Excessive daytime sleepiness in idiopathic blepharospasm.

OBJECTIVE: To explore the frequency of excessive daytime sleepiness (EDS), and its impact on quality of life and its associated clinical factors in idiopathic blepharospasm. METHODS: This cross-sectional study was carried out in 425 idiopathic blepharospasm patients and a group of 424 age-matched and sex-matched healthy subjects. EDS was assessed with the Epworth Sleepiness Scale (ESS) in all subjects. Other clinical characteristics of patients with idiopathic blepharospasm including motor symptoms, sleep quality, depression, anxiety, cognition, and quality of life were also assessed. RESULTS: EDS was significantly more frequent in patients with idiopathic blepharospasm than in controls (22.1% vs 12.3%; p < 0.05). Blepharospasm patients with EDS scored significantly higher in Jankovic Rating scale, Hamilton Rating Scale for Depression (HDRS), Hamilton Rating Scale for Anxiety (HARS), and significantly lower in Montreal Cognitive Assessment (MoCA) and 36-Item Short Form Health Survey (SF-36) than those without EDS (p < 0.05). The binary logistic regression model indicated that male, younger age of onset of blepharospasm, higher motor scores, higher HDRS scores, and lower MoCA scores were associated with the presence of EDS in patients with blepharospasm (p < 0.05). CONCLUSIONS: Recognition and management of EDS in idiopathic blepharospasm patients is necessary as the occurrence of EDS was associated with higher motor burden, more serious mood and cognitive disturbances, and poorer quality of life. Our results suggest that blepharospasm may exhibit abnormal sleep-wake patterns and further support the clinical heterogeneity of the disease.

Suicidal ideation, hopelessness, and affective temperament in patients with blepharospasm.

OBJECTIVE: The aim of this study was to investigate the relationship between suicidal ideation and neurological, psychological, and psychiatric features in patients with blepharospasm (BSP). METHODS: We enrolled 70 BSP patients and 80 control subjects. All participants underwent a psychiatric and psychometric evaluation: Structured Clinical Interview, Clinical Global Impression, Hamilton Anxiety Rating Scale, Hamilton Depression Rating Scale, Columbia-Suicide Severity Rating Scale, Beck Hopelessness Scale, Temperament Evaluation of Memphis, Pisa, San Diego Auto-questionnaire. BSP severity was assessed using the Blepharospasm Severity Rating Scale. RESULTS: Suicidal ideation was reported in 18% of BSP patients and 6% had current suicidal ideation. 83% of BSP patients had severe hopelessness. BSP patients presented an increased sense of hopelessness (OR= 1.39, 95% CI = 1.13/1.70) and a pronounced depressive temperament (OR= 1.36, 95% CI = 1.12/1.65). Suicidal ideation in BSP patients correlated with psychiatric disorders (OR = 3.96, 95% CI = 1.23/12.74) and higher scores on the HAM-A (OR = 1.11, 95% CI = 1.02/1.20), HAM-D (OR = 1.18, 95% CI = 1.05/1.32), CGI (OR = 1.85, 95% CI = 1.18/2.90), TEMPS-A Cyclothymia (OR = 1.16, 95% CI = 1.02/1.31). CONCLUSION: Our findings suggest the presence of suicidal ideation and severe hopelessness in BSP patients.KEY POINTSBSP patients as compared to controls more frequently reported the presence of a psychiatric disorder and more severe anxiety and depressive symptoms, psychopathology on the CGI, suicidal ideation, and hopelessness.BSP patients with prevalent cyclothymic temperament had more severe suicidal ideation, suggesting an increased suicide risk most likely due to difficulties in psychological adaptation to changing environments, including the neurological disease.A psychiatric assessment is recommended for patients with this condition, with possible referral to a suicide prevention centre.

Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis.

The aim of this study is to explore the existence of specific personality traits related to patients with blepharospasm (BSP), treated with injections of botulinum neurotoxin (BTX). Sixteen patients with BSP, 22 with facial hemispasm (HFS), 20 with essential hyperhidrosis (EH) and 20 healthy controls (HCs) completed the Temperament and Character Inventory-Revised to explore personality traits based on Cloninger's Psychobiological Model. The results revealed that the four groups differed on the Harm Avoidance (HA) scale and fear of uncertainty subscale, as well as on Persistence (PS). On HA, BSP group did not differ from HCs, but had higher scores than HFS and EH groups. On PS scales, BSP and HFS patients did not differ between them but showed higher score than HCs and EH patients. Our findings suggested that a high level of Harm Avoidance and Persistence seem to be associated with BSP, when compared with any disorders treated with BTX. An evaluation of the personality traits might help the clinicians to early identify BSP patients at greater risk of developing psychopathological disturbances.

