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. Even if the child has not been diagnosed with FXS, they may be eligible for services.
These services are provided through an early intervention system in each state. Through this system, you can ask for an evaluation. In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal diagnosis. While early intervention is extremely important, treatment services at any age can be helpful. Learn more about early intervention » external icon.
Local public school systems can provide services and support for children age 3 years and older. Children can access some services even if they do not attend public school. States have created parent centers. Adults with Fragile X have specific problems therefore the understanding and management of these problems can be helped once a diagnosis of Fragile X is confirmed. Secondly, a diagnosis has implications for other relatives. They could benefit from testing and genetic counselling. The expanded "Fragile"-appearing site can be seen at the bottom of this chromosome.
Fragile X Syndrome is the most common inherited cause of learning disability, and we recommend that testing for Fragile X Syndrome is considered for all people with a learning disability or developmental delay.
Fragile X testing should also be considered for anyone with autism or autistic-like behaviours, as Fragile X is thought to underlie up to 1 in 20 cases of autism. In addition, there are symptoms associated with being a Fragile X carrier , meaning that Fragile X testing should be considered for women experiencing premature ovarian insufficiency or early menopause or for those particularly men in later life experiencing Parkinson's-like symptoms tremor, ataxia or cognitive decline.
Referral for a Fragile X DNA blood test is usually arranged via a medical professional, for example the family GP, or by the child's paediatrician if he or she has one. Clinical laboratories do not offer testing to measure Fragile X protein FMRP levels, since this information is not useful for medical care at the present time. For specific questions, ask your genetic counselor or other qualified healthcare provider to review the lab report with you.
Major genetic testing labs currently require an order from a healthcare provider. This is an important safeguard to ensure that individuals being tested receive appropriate notification, education, follow-up, and medical support about the meaning of the results. Many factors influence insurance coverage and out-of-pocket costs related to genetic testing.
In the U. While some insurers do not cover any genetic testing, most offer it as a covered benefit under certain circumstances, such as the diagnostic evaluation of a child with developmental delay. If genetic testing is a covered benefit, families may still be responsible for some costs, depending on whether they have met their deductible or if their specific policy requires a co-pay or co-insurance. The genetic testing laboratory or ordering healthcare provider may have office staff who can assist families in determining their estimated out-of-pocket cost for Fragile X testing.
In addition to blood samples, many labs now offer the ability to do Fragile X testing on a saliva or buccal cheek swab sample. The testing is very accurate for all sample types, and the type of sample submitted does not influence the results. The same type of test is used regardless of whether DNA is extracted from blood, saliva, or cheek cells. Occasionally, the lab is not able to get enough DNA from a saliva or buccal sample and may ask for a repeat sample.
This happens far less often with blood samples. Laboratory reports typically include the number of CGG repeats detected through PCR analysis, based on the following interpretation standard:. Also see our infographic below this list, or watch a short 2-minute video.
Think of methylation like a light switch for a gene. Most labs report methylation status when a Fragile X full mutation is detected, but this is not typically included on reports for premutation or intermediate expansions. Families who have questions about methylation should discuss the specifics with a genetic counselor.
You might hear a parent say their child is mosaic and have no idea if this applies to your child. For Fragile X, there can be mosaicism for different sizes of CGG repeats or different levels of methylation. Most testing laboratories are able to detect significant mosaicism as part of Fragile X DNA testing but will only note it on the lab report if the sample is positive. If a report makes no mention of it, then the lab most likely did not find mosaicism. The finding of an intermediate allele in a child with a developmental disability most likely does not explain his or her symptoms, and alternative explanations should be considered.
The overwhelming majority of individuals found to have intermediate alleles, including many hundreds of men and women identified through routine carrier screening, report no history of learning or developmental problems.
Studies have shown that males and females with intermediate alleles produce normal amounts of Fragile X protein, in contrast to those with full mutations who lack this protein and have FXS.
That being said, there have been a handful of published reports of male and female children with FMR1 intermediate alleles having behavioral and developmental symptoms that overlap with those in FXS. In fact, a large study involving 35, children did not find any increased rate of FMR1 intermediate alleles or premutations in children with developmental disorders as compared with children in the general population.
While the presence of an intermediate allele has not been linked to FXPOI or infertility, a small number of research papers have suggested a possible association with FXTAS symptoms in older adults. Additional research is needed to confirm any potential connection between intermediate alleles and these findings. While the presence of an intermediate allele has not been linked to FXPOI or infertility , a small number of research papers have suggested a possible association with FXTAS symptoms in older adults.
Unlike many other genetic changes that are passed down in a straightforward way, inheritance of the FMR1 gene is very complicated. When a person first learns that he or she has a Fragile X intermediate allele, there is often a lot of confusion and anxiety about its meaning, even among medical providers who may mistakenly say that the person is a Fragile X carrier.
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