39 research outputs found
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics
Background:
The International Parkinson and Movement Disorders Society (MDS) set up a working group on pediatric movement disorders (MDS Task Force on Pediatrics) to generate recommendations to guide the transition process from pediatrics to adult health care systems in patients with childhood-onset movement disorders. /
Methods:
To develop recommendations for transitional care for childhood onset movement disorders, we used a formal consensus development process, using a multi-round, web-based Delphi survey. The Delphi survey was based on the results of the scoping review of the literature and the results of a survey of MDS members on transition practices. Through iterative discussions, we generated the recommendations included in the survey. The MDS Task Force on Pediatrics were the voting members for the Delphi survey. The task force members comprise 23 child and adult neurologists with expertise in the field of movement disorders and from all regions of the world. /
Results:
Fifteen recommendations divided across four different areas were made pertaining to: (1) team composition and structure, (2) planning and readiness, (3) goals of care, and (4) administration and research. All recommendations achieved consensus with a median score of 7 or greater. /
Conclusion:
Recommendations on providing transitional care for patients with childhood onset movement disorders are provided. Nevertheless several challenges remain in the implementation of these recommendations, related to health infrastructure and the distribution of health resources, and the availability of knowledgeable and interested practitioners. Research on the influence of transitional care programs on outcomes in childhood onset movement disorders is much needed
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Histone lysine methylation, mediated by mixed-lineage leukemia (MLL) proteins, is now known to be critical in the regulation of gene expression, genomic stability, cell cycle and nuclear architecture. Despite MLL proteins being postulated as essential for normal development, little is known about the specific functions of the different MLL lysine methyltransferases. Here we report heterozygous variants in the gene KMT2B (also known as MLL4) in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings. Over time, the majority of affected individuals developed prominent cervical, cranial and laryngeal dystonia. Marked clinical benefit, including the restoration of independent ambulation in some cases, was observed following deep brain stimulation (DBS). These findings highlight a clinically recognizable and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the physiological control of voluntary movement.Funding for the project was provided by the Wellcome Trust for UK10K (WT091310) and DDD Study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003] - see www.ddduk.org/access.html for full acknowledgement. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the Common Fund, NIH Office of the Director. This work was supported in part by the German Ministry of Research and Education (grant nos. 01GS08160 and 01GS08167; German Mental Retardation Network) as part of the National Genome Research Network to A.R. and D.W. and by the Deutsche Forschungsgemeinschaft (AB393/2-2) to A.R. Brain expression data was provided by the UK Human Brain Expression Consortium (UKBEC), which comprises John A. Hardy, Mina Ryten, Michael Weale, Daniah Trabzuni, Adaikalavan Ramasamy, Colin Smith and Robert Walker, affiliated with UCL Institute of Neurology (J.H., M.R., D.T.), Kingâs College London (M.R., M.W., A.R.) and the University of Edinburgh (C.S., R.W.)
Trihexyphenidyl Improves Motor Function in Children with Dystonic Cerebral Palsy: A Retrospective Analysis
clown data.xls
<p><b>Clown-care Reduces Pain in Children with
Cerebral Palsy Undergoing Recurrent Botulinum Toxin Injections- a
Quasi-Randomized Controlled Crossover Study<u></u></b></p
Dopamine receptor autoantibodies correlate with symptoms in Sydenham's chorea.
Sydenham chorea (SC), a neuropsychiatric sequela of group-A streptococcal infection, is associated with basal ganglia autoantibodies. Although autoantibodies have been proposed in neuropsychiatric disorders, little evidence has been shown to link autoimmunity and clinical symptoms. We hypothesized that dopamine receptor-autoantibody interactions may be the basis of neuropsychiatric symptoms in SC.Sera from 22 children with SC (age 10.7±4.5 years) and 22 age-matched controls were studied. Clinical neuropsychiatric symptoms were measured in SC at sample collection using the UFMG-Sydenham's-Chorea-Rating-Scale (USCRS). Anti-dopamine D1 receptor (D1R) and anti-dopamine D2 receptor (D2R) autoantibodies were measured by the enzyme linked immunosorbent assay (ELISA) and were correlated with clinical symptoms.Anti-D1R and anti-D2R autoantibodies were significantly higher in SC compared to controls (nâ=â44; pâ=â0.010 and pâ=â0.017, respectively). We found that the ratio (anti-D2R/D1R) of the two anti-dopaminergic receptor antibodies correlated with neuropsychiatric symptoms as determined by USCRS measurements (nâ=â18; râ=â0.53, pâ=â0.024). In addition, anti-D2R titers correlated with antistreptolysin-O titers (nâ=â43; râ=â0.49, pâ=â0.0008).Our report linked, for the first time, autoimmunity with neuropsychiatric symptoms. The significant correlation was found using ratios of autoantibodies against dopamine receptors (anti-D2R/D1R) rather than the absolute elevated individual anti-D1R or anti-D2R titers. We suggest that autoantibodies may lead to a receptor imbalance and induce greater sensitivity to dopamine signaling potentially leading to neuropsychiatric symptoms in SC. Our novel findings suggesting altered balance in the dopaminergic system may provide a new approach in understanding autoimmune neuropsychiatric disorders with possible implications for diagnosis and treatment
Distribution of Anti-D1R and Anti-D2R IgG antibody titers of Sydenham's chorea patients and controls.
<p>Box plots present Sydenham's chorea (SC; grey) and control (white) group anti-D1R and anti-D2R titers between 25th and 75th percentiles with elevated mean (triangle) and median (bar) titers in SC. Median and percentiles may share same values due to multiple measurements.</p
Dopamine receptor antibody ratio (D2R/D1R) correlates with neuropsychiatric symptoms (USCRS score).
<p>Autoantibody ratio against dopaminergic receptors correlated with the clinical motor and non-motor symptoms. Total USCRS ratings (<i>n</i>â=â18, mean 19.1±11.9) correlated with anti-D2R/anti-D1R ratio (<i>r</i>â=â0.53, <i>P</i>â=â0.024) suggesting that the receptor imbalance may lead to dopaminergic hypersensitivity causing the clinical neuropsychiatric symptoms.</p
Neurologic Sequela in a Patient With Galactosemia Potentially Mediated by Interleukin-11 Dysfunction
Increasing Viscosity and Inertia Using a Robotically Controlled Pen Improves Handwriting in Children
Clinical characteristics of children with Sydenham's chorea.
<p><i>Genâ=âGender; Dxâ=â Diagnosis; Durationâ=â time in months since initial symptoms to clinical and serologic examination. Ac SCâ=â Acute SC, PSCâ=â Persistent SC, RSCâ=â Recurrent SC; M&Aâ=â mitral and aortic; MR- mitral regurgitation; TR- tricuspid regurgitation;</i> Xâ=âNo data.</p