Congenital Disability- Fragile X Syndrome There are thousands of disabilities in our world today and people are either born with them or develop them as they grow. A congenital illness or disability is when a person is born with the disability or illness unlike an acquired disability that can occur and develop over time. Fragile X syndrome (FXS) is a congenital disability that happens to be the most common inherited cause of intellectual disabilities. This disease causes developmental problems along
Emily Zerona Mrs. Driscoll Honors Biology 14 May 2014 Fragile X Syndrome Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety
dyslexia, dyspraxia and the autistic spectrum ." (2004): n. pag. Web. 1 Jun 2010. Wattendorf, Daniel. "Diagnosis and Management of Fragile X Syndrome." Am Fam Physician (2005): 111-113. Web. 30 May 2010. . Wijsman, Ellen. "Segregation Analysis of Phenotypic Components of Learning." Am. J. Hum. Genet. 67. (2000): 631-646. Print. World Health Organization "Fragile X syndrome Information." (2210): Web. 28 May 2010. .
Autism is a condition, or "disorder" that affects many people. Autism strikes at will, when and where it wants. Unlike Downs Syndrome or other birth "defects," Autism leave no marks on those that it strikes. In fact, Autism takes pride in the ability to infiltrate a child's life, while leaving him or her strikingly handsome. Many people may not even know that Autism is there. They blame the child for what it cause him or her to do. This is Autism and it do as it please. Autism spectrum disorder
Intellectual disability in lay man terms would be the disability to perform intelligent functioning of the human brain. The performance of everyday social and practical skills requires intellectual functioning and adaptive behaviour which are in-built abilities in most normal human beings. The ones who possess intellectual disability are often limited by their intellectual functioning and adaptive behaviour skills. This disability is generally spotted in individuals before they reach the age of 18
severe (1).” A diagnosis of autism can result from any combination of its defined behaviors. In addition to this, there is a host of related disorders, in which some but not all symptoms of autism are present. These include Asperger Syndrome, Fragile X Syndrome, Rett Syndrome and Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) (4)(2). Because of its characteristic breadth, autism is a good example of the implications of being seen as an individual within a group possessing a defined
in which our genes shape our brains. My first paper dealt with the nature-nurture debate and its relation to the brain-behavior problem raised in class. Then, in the second paper, I moved on to a narrower issue in neurogenetics; I wrote about Fragile X Syndrome and the ways in which a specific genetic mutation can drastically change behavioral output. I would now like to enlarge the scope of this outlook on genes and the brain to encompass the topic of the evolution of the human brain. Throughout the
retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in
Children and Environment (2011). A neurodevelopmental disorder is defined as a disorder that affects the nervous system. These conditions include Attention Deficit Hyperactivity Disorder (ADHD), autism, cerebral palsy, Down syndrome, dyslexia, dyscalculia, and Fragile X syndrome. Such disorders take more than a physical toll on the diagnosed individual. Neurodevelopmental disorders take a hefty financial, emotional, and mental toll on family members affected throughout the diagnosed individual’s development
other words, clinical drug trials are done to figure out the effectiveness of the drug. Clinical drug trials are ethical because the scientists are trying to find hope and cures to diseases that may be taking over a person’s life. Chase, who has fragile X syndrome, showed signs that the drug he took in a clinical drug trial, minocycline, was working when he began to develop the abilities to understand things and respond to others. Also, clinical drug trials started back since the start of civilization
present as soon as the child is one year old. There are many genetic mutations that account for many diseases, including Autism. One of the most common genetic causes for Autism is “Fragile X Syndrome” (Causes). Studies have shown that 30% of people with Fragile X Syndrome have Autism as well (Autism and Fragile X Syndrome). Tuberous sclerosis is another disease often associated with the genetics of Autism. About 40% of people with Tuberous sclerosis develop Autism (TSC and Autism Spectrum Disorders)
and their families lives by developing small molecules that modulate the on and of control of mechanism that regulate genes. The two most common disease that their program is focused on are, Facioscapulohumeral muscular dystrophy (FSHD), and Fragile X syndrome (FXS). FSHD for example, is a progressive myopathic disease that affects humans of all ages caused by disrupted genetic and epigenetic regulation of a macrosatellite repeat (Himeda, Jones, & Jones, 2015). It is slowly progressive muscle disorder
experience theory wrong, since the infants have no experience of learning how to be selfless. Finally, scientists working in twin studies also fo... ... middle of paper ... ...mpairments. Nearly all people with Down syndrome have some kind of serious impairment. Down syndrome is caused by an extra chromosome 21. It also causes physical problems—such as a deformed face, heart effects, and hearing problems, and intellectual impairment. While the severity of the deficiency various from person
Autism is a general term for a group of complex disorders of brain development. The Autism spectrum is vast and varies in degree of severity from person to person. The challenges that come with Autism Disorder include difficulty in social interactions, verbal and nonverbal communication and repetitive behaviors. Autism has been a diagnosable disorder since 1951. Treatment options have changed since the first diagnosis. Available treatment today has advanced over the sixty-three year span and has
Rett Syndrome is a neurological and developmental disorder that affects the nervous system. It occurs almost exclusively in females, but in rare cases it affects males. It is actually the leading cause of severe impairment, mental retardation and developmental regression in girls. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begins in early life and influences multiple areas of development. It is a developmental disorder
WHAT IS AIDS? AIDS stand for Acquired Immune Deficiency Syndrome ACQUIRED, how? The blood, vaginal fluid, semen, and breast milk of people with the AIDS virus contains enough of the virus to transmit it to another person. Most people who have acquired the AIDS virus have done so by having sex with an infected person, sharing a needle with one, or being born to a mother who is infected. IMMUNE DEFICIENCY? Catching the AIDS virus can be lethal because it affects the immune system, which is
in social interaction, verbal and nonverbal communication and repetitive behaviors.” (Autism Speaks Inc., 2014) “Children with characteristics of an ASD may have co-occurring conditions, including Fragile X syndrome (which cause mental retardation), tuberous sclerosis, epileptic seizures, Tourette syndrome, learning disabilities, and attention deficit disorder. About 20 to 30 percent of children with an ASD develop epilepsy by the time they reach adulthood.” (National Institute of Neurological Disorders
that the society should first trace the origin of one’s condition. Some conditions originate from the genetic makeup of a person. Conditions like the Downs’ syndrome, Fragile-X syndrome, and Rett syndrome are scientifically said to have a linkage with the genetic compositions of a person. Other individuals are found to have specific syndromes associated with intellectual disability that has an intelligence quotient of over 70. This means that these people are not
Ehlers-Danlos Syndrome (EDS): The name for this disorder comes from two physicians; Edvard Ehlers whom was a Danish dermatologist and Henri-Alexandre Danlos a physician from France who specialized in chemistry of skin disorders. Ehlers-Danlos syndrome is a disorder of the connective tissues that is inherited by a child from their parent. The fragility of the skin and looseness of the joint can often be a result of abnormalities in the genes that produce collagen. It is categorized into numerous
their later adult life and also to reduce the side effects that come along with autism (Hamilton). One who is diagnosed with autism may have a vastly different case than someone else who is diagnosed. Each case of the disorder is unique. Asperger Syndrome is sometimes referred to as a type of autism bu... ... middle of paper ... ...eceptors on brain cells known as mGluR5 receptors” (Hamilton). This drug has been extremely successful in mice and is now being tried with humans. Results are being