Doctor insights on:
Fragile X Syndrome Life Span
Normal unless: Most patients with fragile x are otherwise normal except for mild learning and behavioral problems. Occasional cases may suffer seizures and some can have other medical problems. The life expectancy is based on the other medical problems - not the diagnosis of fragile x. ...Read more
Developmental help: Fragile X syndrome can predispose your baby to developmental and learning issues. It is important to have your baby evaluated by Early Intervention, a program to support infants with delays. Call your doctor to get this information. ...Read more
Depends on your dfn: Significant impairment (iq<70) in FAS is felt to represent 1/3600 of the population, mostly male. A lesser form of involvement with lesser alterations in this gene (add, behavior issues) may affect 1/130-250 female & 1/250-800 males. See: www. Ncbi. Nlm. Nih. Gov/pmc/articles/pmc2888470/? Tool=pmcentrez. ...Read more
Male dominated: The fragile x is named for a non staining region on the long arm of an x containing useless genetic material that results in mental impairment & physical changes (if you only have 1 x:males).The females usually show few if any features due to protection by a normal x, but not always & have a 50% chance of passing the fragile x to any offspring. This is a male dominated form of mental impairment. ...Read more
You don't: The fragile X defect exists in every cell of the person's body. The defective material has a variable effect on the function of each cell. There is no cure. Identification and support for intellectual challenges and any related health issues are the limit of current care. ...Read more
No: Those with this disorder have the abnormal chromosomal material in every cell of their body. There is no "pill" to correct its effects. The extra material is thought to confuse the cell by providing defective information as the cell tries to carry out its delicate metabolic functions. It is more important in some cells than others, which is why these individuals can appear so normal in most respects ...Read more
A genetic disorder: Both males and females have an X chromosome (girls have two, boys have one and one Y chromosome). Fragile X is a genetic problem that causes a range of developmental issues, including learning disabilities. Males are more severely affected because they only have one copy of the X chromosome. They can have symptoms that resemble attention deficit disorder or learning issues. ...Read more
They grow up!: Boys and girls with fragile x syndrome grow up to be men and women with fragile x syndrome: loved and loving people with full lives. Like many adults with disabilities, they need help with work, housing, food, transportation, and health care. A number of organizations, like the national fragile x foundation, can help. Http://www. Fragilex. Org/treatment-intervention/adults-life-planning/. ...Read more
Delay: Fragile x syndrome is one of the most common reasons for inherited developmental delays in boys. Fragile x patients can be identified thru genetic testing and how they might look on physical exam. Such delays can be seen in lots of kids without a diagnosis of fragile x. So that means that boys w/developmental delays can't be labeled as fragile x, w/o genetic test confirmation. ...Read more
Fragile X: Fragile X syndrome is a genetic disorder. The abnormality is found on mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome. The mutation is repetition of FMR1 gene Affected males have intellectual and developmental delays and 33% of affected females have intellectual delays. Affected individuals may have large heads and long faces. ...Read more
Autism: There are many symptoms in the autistic spectrum disorder. ...Read more
Male dominated: The fragile x is named for a non staining region on the long arm of an x containing useless genetic material that results in mental impairment & physical changes (if you only have 1 x:males).The females usually show few if any features due to protection by a normal x, but not always & have a 50% chance of passing the fragile x to any offspring. This is a male dominated form of mental impair ...Read more
Unknown: Because autism is so common, we do not know whether this is cause or effect. I have treated fragile x in the same way as other kids who are autistic. There is some basic science info that suggests that the fragile chromosome is lacking in folate (folic acid) and we know that autistic kids cannot use folate (folic acid) and have to be given folinic acid to get around this. A lot more research is needed. ...Read more
Fragile x syndrome: Fragile x is the leading known genetic disorder that causes autism. The affected have mental retardation and 15to60 percent chances of havind autism spectrum disorder.There is social withdrawl, language deficit disorder and others.Children need one to one teaching and taining and sometime meds, and it costs a lot of money and resources to the school systems, medical care and taxpayers. ...Read more
Fragile X Behavior: Fragile x is a leading cause of intellectual disability and many people with fragile x meet the criteria for autism. There can be disturbances in language/communication, social anxiety, social deficits including poor eye contact and shyness. There is also an increased risk of other mental disorders. Each person with fragile x should be seen as a person with individual strengths and weaknesses. ...Read more
Fragile X: Per say is not fatal. Males are more likely to be accident prone and suffer seizures than females. The risk of seizures is 17-40% depending on the series studied. (Much higher than this in my series of patients) Ataxia, hypotonia and unpredictable responses to changes in environment can lead to accidents. But the disease itself is not fatal. ...Read more
Not preventable: While there is no way to prevent fragile X disorder, treatment with folic acid, a vitamin can be helpful with the behaviours if necessary. Behavioral therapy, applied behavioral analysis, A variety of medications are available for symptoms. You should consult a specialist working with children with Fragile X. ...Read more
Genetic Testing: Many infants and children with fragile x have no distinct physical features. As teens characteristics can develop such as a longer face/jaw and larger, more noticeable ears. Most do not grow as tall as their peers, tend to have hyperflexible joints. Many people with fragile x have impaired intellectual functioning. Definitive diagnosis is made with genetic testing (usually a blood test). ...Read more
Variable symptoms: The fragile x is usually passed through apparently asymptomatic carrier mothers who have a normally functioning x to cancel out the information of the altered x. Detailed evaluation of some of these females has shown subtle deficiencies in some learning parameters, giving us an understanding that girls may show partial expression of the abnormality, but never to the degree of the male. ...Read more
1943: First noted in 1943 an x-linked pedigree with enlarged testicles. Chromosome defect described in 1969. Name of defect was coined in 1970. ...Read more
Fragile x syndrome:
Fragile x syndrome is x linked dominant condition. It does not follow usual pattern of inheritance for x linked
male carriers pass their premutations to all their daughters. Male cwith full mutation can pass premutation to all their daughters.
The females with full mutation are able to pass full mutation on, so therotically there is 50% chance that a child will be affected. Iam sorry but it is littl. ...Read more
קבוצת תמיכה: Check for contacts in Israel on these pages: http://www. Fragilexawareness. Com/international-fragilex-websites *AND* http://www. Fragilex. Org/community/international-family-support-network-clinics ...Read more
They are both "genetic" conditions but they are different in the spectrum of issues they present-.
People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is.
People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems. They both may exhibit autistic traits, more so fagile x. ...Read more
Different chromosome: Fragile x is a condition created when an abnormality in a faulty x chromosome is allowed to interfere with the cells in the body. In females, their other x prevents most problems while males with a y cannot block the abnormality. Down syndrome has a whole or extra piece of a 21 chromosome in every cell which interferes with normal cell function. ...Read more
What to do if I have a 22 year old son with fragile x syndrome. I was told that they are developing a drug that either cures?
Specialist: It depends upon what the symptoms are. Some people with this suffer from developmental, intellectual and emotional issuesthis is caused by the effects of the chromosomal abnormalities. There may eventually be medications that help the symptoms, but I am not aware of a cure as of yet. Seeing a specialist for these issues to develop a plan of therapy would be wise. ...Read more