Margaret Kaminska

Learn More
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the(More)
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(More)
The finite life of non-rechargeable batteries powering implantable pulse generators (IPG) necessitates their periodic replacement. Children receiving deep brain stimulation (DBS) may require frequent battery changes over their treatment lifetime. We aimed to determine the battery life of IPGs used in pallidal DBS for the treatment of dystonia in children(More)
OBJECT Intrathecal baclofen (ITB) is an effective management option for childhood hypertonia. Given the potential complications of implanted ITB pumps, trials of ITB are usually performed as part of the workup for ITB pumps. Two methods are used for ITB trials, lumbar puncture (LP) and catheter insertion into the intrathecal space. Little has been written(More)
BACKGROUND Early onset dystonia (dyskinesia) and deafness in childhood pose significant challenges for children and carers and are the cause of multiple disability. It is particularly tragic when the child cannot make use of early cochlear implantation (CI) technology to relieve deafness and improve language and communication, because severe cervical and(More)
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry H. Houlden, James Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki H. Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark(More)
AIM Dystonia is a movement disorder characterized by involuntary muscle contractions, resulting in abnormalities of posture and movement. Children with dystonia are at risk of developing fixed musculoskeletal deformities (FMDs). FMDs cause pain, limit function and participation and interfere with care. We aimed to explore factors relating to the development(More)
INTRODUCTION AND METHODS The impact of dystonia in childhood is poorly understood. We report our experience of referrals between 2005 and 2012. RESULTS Of 294/315 assessable children, 15/294 had pure spasticity, leaving 279/294 with dystonia classified as primary (30/279:10.7%); primary-plus (19/279:6.8%) and secondary (230/279:82.4%) dystonia, including(More)
BACKGROUND Data around current prescription practices in childhood dystonia is limited. Medication use may be limited by side effects, the incidence of which is uncertain. For a large cohort assessed by our supra-regional service we aimed to: i) Review medications used at the point of referral. ii) Determine the prevalence of adverse drug responses (ADR)(More)
OBJECTIVE To evaluate the safety, efficacy and effective dosage of clonidine in the outpatient (OP) management of secondary dystonia. METHODS A retrospective analysis of children and young people (CAYP) prescribed clonidine in an OP clinic between January 2011 and November 2013 for dystonia management. Of 224 children receiving clonidine, 149/224 did not(More)