Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options

ABSTRACT

Background

In vitro fertilization with preimplantation genetic testing is a growing reproductive option for people who want to avoid passing a single‐gene condition on to their offspring. The spinocerebellar ataxias are a group of rare, autosomal‐dominant neurodegenerative disorders which are strong candidates for the use of this technology.

Objectives

This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia.

Methods

We administered an online survey to U.S. residents of reproductive age who have been clinically or genetically diagnosed with spinocerebellar ataxia. We assessed their understanding of inheritance and their reproductive opinions.

Results

Of 94 participants, 70.2% answered all four inheritance questions correctly. The majority felt they could describe each reproductive option except prenatal diagnosis. Individuals were most interested in in vitro fertilization with preimplantation genetic testing: 48.4% (45 of 93) said they would consider it. They were least interested in prenatal diagnosis and donated embryos or gametes. Having spinocerebellar ataxia with anticipation and choosing inheritance risk as an important factor were both significantly associated with interest in preimplantation genetic testing. Choosing religion/morality as an important factor was associated with less interest in preimplantation genetic testing and prenatal diagnosis.

Conclusions

Our population displayed basic knowledge of inheritance risk, and the majority wanted to avoid having affected children. Consistent with literature for other autosomal‐dominant adult‐onset conditions, individuals showed a preference for preimplantation genetic testing. Health care providers should continue to educate patients about reproductive options and their risks and limitations.

The spinocerebellar ataxias (SCAs) are a group of rare, autosomal dominantly inherited neurodegenerative disorders which can involve the cerebellum and other parts of the central nervous system. The average combined prevalence of all dominant hereditary cerebellar ataxias is 2.7 per 100,000 people.1 Common symptoms among people with SCAs include gait imbalance, limb ataxia, and dysarthria. SCAs are progressive and there is currently no disease‐modifying treatment available. The mean age of onset of symptoms for SCA1, SCA2, and SCA3 is in the third decade of life.2 Many SCAs, including the most common (SCA1, SCA2, SCA3, SCA6, and SCA7), are caused by DNA repeat expansions.1, 3 For some of these SCAs, these repeat expansions are unstable. Larger variations are observed when transmitted from father to offspring, but expansion can also be observed in maternal inheritance.4, 5 Larger repeats, on average, are associated with earlier onset and more severe disease. When a disease has earlier age of onset and worsens over successive generations, the pattern is called anticipation.

There are two ways to potentially reduce the impact of SCA for future generations: treatment and prevention. Current research efforts are focused on finding treatments. However, by utilizing reproductive options, individuals with SCA can prevent their future offspring from having ataxia. These reproductive strategies are available now and could reduce the personal and societal impact of SCA. In a perspective piece, Bushara6 argued that the eradication of SCA through the use of in vitro fertilization (IVF) with preimplantation genetic diagnosis (formerly known as PGD, now referred to as preimplantation genetic testing for monogenic disorders or PGT‐M) would be more cost‐efficient than researching a cure. In a different piece, Tur‐Kaspa et al.7 claimed that most people with inherited neurological disorders would opt for IVF with PGD over prenatal testing if it were offered to them. These articles have looked at SCA through a population genetics lens, primarily considering the burden of the disease. This perspective does not account for patient opinions about transmission of SCA and the utility of reproductive options. It also does not consider patient barriers which might prevent this approach from being effective, such as cost, religious beliefs, or unplanned pregnancy.

Similar studies have been performed with individuals with other single‐gene disorders. Chan et al.8 found that women with BRCA mutations were more interested in IVF with PGD than adoption, use of donor oocytes, or prenatal diagnosis (PND), and suspected that it might be attributable to desire for biological children and low acceptance of termination. Individuals with autosomal‐dominant polycystic kidney disease preferred diagnostic methods which could occur before embryo implantation.9 Couples with unspecified single‐gene disorders viewed embryo destruction, a potential step after IVF, to be more acceptable than pregnancy termination, a potential step after PND.10 However, opinions toward reproductive options may differ between these populations and individuals with progressive neurological symptoms.

