Clinical Neuroscience

[Selective dorsal rhizotomy in the treatment of spasticity - Hungarian experiences ]

FEKETE Gábor, NOVÁK László, VEKERDY-NAGY Zsuzsanna, BOGNÁR László

MAY 30, 2016

Clinical Neuroscience - 2016;69(05-06)

DOI: https://doi.org/10.18071/isz.69.E042

[Objective - We summarize our initial experiences with selective dorsal rhizotomy that we introduced in Hungary to manage the spasticity of patients with cerebral palsy. Patients and methods - Thirty spastic patients were enrolled in our study. All of the patients were operated between July 2014 and June 2015. We performed selective dorsal rhizotomy from a single-level approach at the level of conus medullaris in all cases, with electrophysiological control. Results - We could perform the surgery in all cases safely. Adverse events related either to damage of neurological structures, or to surgery did not occur. The planned rehabilitation courses before and after the operations are in progress in all cases. Conclusion - Selective dorsal rhizotomy is an irreversible surgical intervention to treat spasticity. With sufficient experience and electrophysiological control it can be performed safely, and the early results are promising. ]

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[Disease burden of Duchenne muscular dystrophy patients and their caregivers]

PÉNTEK Márta, HERCZEGFALVI Ágnes, MOLNÁR Mária Judit, SZŐNYI László Pál, KOSZTOLÁNYI György, PFLIEGLER György, MELEGH Béla, BONCZ Imre, BRODSZKY Valentin, BAJI Petra, SZEGEDI Márta, POGÁNY Gábor, GULÁCSI László

[Background and purpose - Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients’ and their caregivers’ health related quality of life and healthcare utilisations. Methods - A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients’ informal carers were surveyed. Results - One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). Conclusion - Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.]

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[The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder’s symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived. To our knowledge, a review article on the most recent clinical data of NBIA has not been published in Hungarian. In the first part of this publication, we survey the general clinical characteristics and the diagnostic algorithm of NBIA diseases and address some considerations for differential diagnostics. In the second part of this review, the particular NBIA disorders are presented in details. The purpose of this article is to provide a clinical overview that may be useful for neurologists, pediatricians and any other medical practitioners interested in this field.]

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