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Posted by: Majinn Posted on: 18.06.2020

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Did I do anything to cause fragile X syndrome? There is nothing you did before or during the pregnancy or after your child was born to cause fragile X syndrome. Fragile X syndrome is genetic which means it is caused by a change in a gene, in this case, the FMR1 gene. The change causes the gene not to work the way it should, leading to the problems seen in fragile X syndrome. Because fragile X syndrome is genetic, it can be passed on and you are at risk for having another child with fragile X syndrome. It is important to know that you have no control over whether this change gets passed on to your child or not.

Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow facelarge ears, a prominent jaw and forehead, unusually flexible fingers, flat feetand in males, enlarged testicles macroorchidism after puberty.

Fragile X syndrome occurs in approximately 1 in 4, males and 1 in 8, females. Mutations in the FMR1 gene cause fragile X syndrome. This protein helps regulate the production of other proteins and plays a role in the development of synapseswhich are specialized connections between nerve cells.

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Synapses are critical for relaying nerve impulses. Normally, this DNA segment is repeated from 5 to about 40 times.

In people with fragile X syndromehowever, the CGG segment is repeated more than times. Loss or a shortage deficiency of this protein disrupts nervous system functions and leads to the signs and symptoms of fragile X syndrome. Most people with this premutation are intellectually normal.

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In some cases, however, individuals with a premutation have lower than normal amounts of FMRP. As a result, they may have mild versions of the physical features seen in fragile X syndrome such as prominent ears and may experience emotional problems such as anxiety or depression. Some children with an FMR1 premutation may have learning disabilities or autistic-like behavior. Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosomeone of the two sex chromosomes.

The Y chromosome is the other sex chromosome. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. 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.

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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.

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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.

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I've heard that children and adults with fragile X syndrome may have significant behavior issues. What can be done to manage behaviors?

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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.

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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.

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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. I finally got my daughter potty trained, but she is still wetting herself at night. She gets upset when she wakes up. What can I do? This along with delays in potty training are frequent problems in children with fragile X syndrome.

Some behavioral tactics, such as decreasing fluids after dinner, going to the bathroom before bedtime, and waking your child to go to the bathroom when you go to bed, may help to decrease the frequency of bed-wetting. Your doctor may also be able to prescribe medications that help.

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I read that people with fragile X syndrome have connective tissue problems. What does this mean?

May 12,   Fragile X syndrome is inherited in an X-linked dominant pattern.A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes.(The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In people with fragile X syndrome, however, the CGG segment is repeated more than times. The abnormally expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called fragile X mental retardation protein. Loss of this protein leads to the signs and symptoms of fragile X syndrome.

Connective tissue connects and supports other tissues and includes cartilage, blood, and bone. We're not entirely sure why individuals with fragile X syndrome have connective tissue problems. Many of these problems are minor, such as loose, flexible or hyperextensible joints. Flat feet are also common in children with fragile X syndrome.

Findings from the present study reveal factors related to independence in adult life for men and women with fragile X syndrome that have important implications for designing interventions and services. Socioeconomic characteristics were generally not associated with independence in adult life with the exception of employment, which matched for the most part associations seen in the general population i.

However, age was predictive of a higher level of independence in several dimensions of adult life for women. This pattern suggests that women with fragile X syndrome may continue to enhance their independent skills from early to late adulthood.

The one exception to this pattern was that older women with fragile X syndrome participated in fewer leisure activities than younger women. Neurodegeneration and health problems associated with aging in women with the premutation of the FMR1 gene, such as peripheral neuropathy and chronic muscle pain e.

This possibility should be the topic of future research. Services may be needed to find ways to modify leisure activities to fit the abilities of aging women with fragile X syndrome and facilitate engagement in these activities. The only dimension of adult life associated with age for men with fragile X syndrome was residential setting; men living in group homes were the oldest, followed by men living independently, with men co-residing with parents being the youngest.

This age association may reflect changes in public policies focused on increasing independent living for adults with intellectual disability versus group home living.

As predicted, independence in adult life was predicted by functional level for men with fragile X syndrome; level of functional skills was the strongest predictor of the overall composite measure of independence in our regression models. Functional skills have similarly been shown to be a strong correlate of a variety of outcomes in adult life using heterogeneous samples of adults with intellectual disability e.

This finding suggests that services for adult men with fragile X syndrome should focus on teaching functional skills e. In contrast, level of functional skills was less important for predicting outcomes in adult life for women with fragile X syndrome. Instead, for women, ability to interact appropriately was the strongest predictor of the overall composite measure of independence for women in the regression models.

Thus, for adult women with fragile X syndrome, services focused on enhancing interpersonal skills may be best, such as social perception and the ability to relate to others. Behind functional skills, ability to interact appropriately was also an important correlate of overall independence in adult life for men with fragile X syndrome and, thus, should also be targeted in services for this group.