Our results may apply to individuals with other adult‐onset neurological conditions with anticipation, like Huntington's disease (HD). In a qualitative study of individuals aged ≤35 years who were gene positive for HD but asymptomatic, 10 of 14 participants wanted to avoid having children who were at risk for HD.11 They were more interested in IVF with PGD than adoption or PND. This is the only study examining this question in the HD population, and it did not include symptomatic individuals. Given that we enrolled subjects with a clinical or genetic diagnosis of SCA, we saw a representation of both asymptomatic and symptomatic individuals. No studies have previously looked at the knowledge and understanding of genetic risk in individuals with SCA or their perceptions of reproductive options. This study aimed to fill this knowledge gap. This should allow SCA researchers and health care providers to understand the patient perspective when focusing their efforts and resources, informing future research, policies, and clinical practice.

Materials and Methods

An anonymous, English, SurveyMonkey survey was administered from April to December 2018 to U.S. residents between the ages of 18 and 45 who have been diagnosed with SCA by a doctor, either by a clinical or a genetic diagnosis. Participants were required to have a genetic diagnosis of SCA in their family. They were not asked to submit proof for these criteria. The Emory University Institutional Review Board (IRB) determined that the study was exempt from further review (IRB 00102223).

Recruitment

We recruited participants through several methods. The National Ataxia Foundation (NAF) posted information about this study on their Facebook page, website, and magazine. They also e‐mailed study information to their lists of health care providers and patients. The Coordination of Rare Diseases at Sanford (CoRDS) registry e‐mailed individuals with SCA within the age range. Last, individuals with SCA who have been seen at the Emory Movement Disorders Clinic were recruited through in‐person encounters or phone calls.

Individuals who were interested in this study were directed to the survey link and presented with study information. Because a waiver of documentation of consent had been granted, consent was signified when individuals proceeded to the survey. Participants were excluded if they did not meet all criteria.

Survey Instrumentation

The survey (Supporting Information File S1) had multiple‐choice and rating‐scale questions. To develop the survey instrument, we performed a literature search. Questions from similar studies were adapted whenever possible.8, 9, 12, 13, 14, 15, 16 Some questions were written by the authors based on the specific characteristics of SCAs. Questions were reviewed and edited by genetic counselors, neurologists, and genetic counseling students not associated with this study.

In the survey, we inquired about demographic information and medical history. We asked participants about childbearing, including their interest in having children in the future and 5‐point Likert scale questions about how SCA has affected this interest. We included four knowledge questions about inheritance: (1) If someone with SCA has children, would there be a chance of the children having SCA?; (2) If someone has SCA, what is the chance of each biological child having SCA?; (3) In some SCAs, is it possible for a child to be affected at a much earlier age than their parent?; and (4) If a parent does not show symptoms of SCA until after the child is born, is that child still at risk to have SCA?

We asked about the following reproductive options: adoption, donated eggs or sperm, donated embryos, prenatal diagnosis such as amniocentesis or chorionic villus sampling, in vitro fertilization with preimplantation genetic diagnosis, not having children, and naturally conceiving with no intervention. In the survey, we used the term PGD, not PGT‐M, because this was still the most widely used terminology at the time. We asked if participants felt comfortable describing each of these reproductive options to a friend (yes or no) to assess their perceived knowledge. Then, we asked if they would consider using each of these reproductive options (yes, maybe, no, or need more information), excluding use of donated eggs for male respondents and use of donated sperm for female respondents. This was followed by an informational sheet (IS) that included the methodology, timing, risks, and potential cost ranges of each reproductive option, as relevant. The IS reviewed how each option would affect the child's risk for SCA and biological relationships. We edited descriptions from Swift et al,9 when possible. After reading this information, participants were asked again if they would consider using each option (would not consider, would possibly consider, or would strongly consider) and were prompted to choose three factors that most strongly influenced their reproductive opinions from a list of seven.

Statistical Analysis

Pearson's chi‐squared test was used to assess the association of categorical factors with interest in reproductive options. If a cell included ≤5 responses, Fisher's exact test was substituted. Descriptive statistics were used for demographics, medical history, and questions about childbearing. All analyses were performed using IBM SPSS Statistics software (version 25; IBM Corp., Armonk, NY). All statistical tests were two‐sided with an alpha of 0.01 to account for multiple comparisons.

Results

Participant Characteristics

Ninety‐four individuals met eligibility criteria and completed over half of the survey (Table 1). Participants did not report recruitment source. Six patients were from Georgia, where Emory Healthcare is located. We have indicated the sample size for any questions with fewer than 94 respondents. Table 2 provides information about the medical characteristics of the respondents.

Table 1.

