Clinical Neuroscience

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

PÉNTEK Márta1,2, HERCZEGFALVI Ágnes3, MOLNÁR Mária Judit4, SZŐNYI László Pál5, KOSZTOLÁNYI György6, PFLIEGLER György7, MELEGH Béla6, BONCZ Imre8, BRODSZKY Valentin1, BAJI Petra1, SZEGEDI Márta9, POGÁNY Gábor10, GULÁCSI László1

MAY 30, 2016

Clinical Neuroscience - 2016;69(05-06)


[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.]


  1. Budapesti Corvinus Egyetem, Egészségügyi Közgazdaságtan Tanszék, Budapest
  2. Pest Megyei Flór Ferenc Kórház, Reumatológiai és Fizioterápiás Osztály, Kistarcsa 3Semmelweis Egyetem, Általános Orvostudományi Kar, II. Sz. Gyermekgyógyászati Klinika, Budapest
  3. Semmelweis Egyetem, Általános Orvostudományi Kar, II. Sz. Gyermekgyógyászati Klinika, Budapest
  4. Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete, Budapest
  5. Semmelweis Egyetem, Általános Orvostudományi Kar, I. Sz. Gyermekgyógyászati Klinika, Budapest
  6. Pécsi Tudományegyetem Klinikai Központ, Általános Orvostudományi Kar, Orvosi Genetikai Intézet, Pécs
  7. Debreceni Egyetem Klinikai Központ, Belgyógyászati Intézet, Ritka Betegségek Tanszék, Debrecen
  8. Pécsi Tudományegyetem, Egészségtudományi Kar, Egészségbiztosítási Intézet, Pécs
  9. Emberi Erôforrások Minisztériuma Egészségpolitikai Fôosztálya, Budapest
  10. Ritka és Veleszületett Rendellenességgel élôk Országos Szövetsége, Budapest



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MOLNÁR Mária Judit, KLIVÉNYI Péter, ÁCS Péter, KÁLMÁN Bernadette

[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.]

Clinical Neuroscience

The relationship between serum cholesterol and verbal memory may be influenced by body mass index (BMI) in young healthy women

JANSZKY József, KOVÁCS Norbert, CLEMENS Zsófia, ORSI Gergely, PERLAKI Gábor, PLÓZER Enikõ, ALTBACKER Anna, NAGY Szilvia Anett, KŐSZEGI Tamás, DARNAI Gergely, LUCZA Tivadar

The objective of this study was to examine the relationship between verbal memory and total cholesterol (TC) levels related to body mass index (BMI) in healthy young women. Verbal memory was assessed using the Rey Auditory-Verbal Learning Test (RAVLT) while total serum cholesterol was measured by enzymatic colorimetric test. In order to analyze the potential significance of BMI subjects were divided into three groups according to their calculated BMI percentile values. No significant correlation was found when assessing the group as a whole. However a remarkable pattern of correlation emerged when assessing the BMI groups separately: a close-to-significant positive correlation was found for total learning score and TC in the low BMI group, no correlation emerged in the medium BMI group while a strong inverse correlation was found in the high BMI group. These findings indicate that the relationship between verbal memory and serum TC level is also influenced by BMI.

Clinical Neuroscience

[New opportunities in neuro-rehabilitation: Robot mediated therapy in conditons post central nervous system impairments]

FAZEKAS Gábor, TAVASZI Ibolya, TÓTH András

[Decreasing the often-seen multiple disabilities as a consequence of central nervous system impairments requires broadening of the tools of rehabilitation. A promising opportunity for this purpose is the application of physiotherapy robots. The development of such devices goes back a quarter of century. Nowadays several robots are commercially available both for supporting upper and lower limb therapy. The aim is never to replace the therapists, but rather to support and supplement their work. It is worthwhile applying these devices for goal-oriented exercises in high repetition, which one physically fatiguing for the therapist or for the correction of functional movement by various strategies. Robot mediated therapy is also useful for motivation of the patient and making the rehabilitation programme more versatile. Robots can be used for assessment of the neuromotor status as well. Several clinical studies have been executed in this field, all over the world. Meta-analyses based on randomized, controlled trials show that supplementing the traditional physiotherapy with a robot-mediated component presents advantage for the patients. Further studies are necessary to clarify which modality and intensity of the exercises, in which group of patients, in which stage lead to the expected outcome.]

