That will help your doctor manage your care. Women who are carriers are at an increased risk for premature menopause, or menopause that starts before the age of FXTAS causes a tremor that gets increasingly worse.
It also can lead to difficulty with balance and walking. Male carriers may also be at an increased risk for dementia. Children who show signs of developmental delays or other outward symptoms of FXS, such as a large head circumference or subtle differences in facial features at a young age, may be tested for FXS. The average age of diagnosis in boys is 35 to 37 months. In girls, the average age of diagnosis is Depending on the results, your doctor may choose to do additional testing to determine the severity of the condition.
FXS cannot be cured. Treatment is aimed at helping people with the condition learn key language and social skills. This may involve receiving extra help from teachers, therapists, family members, doctors, and coaches.
There may be services and other resources available in your community to help children learn important skills for proper development. Medications that are typically prescribed for behavior disorders, like attention deficit disorder ADD or anxiety , may be prescribed to treat the symptoms of FXS. Medications include:. Findings from a national survey indicate that about 44 percent of women and 9 percent of men with FXS reach a high level of independence as adults.
The majority of women achieved at least a high school diploma and about half succeeded in holding a full-time job. The majority of men with fragile X syndrome required assistance with daily activities as adults.
Few men in the survey achieved a high school diploma or succeeded in finding full-time work. They can help you understand your risks and what being a carrier means for you. You've heard the term countless times, but what does having a type A personality actually mean? We'll go over common traits, how they compare to type…. People with type D distressed personality traits experience high degrees of emotional distress, while, at the same time, suppressing their feelings…. Caudal regression syndrome, or sacral agenesis, is a rare condition where the lower spine doesn't fully form before birth.
However, the premutation is unstable and can expand to the full mutation in future generations. For reasons that are not well understood, expansion typically only occurs when the premutation is inherited from the mother. When a couple has a child with fragile X syndrome, we know that the mother is a premutation carrier as the premutation typically only expands to the full mutation when inherited from the mother.
Because mom inherited the premutation from one of her parents, her siblings and cousins are also at risk for being premutation carriers and having children with fragile X syndrome. Testing mom's parents to determine who she inherited the premutation from can tell us which side of her family is at risk for having children with fragile X syndrome. With dads, it's a little trickier. Dads can have either the normal repeat length repeats or be premutation carriers themselves.
The only way to determine this is through DNA testing. In general, testing is not performed unless there is a history of fragile X in his family. If testing is performed and dad is found to be a premutation carrier, his siblings and cousins are at risk for having children with fragile X syndrome.
If I am a premutation carrier, am I at risk for anything? Unlike many genetic disorders, being a carrier does put you at an increased risk for certain medical problems. Females who are premutation carriers are at risk for premature menopause, or loss of menses before the age of Even when occurring after age 40, the age of onset for menopause on average can occur years earlier in women who are fragile X premutation carriers.
This can be a serious concern if you are in your 30s and are planning to have another child. If you are currently trying to have a child and are having infertility problems, premature menopause could be a cause. In addition, some of the options for reducing your risk of having another child with fragile X syndrome, such as IVF with PGD, may be a less viable option due to premature menopause.
FXTAS is characterized by progressively severe intention tremor and difficulty with walking and balance. It can also be associated with dementia characterized by memory loss, trouble formulating plans, difficulty with focusing attention, and difficulty knowing what's appropriate or not. Other neurological findings may also be present. FXTAS appears to affect primarily older premutation carrier males with signs appearing in their 50s to 60s.
Recent research has also shown that some premutation carrier females may also develop FXTAS, but not as often as premutation carrier males. I want more children. Is there any way to tell whether I will have another child with fragile X syndrome?
By having a child with fragile X syndrome, you are at an increased risk of having a 2nd child with the condition. However, prenatal diagnosis is available. Either chorionic villus sampling CVS at weeks gestation or amniocentesis at weeks gestation can be performed.
With CVS, there is a preliminary result available in the first trimester although the confirmatory testing for a final result is often not available until the second trimester. In addition, certain results from CVS analysis can sometimes be difficult to interpret. For further details about why these issues can occur, talk to your genetic counselor.
With amniocentesis, results are generally available approximately 4 weeks after the procedure is performed. Even with diagnosis of a full mutation in either a male or female, it is not possible to determine what difficulties he or she may have. The decision to follow through with one of these options is a very personal one, and what may be right for one couple is not right for another.
There is no right answer. These options can be further discussed with your doctor or genetic counselor. Is this going to be a lifelong problem? Usually, feeding problems and vomiting improve with age. If feeding problems are severe, a study called an esophageal pH probe study may be done to look for reflux.
A barium swallow study may be performed to assess reflux treatment. Treatment for reflux generally involves thickening feedings and placing your child in an upright position after meals. Medication may also be needed. I've heard that children and adults with fragile X syndrome may have significant behavior issues.
What can be done to manage behaviors? It's true that many individuals with fragile X syndrome have behavior issues. Hyperactivity is common in childhood, but does tend to improve in adolescence and adulthood. Social anxiety is also common, and may be particularly severe in females with fragile X syndrome. Anxiety may lead to outbursts of aggression, particularly in males. Another concern of parents is their child's obsessive and compulsive behavior. This may manifest itself in repetitive behavior.
Usually, medications can be used to treat these behaviors. This combined with other treatment modalities, including counseling and sensory integration therapy, can be very helpful for those who have significant behavior problems.
In addition, treatments specific for behaviors can be helpful. For example, limiting excessive sensory stimulation whenever possible may prevent aggressive outbursts and social anxiety. Working with a psychologist can help children who have tantrums, oppositional behavior, or severe hyperactivity. My child suffers from seizures. Is this common in fragile X syndrome?
The types of seizures generally seen in individuals with fragile X syndrome generally respond well to anti-seizure medication. The seizures tend to resolve by adolescence, but may continue into adulthood. If you believe your child is having seizures, an appointment with a neurologist should be scheduled as soon as possible. The neurologist may perform an EEG to determine what kind of seizures your child is having and will discuss a treatment plan with you.
My child has been referred to an ophthalmologist, but he doesn't seem to have any vision problems. Corrective lenses are generally used to treat far-sightedness and astigmatism. Treatment for strabismus often involves patching, eye exercises, or lenses to strengthen the weak eye. If none of these work, surgery may be required. Attention deficit and hyperactivity, especially in young children. Anxiety and unstable mood.
Autistic behaviors, such as hand-flapping and not making eye contact. Sensory integration problems, such as hypersensitivity to loud noises or bright lights. Speech delay, with expressive language more severely affected than receptive language.
Physical Signs These features may be hard to recognize in babies and young children, but sometimes become more apparent with age. Long face, large prominent ears, flat feet.
Hyperextensible joints, especially fingers. Low muscle tone. Males may have large testes after puberty. This field is for validation purposes and should be left unchanged. Fragile X Prevalence and Inheritance Sources do not agree on the prevalence of Fragile X syndrome, but recent estimates suggest 1 in 4, males and 1 in 8, females have FXS. If she passes the affected gene, her children will either be carriers or they will have Fragile X syndrome.
Men who carry Fragile X will pass the premutation to all their daughters but none of their sons. These daughters are carriers but they do not have Fragile X syndrome. Learn What Causes Fragile X. There is hope. Additional Resources. FRAXA is funding trials of new and available medications.
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