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



Further articles in this publication

Clinical Neuroscience

[The changes in quality of life after instrumented surgical fusion of degenerative spondylolisthesis]


[Objective - There is no internationally accepted guideline for treatment of spondylolisthesis in the literature, otherwise this degenerative disease has great social and economical impact. There is no hungarian study examining the efficacy of instrumented fusion procedure in surgical treatment of spondylolisthesis. In current study we examined the effectiveness of fusion technique focusing on the impact of quality of life. Methods - Between 1st January, 2011 and 30th June, 2012 we examined a group of patients - who were operated on by instrumented fusion technique because of spondylolisthesis -, in the National Institute of Clinical Neurosciences, using the Oswestry Low Back Disability Questionnaire. All patients were treated after ineffective conservative treatment. The question was wheather how has changed the patients’ quality of life after the operation. Paired-sample t-test was used in this study. Results - Eighty-eight of the 97 examined patients reported different levels of impovement in the postoperative period, two patient’s condition has not changed in spite of the surgery, seven patient’s condition showed progression in average one year after the surgery. The pain improved most significantly (55.5%) (p<0.0001). Using the 16 point borderline according to the Questionnaire (over moderate disability), significant improvement was detected in 50 patients (51.5%). Succesful surgical result - according to the quality of life - was seen in 77.41% of male and in 50.98% of female patients. According to the different age groups, 72.72% of the younger (before retirement), and 53.06% of the retired patients belonged to this group. At least 15 point improvement was detected 35.05% of the patients, the overall improvement was 10.5 point. Discussion - Our results proved effectiveness of instrumented surgical fusion procedure in the treatment of degenerative spondylolisthesis. According to our results the younger male population with significant symptoms is the group, where improvement in quality of life is more pronaunced after the surgical procedure. Conclusion - The instrumented fusion surgical technique provides successful clinical and surgical outcome in patients with degenerative spondylolisthesis. It could improve the quality of life. Althought multicentre follow-up studies are needed to determine the exact indication and optimal therapy.]

Clinical Neuroscience

[Experiences of hypothalamic hamartoma surgeries]

NOVÁK László, KISS Máté Tamás, KLEKNER Álmos, NAGY Andrea, FEDORCSÁK Imre, BOGNÁR László

[Background and purpose - Hypothalamic hamartomas are focal, benign congenital malformations that frequently associated with gelastic seizures. Behavioural disturbances, cognitive decline and the appearance of precocious puberty can also be observed. The most effective way to relieve the symptoms is the surgical disconnection between the hamartoma and the hypothalamus. In our study, we retrospectively analyzed the surgical indications and effectiveness of each approach. Methods - Between 1996 and 2014 we operated on 10 hypothalamic hamartomas. Endoscopic assisted resection was performed in three patients. Six patients underwent direct microsurgical resection in various approaches and one patient was treated with Gamma Knife. Results - We achieved significant decrease in the number of seizures in every patient presenting with various seizure types. The surgical resection was effective in the arresting of the puberty praecox as well. However the surgery of these lesions at their special location holds the danger of the appearance of new endocrinological symptoms. According to our observations the operation on hamartoma less effectively ameliorates the psychiatric symptoms than the others. Conclusion - The surgical treatment is effective in the reduction of the initial symptoms and we had no mortality. According to our analysis therapeutic success is anticipated but we couldn’t archive total symptomatic relief in every case. The first approach to these lesions should be the surgery which type must be tailored to each patient.]

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

[Analysis of mental arithmetic task by the “minimum spanning tree” method]

BOHA Roland, TÓTH Brigitta, KARDOS Zsófia, FILE Bálint, GAÁL Zsófia Anna, MOLNÁR Márk