Clinical Neuroscience

Comparison TachoComb with SurgiWrap, Surgicel and Lyodura in epidural fibrosis: An experimental rat model

HUSEYIN Karasu, IŞIL Güzel

Objectives - We designed this study to evaluate the effect of TachoComb and to compare it with SurgiWrap, Surgicel, and Lyodura in an experimental rat model for epidural fibrosis (EF). Methods - This prospective and experimental rat model study was performed at Dicle University, School of Medicine, Department of Neurosurgery, in Diyarbakır, Turkey, between January 2005 and June 2005, using 50 Sprague Dawley rats (30 female and 20 male) with a mean weight of 290 g. The rats were divided into five groups: TachoComb, Surgicel, SurgiWrap, Lyodura, and control. Results - Eight weeks after laminectomy, the rats were killed and EF was evaluated. EF was statistically different between the groups. The lowest EF score was in the TachoComb group (F=6.915, p<0.001). Conclusions - According to this study, TachoComb was found to be a more effective agent in decreasing EF than Surgicel, SurgiWrap, or Lyodura.

Clinical Neuroscience

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

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

[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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[AIM - The aim of our study was to estimate the loss of quality of life due to osteoporotic fractures. We performed a cross-sectional study including 840 patients in 21 centers that specialise in the care of patients with osteoporosis and in acute care of fractures. METHODS - Patients were selected randomly and stratified for the location of and time elapsed since the fracture. Quality of life (QoL) was assessed by the Qualeffo-41 and the EuroQol-5D questionnaires. RESULTS - Patients with morphometric fractures of more than one vertebra had the lowest median EQ-5D index value (0.59). Symptomatic vertebral, hip and arm fractures also considerably decreased QoL. Patients with morphometric fractures of more than one vertebra had the lowest total Qualeffo-41 score. When controlled for age and gender, patients with hip fracture or morphometric vertebral fracture had at least 0.2 less mean utility values than had osteoporotic patients without history of fracture. Patients with more than a oneyear history of hip fracture had QoL scores as low as had patients with an acute fracture. In case of wrist and arm fractures, the acute loss of QoL somewhat decreased with time. CONCLUSION - In conclusion, osteoporotic fractures, especially hip and vertebral fractures result in a significant loss of patients’ quality of life. Our results show that physicians need to pay a close attention to morphometric vertebral fractures, which contribute to a great loss of human capital.]

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Clinical Neuroscience

[The quality of life of the cluster headache patients during the active phase of the headache]


[Introduction - Cluster headache (CH), which affects 0.1% of the population, is one of the most painful human conditions: despite adequate treatment, the frequent and severe headaches cause a significant burden to the patients. According to a small number of previous studies, CH has a serious negative effect on the sufferers’ quality of life (QOL). In the current study, we set out to examine the quality of life of the CH patients attending our outpatient service between 2013 and 2016, using generic and headache-specific QOL instruments. Methods - A total of 42 CH patients (16 females and 26 males; mean age: 39.1±13.5 years) completed the SF-36 generic QOL questionnaire and the headache- specific CHQQ questionnaire (Comprehensive Headache- related Quality of life Questionnaire), during the active phase of their headache. Their data were compared to those of patients suffering from chronic tension type headache (CTH) and to data obtained from controls not suffering from significant forms of headache, using Kruskal-Wallis tests. Results - During the active phase of the CH, the patients’ generic QOL was significantly worse than that of normal controls in four of the 8 domains of the SF-36 instrument. Apart from a significantly worse result in the ‘Bodily pain’ SF-36 domain, there were no significant differences between the CH patients’ and the CTH patients’ results. All the dimensions and the total score of the headache-specific CHQQ instrument showed significantly worse QOL in the CH group than in the CTH group or in the control group. Conclusion - Cluster headache has a significant negative effect on the quality of life. The decrease of QOL experienced by the patients was better reflected by the headache-specific CHQQ instrument than by the generic SF-36 instrument. ]

