Background Musician’s Dystonia (MD) by impaired or complete loss of fine motor control in extensively trained movements at the instrument. In pianists, it frequently leads to involuntary flexion or extension of one or more fingers. Treatment remains challenging, although local injections with Botulinum toxin, anticholinergic medication and pedagogical retraining seem to be helpful in individual cases. Evaluation of therapies however is frequently hampered by lack of practicability, or validity. This retrospective observational study aims to assess the long-term development of MD and efficacy of therapies in keyboard players by means of a simple video-rating procedure by informed expert raters. Methods Video rating is characterisedwas done by 6 carefully instructed pianists, rating a total of 266 videos from 80 patients, recorded over a period of almost 20 years. These showed the affected hand playing a C-major scale as “regularly” as possible at a moderate tempo on a grand piano. Raters assessed the acoustic irregularity of scale playing and any visible movement impairment on visual analogue scales. Influence of patient-specific factors including applied treatment was estimated in a Bayesian multilevel beta regression. Results For ratings of irregularity and impairment intra-rater reliability was strong and inter-rater concordance was moderate. The average estimated improvement across all therapies was 14% in irregularity and 15% in impairment. Highest improvement rates in ratings of irregularity were found after the combined treatment with Botulinum toxin and Trihexyphenidyl (45%) as well as in retraining (29% improvement) as single therapy. In ratings of impairment the highest improvement was shown for retraining in combination with Trihexyphenidyl (36% improvement) as well as retraining as single therapy (23%). Conclusions This study provides a new perspective on the course of MD in keyboard players in a larger cohort using methods other than self-report. Video rating of scale-playing was shown to be a reliable and useful method to evaluate MD in keyboard players. Average improvement rates were different to previous studies using patient-subjective questionnaires. Treatment options showed different effects in the two rating criteria, with retraining showing the highest improvement rates in single and combined use.
Subthalamic Deep Brain Stimulation (DBS) have demonstrated in the last decades to determine an important clinical improvement in advanced and selected Parkinson’s disease (PD) patients. However, only a minority of parkinsonian patients meet the criteria to undergo DBS, and the surgical procedure itself is often stressful, especially for patients experiencing severe OFF state. Subcutaneous Apomorphine continuous administration is suitable as an adjunctive therapy capable of improving a suboptimal DBS result. Here we hypothesize a possible role for subcutaneous apomorphine infusion to alleviate severe OFF state in parkinsonian patients undergoing DBS, thus allowing intraoperative microrecording and patient’s collaboration during clinical testing. A 68-year-old man, suffering from a very long PD-history, characterized by a severe akinetic status and dramatic non-motor features while in OFF, underwent Subthalamic-DBS keeping a slight but continuous apomorphine infusion (1.8 mg/hour), able to guarantee the right degree of patient’s collaboration without interfering with microelectrode recordings. There were no intra or perioperative complications and after the procedure he experienced a marked clinical benefit, being able to stop apomorphine administration. Here we described the first Subthalamic DBS procedure performed with a low and stable dopaminergic stimulation guaranteed by subcutaneous Apomorphine continuous infusion. For its rapidity of action and prompt reversibility, apomorphine could be particularly suitable for use during difficult surgical procedures in PD, allowing more therapeutic opportunities for patients who would otherwise be excluded from the DBS option.
Background Vitamin B12 deficiency causes a number of neurological features including cognitive and psychiatric disturbances, gait instability, neuropathy, and autonomic dysfunction. Clinical recognition of B12 deficiency in neurodegenerative disorders is more challenging because it causes defects that overlap with expected disease progression. We sought to determine whether B12 levels at the time of diagnosis in patients with Parkinson’s disease (PD) differed from those in patients with other neurodegenerative disorders. Methods We performed a cross-sectional analysis of B12 levels obtained around the time of diagnosis in patients with PD, Multiple System Atrophy (MSA), Dementia with Lewy Bodies (DLB), Alzheimer’s disease (AD), Progressive Supranuclear Palsy (PSP), Frontotemporal Dementia (FTD), or Mild Cognitive Impairment (MCI). We also evaluated the rate of B12 decline in PD, AD, and MCI. Results In multivariable analysis adjusted for age, sex, and B12 supplementation, we found that B12 levels were significantly lower at time of diagnosis in patients with PD than in patients with PSP, FTD, and DLB. In PD, AD, and MCI, the rate of B12 decline ranged from − 17 to − 47 pg/ml/year, much greater than that reported for the elderly population. Conclusions Further studies are needed to determine whether comorbid B12 deficiency affects progression of these disorders.
