Many patients with Fragile X suffer from seizure disorders, which are treated with anticonvulsants. In most cases, testing for Fragile X is not done routinely unless one of the parents is a known carrier. The effects can range from undetectable to severe. At the age of one, he was sent to a developmental pediatrician, where extensive testing was done.
Fragile X is an inherited symdrom caused by the FMR1 gene. A lot of kids do not like to touch objects that feel funny to them such as a ball that is squishy They usually develop a little slower than normal children. At the age of 1 year, when the Fragile x essay had only just began sitting independently, his doctor decided that it was time to explore the issue further.
For males it is XY for sex chromosomes and females is XX.
There are several ways to help the client to improve in these areas, which will be discussed in the fowolling care plan. If a person has anywhere between repeats, he or she has the premutation, and any number of repeats above is the full mutation Prognosis According to Moorjani, patients diagnosed with Fragile X have a normal life expectancy, in fact, they are even at a decreaced risk of cancer due to their mutated gene.
About 1 in women carry fragile X and could pass it to their children. This syndrome can Fragile x essay just some cases of mental retardation and behaviors problems. The forehead of these individuals may be large. The FMR1gene is responsible for instructions for making protein FMRP which help in regulating the production of other proteins and in the development of synapses, specialized links between nerve cells.
After further examination, it was apparent that there was definitely something causing the delays in his development. They soon learned about the FMR1 gene, and that his mother had been a carrier. The rationale for these interventions is that asking him if he needs to use the toilet will help to remind him that it is important to think about whether or not he needs to use the toilet throughout the day, praising him for attempting, even when uncessful will encourage him to keep trying, and reinforcing successful trips to the restroom will increase the liklihood that he will continue to use the toilet successfully in the future.
About 1 in men carry fragile X; their daughters will also be carriers. The clients mother did not yet know that she was a carrier of the FXS gene.
The autistic characteristics that he demonstrates incude cherwing on hands, poor eye contact, and extreme shyness. Males diagnosed with Fragile X have an average IQ of between 45 and He has a positive outlook compared to many who have similar symptoms. He is considered to have mild to moderate intellectual disability.
Diagnostic Criteria When our client was born, everything seemed normal, but as he grew it became apparent that something was wrong.
Similarly, children begin crawling between 7 and 11 months, and typically begin walking between 13 to 15 months. It is more likely in males because they only have one X and one chance.
Our client reached major milestones later than the average child. Three interventions have also been put into place for the long term goal, which needs to be met by May 30th, The client is slightly delayed when cognitive development is considered as well.
A person can either be a carrier who does not have the potential of passing the mutation to offspring, will have a slight possibility of passing the mutation, or will definately pass the mutation depending on the number of CGG repeats.
They can also develop different symptoms in the course of their growth. Nevertheless, there are a number of symptoms associated with fragile x syndrome.
Our clients parents have been attending a support group for parents who have children with intellectual dissabilities as well as seeing a counselor to help them cope with the emotional toll it is taking oth them.
There is only one way to find out if someone has fragile X Syndrome. Our clients pediatrician referred him to a developmental pediatrician to have a more extensive assessment done. There is a chance that you kid can have it if you are a carrier for the Disease.
Many people classify Fragile X Syndrome and Autism has the same thing. Many people classify Fragile X Syndrome and Autism has the same thing. There are many things out there that can help with Fragile S Syndrome.
Healthy humans all have 46 chromosomes, two of which are sex chromosomes; females have two X chromosomesand males have an X and a Y chromosome. It is not percent proven that it is the cause but there are studies that show that it can be a possible cause.Below is an essay on "Fragile X Syndrome" from Anti Essays, your source for research papers, essays, and term paper examples.
Fragile X Syndrome: A Genetic Disorder Fragile X is a genetic disorder that causes mental retardation/5(1). Fragile X Syndrome is the most common cause of autism (FRAXA 1).
Autism is a developmental disability. There is no known cause but Fragile X Syndrome can have something to do with it.4/4(1). Causes The most important cause of this symptom is genetic abnormalities and mutation of the fragile X retardation 1 gene (FMR1) on the X chromosome.
This leads to development of more CCG trinucleotide repeats in the position 5’. Some of the symptoms of Fragile X Syndrome in males is large ears, flexible joints, low muscle tone, broad forehead, flat feet and soft, fleshy skin.
“In our sample of 75 parents of young boys with fragile X syndrome, typically someone first becomes concerned about the child around months of age/5(1).
Some people have normal sex chromosomes but people that have Fragile X Syndrome, they have a bend in their X chromosomes. Just because one of your children had Fragile X Syndrome doesn't mean that the rest of your kids has to have it. The condition of Fragile X Syndrome results from the failure of the synthesis or production of proteins that occurs on the FMR gene.
The FMR gene is located or is found on the X chromosome. The mutations that occur in the gene are the ones that cause the defects on the X chromosome.Download