Clinical Neuroscience

[Effects of neural therapy on quality of live in patients with inoperable lower extremity artery disease ]

KAPÓCS Gábor, MOLNÁR István, HEGYI Gabriella, DEÁK Botond Zsolt, KOVÁCS Zoltán, SZŐKE Henrik

[Objectives - Our aim was to evaluate the effects of percutaneous neurolysis of lumbal sympathetic ganglions on pain and the resulting changes in quality of life with validated objective and subjective methods. To follow the adverse effects and complications of the procedure. Materials and methods - A prospective, non-randomized, interventional, clinical cohort study under real life conditons was conducted. The time of the observation was 6 months. Palliative neural therapy was performed to reduce the ischemic pain of the affected leg of the patients involved in the study. Prior to treatment and after 35 days, Visual Analogue Scale (VAS) was used to measure the intensity of lower limb pain. The related changes in the quality of life were followed by a general 36-Item Short-Form Health Survey (SF-36) questionnaire. We measured the changes of the patients’ skin temperature and ankle/arm index. The post-treatment results were compared to the pre-treatment results. We compared the results of objective and subjective measures. We followed the side effects and complications of the pain therapy. Each of the examined subjects had obliterative (Fontaine II/b stage) arterial disease of the lower limbs, in which no revascularization intervention was feasible and their ischemic pain was of VAS≥7. Results - Data of 124 patients (69 male, 55 female) could be evaluated. The decrease in intensity of limb pain in the post-treatment period was significant (p=0.001). Quality of life also indicated a significant improvement (p=0.004). Changes in skin temperature and ankle/arm index demonstrated significant improvement (p≤0.005): skin temperature increased from 27.6°C to 31.2°C, the ankle/arm index inceased from 0.67 to 0.83 on average. Changes in objective and subjective measures correlated with each other. No worthening of symptoms, serious adverse events or complications were observed. Conclusion - The chemical denervation of the lumbar sympathetic ganglions with percutaneous application is a minimally invasive intervention, useful in outpatient care, which can be well tolerated by the patient without any significant side effect or complication. Its hyperaemic effect and the pain reduction of the leg can improve the quality of life of the patients.]

Clinical Neuroscience

[Examining the psychometric properties of a new quality of life questionnaire in migraineurs]


[Background - The deleterious effect of primary headaches on the sufferers’ quality of life (QOL) has been abundantly documented using both generic and headache-specific instruments. The currently used questionnaires focus on a limited number of factors and therefore may not be sensitive enough to detect the effect of headache type and headache characteristics on QOL, despite the obvious clinical differences. We have devised a comprehensive questionnaire that may be more sensitive to the burden of headache. Objective - To assess the psychometric properties of the new questionnaire on a group of migraineurs. Patients and method - We studied 117 migraineurs who completed the validated Hungarian version of the SF-36 generic QOL measure and our new, 25-item questionnaire. Reliability was assessed by internal consistency, measured by Cronbach’s a of all items. Content validity was exam- ined by calculating the correlation of the items with subscales of the SF-36 measure. The correlation of the patients’ migraine characteristics with the questionnaire’s items was used to assess criterion validity. Results - The questionnaire was quick and easy to administer. The questionnaire demonstrated good reliability, with Cronbach’s alpha being 0.893. Content validity was adequate; most “physical” items of the new questionnaire showed significant correlations with the bodily pain and role physical SF-36 subscales and most “psychical” and “social” items were correlated with mental health and social functioning SF-36 subscales. Criterion validity was adequate, with headache severity being correlated with most of the items. Discussion - In this study the new headache-specific quality of life instrument showed adequate psychometric properties.]