Women With Fragile X Struggle to Identify With Disorder, Survey Finds

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by Steve Bryson, PhD |

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A survey of women with fragile X syndrome revealed that most identified with a label other than that of the chromosomal disorder, and that the majority either did not want to have a child with the genetic disease or were conflicted.

Despite most respondents reporting some learning disabilities, the majority of the women had at least a high school degree, were employed, and did not need help with daily activities, the survey found.

“Future research should be conducted to better describe the [characteristics] of females with [fragile X syndrome] and how they receive, accept, and identify with their diagnosis as well as how to best serve them with genetic counseling,” the investigators wrote.

The survey was published in the journal Women’s Health Reports, in the study, “Identity and Reproductive Aspects in Females with Fragile X Syndrome.”

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Fragile X syndrome is caused by defects in the FMR1 gene related to excessive repeats of three DNA building blocks — CGG. The C stands for cytosine and the G for guanine.

The FMR1 gene is located on the X chromosome, one of the sex chromosomes. Because males have only one X chromosome, they typically have more severe disease compared with females, who have two X chromosomes, in which the second chromosome can compensate.

As a result, the clinical characteristics of females with fragile X can vary widely, and diagnosis often occurs only when the condition is recognized in a male family member. About 25% of females with fragile X have intellectual impairments, but learning disabilities and deficits in attention and executive function, or self-regulation skills, may occur even in women without these problems.

Most women with fragile X can achieve higher levels of education, gain and hold employment, and live independently. However, emotional and psychiatric problems are common, and can include social anxiety, depression, self-injury, excessive shyness, and withdrawal. These symptoms can limit a patient’s independence and lower quality of life.

To better understand the clinical and psychosocial needs of women with fragile X, a team of researchers at the Icahn School of Medicine at Mount Sinai, in New York, now surveyed 31 fragile X adult women using an anonymous online questionnaire. Reading and writing capabilities were required to be eligible.

“This article aims to review the perspectives of women with the full mutation in relation to Fragile X Syndrome identification, romantic desires, and reproductive decision making,” the team wrote.

Among the 31 respondents, 25 reported full mutations (more than 200 CGG repeats), while four had both premutations (between 55 and 200 repeats) and full mutations. The remaining two were unsure. The majority of participants were between the ages of 25 and 44 (61%), and most reported themselves as being white (90%). One woman listed her race as Black or African American, and two said they were Hispanic or Latino.

Regarding fragile X clinical characteristics, nine (29%) reported no learning disabilities, 12 (39%) said they had mild learning disabilities, and 10 (32%), moderate or severe learning disabilities.

The majority also had at least one co-existing condition (comorbidity), with depression in 13 (42%) and anxiety in 10 (32%). Five (16%) reported attention difficulties, and 6 (19%) had sensory processing difficulties. Three (10%) said they were autistic.

The highest level of education achieved was a high school degree for 42%, while 58% attended college — with 32% of the women graduating and 13% earning postgraduate degrees. While 14 (47%) had remained single, 11 (37%) were currently married, with four women divorced and one widowed. About half lived with family members, while the other half were living independently.

A total of nine (29%) were not employed, with nine (29%) working part-time; 13 (42%) reported full-time employment. The most common occupations for those working was in education, food service, cleaning, nonprofits, and administrative support. Other fields included health care, photography, law, government, cosmetology, and sales/retail.

Most participants (81%) did not need help with daily living activities, while six required assistance, including guidance in medical care, finances, cooking, and driving. None required help with personal hygiene, toileting, dressing, or mobility.

More than half (55%) learned they had fragile X in adulthood — most after age 30. The remaining participants were diagnosed in infancy, childhood, or adolescence.

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Participants were asked to describe how they felt about fragile X syndrome, with 21 (67%) reporting feelings of acceptance. Among them, three (10%) also had feelings of anger or fear. No respondents used positive descriptors, or said they felt empowered or motivated. When asked about negative feelings, six (20%) described feeling angry, five (16.7%) said they were fearful, three (10%) had feelings of regret, and two (6.5%) believed they were in denial.

Regarding identity, respondents submitted various answers ranging from positive feelings of relief, hope, surprise, and acceptance, to negative feelings of denial, isolation, hatred, and being different.

“At first I was very afraid of what my future would hold but after meeting with a counselor I realized there is hope for me,” said one participant with a positive perspective.

“Initially, I was genuinely surprised that I had the full mutation because I have no symptoms. I was also relieved because it means that I don’t have to be concerned with [Fragile X-associated tremor/ataxia syndrome],” responded another.

Negative perspectives included included responses such as “Was not included in social groups,” and “Could not keep up with other kids in sports, dance, clubs, etc.”

“I don’t think I am any different than anybody else, but apparently I am,” said one woman, while another said, “I know I have it but I act like I don’t know it affects me….”

Another respondent ported that she had passed along the genetic condition: “My children also have [fragile X syndrome] and I don’t like it.”

Notably, when asked to select a label for their diagnosis, only 21% of the women chose “a female with fragile X syndrome.” The majority of participants who identified as full mutation females preferred a different label, with 14% selecting an affected female, 12% an unaffected female, and 17% saying they did not like being labeled as someone with fragile X.

“Just me” and “female with a full mutation or female with Fragile X syndrome,” wrote two respondents.

The women were asked about how they felt sharing their diagnosis, and 27 responded. Among them, 23 (77%) said they were very comfortable, somewhat comfortable, or only comfortable sharing with close friends or relatives. Six said they were somewhat or very uncomfortable with sharing their diagnosis.

Participants also were asked about their level of comfort in being assessed by medical professionals, with 17 (63%) reporting they were very comfortable, and 10 (37%) saying they felt some level of discomfort. Six (22%) said they felt misunderstood by clinicians, and four (15%) felt it was important for their health, but they don’t enjoy fragile X assessments.

Regarding decision-making about reproduction, 16 (53%) said they were currently in a relationship, while 14 (47%) were not. Of those not in a relationship, 10 (72%) indicated they wished or sometimes wished they were in a relationship.

Half of the respondents had children, with 12 becoming pregnant before their diagnosis. Of the 15 participants who did not have children, six wanted children — though one said she had previously wanted children but had since changed her mind. Five said they did not want children, one thought she was incapable of having children, and two were undecided.

When asked if anyone had explained the risk of having a child with fragile X, 24 (84%) reported yes, four said no, and two were unsure. Twelve (40%) believed they could have a child without fragile X, 12 (40%) indicated they would have a child with fragile X, and 11 (37%) were unsure.

Finally, participants were asked about their feeling about having a child with fragile X. The majority (55%) said they would feel conflicted or would not want a child with the condition, while 10% said they would feel more connected with the child. Six (21%) wrote that they could not answer the question because they already had fragile X children.

A total of 20 of the women (74%) indicated they would either definitely or potentially consider in vitro fertilization (IVF) with a preimplantation genetic diagnosis to decrease the risk of having children with fragile X. Seven said they would not use this option, with four for moral reasons and one for mostly economic reasons; two preferred to adopt.

“This is the first study to explore the identity and reproductive aspects in females with Fragile X syndrome,” the authors wrote. “This study is representative of a more independent [fragile X syndrome] population with about half of participants living and operating independently.”