Data-driven clustering of combined Functional Motor Disorders based on the Italian registry

Functional Motor Disorders (FMDs) represent nosological entities with no clear phenotypic characterization, especially in patients with multiple (combined FMDs) motor manifestations. A data-driven approach using cluster analysis of clinical data has been proposed as an analytic method to obtain non-hierarchical unbiased classifications. The study aimed to identify clinical subtypes of combined FMDs using a data-driven approach to overcome possible limits related to "a priori" classifications and clinical overlapping

Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain

Neurobiological features and response to eye movement desensitization and reprocessing treatment of posttraumatic stress disorder in patients with breast cancer

Background: Breast cancer (BC) is one of the most common invasive types of cancer among women, with important consequences on both physical and psychological functioning. Patients with BC have a great risk of developing posttraumatic stress disorder (PTSD), but few studies have evaluated the efficacy of psychological interventions to treat it. Furthermore, no neuroimaging studies have evaluated the neurobiological effects of psychotherapeutic treatment for BC-related PTSD. Objective: The study aimed to evaluate the efficacy of Eye Movement Desensitization and Reprocessing therapy (EMDR) as compared to Treatment as Usual (TAU) in BC patients with PTSD, identifying by electroencephalography (EEG) the neurophysiological changes underlying treatments effect and their correlation with clinical symptoms. Method: Thirty patients with BC and PTSD diagnosis were included, receiving either EMDR (n = 15) or TAU (n = 15). Patients were assessed before and after treatments with clinical questionnaires and EEG. The proportion of patients who no longer meet criteria for PTSD after the intervention and changes in clinical scores, both between and within groups, were evaluated. Two-sample permutation t-tests among EEG channels were performed to investigate differences in power spectral density between groups. Pearson correlation analysis was carried out between power bands and clinical scores. Results: At post-treatment, all patients treated with EMDR no longer met criteria for PTSD, while all patients treated with TAU maintained the diagnosis. A significant decrease in depressive symptoms was found only in the EMDR group, while anxiety remained stable in all patients. EEG results corroborated these findings, showing significant differences in delta and theta bands in left angular and right fusiform gyri only in the EMDR group. Conclusions: It is essential to detect PTSD symptoms in patients with BC, in order to offer proper interventions. The efficacy of EMDR therapy in reducing cancer-related PTSD is supported by both clinical and neurobiological findings

Expert recommendations for diagnosing cervical, oromandibular, and limb dystonia

Background: Diagnosis of focal dystonia is based on clinical grounds and is therefore open to bias. To date, diagnostic guidelines have been only proposed for blepharospasm and laryngeal dystonia. To provide practical guidance for clinicians with less expertise in dystonia, a group of Italian Movement Disorder experts formulated clinical diagnostic recommendations for cervical, oromandibular, and limb dystonia. Methods: A panel of four neurologists generated a list of clinical items related to the motor phenomenology of the examined focal dystonias and a list of clinical features characterizing neurological/non-neurological conditions mimicking dystonia. Thereafter, ten additional expert neurologists assessed the diagnostic relevance of the selected features and the content validity ratio was calculated. The clinical features reaching a content validity ratio > 0.5 contributed to the final recommendations. Results: The recommendations retained patterned and repetitive movements/postures as the core feature of dystonia in different body parts. If present, a sensory trick confirmed diagnosis of dystonia. In the patients who did not manifest sensory trick, active exclusion of clinical features related to conditions mimicking dystonia (features that would be expected to be absent in dystonia) would be necessary for dystonia to be diagnosed. Discussion: Although reliability, sensitivity, and specificity of the recommendations are yet to be demonstrated, information from the present study would hopefully facilitate diagnostic approach to focal dystonias in the clinical practice and would be the basis for future validated diagnostic guidelines

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

BACKGROUND: Acute peripheral trauma is a controversial risk factor for idiopathic dystonia. MATERIALS AND METHODS: We retrospectively analyzed data from the Italian Dystonia Registry regarding the occurrence of acute peripheral trauma severe enough to require medical attention in 1382 patients with adult-onset idiopathic dystonia and 200 patients with acquired adult-onset dystonia. RESULTS: Patients with idiopathic and acquired dystonia showed a similar burden of peripheral trauma in terms of the number of patients who experienced trauma (115/1382 vs. 12/200, p\u202f=\u202f0.3) and the overall number of injuries (145 for the 1382 idiopathic patients and 14 for the 200 patients with secondary dystonia, p\u202f=\u202f0.2). Most traumas occurred before the onset of idiopathic or secondary dystonia but only a minority of such injuries (14 in the idiopathic group, 2 in the acquired group, p\u202f=\u202f0.6) affected the same body part as that affected by dystonia. In the idiopathic group, the elapsed time between trauma and dystonia onset was 8.1\u202f\ub1\u202f9.2 years; only six of the 145 traumas (4.1%) experienced by 5/1382 idiopathic patients (0.36%) occurred one year or less before dystonia onset; in the acquired dystonia group, the two patients experienced prior trauma to the dystonic body part 5 and 6 years before dystonia development. DISCUSSION AND CONCLUSION: Our data suggest that the contribution of peripheral acute trauma to idiopathic dystonia is negligible, if anything, and likely involves only a small subset of patients

Correction to: Demographic and clinical determinants of neck pain in idiopathic cervical dystonia (Journal of Neural Transmission, (2020), 127, 10, (1435-1439), 10.1007/s00702-020-02245-4)

Cervical dystonia is associated with neck pain in a signifcant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain

Data-driven clustering of combined Functional Motor Disorders based on the Italian registry