General participant demographics

Characteristic	Females (N = 67) n (%)	Males (N = 27) n (%)	Total (N = 94) n (%)
Age: mean (minimum‐maximum)	36.27 (21–45)	35.07 (23–44)	35.93 (21–45)
Educational level
High‐school graduate	2 (3.0)	3 (11.1)	5 (5.3)
Some college	12 (17.9)	2 (7.4)	14 (14.9)
2‐year or 4‐year college graduate	27 (40.3)	16 (59.3)	43 (45.7)
Postgraduate	24 (35.8)	4 (14.8)	28 (29.8)
Vocational training	1 (1.5)	0 (0.0)	1 (1.1)
Did not answer	1 (1.5)	2 (7.4)	3 (3.2)
Race
American Indian or Alaska Native	0 (0.0)	0 (0.0)	0 (0.0)
Asian	1 (1.5)	3 (11.1)	4 (4.3)
Black	8 (11.9)	1 (3.7)	9 (9.6)
Hispanic	3 (4.5)	0 (0.0)	3 (3.2)
Native Hawaiian or Other Pacific Islander	1 (1.5)	0 (0.0)	1 (1.1)
White	53 (79.1)	21 (77.8)	74 (78.7)
Other	0 (0.0)	0 (0.0)	0 (0.0)
Did not answer	1 (1.5)	2 (7.4)	3 (3.2)
Ethnicity
Hispanic or Latino	4 (6.0)	0 (0.0)	4 (4.3)
Not Hispanic or Latino	62 (92.5)	25 (92.6)	87 (92.5)
Did not answer	1 (1.5)	2 (7.4)	3 (3.2)
Marital status
Long‐term relationship	7 (10.4)	2 (7.4)	9 (9.6)
Married	35 (52.2)	9 (33.3)	44 (46.8)
Separated/divorced	8 (11.9)	3 (11.1)	11 (11.7)
Single	15 (22.4)	11 (40.7)	26 (27.7)
Widowed	1 (1.5)	0 (0.0)	1 (1.1)
Did not answer	1 (1.5)	2 (7.4)	3 (3.2)
Yearly household income
<$50,000	25 (37.3)	8 (29.6)	33 (35.1)
$50,000 to $100,000	19 (28.4)	6 (22.2)	25 (26.6)
>$100,000	21 (31.3)	11 (40.7)	32 (34.0)
Did not answer	2 (3.0)	2 (7.4)	4 (4.3)
Has children
Yes	37 (55.2)	11 (40.7)	48 (51.1)
No	29 (43.3)	15 (55.6)	44 (46.8)
Did not answer	1 (1.5)	1 (3.7)	2 (2.1)

Table 2.

Medical characteristics of participants

Characteristic	n (%)
Spinocerebellar ataxia (SCA) subtype
SCA2	30 (31.9)
SCA3	30 (31.9)
SCA6	9 (9.6)
SCA8	9 (9.6)
Other (SCA 1, 7, 14, 17, and 35)	16 (17.0)
Age range of SCA diagnosis
Under 15	1 (1.1)
15 to 20	9 (9.6)
21 to 25	18 (19.1)
26 to 30	27 (28.7)
31 to 35	16 (17.0)
36 to 40	15 (16.0)
41 to 45	8 (8.5)
Currently experiencing SCA symptoms (N = 93)	77 (82.8)
Age range of first symptoms (N = 81)
Under 15	7 (8.6)
15 to 20	9 (11.1)
21 to 25	24 (29.6)
26 to 30	13 (16.0)
31 to 35	15 (18.5)
36 to 40	11 (13.6)
41 to 45	2 (2.5)

Interest in Having Children

Fourteen individuals without children (14 of 44; 31.8%) and 34 individuals with children (34 of 48; 70.8%) were not interested in having children in the future. Being married or separated/divorced was significantly associated with less interest in having (more) children (P < 0.001). Eighty individuals (80 of 94; 85%) reported having at least one family member with SCA.

The majority of respondents (60 of 91; 65.9%) said that observation of a family member with SCA may affect, strongly affect, or very strongly affect their decision to have children, whereas 22.0% (20 of 91) responded that it did not affect their decision at all. Thirty‐eight of 91 (41.8%) thought that it would be extremely difficult to cope with an affected child. Fifty‐six of 91 (61.5%) viewed it to be extremely important to avoid the birth of an affected child, whereas 7.7% (7 of 91) said that it was not at all important.

