R Jeroen Vermeulen

VU University Amsterdam, Amsterdamo, North Holland, Netherlands

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Publications (61)133.04 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: In clinical practice, a variety of diagnostic tests are available to assess a child's comprehension of spoken language. However, none of these tests have been designed specifically for use with children who have severe motor impairments and who experience severe difficulty when using speech to communicate. This article describes the process of investigating the reliability and validity of the Computer-Based Instrument for Low Motor Language Testing (C-BiLLT), which was specifically developed to assess spoken Dutch language comprehension in children with cerebral palsy and complex communication needs. The study included 806 children with typical development, and 87 nonspeaking children with cerebral palsy and complex communication needs, and was designed to provide information on the psychometric qualities of the C-BiLLT. The potential utility of the C-BiLLT as a measure of spoken Dutch language comprehension abilities for children with cerebral palsy and complex communication needs is discussed.
    Augmentative and alternative communication (Baltimore, Md.: 1985) 06/2014; · 0.94 Impact Factor
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    ABSTRACT: Background:Attention problems are among the most prominent behavioral deficits reported in very preterm children (below 32 wk of gestation) at school age. In this study, we aimed to elucidate the brain abnormalities underlying attention problems in very preterm children by investigating the role of abnormalities in white and gray brain matter during interference control, using functional magnetic resonance imaging (fMRI)-guided probabilistic diffusion tensor tractography.Methods:Twenty-nine very preterm children (mean (SD) age: 8.6 (0.3) y), and 47 term controls (mean (SD) age: 8.7 (0.5) y), performed a fMRI version of the Eriksen Flanker task measuring interference control.Results:Very preterm children showed slower reaction times than term controls when interfering stimuli were presented, indicating poorer interference control. Very preterm children and term controls did not differ in mean activation of the cortical regions involved in interference control. However, impaired fractional anisotropy (FA) was found in very preterm children in specifically those fiber tracts that innervate the cortical regions involved in interference control. Lower FA was related to poorer interference control in very preterm children.Conclusion:White matter alterations have a crucial role in the interference control problems of very preterm children at school age.Pediatric Research (2014); doi:10.1038/pr.2014.31.
    Pediatric Research 03/2014; · 2.67 Impact Factor
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    PharmaNutrition. 01/2014; 2(3):89.
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    ABSTRACT: Dystonic cerebral palsy is primarily caused by damage to the basal ganglia and central cortex. The daily care of these patients can be difficult due to dystonic movements. Intrathecal baclofen treatment is a potential treatment option for dystonia and has become common practice. Despite this widespread adoption, high quality evidence on the effects of intrathecal baclofen treatment on daily activities is lacking and prospective data are needed to judge the usefulness and indications for dystonic cerebral palsy. The primary aim of this study is to provide level one clinical evidence for the effects of intrathecal baclofen treatment on the level of activities and participation in dystonic cerebral palsy patients. Furthermore, we hope to identify clinical characteristics that will predict a beneficial effect of intrathecal baclofen in an individual patient.Methods/design: A double blind placebo-controlled multi-center randomized clinical trial will be performed in 30 children with dystonic cerebral palsy. Patients aged between 4 and 25 years old with a confirmed diagnosis of dystonic cerebral palsy, Gross Motor Functioning Classification System level IV or V, with lesions in the cerebral white matter, basal ganglia or central cortex and who are eligible for intrathecal baclofen treatment will be included. Group A will receive three months of continuous intrathecal baclofen treatment and group B will receive three months of placebo treatment, both via an implanted pump. After this three month period, all patients will receive intrathecal baclofen treatment, with a follow-up after nine months. The primary outcome measurement will be the effect on activities of and participation in daily life measured by Goal Attainment Scaling. Secondary outcome measurements on the level of body functions include dystonia, spasticity, pain, comfort and sleep-related breathing disorders. Side effects will be monitored and we will study whether patient characteristics influence outcome. The results of this study will provide data for evidence-based use of intrathecal baclofen in dystonic cerebral palsy.Trial registration: Nederlands Trial Register: NTR3642.
