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Oosterling I.J.,Karakter Child and Adolescent Psychiatry University Center | Wensing M.,Radboud University Nijmegen | Wensing M.,Nijmegen Center for Evidence Based Practice | Swinkels S.H.,Karakter Child and Adolescent Psychiatry University Center | And 9 more authors.
Journal of Child Psychology and Psychiatry and Allied Disciplines | Year: 2010

Background: Few field trials exist on the impact of implementing guidelines for the early detection of autism spectrum disorders (ASD). The aims of the present study were to develop and evaluate a clinically relevant integrated early detection programme based on the two-stage screening approach of Filipek et al. (1999), and to expand the evidence base for this approach. Methods: The integrated early detection programme encompassed: 1) training relevant professionals to recognise early signs of autism and to use the Early Screening of Autistic Traits Questionnaire (ESAT; Dietz, Swinkels et al., 2006; Swinkels, van Daalen, van Engeland, & Buitelaar, 2006), 2) using a specific referral protocol, and 3) building a multidisciplinary diagnostic team. The programme was evaluated in a controlled study involving children in two regions (N = 2793, range 0-11 years). The main outcome variables were a difference in mean age at ASD diagnosis and a difference in the proportion of children diagnosed before 36 months. Results: ASD was diagnosed 21 months (95% CI 9.6, 32.4) earlier in the experimental region than in the control region during the follow-up period, with the mean age at ASD diagnosis decreasing by 19.5 months (95% CI 10.5, 28.5) from baseline in the experimental region. Children from the experimental region were 9.4 times (95% CI 2.1, 41.3) more likely than children from the control region to be diagnosed before age 36 months after correction for baseline measurements. Most of these early diagnosed children had narrowly defined autism with mental retardation. Conclusions: The integrated early detection programme appears to be clinically relevant and led to the earlier detection of ASD, mainly in children with a low IQ. © 2009 Association for Child and Adolescent Mental Health.

Lutomski J.E.,National University of Ireland | Lutomski J.E.,Nijmegen Center for Evidence Based Practice | Shiely F.,University College Cork | Molloy E.J.,National Maternity Hospital | Molloy E.J.,Our Ladys Childrens Hospital
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2014

Re-emerging syphilis outbreaks across Europe have led to increasing syphilis rates among women of child-bearing age. We, therefore, identified all forms of syphilis cases among women hospitalized for delivery in Ireland over a six-year period. Cases per annum ranged from 10 to 24 (13.8-32.9 per 100 000 maternities). Rates of syphilis in this universally screened cohort were four times higher than the general Irish population. Future studies examining the incidence of congenital syphilis as well as patterns in follow-up treatment for the sero-positive mother and her infant are needed to better guide clinical intervention. © 2014 Informa UK Ltd.

Vinck A.,Radboud University Nijmegen | Verhagen M.M.M.,Radboud University Nijmegen | Van Gerven M.,Nijmegen Center for Evidence Based Practice | De Groot I.J.M.,Nijmegen Center for Evidence Based Practice | And 4 more authors.
Developmental Neurorehabilitation | Year: 2011

Objective: To describe cognitive and speech-language functioning of patients with ataxia-telangiectasia (A-T) in relation to their deteriorating (oculo)motor function. Design: Observational case series. Methods: Cognitive functioning, language, speech and oral-motor functioning were examined in eight individuals with A-T (six boys, two girls), taking into account the confounding effects of motor functioning on test performance. Results: All patients, except the youngest one, suffered from mild-to-moderate/severe intellectual impairment. Compared to developmental age, patients showed cognitive deficits in attention, (non)verbal memory and verbal fluency. Furthermore, dysarthria and weak oral-motor performance was found. Language was one of the patients' assets. Conclusion: In contrast to the severe deterioration of motor functioning in A-T, cognitive and language functioning appeared to level off with a typical profile of neuropsychological strengths and weaknesses. Based on our experiences with A-T, suggestions are made to determine a valid assessment of the cognitive and speech-language manifestations. © 2011 Informa UK Ltd All rights reserved.

Van Den Engel-Hoek L.,Nijmegen Center for Evidence Based Practice | Erasmus C.E.,Radboud University Nijmegen | Hendriks J.C.M.,Radboud University Nijmegen | Geurts A.C.H.,Nijmegen Center for Evidence Based Practice | And 5 more authors.
Journal of Neurology | Year: 2013

