What is the prognosis of fragile x syndrome26.02.2021
Fragile X Syndrome (FXS)
43 rows · May 12, · Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems, such as ear infections and/or seizures. Aug 31, · FXS can cause learning disabilities, developmental delays, and social or behavioral problems. Disabilities vary in severity. Boys with FXS usually have some level of intellectual disability. Author: Jacquelyn Cafasso.
Fragile X syndrome is a genetic disease, which is inherited and causes developmental and intellectual disabilities in the patient. The commonest hereditary cause of mental disability in proggnosis is Fragile X syndrome. Patients having fragile X syndrome commonly have a range of learning and developmental problems.
This syndrome is a life-long medical condition. Very few people suffering from fragile X syndrome are able to lead an independent life. According to studies, fragile X syndrome is seen in about 1 in every 8, females and 1 in every 4, males.
Males tend to have more severe symptoms when compared to females. There is no cure for fragile X syndrome and treatment is done to help the patient manage the symptoms. There are two types of sex chromosomes; one is Y chromosome and the other is the X chromosome. Men have one Y chromosome and one X chromosome; whereas women whta two X chromosomes.
The defect in the FMR1 gene hinders the gene from properly making a protein known as fragile X mental retardation 1 protein. This protein plays an important role in the nervous system function.
However, the proper function of this important protein is not what is norah jones birth name understood. A shortage or lack of this protein produces the symptoms of fragile X syndrome. Fragile X syndrome causes developmental delays, learning disabilities, and social or behavioral problems in patient.
The disabilities differ in severity from patient to patient. Male patients commonly have some degree of intellectual disability. Female patients can also have some learning disability or intellectual disability or both.
However, many women having fragile X syndrome often have normal intelligence. Patients having fragile X syndrome display the following signs and symptoms during childhood and adulthood:. There are some patients with fragile X syndrome with physical abnormalities or some facial abnormalities such as:. The testing for fragile x syndrome can be done in children who display developmental delays or have other signs of this syndrome progonsis an increased circumference of the head or some other mild differences in features of the face.
This test looks for any changes in the FMR1 gene related to fragile X syndrome. Fragile X syndrome has no cure. The aim of treatment is helping the patient with fragile X syndrome lead a better life by learning primary skills, such as what makes a person look older social interaction and language use. This comprises of getting extra help from therapists, teachers, family members, coaches and vragile.
Medications for child with fragile X syndrome are usually prescribed for behavior problems, such as anxiety, depression, attention deficit disorder and other symptoms of fragile X syndrome. Fragile X syndrome is a condition which persists for tge entire life what rivers are in pittsburgh the patient.
The life expectancy of a patient with fragile X syndrome is thought to be the same as any other normal person. The prognosis also depends on the degree of the symptoms of this condition. This article contains incorrect information. This article does not have the information I am looking off. Ask A Doctor Now. This article on Epainassist. We follow a strict editorial policy and we have a zero-tolerance policy regarding any level of plagiarism.
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What is Fragile X Syndrome?
Oct 23, · Fragile X syndrome (FXS) is one of the most common causes of inherited intellectual disability. CDC is working to learn more about fragile X syndrome and fragile X-associated disorders to improve the health and well-being of people with these conditions. 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 . Apr 22, · Prognosis & Life Expectancy for Fragile X Syndrome Fragile X syndrome is a condition which persists for the entire life of the patient. This condition will affect all the aspects of a patient’s life, including work, school and social life.
Medically reviewed by Drugs. Last updated on July 6, Fragile X syndrome is an inherited disorder associated with mental retardation and a particular appearance. This gene is found on the X chromosome, one of the two chromosomes X and Y that determine gender. In people with fragile X, a particular section of the DNA code — CGG — is "fragile" and gets repeated an unusually large number of times, compared with the normal 5 to 50 times. As a result, the FMR1 gene is not expressed turned on , and the body cannot produce FMR1 protein, which is related to nerve function.
Depending on the number of CGG repetitions, fragile X can have a variety of physical, intellectual and behavioral effects.
People with more repetitions tend to have more severe symptoms. For example, people with or more CGG repetitions are described as having a full fragile X mutation and usually develop many of the symptoms of fragile X syndrome, including mental retardation. People with 59 to CGG repetitions are described as having a fragile X pre-mutation and may not show any obvious signs or symptoms of fragile X syndrome.