[Goals - In the present study basic arithmetic induced rearrangements in functional connections of the brain were investigated by using graph theoretical analysis what becomes increasingly important both in theoretical neuroscience and also in clinical investigations. Research questions - During mental arithmetic operations (working) memory plays an important role, but there are only a few studies in which an attempt was made to separate this effect from the process of arithmetic operations themselves. The goal of our study was to separate the neural networks involved in cognitive functions. Methods - As an attempt to clarify this issue the graph-theoretical “minimal spanning tree” method was used for the analysis of EEG recorded during task performance. The effects of passive viewing, number recognition and mental arithmetic on PLI based minimal spanning trees (MST) were investigated on the EEG in young adults (adding task: 17 subjects; passive viewing and number recognition: 16 subjects) in the θ (4-8 Hz) frequency band. Results - Occipital task relevant synchronization was found by using the different methods, probably related to the effect of visual stimulation. With respect to diameter, eccentricity and fraction of leafs different task-related changes were found. Discussion - It was shown that the task related changes of various graph indices are capable to identify networks behind the various relevant dominant functions. Thus the “minimal spanning tree” method is suitable for the analysis of the reorganization of the brain with respect to cognitive functions.]

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.

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Clinical Neuroscience

[Earlier and more efficiently: the role of deep brain stimulation for parkinson’s disease preserving the working capabilities]

DELI Gabriella, BALÁS István, KOMOLY Sámuel, DÓCZI Tamás, JANSZKY József, ASCHERMANN Zsuzsanna, NAGY Ferenc, BOSNYÁK Edit, KOVÁCS Norbert

[Background – The recently published “EarlyStim” study demonstrated that deep brain stimulation (DBS) for the treatment of Parkinson’s disease (PD) with early fluctuations is superior to the optimal pharmacological treatment in improving the quality of life and motor symptoms, and preserving sociocultural position. Our retrospective investigation aimed to evaluate if DBS therapy was able to preserve the working capabilities of our patients. Methods – We reviewed the data of 39 young (<60 years-old) PD patients who underwent subthalamic DBS implantation at University of Pécs and had at least two years follow-up. Patients were categorized into two groups based on their working capabilities: Patients with active job (“Job+” group, n=15) and retired patients (without active job, “Job-” group, n=24). Severity of motor symptoms (UPDRS part 3), quality of life (EQ-5D) and presence of active job were evaluated one and two years after the operation. Results – As far as the severity of motor symptoms were concerned, similar (approximately 50%) improvement was achieved in both groups. However, the postoperative quality of life was significantly better in the Job+ group. Majority (12/15, 80%) of Job+ group members were able to preserve their job two years after the operation. However, only a minimal portion (1/24, 4.2%) of the Job- group members was able to return to the world of active employees (p<0.01, McNemar test). Conclusion – Although our retrospective study has several limitations, our results fit well with the conclusions of “EarlyStim” study. Both of them suggest that with optimal timing of DBS implantation we may preserve the working capabilities of our patients.]

Hypertension and nephrology

[Sleep disorders and quality of life in patients after kidney transplantation]

TURÁNYI Csilla Zita, ZALAI Dóra, MOLNÁR Miklós Zsolt, NOVÁK Márta, MUCSI István

[Kidney transplantation provides the best outcomes, concerning morbidity, mortality and health related quality of life for patients with end stage renal disease. Health related quality of life is increasingly recognized as an important outcome measure in patients with different chronic medical conditions, including chronic kidney disease. Sleep disorders, such as insomnia, sleep apnea syndrome and restless legs syndrome are common in patients with chronic kidney disease. The prevalence of insomnia and restless legs syndrome is similar in kidney transplanted patients to the prevalence observed in the general population. On the other hand, the prevalence of sleep apnea is considerably higher, about 30%. The association between sleep disorders and impaired health related quality of life has been relatively well documented in dialysis patients but only scarce information has been published about the kidney transplanted population. In this paper we summarize published data about sleep disorders and also about their association with health related quality of life in the kidney transplanted population.]

