Health-Related Quality of Life and Psychosocial Characteristics of Patients With Benign Essential Blepharospasm

Objective  To examine vision-targeted health-related quality of life and psychosocial characteristics in patients with benign essential blepharospasm (BEB) compared with patients with hemifacial spasm (HFS).

Methods  Persons with BEB (n = 159) or HFS (n = 91) were identified based on International Classification of Diseases, Ninth Revision, Clinical Modifications codes with subsequent verification by record abstraction. Information regarding demographics, health characteristics, disease characteristics, and vision-targeted health-related quality of life was obtained through a telephone interview.

Results  For patients with BEB and HFS, the composite scores and subscale scores on the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) were low. Compared with patients with HFS, patients with BEB reported more depressive symptoms (P = .03), met the criteria for generalized anxiety disorder (P = .007), had lower NEI-VFQ-25 composite scores (P<.001), and had lower NEI-VFQ-25 subscale scores regarding general vision (P = .03), ocular pain (P<.001), distance activities (P = .001), driving (P<.001), and all of the vision-specific subscales addressing psychosocial issues.

Conclusions  Compared with patients with HFS, those with BEB experience a greater reduction in vision-targeted health-related quality of life and are more prone to symptoms of depression and anxiety. This underscores the inadequacy of current treatment options for BEB in light of the fact that these patients had been undergoing standard-of-care treatments for some time.

Benign essential blepharospasm (BEB) is an idiopathic disorder characterized by bilateral involuntary eyelid spasms that interfere with visual function and cause ocular discomfort.^1-3 Classified as a focal dystonia, BEB insidiously strikes during the fifth or sixth decade of life and usually progresses to maximal severity in 3 years. Botulinum toxin type A (BTX-A) injection therapy controls or minimizes eyelid spasm in more than 90% of patients⁴ but only on a temporary basis, with treatment effectiveness typically dissipating in 8 to 16 weeks, at which time repeat treatment is necessary. Functional blindness and activity limitations owing to the eyelid spasms, the physical appearance this chronic disorder engenders, and other disease symptoms (eg, dry eye) undoubtedly contribute to a lowered health-related quality of life (HRQOL) and psychosocial challenges for persons with BEB.^5-7 However, the previous research addressing HRQOL and BEB has had methodological limitations such as relying on questionnaire instruments whose psychometric properties are unknown,⁷ use of patient samples that included persons with other types of dystonia,⁶ no reference groups for comparison,⁵ and failure to focus on vision-targeted HRQOL domains.⁶

Previous studies^6,8,9 have also described associations between BEB and psychological problems, including depression and obsessive-compulsive disorder. However, 2 studies^9,10 have described an absence or low rate of psychological disorders, and several of the previous studies citing associations did so without comparison with a control group. Thus, the extent to which psychological problems exist at higher rates in persons with BEB as compared with those without BEB is unknown.

Here we describe the results of a cross-sectional survey that examined vision-specific HRQOL and the presence of depressive and anxiety symptoms in a large sample of persons with BEB (n = 159). We make use of a comparison group of persons with hemifacial spasm (HFS), a disease that causes tonic-clonic contractions of the orbicularis oculi muscle as well as ipsilateral facial musculature on one half of the face. Hemifacial spasm almost always has a known cause, which is most often a result of vascular compression of the facial nerve in the posterior fossa. In contrast, the cause(s) of BEB remains unknown. The use of patients with HFS as a reference group to study HRQOL and psychosocial factors in BEB provides an interesting comparison group given the overlapping clinical profile of these 2 movement disorders with dissimilar underlying etiology.

Subjects with primary blepharospasm or HFS were selected from the University of Alabama at Birmingham Department of Ophthalmology Clinic located at the Callahan Eye Foundation Hospital, Birmingham, and the Vision Partners Clinic, Mobile, Ala. Initially, subjects were identified on the basis of the International Classification of Diseases, Ninth Revision, Clinical Modifications codes 333.81, 333.82, and 333.83 (blepharospasm, orofacial dyskinesia, and spasmodic torticollis, respectively). The identified patients’ records were subsequently abstracted to confirm the diagnosis of BEB or HFS and to record the number of clinic visits during the study period, the dosage of BTX-A received for treatment, and the number of injections received. In addition to having 1 of these diagnoses, subjects had to be at least 19 years of age.