Personality profile of the primary blepharospasm (BSP): An investigation using the Minnesota Multiphasic Personality Inventory.

OBJECTIVE: To explore whether patients with blepharospasm (BSP) have abnormal personality traits by the Minnesota Multiphasic Personality Inventory (MMPI) questionnaire. METHOD: The personality profiles of patients with BSP and its relationship with clinical characteristics were assessed in this research. 46 patients with BSP and 33 age-and-gender matched healthy controls were assessed using the MMPI questionnaire. The scores of three validity scales and ten clinical scales were calculated and compared. Then the relationship between those scales and clinical characteristics of patients with BSP was analyzed in the BSP group. RESULTS: It was found that patients with BSP scored significantly higher than healthy controls on the D, Hy, Pt clinical scales. The peak values of profiles were Hy, D, Hs scale scores. However, there was no statistical relationship between the clinical scales of MMPI and the clinical characteristics of BSP after Bonferroni Correction. CONCLUSION: The findings indicated that MMPI could be a useful psychometric tool to characterize a specific pattern of the personality of BSP patients and BSP patients may have avoidant and somatization personality characteristics.

The Prevalence and Correlation of Non-motor Symptoms in Adult Patients with Idiopathic Focal or Segmental Dystonia.

Background: Idiopathic focal dystonia is a motor syndrome associated with dysfunction of basal ganglia circuits. Observations have suggested that many other non-motor symptoms may also be part of the clinical picture. The aim was to assess the prevalence and correlation of non-motor symptoms in patients with common idiopathic focal or segmental dystonia. Methods: In a single-center cross-sectional case-control study, we evaluated the presence of pain, neuropsychiatric symptoms, and sleep alterations in 28 patients with blepharospasm, 28 patients with cervical dystonia, 24 patients with writer's cramp, and 80 control subjects matched for sex, age, and schooling. We obtained clinical and demographic data, and evaluated patients using the Fahn-Marsden Dystonia Rating Scale and other specific scales for dystonia. All subjects completed the following questionnaires: Beck Depression Inventory, Beck Anxiety Inventory, Social Phobia Inventory, Apathy Scale, Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, Brief Pain Scale, and the World Health Organization Quality of Life brief scale. Results: The patients presented more symptoms of depression, anxiety, and apathy than the control subjects. They also reported worse quality of sleep and more pain complaints. Patients with blepharospasm were the most symptomatic subgroup. The patients had worse quality of life, and the presence of pain and symptoms of apathy and depression were the main influences for these findings, but not the severity of motor symptoms. Discussion: Patients with dystonia, especially those with blepharospasm, showed higher prevalence of symptoms of depression, anxiety, apathy, worse quality of sleep, and pain. These symptoms had a negative impact on their quality of life.

Photophobia in primary headaches, in essential blepharospasm and in major depression.

OBJECTIVES: Although photophobia is a well-known symptom in various disorders, it has rarely been studied explicitly and its definition in a clinical setting can be somewhat elusive. Here, we assessed photophobia with a common psychometric tool in different conditions, in which light intolerance is considered part of the syndrome. PATIENTS AND METHODS: A prospective study was undertaken in patients with migraine (MH), cluster headache (CH), tension-type headache (TH), essential blepharospasm (BS) and major depression (MD). Photophobia was assessed by the photophobia questionnaire (range 0-8). Symptom severity was measured in each patient group with appropriate scales. Finally, depression was assessed explicitly in each condition. RESULTS: Hundred and six subjects met the inclusion criteria (MH: 27, CH: 21, TH: 20, BS: 18, MD: 20). Photophobia scores differed between patient groups, with migraineurs showing the highest (6.63) and TH patients the lowest (2.10) scores (ranking: MH, BS, CH, MD and TH). Symptom severity as well as depression had little, if any, influence on the degree of photophobia. DISCUSSION: Photophobia is a core symptom of migraine but also constitutes a feature of other neurological conditions. The relative independence from other, disease-specific features, suggests that photophobia is a rather autonomous symptom.

Meta-analytical and electrophysiological evidence for executive dysfunction in primary dystonia.

