A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
tone and motor problems; ataxia; ataxia telangectasia; pharmacologic intervention; betamethasone;
No controlled studies exist regarding the pharmaceutical reduction of ataxia symptoms in ataxia telangiectasia (A-T). In a multicenter, double-blind, randomized, placebo-controlled crossover trial, oral betamethasone (BETA) and placebo were compared in terms of their reduction of ataxia symptoms as assessed with the International Cooperative Ataxia Rating Scale (ICARS). In this study of 13 A-T children, betamethasone reduced the ICARS total score by a median of 13 points in the intent-to-treat population and 16 points in the per-protocol population (ie, median percent decreases of ataxia symptoms of 28% and 31%, respectively). In conclusion, Oral betamethasone could be a promising therapy to relieve ataxia symptoms in A-T patients; however, long-term effectiveness and safety must be established. (Current Controlled Trials, number ISRCTN08774933). © 2012 Movement Disorder Society.
Zannolli R; Buoni S; Betti G; Salvucci S; Plebani A; Soresina A; Pietrogrande M C; Martino S; Leuzzi V; Finocchi A; Micheli R; Rossi L N; Brusco A; Misiani F; Fois A; Hayek J; Kelly C; Chessa L
Movement Disorders
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.25126" target="_blank" rel="noreferrer noopener">10.1002/mds.25126</a>
Video game-based coordinative training improves ataxia in children with degenerative ataxia
tone and motor problems; Friedreich's ataxia; physical intervention; video game-based coordinative training; ataxia; balance
Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have drawbacks for children, often including a lack of motivation for high-frequent physiotherapy. Recently developed whole-body controlled video game technology might present a novel treatment strategy for highly interactive and motivational coordinative training for children with degenerative ataxias. Methods: We examined the effectiveness of an 8-week coordinative training for 10 children with progressive spinocerebellar ataxia. Training was based on 3 Microsoft Xbox Kinect video games particularly suitable to exercise whole-body coordination and dynamic balance. Training was started with a laboratory-based 2-week training phase and followed by 6 weeks training in children's home environment. Rater-blinded assessments were performed 2 weeks before laboratorybased training, immediately prior to and after the laboratory-based training period, as well as after home training. These assessments allowed for an intraindividual control design, where performance changes with and without training were compared. Results: Ataxia symptoms were significantly reduced (decrease in Scale for the Assessment and Rating of Ataxia score, p = 0.0078) and balance capacities improved (dynamic gait index, p = 0.04) after intervention. Quantitative movement analysis revealed improvements in gait (lateral sway: p = 0.01; step length variability: p = 0.01) and in goal-directed leg placement (p 5 0.03). Conclusions: Despite progressive cerebellar degeneration, children are able to improvemotor performance by intensive coordination training. Directed training of whole-body controlled video games might present a highly motivational, cost-efficient, and home-based rehabilitation strategy to train dynamic balance and interaction with dynamic environments in a large variety of youngonset neurologic conditions. Classification of evidence: This study provides Class III evidence that directed training with Xbox Kinect video games can improve several signs of ataxia in adolescents with progressive ataxia as measured by SARA score, Dynamic Gait Index, and Activity-specific Balance Confidence Scale at 8 weeks of training. © 2012 American Academy of Neurology.
Ilg W; Schatton C; Schicks J; Giese M A; Schols L; Synofzik M
Neurology
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1212/WNL.0b013e3182749e67" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e3182749e67</a>
Rett's syndrome: Characterization of respiratory patterns and sleep
etiology; ataxia; major clinical study; central nervous system; priority journal; seizure; human; child; diagnosis; Rett syndrome; autism; dementia; heredity; hyperpnea; respiratory system; sleep; breathing difficulties; sleep disturbance; trajectory; characteristics; abnormal respiratory problems; abnormal sleep patterns
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washing) and to exhibit intermittent hyperventilation. To characterize more precisely the sleep and respiratory patterns associated with this disorder, polygraphic studies were made during sleep and wakefulness in 11 patients with this syndrome. These studies showed abnormal respiratory patterns during wakefulness, and abnormal sleep and electroencephalographic characteristics. The patients had decreased percentages of rapid-eye-movement sleep, and during wakefulness, a pattern of disorganized breathing was observed in all 11 patients and consisted of hypoxia followed by a period of increased respiratory rate and effort. The occurrence of disorganized breathing and compensatory hyperpnea during wakefulness with regular, continuous breathing during sleep is characteristic of Rett's syndrome and suggests an altered or impaired voluntary/behavioral respiratory control system.
Glaze D G; Frost Jr J D; Zoghbi H Y; Percy A K
Annals of Neurology
1987
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ana.410210410" target="_blank" rel="noreferrer noopener">10.1002/ana.410210410</a>
Comparison of three clinical rating scales in Friedreich ataxia (FRDA)
tone and motor problems; Friedreich's ataxia; trajectory; characteristics; ataxia
To test the validity and reliability of the scale for the assessment and rating of ataxia (SARA) in Friedreich ataxia (FRDA). SARA is limited to eight items and can be performed rapidly. Ninety-six patients with a molecular genetic diagnosis of FRDA were rated using three different clinical scales, the FRDA Rating Scale (FARS), the International Cooperative Ataxia Rating Scale (ICARS), and SARA. Despite considerable discrepancies in scale size and subscale structure, SARA total scores were significantly correlated with ICARS (r = 0.953, P < 0.0001) and FARS (r = 0.938, P < 0.0001) total scores. SARA total scores also correlated with the activities of daily living (ADL, r = 0.929, P < 0.0001). Although originally developed for the use in dominantly inherited ataxias, which are primarily ataxias of the cerebellar type, SARA can also be used successfully to assess afferent ataxia, which is the predominant form in FRDA. Because SARA is characterized by high interrater reliability and practicability, SARA is applicable and well suited forclinical trials of FRDA.
Bürk K; Mälzig U; Wolf S; Heck S; Dimitriadis K; Schmitz-Hübsch T; Hering S; Lindig T M; Haug V; Timmann D; Degen I; Kruse B; Dörr J M; Ratzka S; Ivo A; Schols L; Boesch S; Klockgether T; Klopstock T; Schulz J B
Movement Disorders
2009
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/mds.22660" target="_blank" rel="noreferrer noopener">10.1002/mds.22660</a>