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 with cognitive impairments and physical issues, which are similar to autism-like behaviors. Depending on the severity of this disability a person can live a happy, fulfilling life, full of support and love. This disability will be examined and explained more in depth when looking at the individuals quality of life, the impact on family members, treatment options, possible stigmas and how service providers help/hinder rehabilitation. The children that are affected by this disability have delayed development of speech and language, along with serious intellectual disability. With FXS come various amounts of other issues for children and adults, which include, difficulty-paying attention, which can lead to attention deficit disorder (ADD), showing features of the autism spectrum and possibly having reoccurring seizures (Bagni, Tassone, Neri & Hagerman 2012). FXS is caused by mutations in the FMR1 gene, which is located on the X chromosome, therefore causing a malfunction in expressing the fragile X mental retardation protein that is vital in normal neural development (Bagni et al., 2012). “FXS is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders” (Bagni et al. 2012... ... middle of paper ... ...olding jobs and obtaining an education. As long as there is a great support system and an abundance of helpful resources, then no matter how severe a patient’s symptoms may be they too can live a quality life. As for the family, the more education they have about this disability the better they can parent their child with FXS and maintain a healthy family. Due to the fact that this is a congenital disability and is the most common inherited cause of intellectual disabilities, it is crucial that education awareness be spread to everyone. As mentioned, the more education and knowledge about all disabilities the easier stigma can be eliminated. Screenings and treatments are being researched everyday to try and find a cure for this disability, but until then it is important to treat everyone with respect regardless of their physical features or intellectual disability.
Due to this disease the body is slowly broken down by affecting the central nervous system of a person’s body. The children depicted in the essay are probably an example how fellow human beings should be around a disabled person. They just view the disabled person as another human being and respect them the same way. The children are proud to associate themselves with Mairs and do not shy away from introducing her to the general public. This is what a disabled person requires: that all those around him or her should respect them for what they are and give them unconditional regard
As the treat for this disease improves the people effected by it will have a better chance to live a normal life with out the fear of being seen as a out cast.
ASD individuals may find it hard to communicate and socialize with others around them. However, because each child is unique, they have their own unique abilities and ways of responding to new experiences. Other issues children with ASD have include; anxiety, sleeping problems, and learning disabilities. Those who are diagnosed with ASD or any other disability are usually judged and bullied. In the documentary Violet’s mother says she is afraid of her child being labeled and underestimated because she is diagnosed with autism. A child’s disability can also affect their family members. Family members may have a difficult time understanding and getting to know the autistic child in order to provide for them. They struggle to find interventions such as treatment and therapy for them, the right medical care, and trying learn to cope with all this. At times parents and caregivers can also feel stressed or irritated knowing they have to fulfill all of the child’s needs. Siblings on the other hand, may find it unfair that the autistic child gets the most attention and
...s course because it helps to increase awareness and sensitivity to those with disorders and diseases. The book helps the reader better understand the challenges such individuals have to overcome. In addition, Fox’s humorous nature presents challenges brought on by his disease at a unique angle so the reader can see both the demanding affects it brings and the many opportunities that are available to affected individuals.
There are many disorders or syndromes that cause people to behave and act differently than others. Out of all these syndromes, I picked one of them. This is a very rare syndrome and an estimate of 4% of children in the U.S. have it. It is known as the translocation down syndrome. Translocation down syndrome is a type of down syndrome caused by rearranged chromosome material. A child with translocation down syndrome has 3 #21 chromosomes instead of the two pairs. Here,one of the chromosomes is attached to another and the extra chromosome is what causes the health problems is what causes the health problems associated with the disorder known as down syndrome.
There are so many types of mental illnesses that affect people every day. When some people think of mental illnesses they think of the ones that would cause people to have physical symptoms as well, but that’s untrue, there are many more that you would never know anyone has if you were to see them on the street. As defined by the 2008 encyclopedia “a mental illness is any disease of the mind or brain that seriously affects a person’s ability or behavior. Symptoms of a mental illness may include extreme moods, such as excessive sadness or anxiety, or a decreased ability to think clearly or remember well.” A mentally ill person has severe symptoms that damage the person’s ability to function in everyday activities and situations. Every nation and every economic level can be affected by a mental illness. In the United States alone about 3% of the population has severe mental illness and to add to that number about 40% of people will experience a type of mental illness at least once in their lives. Some cases of mental illnesses can go away on their own, but some cases are so severe that they require professional treatment. There is so much more available to help people recover from their symptoms than in the past.