The number of CGG repetitions can increase when the gene is passed from generation to generation, increasing the chance of developing the full fragile X mutation. Fragile X syndrome is seen in approximately 1 in 4, to 6, males and 1 in 8, to 9, females. However, many more people carry the fragile X pre-mutation, but show no signs or symptoms of the syndrome.
Fragile X syndrome is the most common inherited cause of mental retardation in males. Fragile X tends to be milder and less obvious in females. A female normally inherits two X chromosomes, one from each parent. If one of the X chromosomes has the fragile X mutation, the other X chromosome, inherited from her unaffected parent, can partially compensate for the incorrect genetic information.
About half of affected females show no symptoms of fragile X syndrome. The other half have symptoms, especially learning disabilities, behavioral problems or intellectual impairment. In males, fragile X tends to be more obvious and more severe. A male child usually inherits only one X chromosome, from his mother. If that X chromosome has the fragile X mutation, the child most likely will have the full fragile X syndrome because the Y chromosome inherited from his father does not carry the genetic information that can compensate for the problem.
It is also associated with neurocognitive problems. The doctor may suspect that your child has fragile X syndrome based on your child's physical appearance and symptoms and a history of behavioral problems or learning difficulties at school. Your doctor also may ask about a family history of intellectual or behavioral problems. In young children, there may be no obvious physical symptoms, so the suspicion may be just based on developmental delays. Your doctor can confirm the presence of a fragile X pre-mutation or mutation by taking a sample of blood and sending it for a DNA test that will count the number of CGG repetitions in the FMR1 gene.
There is no way to prevent fragile X syndrome. Affected people can have genetic testing and genetic counseling to get information about their risk of passing fragile X to their children. There is no way to correct or remove the extra CGG repetitions that cause fragile X syndrome. Treatment focuses on relieving symptoms and maximizing a child's potential.
This can include:. Newer approaches to treatment are based on research studies that show changes in brain function related to FMR1 activity. Changes in the FMR1 gene change the way nerve cells "talk" to each other within the brain. Scientists are now studying medications that try to correct this communication breakdown. Any child with unexplained developmental delays should be tested for fragile X syndrome, because the symptoms are not very specific in young children.
Call your doctor if you suspect that your child has fragile X syndrome that has not been diagnosed or if you have questions about your risk of having a child with fragile X syndrome. If you have a close relative who has been diagnosed with fragile X syndrome or if you have family members with unexplained mental impairment, ask your doctor whether you need to be tested for fragile X.
The outlook for children with fragile X syndrome is better when the disease is diagnosed early. Among people with a full fragile X mutation, about half of females and almost all males have lifelong mental retardation.
People with fragile X syndrome usually have a normal lifespan. Fragile X carriers can have other symptoms. Among women with a permutation, 1 in 5 experiences premature ovarian failure.
Among men and women with a permutation, there is an increased risk of another neurological problem called fragile X tremor-ataxia syndrome FXTAS. Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
Fragile X Syndrome Medically reviewed by Drugs. Symptoms Signs and symptoms vary and can include: Large head, elongated face; large, bulging ears; prominent chin and forehead; high arched palate roof of the mouth ; flat feet; large testicles in boys especially after puberty Other physical problems, including imbalance of eye muscles strabismus , serous otitis media fluid in the middle ear that is not infected , unusually flexible joints, seizures and mitral valve prolapse Cognitive and intellectual problems, including mental retardation, learning disabilities and abnormal speech Behavioral problems, including hyperactivity, attention difficulties, avoidance of eye contact and other behaviors on the autism spectrum, violent outbursts especially in teenage boys , and an unusual sensitivity to environmental stimuli such as sights, sounds, smells and touch Fragile X tends to be milder and less obvious in females.
Diagnosis The doctor may suspect that your child has fragile X syndrome based on your child's physical appearance and symptoms and a history of behavioral problems or learning difficulties at school. Expected Duration Fragile X is an inherited genetic problem that is present at birth and lasts throughout life.
Prevention There is no way to prevent fragile X syndrome. Treatment There is no way to correct or remove the extra CGG repetitions that cause fragile X syndrome. This can include: A special education program with modifications in classroom environment, teaching materials and curriculum Psychological counseling for the affected child and family Occupational therapy and speech-language therapy Medication to treat hyperactivity, attention difficulties, violent outbursts and other behavioral problems For adolescents and adults with mental impairment, vocational training and, if indicated, placement in a group home Newer approaches to treatment are based on research studies that show changes in brain function related to FMR1 activity.