Better Info Access May Boost Life Quality for Men with Premutations

Better access to information about fragile X-associated ataxia/tremor syndrome (FXTAS) could help improve the quality of life for men carrying fragile X syndrome premutations, according to the results of a small survey.

The study, “Men with an FMR1 premutation and their health education needs,” was published in the Journal of Genetic Counseling.

Fragile X syndrome occurs when people carry more than 200 repeats of three DNA “letters,” or nucleotides, in their FMR1 gene. Those carrying between approximately 55 and 200 repeats do not typically develop fragile X but are at risk for related disorders, such as fragile X-associated primary ovarian insufficiency and FXTAS.

FXTAS is a late-onset neurodegenerative disorder that affects men more than women. Among premutation carriers, about 40%–75% of men develop this disorder, with the chances of having it also increasing with age: approximately 17% of men carrying the premutation will develop symptoms after the age of 60, increasing to roughly 75% after age 80.

Symptoms can vary widely between individuals and often appear similar to better-known disorders such as Parkinson’s, making diagnosis challenging and resulting in many medical needs going unmet.

Among these unmet needs is quality health education. One past study identified a desire for, and barriers to, such education among female premutation carriers but no such study had been done previously for male carriers.

In the new study, researchers from Emory University and Duke University conducted in-depth patient interviews to better understand these individuals’ health information needs.

The 10 men interviewed carried a permutation, were an average age of 69 years, and half had a clinical FXTAS diagnosis.

Five major themes emerged from the interviews: diagnosis experience, sources of health information, desired health information, barriers to obtaining health information, and things that made obtaining the desired information easier.

Most participants received their diagnosis after a family member had been diagnosed with fragile X. The interviewees expressed a range of emotions upon diagnosis, including guilt (in terms of passing on fragile X to a grandchild or passing a premutation to their daughters), vindication (for confirming a suspicion that something was wrong), and neutral feelings.

The men’s health information came from a wide variety of sources. These included the internet, family members, doctors, experts in the field, and their participation in research. Four participants actively sought out information by participating in studies and reading research papers, while the others were open to receiving information but did not actively pursue it.

All volunteers expressed a desire for more information related to their premutations and associated risks. This included patterns of inheritance, symptoms, the risk of falling ill, and how to slow disease progression, should symptoms develop. Age of onset, severity, and how FXTAS progresses drew particular interest.

Despite this, the men expressed a range of opinions about how much they wanted to know about these topics. While some felt that all information was useful, others expressed wariness about knowing too much, preferring to avoid information that might not directly relate to them.

Not knowing the symptoms of FXTAS caused confusion in some participants. One man, for instance, had viewed his longstanding hand tremor as normal, unaware that not everyone experiences similar tremors.

The researchers identified four main barriers to health information: a lack of personal knowledge, a lack of knowledge among healthcare providers, negative past experiences with healthcare providers, and uncertainty about their futures with premutations — personally and with respect to uncertainty within the scientific community.

Many interviewees knew nothing about fragile X, FMR1 premutations, or FXTRAS prior to a family member’s diagnosis. Several remained unaware of potential health risks after discovering their premutation.

Six respondents described negative experiences with healthcare providers, such as a perceived lack of interest in fragile X-associated disorders. One man described trouble forming a relationship with a provider, whose patient load made him feel treated like “cattle.”

On the other hand, positive experiences with providers, opportunities to participate in research, access to experts in the field, and good family dynamics all helped patients to access information.

“As premutation-associated disorders are more frequent than fragile X syndrome, care needs to be taken to ensure that health information is provided to at-risk individuals,” the researchers wrote, suggesting that those at risk for FMR1 premutations receive genetic counseling.

They also recommended that men with premutations receive professional help to manage the psychological and social issues surrounding their diagnosis.

“Addressing the educational needs of men with/at-risk for FXTAS,” the researchers concluded, “could improve the quality of life of men who carry a fragile X premutation.”