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, delayed development of speech and language, mild to moderate intellectual disability and hyperactive behavior. Symptoms of Fragile X can start by the age of two, or earlier. Men affected by Fragile X mostly experience mild to moderate intellectual disabilities. Since Fragile X is more common in males, they tend to experience symptoms more than women do. Intellectual disabilities usually only affect about one-third of women that have Fragile X. Children with Fragile X experience anxiety and tend to fidget more than normal or have impulsive actions. Many children may also have ADD which allows them not to be able to focus as much as a normal child would. Behavioral abnormalities are a common feature of Fragile X. Biting at the hands, flailing hands are arms and gaze aversions. When it comes to deficits, they most likely occur in reasoning, processing the environment and mathematics. Individuals with Fragile X may show features of autism, this mainly occurs in only about one-third of individuals with Fragile X. Another symptom of Fragile X is seizures. Again, since Fragile X is more common in males, seizures are more common in males. While only five percent of women experience seizures, about fifteen percent of males experience seizu...
According to Li, O’Brien, Snyder, and Howard (2016), problematic internet use may lead to serious psychosocial dysfunction and has resulted in a proposed diagnostic criterion for the DSM-5 in order to assess the disorder. In the United States, 6% to 11% of internet users are problematic internet users. Researchers, in fact, compare problematic internet use to the assessed criteria for gambling and internet gaming disorder. They have also concluded that college-aged teens and young adults are at most risk due to the availability of internet access around them and the direct relationship between the internet and education. Symptoms include impaired physical health such as obesity or sleep disorders, psychological distress, and behavioral problems. Students may also experience more interpersonal problems and worse school and work performance.
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
The people with disabilities are portrayed as hardworking. They have people surrounding them that are accepting and encourage them to do their best. The support helps them build up courage to overcome their disability. It can take years, but the effort will not be
There is no known single cause of autism. Researchers are investigating a number of possible theories including genetics, heredity, medical problems, problems during pregnancy or delivery, as well as environmental influences. It is widely accepted that it is caused by abnormalities in the brain structure or function. There is evidence from neuropathological studies that autism has its origins in abnormal brain development early in prenatal life which continues postnatally, showing acceleration in brain growth measured by head circumference (Zwaigenbaum, L., Bryson, S., Rogers, T., Roberts, W., Brian, J., & Szatmari, P., 2005). The disorder also seems to have a genetic basis, although researchers have yet to find the specific genes that link to the onset of autism. There could be a cluster of genes that have somehow interfered with normal brain development and function. Studies show that twins of children with autism were more likely to be autistic themselves than the regular population, demonstrating there is a heredity lin...
positive and negative. Some of these treatments include Early Start Therapy and the Early Start
Autism is an intricate developmental disorder that is characteristically noticed by parents and or diagnosed by parents between the ages of eight-teen months and three years of age. In recent studies, Werner (2001) isolated themes from in-depth interviews conducted with different parents of children with autism. These themes included the following findings: the family’s life revolves around dealing with the child’s autism and unusual behaviors; parents feel losses because they and their children cannot lead a so called normal life; and the family experiences only fleeting moments of actually feeling like a typical family. Autism does not effect a particular type of person it occurs in all social, racial, and ethnic groups.
Now, children with intellectual disabilities are respected, and cared for just like anyone else. This was not true prior to the mid 19th century. People and doctors feared them and they were often ignored. As time continued throughout history things changed for the better. Some people may have believed that someone either had an intellectual disability or not, but this is not true. There are different levels to it. Children with an intellectual disability can and do attend regular schools with a little extra help, but they do experience emotional and behavior problem along the way. Not all causes for intellectual disabilities can be found, but there are a few known ones. With all of this said, there are ways to prevent intellectual dishabilles and ways to treat it as well.
This project will discuss the need for quality healthcare for people with intellectual disabilities. People with intellectual disabilities are not experiencing the quality health care that that are worthy of from health care professionals when they are hospitalized (reference). Those living with intellectual disabilities are a significant part of the American population. Individuals with intellectual disabilities often times struggle with complications such as, asthma, gastrointestinal symptoms, skin allergies, migraines, headaches, and consequently seek help from healthcare professionals on a regular basis and often experience discrepancies in the care they receive (reference). The reason for the lack of quality health care for those who