The Institutional Review Board for Human Use at the University of Alabama at Birmingham approved the study protocol. The study followed the tenets of the Declaration of Helsinki, and informed consent was obtained from the subjects after explanation of the nature and possible consequences of the study.

A telephone survey was designed to collect information. Demographic characteristics were collected with questions regarding age, sex, race, education, marital status, and employment status. Health-related quality of life was assessed using the 25-item National Eye Institute Visual Function Questionnaire¹¹ (NEI-VFQ-25). Items that used the phrase “because of your eyesight” were reworded to “because of your BEB/HFS” (depending on which condition they had). This change was based on pilot testing of the original NEI-VFQ-25 with patients with BEB who would often comment on these items, “Do you mean because of my blepharospasm? My eyesight itself is fine.” Scoring of subscales was carried out per standard procedures; for each subscale, scores could theoretically range from 0 to 100, with lower scores indicating more disability.

Life satisfaction was estimated with the Life Satisfaction Index–Z.¹² Scores between 0 and 12 indicate low life satisfaction; 13 to 21, moderate life satisfaction; and 22 or greater, high life satisfaction. Depressive symptoms were determined using the Center of Epidemiologic Studies Depression Scale,¹³ with higher scores indicating more symptoms of depression. The presence of generalized anxiety disorder^14,15 was assessed by asking about the presence of anxiety symptoms; generalized anxiety disorder was defined as 4 or more symptoms as per the diagnostic criteria set forth by the Diagnostic and Statistical Manual of Mental Health, 4th Edition.¹⁶ In addition to information obtained through record abstraction as defined earlier, BEB or HFS characteristics were collected through survey questions regarding the duration of symptoms, the duration of physician diagnosis, and the types of treatments received. Cognitive status was assessed using the Short Portable Mental Status Questionnaire,¹⁷ modified for telephone administration¹⁸ and scored as the number of errors out of 10 items. The number of comorbid medical conditions by self-report was estimated by a general health questionnaire used extensively in our previous work.^19,20

Comparison between all of the variables described earlier for BEB vs HFS was carried out using t tests and χ² tests for continuous and categorical variables, respectively. Associations between NEI-VFQ-25 subscales and variables addressing disease duration and treatment frequency were evaluated by Pearson correlation coefficients. P values of .05 or less (2-sided) were considered statistically significant.

Of the 347 persons initially identified by International Classification of Diseases, Ninth Revision, Clinical Modifications codes to be eligible, 97 were not enrolled (62 with BEB and 35 with HFS). The reasons for exclusion of the 97 subjects are as follows: 36 could not be contacted by telephone, 27 refused to participate, 13 were deceased, 4 were in a confused state and could not comprehend the purpose of the call, 5 were too ill to participate, 4 had been surgically cured of HFS, 3 could not communicate by telephone because of hearing impairment, 2 requested to be contacted later but thereafter were unreachable, 1 terminated the interview without finishing because of health problems, 1 felt that the interview was too long and withdrew from the study, and 1 had poor English-language skills such that responses could not be understood. Ultimately, 159 patients with BEB and 91 patients with HFS were enrolled in the study, all of them having completed telephone interviews and record abstractions.

Table 1 compares the demographic and health characteristics of the study subjects. The average age for patients with BEB and patients with HFS was similar, at approximately 66 years. Women composed the majority of participants in both groups, as did white subjects. Marital status was also similar in the 2 groups, with almost two thirds of them married. The majority of subjects in both groups were retired, with about one third employed, and unemployment was rare or absent. Twice as many subjects with BEB reported that they were disabled. Regarding health characteristics, patients with BEB had more depressive symptoms (P = .03) and were more likely to meet the criteria for generalized anxiety disorder (P = .007) than were patients with HFS. Cognitive status as measured by the Short Portable Mental Status Questionnaire was excellent among both groups.