Impaired motor control in primary dystonia has been linked to cortico-basal ganglia alterations that may also give rise to changes in executive functioning. However, no conclusive evidence for executive dysfunction in patients with primary dystonia has been reported yet. We conducted a meta-analysis of the relationship between primary dystonia and performance on the Wisconsin Card Sorting Test (WCST), an established test of executive functioning. Its results revealed a significant effect of medium size, indicating that primary dystonia is associated with moderate performance deficits on the WCST. Building on this finding, we conducted an event-related potential (ERP) study to elucidate the cognitive and neural mechanisms underlying executive dysfunction in primary dystonia. Eighteen patients with blepharospasm, a common form of primary focal dystonia, and 34 healthy matched controls completed a computerized version of the WCST. We specifically compared indicators of two distinct components of executive functioning: set shifting and rule inference. On a behavioral level, blepharospasm patients seemed to have particular difficulty integrating information to infer the correct task rule. In addition, P3a amplitude (as an electrophysiological marker of rule-inference processes) was selectively attenuated in blepharospasm patients. Executive dysfunction in blepharospasm can thus rather be attributed to a rule-inference deficit, whereas set-shifting abilities appear to be relatively unaffected by the disease. Moreover, P3a amplitude attenuation was related to disease duration, indicating that this ERP might serve as a neural indicator of disease progression and executive dysfunction in primary dystonia. These results demonstrate for the first time that pathophysiological alterations in primary dystonia might affect cortical activation for executive functioning.

A cross-sectional structured survey of patients receiving botulinum toxin type A treatment for blepharospasm.

To characterize satisfaction with current standard-of-care botulinum neurotoxin type A (BoNT/A) treatment for blepharospasm, we performed a cross-sectional, structured survey in subjects with blepharospasm who had received ≥2 BoNT/A cycles. Subjects were interviewed immediately before re-injection to evaluate treatment satisfaction, time course of treatment effects, preferred injection intervals, Jankovic Rating Scale (JRS), and Blepharospasm Disability Index (BSDI). Subjects' (n=114) last treatment was onabotulinumtoxinA (n=78), incobotulinumtoxinA (n=35), or abobotulinumtoxinA (n=1). The most frequent injection interval was 12weeks (46.5% subjects); 30.7% had an interval >12weeks. The main rationale for interval choice was "to maintain treatment efficacy" (44.7%). However, 36.6% reported that treatment effects usually declined within 8weeks; 69.6% within 10weeks. JRS and BSDI scores indicated re-emergence of symptoms before re-injection, with 70.2% and 73.7% of subjects reporting difficulties to drive and read, respectively. Overall, treatment satisfaction was high, but declined at the end of the cycle. Many subjects (52.3%) would prefer an injection interval of <12weeks; 30.6% of <10weeks. In conclusion, the survey results indicate that blepharospasm symptoms, such as difficulties to drive and read, re-emerge at the end of a BoNT treatment cycle and that flexible, individualized treatment intervals may improve treatment satisfaction and outcomes.

A gait paradigm reveals different patterns of abnormal cerebellar motor learning in primary focal dystonias.

Accumulating evidence points to a role of the cerebellum in the pathophysiology of primary dystonia. The aim of this study was to investigate whether the abnormalities of cerebellar motor learning in primary dystonia are solely detectable in more pure forms of cerebellum-dependent associative motor learning paradigms, or whether these are also present in other motor learning paradigms that rely heavily on the cerebellum but in addition require a more widespread sensorimotor network. Twenty-six patients with various forms of focal dystonia and 10 age-matched healthy controls participated in a motor learning paradigm on a split-belt treadmill. By using reflective markers, three-dimensional kinematics were recorded using a 6-camera motion analysis system. Adaptation walking parameters were analyzed offline, comparing the different dystonia groups and healthy controls. Patients with blepharospasm and writer's cramp were significantly impaired on various adaptation walking parameters. Whereas results of cervical dystonia patients did not differ from healthy controls in terms of adaptation walking parameters, differences in parameters of normal gait were found. We have here demonstrated abnormal sensorimotor adaptation with the split-belt paradigm in patients with blepharospasm and writer's cramp. This reinforces the current concept of cerebellar dysfunction in primary dystonia, and that this extends beyond more pure forms of cerebellum-dependent associative motor learning paradigms. However, the finding of normal adaptation in cervical dystonia patients indicates that the pattern of cerebellar dysfunction may be slightly different for the various forms of primary focal dystonia, suggesting that actual cerebellar pathology may not be a primary driving force in dystonia.

