abnormality that may be suggested by other evidence ”. “Genetic screening may involve testing members of a population (or sub-population) for a defect or condition, usually where there is no prior evidence of its presence in individuals or their relatives, and as part of a public health service. Alternatively, the offer of screening may be limited to a sub-population that is at particular risk of a genetic condition ”. The third step in completing the PGD procedure is the transfer of the unaffected embryo into back...
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...It is the most abundant protein in vertebrate, it is a part of the different types of collagen that help to strengthen and support connective tissues in the body, including bones, tendons, skin, cartilage, etc. It is secreted and produced mostly by osteoblasts and fibroblasts. A shortage of type 1 collagen or mutations in either the alpha 1 or 2 chains constituents causes disease. Missing or low presence of α-1 chain produces a reduced amount of type 1 collagen, the shortage of this protein causes the bone to be fragile which leads to Osteogenesis imperfecta type 1 disease. Also, the mutation in the alpha chains disrupts the normal combination of type 1 collagen fibrils and alters the assembly of different collagen molecules forming a ribbon-like fibrils that lacks the tensile strength to keep the skin from become too stretchy, as a result a disease called Ehlers-Danlos syndrome. Low alpha chain amounts, abnormal triple helix shape leads to abnormal type 1 collagen which disrupts the assembling of other collagens which results to...
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