These can include:. Some children with fragile X may also have mildly characteristic features such as prominent ears. Fragile X is more common in boys than girls, and boys with fragile X usually have more severe symptoms.
Both boys and girls with fragile X can have certain behavioral and intellectual traits, though girls often have milder symptoms. Some children with fragile X also have physical traits, which may become more noticeable after puberty:. This protein helps create and maintain connections between brain cells and the nervous system.
When FMRP is missing, signals from the brain may be misdirected. Fragile X syndrome. Actions for this page Listen Print. Summary Read the full fact sheet. On this page. Effects of Fragile X syndrome Fragile X syndrome can cause a range of physical, developmental, behavioural and emotional difficulties in people. The most significant effects of Fragile X syndrome are: global developmental delay, including speech, language and communication difficulties intellectual disability and learning problems anxiety autism-like behaviours such as hand flapping, repeating words and sentences, and difficulty with social interactions attention deficit hyperactivity disorder ADHD poor eye contact difficulty processing sensory information.
Carriers of the Fragile X gene Although Fragile X syndrome is not that common, affecting around 1 in 3, boys and between 1 in 4, — 6, girls, the number of men and women who are carriers of the Fragile X gene is significantly higher.
Testing and diagnosis of Fragile X syndrome Fragile X syndrome and Fragile X-associated disorders can only be diagnosed by DNA testing — usually by a blood test but sometimes via cheek swab or mouthwash.
DNA testing is recommended for: people with a family history of Fragile X syndrome or intellectual disability people with intellectual disability, developmental delay or learning disability together with features of Fragile X syndrome such as anxiety, ADHD or characteristics of autism spectrum disorder men or women over 50 with balance or gait problems, tremor or dementia any woman with problems with fertility or early menopause under 40 women with family history of primary ovarian insufficiency loss of function of the ovaries before age 40 for testing before or during pregnancy.
Genetic counselling services and Fragile X syndrome The facts about Fragile X syndrome are complicated and the ramifications for families can be serious. Give feedback about this page. Was this page helpful? Yes No. View all genetic conditions.
Related information. Fragile X Alliance Clinic. Murdoch Childrens Research Institute. These statistics are important because both men and women are at risk for having symptoms linked to Fragile X-associated disorders. Women with a premutation reported their last menstrual cycle at an earlier age than women without a premutation 48 vs.
This study of 6, older adults in Wisconsin found 30 people with a change in the FMR1 gene. Based on this relatively small number of people, the results should be interpreted with caution. It has also been reported in teenagers who are carriers, though it is less common in that population. Though there are specific diagnostic criteria for FXTAS, some men may only exhibit some of the symptoms, and may not develop all of the cardinal features of the condition.
The symptoms in females tend to be milder. How common are intermediate grey area alleles? A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential.
However, the results of DNA tests can affect other family members and raise many issues. So, anyone who is thinking about FXS testing should consider having genetic counseling prior to getting tested. There is no cure for FXS. However, treatment services can help people learn important skills. Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems.
To develop the best treatment plan, people with FXS, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members. Taking advantage of all the resources available will help guide success. Early intervention services help children from birth to 3 years old 36 months learn important skills.
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