Participant Knowledge

When asked inheritance risk questions, 70.2% of respondents (66 of 94) correctly answered all four. No statistically significant effect of education on number of correct responses was detected (P = 0.08). Of symptomatic individuals, 65% (50 of 77) correctly answered all four items, whereas 100% of people (16 of 16) who said that they were not or may be experiencing symptoms answered all four items correctly. Having children was significantly associated with correctly answering all four items (P = 0.007).

Interest in Reproductive Options

The majority of participants felt like they could briefly describe adoption (86 of 94; 85.1%), donated sperm (75 of 91; 82.4%), donated eggs (72 of 92; 78.3%), IVF with PGD (71 of 91; 78.0%), and donated embryos (52 of 90; 57.8%) to a friend. Only 41 of 90 respondents (45.6%) felt like they could describe PND. Before seeing the IS, respondents were asked if they would consider utilizing different reproductive options (Fig. 1). Overall, more respondents said they would consider IVF with PGD than any other reproductive option, with 48.4% responding yes (45 of 93). Participants were least interested in utilizing donated embryos: 70.3% of respondents said they would not consider it (64 of 91). When asked about PND, 20 participants of 88 (22.7%) said that they needed more information to decide if they would utilize it. For each of the other reproductive options, <10% of participants said they needed more information.

Figure 1.

Perceptions of reproductive options before receiving a reproductive option informational sheet. Sixty‐seven women were asked about donor eggs, and 27 men were asked about donor sperm.

After receiving the IS, respondents were asked again if they would consider these options (Fig. 2). More respondents said they would strongly consider IVF with PGD (37 of 93; 39.8%) than any other reproductive option. Participants were still least interested in using donated embryos: 79.8% of respondents (75 of 94) said they would not consider it. Of 66 females, 49 (74.2%) said they would not consider using donated eggs, and 63.0% of males (17 of 27) said they would not consider using donated sperm.

Figure 2.

Perceptions of reproductive options after receiving a reproductive option informational sheet; N = 94, unless otherwise stated. Sixty‐seven women were asked about donor eggs, and 27 men were asked about donor sperm.

Factors Influencing Opinions Toward Reproductive Options

Given that evaluating the informational sheet was not the primary purpose of our study, pre‐IS results were used to evaluate factors influencing opinions toward reproductive options. Increased perceived importance of avoiding the birth of an affected child was associated with interest in IVF with PGD (Fisher's, P < 0.001). There was no statistically significant association between any other reproductive options and avoiding the birth of an affected child (P > 0.01). Individuals who reported that that their decision to have children was not at all affected by observation of a family member with SCA were more interested in natural conception with no intervention than people who reported that their decision was somewhat to very strongly affected by observation of family (P = 0.005).

Individuals who said they were not interested in having children in the future did not have significantly different feelings toward any reproductive options than individuals who said they were interested or unsure (P > 0.01). When asked to choose the three factors that most strongly influenced their opinion toward a reproductive option, the three most common answers for both males and females were the risk of a child inheriting SCA, cost, and risk of procedure to the mother or child's health (Fig. 3). Choosing inheritance risk as an important factor was significantly associated with interest in IVF with PGD (P < 0.001) and adoption (P = 0.01). Viewing cost or risk of procedure as an important factor was not significantly associated with reproductive option interest (P > 0.01).

Figure 3.

Factors identified as most strongly influencing opinions toward reproductive options. N = 94; each participant could pick up to three factors.

Individuals who have SCA that demonstrates anticipation (SCA1, SCA2, SCA3, SCA7, and SCA17) were more likely to be interested in IVF with PGD than individuals who have SCA without anticipation (SCA6, SCA8, SCA14, and SCA35; P = 0.009). Onset of SCA symptoms before age 25 was significantly associated with greater interest in not having children (P = 0.01). Individuals with symptom onset before age 25 were more likely to say they might consider IVF with PGD or needed more information about it (P = 0.007). Whether or not someone was symptomatic, as well as their age when diagnosed with SCA, were both not significantly associated with any reproductive opinions (P > 0.01). Males were less likely to consider natural conception with no intervention (P = 0.007) than women, but sex was not significantly associated with interest in other options. Marital status did not significantly affect opinions (P > 0.01).

A total of 61.3% of respondents said that religion had no influence on their overall decision making (57 of 93). Reported influence of religion was not significantly associated with interest in any reproductive option (P > 0.05). However, viewing religion or morality to be an important factor was significantly associated with less interest in IVF with PGD (P = 0.002) and PND (P = 0.006).