Long-term therapy of benign essential blepharospasm and facial hemispasm with botulinum toxin A: retrospective assessment of the clinical and quality of life impact in patients treated for more than 15 years.

Botulinum toxin type A (BoNT-A) is recognized as the treatment of choice for patients with blepharospasm and facial hemispasm. We report the results of long-term BoNT-A therapy (15-20 years) in a group of patients with blepharospasm (9 patients) and hemifacial spasm (18 patients). We evaluated the number of treatment sessions, duration of therapeutic effects, side effects and their frequency during long-term therapy, and the differences between these two groups of patients. We used patient self-assessment and a patient questionnaire to evaluate the influence of the treatment on their quality of life. We have concluded that BoNT-A is an effective and safe long-term treatment of these facial dyskinesias. Despite the different pathophysiology of blepharospasm and facial hemispasm, the therapy effectiveness is comparable. The only differences were in the side effects. In patients with blepharospasm, the side effect frequency was higher and manifested by double vision or eyelid ptosis. In patients with facial hemispasm, the most frequent side effect was lower facial weakness. No association between therapy duration and side effect frequency was determined. Based on patient questionnaires, all patients believed that the treatment was safe and effective with a positive impact on their quality of life, especially in social communication.

Quality of life in patients with blepharospasm.

The aim of this prospective study was to analyse the quality of life in patients with blepharospasm grade III and IV and to explore whether Botulinum neurotoxin type A treatment improves their quality of life. We used a WHOQOL-BREF questionnaire, based on the existing WHO recommendation and its meaningful metric characteristics. The study included 37 patients with either grade/type III or IV blepharospasm who were treated with Botulinum neurotoxin Type A. Each patient completed the WHOQOL-BREF questionnaire by themselves just before the Botulinum Neurotoxin Type A (BT-A) therapy application, when the clinical symptoms of blepharospasm were most manifest and a month and a half after, when the regression of symptoms appeared. Consequently, the application of BT-A resulted in improved changes in terms of quality of life in 3 of the 4 measured fields (psychical and physical health as well as the environmental living conditions).

Patient-reported benefit from botulinum toxin treatment for essential blepharospasm: using 2 assessment scales.

PURPOSE: To assess and compare the change in quality-of-life and function following treatment with botulinum toxin (BTX) using the Glasgow Benefit Inventory (GBI) and Blepharospasm Disability Index (BSDI) scores. METHODS: A cross-sectional study of 62 consecutive patients treated with BTX for blepharospasm conducted during a postinterventional telephone interview. Post hoc analysis converts the GBI to a score from -100 (maximum harm) through 0 (no effect) to +100 (maximum benefit). The BSDI is converted to a score on a scale from -4 (maximum harm) through 0 (no effect) to +4 (maximum benefit). A Wilcoxon signed-rank test and linear regression analysis were performed. RESULTS: A statistically significant benefit (Wilcoxon signed-rank test) from treatment of 31.36 (95% confidence interval = 26.22-36.50; p < 0.001) and 1.04 (95% confidence interval = 0.80-1.27; p < 0.001) using the GBI and BSDI scores, respectively. Regression analysis was performed demonstrating a strong positive correlation between both scales (r = 0.637). CONCLUSIONS: BTX treatment for blepharospasm is associated with significant patient-reported improvements in quality-of-life (GBI) and functional ability (BSDI) with a strong positive correlation between both scores.

Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer's cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician's dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35/41 (85%), the tactile task in 35/41 (85%) and the mixed task in 26/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer's cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.

Obsessive-compulsive symptoms among patients with blepharospasm and hemifacial spasm.

