Background: Long-term efficacy of deep brain stimulation (DBS) on health-related quality-of-life (HRQoL) for isolated dystonia is not well established. This study aims to determine the long-term impact of DBS on HRQoL outcomes and identify clinical predictors.
Methods: We retrospectively investigated 16 inherited or idiopathic isolated dystonia patients treated with bilateral globus pallidus internus DBS who were followed beyond 9 years at our center. The cohort consisted of 9 males, 7 females; 10 generalized, 6 segmental; mean (range) age at implantation, 37.0 (8-67) years; mean follow-up duration after implantation, 10.9 (9-13) years. We employed the Unified Dystonia Rating Scale for motor and Short Form Health Survey for HRQoL assessments to monitor the change longitudinally. We analyzed the changes in motor and HRQoL at 1-2 years (short-term) and ≥9 years (long-term) follow-up as compared to baseline with a Wilcoxon signed-rank test. We assessed the factors that predicted motor and HRQoL improvement with univariate regression analyses.
Results: Motor (41.6%; p = 0.004) and HRQoL (total score, p = 0.039) improvements remained significant at long-term follow-up and, in the regression analysis, change in HRQoL outcomes correlated significantly with change in motor outcomes (R = 0.384, p = 0.010). Additionally, short-term motor and HRQoL improvements predicted the long-term motor (R = 0.384, p = 0.010) and HRQoL (total score, R = 0.594, p < 0.001) outcomes, respectively.
Conclusion: Motor and HRQoL improvements with DBS in isolated dystonia remain sustained for nearly a decade and may largely be predictable by the short-term response to DBS.
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http://dx.doi.org/10.1016/j.parkreldis.2019.04.024 | DOI Listing |
Endocr J
January 2025
Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan.
The use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities. We report the case of a 41-year-old woman with a history of Graves' disease, who presented with progressive joint pain and severe fatigue. Despite the absence of bone lesions, the patient was diagnosed with HPP based on persistently low alkaline phosphatase levels, family history, and a novel heterozygous ALPL variant (p.
View Article and Find Full Text PDFPsychiatr Clin North Am
March 2025
Department of Neuropsychiatry, BSMHFT and University of Birmingham, Birmingham, UK; Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology and University College London, London, UK; School of Life and Health Sciences, Aston Brain Centre, Aston University, Birmingham, UK; School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy. Electronic address:
Research conducted since the turn of the millennium has shown that the quality of life in patients with Tourette syndrome is affected by various health-related factors. The condition's chronic nature, along with its social and emotional implications, can significantly diminish the overall quality of life. Both core symptoms-motor and vocal tics-and associated comorbidities can contribute to functional impairments and reduced well-being.
View Article and Find Full Text PDFChild Neuropsychol
January 2025
Child Development Center, University Children's Hospital Zurich, Zurich, Switzerland.
Executive function (EF) impairments are prevalent in survivors of neonatal critical illness such as children born very preterm (VPT) or with complex congenital heart disease (cCHD). This paper aimed to describe EF profiles in school-aged children born VPT or with cCHD and in typically developing peers, to identify child-specific and family-environmental factors associated with these profiles and to explore links to everyday-life outcomes. Data from eight EF tests assessing working memory, inhibition, cognitive flexibility, switching, and planning in = 529 children aged between 7 and 16 years was subjected into a latent profile analysis.
View Article and Find Full Text PDFAsian Pac Isl Nurs J
January 2025
Nursing Care Research Center, Clinical Sciences Institute, Nursing Faculty, Baqiyatallah University of Medical Sciences, Vanak Square, Tehran, Iran, 98 9127297199.
Background: Neuromuscular disorders (NMDs) constitute a heterogeneous group of disorders that affect motor neurons, neuromuscular junctions, and muscle fibers, resulting in symptoms such as muscle weakness, fatigue, and reduced mobility. These conditions significantly affect patients' quality of life and impose a substantial burden on caregivers. Spinal muscular atrophy (SMA) is a relatively common NMD in children that presents in various types with varying degrees of severity.
View Article and Find Full Text PDFAmyotroph Lateral Scler Frontotemporal Degener
January 2025
2nd Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
Motor Neuron Diseases (MNDs), familial and sporadic, are progressive neurodegenerative disorders that, for an extended period in the past, were considered purely motor disorders. During the course of the disease, however, some patients exhibit concomitant non-motor signs; thus, MNDs are currently perceived as multisystem disorders. Assessment of non-motor symptoms is usually performed clinically, although laboratory tests can also be routinely used to objectively evaluate these symptoms.
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