Discussion

This study has shown that the majority of participants understand basic information about the inheritance of SCA and are primarily concerned about the risk of passing SCA on to their children. This concern influences their attitudes toward reproductive options: The majority considered inheritance of SCA to be a key factor in reproductive decision making, and this consideration was significantly associated with interest in IVF with PGD and adoption. Having an SCA with anticipation also influenced interest in IVF with PGD. This is likely attributable to concern that their child could inherit an expanded mutation that would cause earlier and more severe disease. People also viewed cost and procedural risks to be major factors in their reproductive decisions. However, choosing these as key factors was not significantly associated with any reproductive option interests. This suggests that participants may be more influenced to choose an option based on the reduced risk of inheritance of SCA, rather than high cost or risk of a procedure. However, 50% of respondents said that they may consider natural conception with no intervention, meaning that there are still other factors in their decision making. For example, individuals who did not feel like their childbearing decisions were affected by observation of family members with SCA were more interested in natural conception. This may be because they had not had the experience of taking care of family members with severe symptoms of SCA.

More respondents said that they would consider IVF with PGD than any other reproductive option. The majority of respondents also said that they may consider adoption and not having children. But, our respondents’ hypothetical interest in IVF with PGD may not translate to uptake of preimplantation testing. Individuals who were gene positive for HD have been surveyed about which reproductive options they used after predictive testing, and the uptake of prenatal diagnosis, IVF with PGD, and other reproductive options that reduce the chances of having a child with HD has been low.17, 18, 19, 20, 21 However, many of these studies were performed over 10 years ago. Since then, IVF with PGD technology has improved, and the overall utilization of PGD has increased.22

Individuals’ main motivations for doing predictive testing for HD include relieving uncertainty, family planning, and generally planning for the future.23 Eighty‐two percent of our population reported that they were experiencing symptoms of SCA, and 56.4% reported symptom onset by age 30. This suggests that many of them were or are making their reproductive decisions while symptomatic. This reflects a major difference between our population and these HD studies, which have focused on individuals who are gene positive but asymptomatic. Among individuals who were symptomatic, those with symptom onset before 25 had more interest in not having children but more uncertainty about IVF with PGD. Given that the majority of our population have experience living with the disease, this could be affecting not only their hypothetical opinions about reproductive options, but also the likelihood that they will pursue these options. Unfortunately, the current utilization of PGT‐M for SCAs has not been measured in the United States. The European Society of Human Reproduction and Embryology PGT Consortium reported that a total of 60 people pursued PGT for SCAs from 2003 (across 50 centers) to 2010 (62 centers), with more recent data not published.24, 25, 26, 27, 28, 29, 30, 31

Our population was not very interested in PND or donated embryos or gametes. In other populations with adult‐onset autosomal‐dominant disorders, individuals have preferred preimplantation diagnostic methods over PND, which may require individuals to make a decision about pregnancy termination.8, 9, 10, 11 We did not specifically ask individuals about their opinions toward pregnancy termination. The majority of this study population felt that religion did not have any impact on their decision making; however, the people who chose “religion or morality” as an important factor were significantly less interested in PND and IVF with PGD. This factor may have been interpreted to include ethical dilemmas involved with abortion or discarded embryos. Disinterest could also be attributable to a perception that PND has a high risk for complications leading to miscarriage: Almost half of respondents viewed the risk of the procedure to be an important factor. In reality, pregnancy loss within 14 days is 0.6% following an amniocentesis and 0.7% for chorionic villus sampling.32 Finally, a lack of familiarity with PND could also be impacting their interest: Less than half of respondents felt like they could describe PND. This could be because individuals are not adequately counseled about PND, or it could be because of a lack of familiarity with any of the terms used: prenatal diagnosis, amniocentesis, or chorionic villus sampling.

Individuals were least interested in donated embryos or gametes. However, the majority of participants did not identify a biological relationship as an important factor in their decision making. Most were willing to consider both adoption, which would not allow for a biological relationship, and IVF with PGD, which would involve the same embryo transfer procedure. A hesitation toward utilizing donated embryos may show a lack of familiarity or understanding of the process, though 55% thought they could describe this option. This also emphasizes the complexity of reproductive decision making, likely involving the intersection of many of these factors.