Clinical Neuroscience

[Special concerns in medical care of severely demented patients suffering from Alzheimer disease]


[While the expected life-time increases dementias will show a pandemic nature. Author analyses the special medical and social concerns of severe states of Alzheimer disease. Having introduced the epidemiologic, diagnostic data and forms of palliatíve therapies he concentrates on the hitherto unsolved problems of patients and caregivers. He belongs to the experts identifying the Alzheimer diseases as a forced aging process. Accepted the theory of L. Hayflick he evaluates the aging process in frame of an evolution model. He states that for aged human beings having already performed the task of reproduction further conditions of living circumstances and even that of death are no more programmed. This hypothesis may have a very negative content at the first sense. But the author rather considers the uncertainty of aging a positive message. He establishes that the occurrence of degenerative processes connecting the aging must be limited by preventive interventions far more efficient than the present possibilities. Concerning these steps we are still on the level of recommendations for preserving our general health and data of relevant science are quite contradictory. Although criteria of “healthy", “qualified” or “assumable” aging are getting defined, we still do not know exactly how we should live optimally and what should we do for this in different epochs of our life. Somatic and psychological parameters are lacking which would be able to signalize the actual level of the aging process in a given person. We, physicians, also do not have exact opinion on the level of severity of dementias at which the patient already lost his her features of personality and individuality on an irreversible way. We have no idea on the phase when the ratio of joy and suffer falls below the value of 1.0 because we still have no tool for its measure. The author pointed the necessity of acceptance of a new preventive attitude and application of new methods in the medical care of the forced or pathological aging, instead of the present approaches based on the “wait and treat” attitude. Because of the intensive increase of the patient population the identification and care of patients can be efficient with a much more involvement of the basic medical network. Financial background can be improved by new theoretical bases of criteria of the palliative treatments. But the direct professional programs can be planned after solution of the existing moral and social dilemmas.]

Journal of Nursing Theory and Practice

[The place and role of physiotherapy in total joint replacement surgery patients improve their quality of life]


[Aim of the research: The objective of investigation was to survey the efficiency of the rehabilitation of the patients operated with complete knee endoprosthesis (TKR) nursed in the Rehabilitation Centre and whether the bath course with the applied complex physiotherapy and the spring water of induce any change in the life quality of the patients and whether the efficiency of the physiotherapy can be measured. Research and sampling methods: prospective, quantitative, describing research, with non-random, convenience sampling method. 50 TEP-operated patients have filled in the self-filling questionnaires and participated in the examination of the walking time. The examination was performed between 03/01/2013-12/01/2013 in the Musculoskeletal Rehabilitation Centre of the Gunaras. The patients have filled in the WOMAC, SF-36, BDI, questionnaire compiled by us. Additionally we have measured the walking speed on flat ground and during climbing stairs. The patients have taken a bath in 36C spa for 3 weeks, 7-times a week for 20 minutes and 5-times a week they have received electrotherapy, physiotherapy and hydrotherapy. Results: The majority of the participants of the investigation belonged to the age group of 71-75. The patients avail themselves of the treatments regularly, once or twice a year, which are evaluated by women as more efficient than by men (p <0,001). After the treatments the extent of depression has significantly reduced (p <0,001). There was a significant improvement in the walking speed (p < 0,001), in the SF-36 (TF, PCS) dimensions and we have detected a significant relation between physical and mental health (p <0,001). The movement range of the patients has significantly improved (WOMAC, p=0,001). Between the result of the SF-36 and WOMAC questionnaires we have found also a significant relation (p=0,001), with the improvement of the physical function the life quality has also improved. Conclusions: The results have shown, that the application of the spring water and physiotherapy have proven as efficient treatment in the life quality improvement of the patients operated with complete knee prosthesis. ]

Journal of Nursing Theory and Practice

[Focus on quality of life: Reconstruction in Vascular Surgery ]


[The aims of the study: The aim of our research was to gain deeper insight into the quality of life of patients after reconstructive vascular surgery of the lower limb. Material and method: The Vascuqol questionnaire survey was performed at the PTE KK Vascular Surgery Clinic on the day before the surgery and 3-6 weeks after surgery (N=54). Statistical analysis was carried out with Microsoft Office Excel 2013. Results: In summary it can be stated that following surgical intervention the quality of life of patients significantly improved, this finding ephasises the importance of invasise therapy. As the extent of pain decreased after surgery, patients’ ability to walk started to improve, as well as their overall physical state and ability to carry out certain household activities. There was also an improvement in their social life, more time was spent with family and friends. Conclusions: Although the VascuQoL-25 questionaire is senstivie device to measure quality of life, it is difficult to apply in clinical practice beacause of its length.]