Given the extent of limitations in interpersonal skills, it is not surprising that the most common leisure activities for both men and women with fragile X syndrome, watching television or playing video games and listening to music, were solitary and passive in nature.

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Thus, there appears to be a strong need for services to facilitate participation in social leisure activities. Interestingly, for men, friendships were most strongly related to leisure activities. Thus, a pathway to fostering friendships for men with fragile X syndrome may be to encourage involvement in social leisure activities with others, such as going on outings, shopping, or taking a walk.

However, in fragile X syndrome, the methylation of the FMR1 gene turns the gene off when it should be turned on. When FMR1 is turned off, its protein is not made, and you see the features of fragile X syndrome. When someone with fragile X syndrome has methylation mosaicism, not all cells will have the FMR1 gene turned off by methylation. Fragile X Syndrome is an inherited disorder caused by genetics that affects a child's learning, behavior, appearance, and health. Learn more about the symptoms, causes, diagnosis, and treatment of. Fragile X syndrome is a neurodevelopmental disorder characterized by an expansion to or more repetitions of the CGG sequence of nucleotides composing the 5? untranslated region of the FMR1 gene located on the X chromosome (Brown, ).Individuals who have 55 to CGG repeats in the FMR1 gene are said to carry the middleburyfloralvt.com by:

For women, friendships were most strongly related to employment, followed by residence. Thus, having a full-time job and living independently may be important avenues for building friendships for women with fragile X syndrome.

Education was positively related to independence in adult life for both men and women with fragile X syndrome. The one exception to this pattern was that having no friends was related to having more education for men with fragile X syndrome.

Thus, services aimed at bridging the gap between these higher functioning men with fragile X syndrome and their peer groups may be needed. Such services could include finding commonalities in the interests and hobbies e.

The present study indicates that adulthood is marked by an alarmingly high prevalence of co-occurring mental health problems for both men and women with fragile X syndrome. Most of the men had been diagnosed with or treated for inattention Many of the women also had these particular mental health problems More than one third of men had also been treated for aggression These findings highlight the critical need for continued mental health services for individuals with fragile X syndrome into adulthood.

Although adults with fragile X syndrome evidence similar types of co-occurring mental health problems as children and adolescence with fragile X syndrome Bailey et al. These issues should be the focus of future research. As expected, men and women with fragile X syndrome who were diagnosed or treated with a larger number of co-occurring mental health conditions had less independence in adult life.

The presence of autism spectrum disorder was an important predictor of overall independence in adult life for men, even after controlling for functional skills. Thus, consistent with previous findings e. These findings indicate that that it is critical for services for adults with fragile X syndrome to be aimed at co-occurring mental health conditions, as these are critical to their independence in adult life, with particular focus on autism symptoms for men and affect problems for women with fragile X syndrome.

There are several limitations to this study.

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Our sample of adults with fragile X syndrome came from a large national survey study of families with fragile X syndrome, and the families in this study were predominately Caucasian, highly educated, and had relatively high household incomes. The present study may have underestimated the level of independence of women with fragile X syndrome in adult life, as the families of high-functioning women may have been less likely to participate in this survey.

There was also a relatively large amount of missing data in the survey and, in particular, in the reporting of education for adults with fragile X syndrome and their mothers. Some of these missing data appear to be for lower functioning adults with fragile X syndrome and may have stemmed from confusion regarding whether the son or daughter received a high school completion certificate. Therefore, the few analyses including this information may not reflect the outcomes of these lower functioning adults with fragile X syndrome.

Furthermore, detailed information regarding each dimension of adult life was not obtained in the survey study. For example, the extent to which adults with fragile X syndrome were employed in sheltered workshops versus community jobs is unknown. In addition, parents may also have used different criteria when rating friendships. Last, in this study we assessed a limited array of dimensions of adult life. Important cts of adult life, such as the extent to which men and women with fragile X syndrome were married or had children, were not addressed in this study.

In our sample, Moreover, our composite measure of independence in adult life assumed an equal weighting of the five dimensions i. Although this is a good starting point, future studies will need to consider the relative importance of these dimensions for understanding success in adult life. Even given these limitations, this study provides the first large-scale examination of adult life for men and women with the full mutation of the FMR1 gene.

Men and women with fragile X syndrome had very different adult lives. Level of functional skills was the strongest predictor of independence in adult life for men, and ability to interact was the strongest predictor of independence in adult life for women. Co-occurring mental health problems were strong factors associated with outcomes in adult life for both men and women.

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Co-occurring autism spectrum disorder in addition to fragile X syndrome was a critical determinant of outcomes in adult life for men, whereas affect problems influenced outcomes in adult life for women.