Clinicians should ensure that their patients are provided with information about the risks, benefits, and limitations of all reproductive options to facilitate informed decision making. This educational responsibility should not rest solely on neurologists; referrals to other providers, like reproductive endocrinologists and genetic counselors, should also be encouraged. The results of our study reveal the need for future psychosocial research about individuals with SCA. Qualitative research about reproductive choices would allow us to understand the motivations behind these opinions. Future studies could also formally assess the impact of an educational intervention on reproductive opinions of individuals with SCA.

Study Strengths and Limitations

This is the first study assessing knowledge and opinions toward reproductive options in individuals with SCA. We believe that this can provide valuable guidance for health care providers who work with individuals with SCA, helping them to understand trends in this population as well as factors that may be involved in their decision making, like anticipation, importance of avoiding having a child with SCA, and their religious or moral values. By collecting responses before and after the information sheet, we accounted for the fact that an IS cannot be truly value‐free. The responses before the IS better reflect the knowledge and opinions of the wider SCA community, whereas the responses after the IS emphasize the potential benefit of an educational intervention. Having different scales pre‐IS and post‐IS prevented the ability to statistically compare preferences, but assessing IS efficacy was not a primary purpose of the survey.

Given that this was a quantitative study, we cannot determine the reasons why people chose their answers. Within the survey, some respondents chose not to disclose their preferences for all reproductive options. We are unable to tell whether that is because of disinterest in those options or an external factor. Although we used survey questions from other studies when possible, our survey was not validated. There are other potential factors that we did not assess in this survey. We did not assess patient access or patient perceptions of access to reproductive options. Asking questions about their health care providers, including who their providers were, if they sought care at an academic center, and if they ever had genetic counseling, could have allowed us to learn more about our population and determine whether there were shared providers among study participants. Our study design also did not allow us to detect whether any study participants were related. Additionally, some factors that we assessed did not show a statistically significant effect on reproductive opinions, which may have changed with a larger response rate. However, when comparing how interest was affected by factors like inheritance knowledge or being symptomatic, there were no trends toward significance (P > 0.1), so it is unlikely that more respondents would have greatly influenced these results.

By limiting the inclusion criteria to individuals ages 18 to 45, we hoped to capture individuals who were currently considering their reproductive options. However, approximately half of participants stated that they were finished having children. We did not ask participants what reproductive options they had utilized for previous pregnancies. Participants may have expressed hypothetical interest in options that they had not used for their own pregnancies.

Our recruitment strategy likely resulted in ascertainment bias. People who actively engage with non‐profit organizations like NAF and CoRDS could be more information seeking and thus more knowledgeable about inheritance and reproductive options in comparison to people who are not involved in these organizations. The population was 71.3% female (67 of 94), which was slightly higher than expected. The majority of participants were also white (78.7%; 74 of 94), which is generally representative of the U.S. population. However, demographics specifically for individuals with SCA are unknown, so the results may not be generalizable to all individuals with SCA. Additionally, we cannot determine a true response rate, given that the survey was distributed through public websites.

Author Roles

(1) Research project: A. Conception, B. Organization, C. Execution; (2) Statistical Analysis: A. Design, B. Execution, C. Review and Critique; (3) Manuscript: A. Writing of the First Draft, B. Review and Critique.

S.C.: 1A, 1B, 1C, 2A, 2B, 3A

A.R.: 1A, 1B, 2A, 2C, 3B

G.W.: 1A, 1B, 2A, 2C, 3B

Disclosures

Ethical Compliance Statement

The authors confirm that Emory University's Institutional Review Board (IRB) reviewed this study, and it received exemption (IRB 00102223). A waiver of documentation of consent was granted by the IRB. So, participants were presented with an information sheet about the study, and consent was signified when individuals proceeded to the survey. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

Funding Sources and Conflicts of Interest

The authors report no sources of funding and no conflicts of interest.

Financial Disclosures for previous 12 months

Ami Rosen reports salary support from: NICHD (HHSN275201500001I), Amgen, Amicus, Biomarin, Genzyme, A Sanofi Company, Protalix, Sangamo, Shire, and Huntington's Disease Society of America. George Wilmot serves as a consultant for Biohaven Pharmaceuticals and on the advisory board for Santhera Pharmaceuticals; he also reports grants from the National Ataxia Foundation, Friedreich Ataxia Research Alliance, and NIH (1U01NS104326‐01).

Supporting information

File S1. Survey questions given to participants.