Cervical dystonia (CD), the most common focal dystonia, is a chronic neurological movement disorder characterized by sustained involuntary contractions of the neck muscles, leading to abnormal postures. AbobotulinumtoxinA (aboBoNT-A) was approved in the US initially as a 500 U per 1-mL dilution and subsequently, as a 500 U/2-mL dilution (or 250 U/mL), thereby providing clinicians with more flexible dosing options to better meet individual patient needs. The objective of this open-label extension study was to evaluate the longer term safety and efficacy of repeat treatments with aboBoNT-A using 2-mL dilutions in adults with cervical dystonia. Patients (N = 112) from a 12-week, double-blind lead-in study (NCT01753310) received up to three additional treatments of aboBoNT-A, with re-treatment every 12–16 weeks based on clinical judgment. Safety was assessed through treatment-emergent adverse events (TEAEs). The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) total and subscale scores were measured at day 1 of each treatment cycle (C), 4 weeks after each treatment, and 12 weeks after the third treatment. Descriptive statistics were used for all analyses. In cycles 1, 2, 3, and 4, respectively, 35.7, 25.9, 30.2, and 22.8% of patients reported TEAEs. Dysphagia, muscular weakness, and neck pain were each reported by 10.7% of patients, over the full study duration. Mean TWSTRS total score decreased from 37.7 (SD 13.6 [C1, day 1]) to 30.1 (SD 12.8 [C3, week 12]). In each cycle, TWSTRS total and subscale scores decreased from day 1 to week 4 and increased between weeks 4 and 12, though the week 12 scores remained lower than day 1 scores. Extended treatment of cervical dystonia with aboBoNT-A (up to 3 additional treatment cycles) using a 2-mL dilution is effective, with a positive risk-benefit profile. ClinicalTrials.gov Identifier: NCT01753336 . Registered 17 Dec 2012.
Kernicterus Spectrum Disorder (KSD) is the result of prolonged bilirubin toxicity resulting in widespread neurological injury. Once the bilirubin levels are normalized the encephalopathy becomes static, however the consequences of the injury can have life-long effects. The sequelae of KSD include motor impairments, auditory deficits, dental dysplasia, and potentially cognitive impairments. While KSD is a rare diagnosis, particularly in developed countries, there is evidence that there may be a global increase in incidence (Hansen, Semin Neonatol 7:103–9, 2002; Johnson, J Perinatol 29:S25–45, 2009; Kaplan etal. Neonatology 100:354–62, 2011; Maisels, Early Hum Dev 85:727–32, 2009; Olusanya etal., Arch Dis Child 99:1117–21, 2014; Steffensrud, Newborn Infant Nurs Rev 4:191–200, 2004). The literature on the treatment of various specific sequelae of KSD is varied, but in general specific therapeutic efforts to improve motor skills are not evidenced-based. The following is a case report on the use of Acquire therapy, an intensive neuromotor intervention, to ameliorate some of the motor-function deficits secondary to KSD. This case-report presents the results of two intensive therapeutic intervention sessions in one male child with KSD. Treatments occurred at 28 and 34 months. The child presented with fine and gross motor deficits as well as communication delays. Each session consisted of daily therapy for 4 h each weekday for 3 weeks. The child was assessed before and after treatment with 2 standardized measures, the Gross Motor Function Measure (GMFM) and The Bayley Scales of Infant and Toddler Development (Bayley). The GMFM at the 1st assessment was 34, 74at the 2nd assessment (after intervention 1), and 64 at the third assessment and 104 at the 4th assessment (after intervention 2). The Bayley at the 3rd assessment was 18, and 38 at the 4th assessment (after intervention 2).