Introduction: Functional Motor Disorders (FMDs) represent nosological entities with no clear phenotypic characterization, especially in patients with multiple (combined FMDs) motor manifestations. A data-driven approach using cluster analysis of clinical data has been proposed as an analytic method to obtain non-hierarchical unbiased classifications. The study aimed to identify clinical subtypes of combined FMDs using a data-driven approach to overcome possible limits related to "a priori" classifications and clinical overlapping. Methods: Data were obtained by the Italian Registry of Functional Motor Disorders. Patients identified with multiple or "combined" FMDs by standardized clinical assessments were selected to be analyzed. Non-hierarchical cluster analysis was performed based on FMDs phenomenology. Multivariate analysis was then performed after adjustment for principal confounding variables. Results: From a study population of n = 410 subjects with FMDs, we selected n = 188 subjects [women: 133 (70.7%); age: 47.9 ± 14.4 years; disease duration: 6.4 ± 7.7 years] presenting combined FMDs to be analyzed. Based on motor phenotype, two independent clusters were identified: Cluster C1 (n = 82; 43.6%) and Cluster C2 (n = 106; 56.4%). Cluster C1 was characterized by functional tremor plus parkinsonism as the main clinical phenotype. Cluster C2 mainly included subjects with functional weakness. Cluster C1 included older subjects suffering from anxiety who were more treated with botulinum toxin and antiepileptics. Cluster C2 included younger subjects referring to different associated symptoms, such as pain, headache, and visual disturbances, who were more treated with antidepressants. Conclusion: Using a data-driven approach of clinical data from the Italian registry, we differentiated clinical subtypes among combined FMDs to be validated by prospective studies

Phenotypic Variability in Acquired and Idiopathic Dystonia

BackgroundTo date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias. ObjectivesTo compare demographic data and clinical features in patients with adult-onset acquired and idiopathic dystonias. MethodsPatients were identified from among those included in the Italian Dystonia Registry, a multicenter Italian dataset of patients with adult-onset dystonia. Study population included 116 patients with adult-onset acquired dystonia and 651 patients with isolated adult-onset idiopathic dystonia. ResultsComparison of acquired and idiopathic dystonia revealed differences in the body distribution of dystonia, with oromandibular dystonia, limb and trunk dystonia being more frequent in patients with acquired dystonia. The acquired dystonia group was also characterized by lower age at dystonia onset, greater tendency to spread, lower frequency of head tremor, sensory trick and eye symptoms, and similar frequency of neck pain associated with CD and family history of dystonia/tremor. ConclusionsThe clinical phenomenology of dystonia may differ between acquired and idiopathic dystonia, particularly with regard to the body localization of dystonia and the tendency to spread. This dissimilarity raises the possibility of pathophysiological differences between etiologic categories

Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry

none42noIntroduction: Cervical dystonia (CD) is one of the most common forms of adult-onset isolated dystonia. Recently, CD has been classified according to the site of onset and spread, in different clinical subgroups, that may represent different clinical entities or pathophysiologic subtypes. In order to support this hypothesis, in this study we have evaluated whether different subgroups of CD, that clinically differ for site of onset and spread, also imply different sensorimotor features. Methods: Clinical and demographic data from 842 patients with CD from the Italian Dystonia Registry were examined. Motor features (head tremor and tremor elsewhere) and sensory features (sensory trick and neck pain) were investigated. We analyzed possible associations between motor and sensory features in CD subgroups [focal neck onset, no spread (FNO-NS); focal neck onset, segmental spread (FNO-SS); focal onset elsewhere with segmental spread to neck (FOE-SS); segmental neck involvement without spread (SNI)]. Results: In FNO-NS, FOE-SS, and SNI subgroups, head tremor was associated with the presence of tremor elsewhere. Sensory trick was associated with pain in patients with FNO-NS and with head tremor in patients with FNO-SS. Conclusion: The frequent association between head tremor and tremor elsewhere may suggest a common pathophysiological mechanism. Two mechanisms may be hypothesized for sensory trick: a gating mechanism attempting to reduce pain and a sensorimotor mechanism attempting to control tremor.openDi Biasio F.; Marchese R.; Abbruzzese G.; Baldi O.; Esposito M.; Silvestre F.; Tescione G.; Berardelli A.; Fabbrini G.; Ferrazzano G.; Pellicciari R.; Eleopra R.; Devigili G.; Bono F.; Santangelo D.; Bertolasi L.; Altavista M.C.; Moschella V.; Barone P.; Erro R.; Albanese A.; Scaglione C.; Liguori R.; Cotelli M.S.; Cossu G.; Ceravolo R.; Coletti Moja M.; Zibetti M.; Pisani A.; Petracca M.; Tinazzi M.; Maderna L.; Girlanda P.; Magistrelli L.; Misceo S.; Romano M.; Minafra B.; Modugno N.; Aguggia M.; Cassano D.; Defazio G.; Avanzino L.Di Biasio, F.; Marchese, R.; Abbruzzese, G.; Baldi, O.; Esposito, M.; Silvestre, F.; Tescione, G.; Berardelli, A.; Fabbrini, G.; Ferrazzano, G.; Pellicciari, R.; Eleopra, R.; Devigili, G.; Bono, F.; Santangelo, D.; Bertolasi, L.; Altavista, M. C.; Moschella, V.; Barone, P.; Erro, R.; Albanese, A.; Scaglione, C.; Liguori, R.; Cotelli, M. S.; Cossu, G.; Ceravolo, R.; Coletti Moja, M.; Zibetti, M.; Pisani, A.; Petracca, M.; Tinazzi, M.; Maderna, L.; Girlanda, P.; Magistrelli, L.; Misceo, S.; Romano, M.; Minafra, B.; Modugno, N.; Aguggia, M.; Cassano, D.; Defazio, G.; Avanzino, L