Dysphagia is reported in advanced stages of Duchenne muscular dystrophy (DMD). The population of DMD is changing due to an increasing survival. We aimed to describe the dysphagia in consecutive stages and to assess the underlying mechanisms of dysphagia in DMD, in order to develop mechanism based recommendations for safe swallowing. In this cross-sectional study, participants were divided into: early and late ambulatory stage (AS, n = 6), early non-ambulatory stage (ENAS, n = 7), and late non-ambulatory stage (LNAS, n = 11). Quantitative oral muscle ultrasound was performed to quantify echo intensity. Swallowing was assessed with a video fluoroscopic swallow study, surface electromyography (sEMG) of the submental muscle group and tongue pressure. Differences in outcome parameters among the three DMD stages were tested with analysis of variance. Oral muscles related to swallowing were progressively affected, starting in the AS with the geniohyoid muscle. Tongue (pseudo) hypertrophy was found in 70 % of patients in the ENAS and LNAS. Oral phase problems and post-swallow residue were observed, mostly in the LNAS with solid food. sEMG and tongue pressure data of swallowing solid food revealed the lowest sEMG amplitude, the longest duration and lowest tongue pressure in the LNAS. In case of swallowing problems in DMD, based on the disturbed mechanisms of swallowing, it is suggested to (1) adjust meals in terms of less solid food, and (2) drink water after meals to clear the oropharyngeal area. © Springer-Verlag Berlin Heidelberg 2012.

Fonteyn E.M.R.,Radboud University Nijmegen | Fonteyn E.M.R.,Canisius Wilhelmina Hospital | Keus S.H.J.,Radboud University Nijmegen | Keus S.H.J.,Nijmegen Center for Evidence Based Practice | And 5 more authors.
Journal of Neurology | Year: 2014

Many patients with cerebellar ataxia have serious disabilities in daily life, while pharmacological treatment options are absent. Therefore, allied health care is considered to be important in the management of these patients. The goal of this review is to evaluate scientific evidence for allied health care in cerebellar ataxia, to identify effective treatment strategies, and to give recommendations for clinical practice and further research. A systematic search for clinical trials concerning allied health care in cerebellar ataxias was conducted using the electronic databases of PubMed, Medline, Embase, Cinahl and Pedro, and references lists of articles, in the time period from 1980 up to and including December 2011 in English and Dutch. We identified 14 trials, of which the four best studies were formally of moderate methodological quality. There was a wide variation in disease entities and interventions. The combined data indicate that physical therapy may lead to an improvement of ataxia symptoms and daily life functions in patients with degenerative cerebellar ataxia (level 2), and in other diseases causing cerebellar ataxia (level 3). When added to physical therapy, occupational therapy might improve global functional status, and occupational therapy alone may diminish symptoms of depression (level 3). There are insufficient data for speech and language therapy. Despite the widespread use of allied health care interventions in cerebellar ataxia, there is a lack of good quality studies that have evaluated such interventions. We found some support for the implementation of physical therapy and occupational therapy, but more research is needed to develop recommendations for clinical practice. © Springer-Verlag 2013.

Fonteyn E.M.R.,Radboud University Nijmegen | Fonteyn E.M.R.,Canisius Wilhelmina Hospital | Keus S.H.J.,Radboud University Nijmegen | Keus S.H.J.,Nijmegen Center for Evidence Based Practice | And 2 more authors.
Cerebellum | Year: 2013

Physiotherapy plays an important role in the management of patients with degenerative cerebellar ataxias. However, our insight in the quantity and quality of physiotherapy prescription in this group of patients is incomplete. The purposes of this study were to investigate the utilization of physiotherapy and patient satisfaction in patients with degenerative ataxias in The Netherlands and to examine the level of expertise and needs of physiotherapists treating ataxia patients. Questionnaires were sent to members of the Dutch association for patients with degenerative cerebellar ataxias (n=532). In addition, 181 questionnaires were sent to the physiotherapists who had recently treated the patients who responded. Eventually, 317 questionnaires from patients (60 %) and 114 questionnaires from physiotherapists (63 %) could be used for further analysis. Sixty-four percent of the patients were currently treated by a physiotherapist. Their median treatment duration was 5 years. Nineteen percent of the patients had never been referred, often despite the presence of limitations in daily activities. On the other hand, some participants without reported limitations had received physiotherapy. In general, participants were satisfied with their physiotherapist. The most reported treatment goals were improvement or maintenance of balance, general physical condition, and mobility. Physiotherapists reported lack of ataxia-specific expertise and expressed the need for education and evidencebased guidelines. Referral to and use of physiotherapy in patients with degenerative cerebellar ataxia in The Netherlands are currently inconsistent and not in agreement with the little scientific evidence available. Referral rates are high, but referrals and actual necessity are discrepant; treatment duration is long; and ataxia-specific expertise among physiotherapists is insufficient. Evidence-based recommendations and specific training of physiotherapists are needed. © Springer Science+Business Media New York 2013.