Findings indicate that services for adults with fragile X syndrome should not only be focused on teaching functional skills but should target improving interpersonal skills and managing co-occurring mental health conditions.

Preparation of this article was supported in part by the U. Seltzer; T32 HD to L. We thank the research collaborators and organizations who supported the recruitment of study participants and the families who completed the survey. Sigan L. Hartley, University of Wisconsin-Madison.

Donald B. Bailey, Jr. National Center for Biotechnology InformationU. Am J Intellect Dev Disabil. Author manuscript; available in PMC Dec Author information Copyright and License information Disclaimer. Hartley, University of Wisconsin-Madison. Correspondence regarding this article should be sent to Sigan L. Copyright notice. See other articles in PMC that cite the published article.

Abstract Using data from a national family survey, the authors describe the adult lives i. Method Participants The present analyses were based on data from a larger survey assessing the characteristics and needs of families who had at least one child who had the premutation or full mutation of the FMR1 gene Bailey et al.

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Procedures Families were sent a letter and brochure inviting them to enroll in the study during the summer and fall of Measures Independence in adult life Families indicated the residential setting of their child with fragile X syndrome as living in a hospital, residential treatment center, or mental health facility; living in a community group home; co-residing with parents; or living independently i. Predictors of independence Demographic information about the family e.

Fragile X Syndrome

Plan for Analysis In the following sections, we provide descriptive data for men and women with fragile X syndrome with respect to demographic characteristics age, race, and maternal education as well as their health, education, functional skills, ability to interact, and co-occurring mental health problems.

Results Characteristics of Adults With Fragile X Syndrome Prior to describing results for each dimension of adult life, we report on the characteristics of the men and women with fragile X syndrome, as presented in Table 1. Table 1 Characteristics of Participants. Open in a separate window. Boldfaced numbers also denote statistical significance.

Independence in Adult Life Table 2 presents the number and percentage of men and women at various levels of independence in each dimension of adult life as well as for the overall composite measure of independence.

Adult Characteristics by Dimension of Adult Life: Residential Setting We examined differences among men and women with fragile X syndrome who lived independently, who co-resided with parents, and who lived in a group home with respect to their functional skills, ability to interact appropriately, and number of co-occurring mental health conditions. Adult Characteristics by Dimension of Adult Life: Employment Figure 1 presents the percentage of men and women with fragile X syndrome in various types of jobs.

Figure 1. Percentage of men and women with fragile X syndrome employed in various types of jobs. Adult Characteristics by Dimension of Adult Life: Assistance Needed With Everyday Life Table 5 presents a parallel set of analyses focusing on level of assistance needed with everyday life. Adult Characteristics by Dimension of Adult Life: Friendships Table 6 presents the results of the similar analyses focusing on friendships.

Adult Characteristics by Dimension of Adult Life: Leisure Activity Figure 2 presents the percentage of men and women who participated in various types of leisure activities. Figure 2.

Predictors of Independence in Adult Life Hierarchical linear regressions were conducted to determine the relative strength of adult characteristics on the overall composite measure of independence.

Discussion To our knowledge, the present study offers the first large-scale examination of the adult lives of men and women with the full mutation of the FMR1 gene.

Acknowledgments Preparation of this article was supported in part by the U. Contributor Information Sigan L.

Fragile X syndrome (also called Fragile X) is the most common inherited form of mental problems (mental retardation).; Fragile X syndrome is caused by changes in a single X chromosome (FMR1).FMR1 does not produce enough protein (FMRP) that works cell communication.; Normal X genes that control FMR1 levels have promoter regions consisting of about 6 to 40 CGG; Fragile X genes . Ask Ruth what it's been like having two sons with full mutation fragile X syndrome, and she'll tell you. "It's been so hard. But it's changed my life. I love it all. Even the struggles have been strengthening." Ruth's two sons, John and David, are both middle-aged. John is about to. Fragile X syndrome (FXS) is an inherited genetic disease passed down from parents to children that causes intellectual and developmental disabilities. It's also known as Martin-Bell middleburyfloralvt.com: Jacquelyn Cafasso.

Language development and fragile X syndrome: Profiles, syndrome-specificity, and within-syndrome differences. Clinical features of boys with fragile X permutations and intermediate alleles. American Journal on Mental Retardation. Autistic behavior in young boys with fragile X syndrome. Journal of Autism and Developmental Disorders.

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No change in age of diagnosis for fragile X syndrome: Findings from a national parent survey. The functional skills of individuals with fragile X syndrome: A lifespan, cross-sectional analysis. American Journal on Intellectual and Developmental Disabilities. Co-occurring conditions associated with FMR1 gene variations: Findings form a national parent survey.

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