OBJECTIVE: The aim of this study was to compare the prevalence and the severity of different obsessive-compulsive disorder (OCD) symptoms reported by patients with blepharospasm (BSP) with those reported by patients with hemifacial spasm (HFS). We hypothesized that, since patients with BSP present a dysfunctional striato-thalamo-cortical circuitry, they would exhibit higher prevalence and/or greater severity of OCD symptoms than patients with HFS, a condition that results from peripheral irritation of the facial nerve. METHODS: Twenty-two patients with BSP and 31 patients with HFS were systematically evaluated by means of a sociodemographic and clinical questionnaire, the Mini International Neuropsychiatric Interview, the Obsessive-Compulsive Inventory-Revised, the Beck Depression Inventory (BDI), the Beck Anxiety Inventory (BAI) and the Mini Mental State Examination (MMSE). Diagnostic groups were compared using the Mann-Whitney U test for continuous variables and the Pearson's goodness-of-fit χ(2) test for categorical ones; Fisher's Exact Test was employed when indicated. Correlations between continuous variables were evaluated by means of Spearman coefficients. RESULTS: Patients with BSP and HFS were not significantly different in terms of sociodemographic characteristics and most neuropsychiatric features. Nevertheless, while checking was associated with shorter duration of BSP (Spearman's rho=-0.54; P=.01), hoarding correlated with a longer duration of HFS (Spearman's rho=0.40; P=.04). Length of abnormal movements did not correlate with the BDI, BAI and MMSE scores. CONCLUSIONS: The finding that the severity of different OCD symptoms did not differ between the BSP and HFS groups suggests that BSP may not interfere significantly with behavioral components of the striato-thalamo-cortical circuitry. However, the fact that OCD symptoms were found to follow different courses in distinct diagnostic groups deserves further study.

Factors associated with quality of life in hemifacial spasm and blepharospasm during long-term treatment with botulinum toxin.

PURPOSE: This study was undertaken to assess the impact of hemifacial spasm (HFS) and blepharospasm (BS) on quality of life (QOL) during long-term treatment with botulinum toxin injections. METHODS: Fifty-three patients with HFS and 32 patients with BS as well as two healthy age- and sex-matched control groups were included in the study. All participants independently completed the disease-specific questionnaire for QOL, the HFS-30, and the Thai Depression Inventory, and also provided a peak improvement score assessment. RESULTS: The disease severity in both patient groups revealed mild functional impairment. The scores of HFS-30 in HFS patients (four of 8 subscales) and BS patients (3 of 8 subscales) were significantly higher than the control groups. In both HFS and BS, depression scores were positively correlated with the HFS-30 scores, while peak improvement and educational level were inversely correlated with the HFS-30 scores. Patients with BS were more affected in Mobility and Activities of Daily Living than HFS patients. CONCLUSIONS: Both HFS and BS affect QOL both physically and mentally despite clinical improvement with botulinum toxin. Depression and peak improvement after injection were associated with the level of QOL.

Photophobia in essential blepharospasm--a positron emission tomographic study.

To localize regional alterations in cerebral glucose metabolism in essential blepharospasm (EB) patients with photophobia. We have studied 22 EB patients by performing positron emission tomography and [(18)F]-fluorodeoxyglucose analysis. The patients were classified into two subgroups, namely, EB with photophobia (P group) and EB without photophobia (NP group), and compared with a healthy control group (n = 44). There were no significant differences between the two patient groups with respect to the severity of motor symptoms or the duration for which the condition persisted. The FDG-PET images were analyzed using the statistical parametric mapping software. As compared to the control group, the P group exhibited significant hypermetabolism in the thalamus (P = 0.002), while the NP group exhibited significant hypometabolism in the dorsal midbrain, especially, in the superior colliculus (P = 0.005). The P group exhibited significant hypermetabolism in the thalamus and the dorsal midbrain as compared to the NP group (P < 0.001). These findings suggest that photophobia in EB patients may be associated with abnormal hyperactivity in the thalamus. Either hyperactivity of the thalamus or hypoactivity of the superior colliculus, or both may be associated with excessive blinking in these patients.

Cognitive disturbances in primary blepharospasm.

The common belief that primary dystonia is a purely motor disorder with no anatomical substrate and no other accompanying neurological dysfunction has recently been challenged. In addition, there is increasing evidence that the basal ganglia besides motor control, plays a role in cognitive functioning. However, no systematic cognitive performance evaluation has been carried out in patients with primary blepharospasm (BS), one of the most common forms of adult dystonia. We evaluated a series of 20 patients with primary BS and a group of 17 controls matched by severity of mood symptoms, age, and sex. BS patients performed significantly worse on the Luria sequencing test, Purdue pegboard test, reciprocal coordination, tactile denomination, and reverse visuospatial span and the differences persisted after correction for age, duration of disease, severity of BS, and degree of depression. The Wisconsin card sorting test showed no statistical difference, but BS patients made more errors and more perseverative answers than expected according to population means, whereas the control group performed poorly but within normal parameters. Our findings suggest broad cortical involvement in focal dystonia that is not correlated with the severity or duration of dystonia.