Table 2 demonstrates the disease characteristics and HRQOL for the study subjects. The duration of disease in years according to self-reported symptoms and physician diagnosis did not differ between patients with BEB or those with HFS. Moreover, the frequency of clinic visits for BTX-A treatments was similar between the groups. However, patients with BEB reported ever having used oral medications (P = .001), eyedrop medications (P<.001), and surgical procedures (P = .002) more often than the patients with HFS. In contrast, there was no group difference in the percentage of subjects ever having been treated with BTX-A therapy (P = .19). Regarding the HRQOL variables, the NEI-VFQ-25 composite score was significantly lower among patients with BEB as compared with patients with HFS (P<.001). The NEI-VFQ-25 subscale scores were rather low for the most part, averaging in the 50s to 80s. Comparing patients with BEB with those with HFS, those with BEB had worse scores on the following subscales: general vision (P = .03), ocular pain (P<.001), distance activities (P = .001), and driving (P<.001), as well as all of the vision-specific subscales addressing psychosocial issues: social functioning (P = .001), mental health (P = .002), role difficulties (P<.001), and dependency (P = .001). The Life Satisfaction Index–Z scores did not differ between the groups (P = .15), with both showing moderate life satisfaction.

There were no associations between any of the NEI-VFQ-25 subscales and the disease duration variables, or between the VFQ subscales and frequency of treatments (all P>.10). This was the case when the BEB and HSF groups were analyzed separately as well as when combined.

This study clearly demonstrates that persons with BEB experience a reduction in vision-targeted HRQOL as indicated by 11 of 12 NEI-VFQ-25 subscale scores averaging in the 50s to 80s. Ocular pain was a particularly problematic domain, with an average score of 67. The psychosocial burden of this disease is noteworthy, with the vision-specific subscale scores of mental health, role difficulties, and dependency having among the lowest averages (58, 55, and 68, respectively). However, scores on the subscales addressing visual task difficulty, such as driving and near and distance vision tasks, were also relatively low (in the 70s), underscoring that everyday performance abilities from the patient’s perspective are also compromised in BEB. To provide some perspective on the scores of persons with BEB, it is instructive to point out that their scores are quite comparable to NEI-VFQ-25 subscale scores from persons with the major chronic eye diseases of aging (diabetic retinopathy, age-related maculopathy, glaucoma, and cataract).¹¹ This observation highlights the disabling ramifications of BEB that may be overlooked or misunderstood since persons with BEB have normal vision. Consistent with these reduced HRQOL findings, this study also found that persons with BEB reported more depressive and anxiety symptomatology than did those with HFS.

Although the physical symptoms of HFS are similar to those of BEB, it is interesting that vision-targeted HRQOL is decreased in BEB relative to HFS, particularly in the psychosocial subscales, ocular pain, distance activities, and driving. In addition, depressive and anxiety symptoms are increased in BEB as compared with HFS. The personal burden of the eyelid spasms, their attendant pain and discomfort, and the social problems they engender appear to be more pronounced in BEB than in HFS. A simple explanation may be that unilateral symptoms (as in HFS) may be better tolerated than bilateral symptoms (as in BEB). Other factors may be at play as well. There has been discussion in the literature over the years that certain psychiatric conditions may be involved in the etiology of BEB,^6-10 which may not only contribute to the development of BEB but could also weaken one’s ability to cope with the condition. However, psychiatric causes for BEB have never been scientifically proven.

This study focused on a sample of persons with BEB who were in treatment under the care of a neuro-ophthalmologist, with the vast majority of subjects receiving BTX-A, which is the first-line standard-of-care treatment in BEB management. The literature is clear on the effectiveness of BTX-A in minimizing or eliminating the involuntary eye closures on a temporary basis. However, BEB is a chronic disorder and the symptoms return, giving the patient in treatment an unremitting and life-long cycle of relief and impending aggravation. Against this backdrop, symptoms of depression, anxiety, and reduced quality of life are not surprising. The heavy personal burden of BEB among persons receiving the current standard of care as documented here underscores the need to understand the etiology of this condition so that more effective treatments can be developed.

Correspondence: Gerald McGwin, Jr, MS, PhD, Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, 700 S 18th St, Suite 609, Birmingham, AL 35294-0009 (mcgwin@uab.edu).

Submitted for Publication: January 4, 2005; final revision received March 9, 2005; accepted March 11, 2005.

Financial Disclosure: None.

Funding/Support: This research was supported by Research to Prevent Blindness, Inc, New York, NY, and by the EyeSight Foundation of Alabama, Birmingham. Dr Owsley is a Research to Prevent Blindness Senior Scientific Investigator.