Van Kuppeveld F.J.M.,Radboud University Nijmegen | Van Kuppeveld F.J.M.,Nijmegen Institute for Infection | Van Kuppeveld F.J.M.,Nijmegen Center for Molecular Life science | De Jong A.S.,Radboud University Nijmegen | And 19 more authors.
BMJ (Online) | Year: 2010

Objective: The presence of the retrovirus xenotropic murine leukaemia virus-related virus (XMRV) has been reported in peripheral blood mononuclear cells of patients with chronic fatigue syndrome. Considering the potentially great medical and social relevance of such a discovery, we investigated whether this finding could be confirmed in an independent European cohort of patients with chronic fatigue syndrome. Design: Analysis of a well defined cohort of patients and matched neighbourhood controls by polymerase chain reaction. Setting: Certified (ISO 15189) laboratory of clinical virology in a university hospital in the Netherlands. Population: Between December 1991 and April 1992, peripheral blood mononuclear cells were isolated from 76 patients and 69 matched neighbourhood controls. In this study we tested cells from 32 patients and 43 controls from whom original cryopreserved phials were still available. Main outcome measures: Detection of XMRV in peripheral blood mononuclear cells by real time polymerase chain reaction assay targeting the XMRV integrase gene and/or a nested polymerase chain reaction assay targeting the XMRV gag gene. Results: We detected no XMRV sequences in any of the patients or controls in either of the assays, in which relevant positive and negative isolation controls and polymerase chain reaction controls were included. Spiking experiments showed that we were able to detect at least 10 copies of XMRV sequences per 105 peripheral blood mononuclear cells by real time as well as by nested polymerase chain reaction, demonstrating high sensitivity of both assays. Conclusions: This study failed to show the presence of XMRV in peripheral blood mononuclear cells of patients with chronic fatigue syndrome from a Dutch cohort. These data cast doubt on the claim that XMRV is associated with chronic fatigue syndrome in the majority of patients.

PubMed | Nijmegen Center for Evidence Based Practice
Type: Comparative Study | Journal: Disability and rehabilitation | Year: 2011

Patients with neuromuscular diseases (NMDs) do not always receive appropriate allied health care. This is partially because of the large heterogeneity among these conditions, some of which are quite rare. Individual allied health care professionals, therefore, have relatively little opportunity to develop relevant experience with these patients. To overcome this problem, we developed specialist multidisciplinary advice regarding management of patients with NMD for occupational therapy (OT), physical therapy (PT) and speech therapy (ST) in a primary care or rehabilitation setting. The aims of the study were to explore to what extent this allied health care advice was implemented with a focus on the amount of therapy received and to explore possible barriers to implementation.One-hundred two patients visited the Neuromuscular Centre Nijmegen for OT, PT and ST consultations. Integrated allied health care advice was written on the basis of these consultations and a multidisciplinary meeting. All patients, their therapists and rehabilitation physicians received this advice. Following the advice, questionnaires were sent out at baseline and at 6 months follow up, collecting data on implementation of the amount of therapy suggested and on possible barriers for adherence.Advice for ST and OT was fully implemented in primary care, but only partially (58%) in a rehabilitation setting. Advice to reduce the amount of PT was implemented in only 15% of the cases. Possible barriers were related to the advice itself (feasibility of treatment duration, correctness and completeness), the patient (motivation) and the professional (experience in treatment of NMDs). Therapists expressed a desire to have the opportunity to discuss the treatment advice with the multidisciplinary team.The extent to which multidisciplinary advice was implemented differed for OT and ST compared to PT and for the setting (primary care or rehabilitation). Possible barriers were identified at different levels. We recommend follow-up telephone calls to provide therapists opportunity for discussion.

PubMed | Nijmegen Center for Evidence Based Practice
Type: | Journal: Parkinsonism & related disorders | Year: 2010

Parkinsons disease (PD) is a chronic and progressive neurodegenerative disorder with a complex phenotype, featuring a wide variety of both motor and non-motor symptoms. Current medical management is usually monodisciplinary, with an emphasis on drug treatment, sometimes supplemented with deep brain surgery. Despite optimal medical management, most patients become progressively disabled. Allied health care may provide complementary benefits to PD patients, even for symptoms that are resistant to pharmacotherapy or surgery. This notion is increasingly supported by scientific evidence. In addition, the role of allied health care is now documented in recent clinical practice guidelines that are available for physiotherapy, occupational therapy and speech-language therapy. Unfortunately, adequate delivery of allied health care is threatened by the insufficient expertise among most therapists, and the generally low patient volumes for each individual therapist. Moreover, most allied health interventions are used in isolation, with insufficient collaboration and communication with other disciplines involved in the care for PD patients. Clinical experience suggests that optimal management requires a multidisciplinary approach, with multifactorial health plans tailored to the needs of each individual patient. Although the merits of specific allied health care interventions have been scientifically proven for other chronic disorders, only few studies have tried to provide a scientific basis for a multidisciplinary care approach in PD. The few studies published so far were not yet convincing. We conclude by providing recommendations for current multidisciplinary care in PD, while highlighting the need for future clinical trials to evaluate the cost-effectiveness of a multidisciplinary team approach.

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