    BMC Pediatrics 10/2013; 13(1):175. · 1.98 Impact Factor
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    ABSTRACT: Very preterm children (<32 weeks of gestation) are characterized by impaired white matter development as measured by fractional anisotropy (FA). This study investigates whether altered FA values underpin the widespread motor impairments and higher incidence of developmental coordination disorder (DCD) in very preterm children at school-age. Thirty very preterm born children (mean (SD) age of 8.6 (0.3) years) and 47 term born controls (mean [SD] age 8.7 [0.5] years) participated. Motor development was measured using the Movement Assessment Battery for Children. A score below the 15th percentile was used as a research diagnosis of DCD. FA values, as measure of white matter abnormalities, were determined for 18 major white matter tracts, obtained using probabilistic diffusion tensor tractography. Large-sized reductions in FA of the cingulum hippocampal tract right (d = 0.75, p = .003) and left (d = 0.76, p = .001), corticospinal tract right (d = 0.56, p = .02) and left (d = 0.65, p = .009), forceps major (d = 1.04, p < .001) and minor (d = 0.54, p = .02) were present in very preterms, in particular with a research diagnosis of DCD. Reduced FA values moderately to strongly related to motor impairments. A ROC curve for average FA, as calculated from tracts that significantly discriminated between very preterm children with and without a research diagnosis of DCD, showed an area under curve of 0.87 (95% CI 0.74-1.00, p = .001). This study provides clear evidence that reduced FA values are strongly underpinning motor impairment and DCD in very preterm children at school-age. In addition, outcomes demonstrate that altered white matter FA values can potentially be used to discriminate between very preterm children at risk for motor impairments, although future studies are warranted.
    European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 10/2013; · 2.01 Impact Factor
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    ABSTRACT: Information regarding the selection procedure for selective dorsal rhizotomy (SDR) in children with spastic cerebral palsy (CP) is scarce. Therefore, the aim of this study was to summarize the selection criteria for SDR in children with spastic CP. A systematic review was carried out using the following databases: MEDLINE, CINAHL, EMBASE, PEDro, and the Cochrane Library. Additional studies were identified in the reference lists. Search terms included 'selective dorsal rhizotomy', 'functional posterior rhizotomy', 'selective posterior rhizotomy', and 'cerebral palsy'. Studies were selected if they studied mainly children (<18y of age) with spastic CP, if they had an intervention of SDR, if they had a detailed description of the selection criteria, and if they were in English. The levels of evidence, conduct of studies, and selection criteria for SDR were scored. Fifty-two studies were included. Selection criteria were reported in 16 International Classification of Functioning, Disability and Health model domains including 'body structure and function' (details concerning spasticity [94%], other movement abnormalities [62%], and strength [54%]), 'activity' (gross motor function [27%]), and 'personal and environmental factors' (age [44%], diagnosis [50%], motivation [31%], previous surgery [21%], and follow-up therapy [31%]). Most selection criteria were not based on standardized measurements. Selection criteria for SDR vary considerably. Future studies should describe clearly the selection procedure. International meetings of experts should develop more uniform consensus guidelines, which could form the basis for selecting candidates for SDR.
    Developmental Medicine & Child Neurology 09/2013; · 2.68 Impact Factor
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    ABSTRACT: Intramuscular injection of botulinum toxin type-A given by manual intramuscular needle placement in the lower extremity under general anaesthesia is an established treatment and standard of care in managing spasticity in children with spastic cerebral palsy. Optimal needle placement is essential. However, reports of injection and verification techniques used in previous studies have been partly incomplete and there are methodological shortcomings. This paper describes a detailed protocol for manual intramuscular needle placement checked by passive stretching and relaxing of the target muscle for each individual muscle injection location in the lower extremity during botulinum toxin type-A treatment under general anaesthesia in children with spastic cerebral palsy. It explains the design of a study to verify this protocol, which consists of an injection technique combined with a needle localizing technique, as by means of electrical stimulation to determine its precision. Setting: University Medical Centre, Department of Paediatric Rehabilitation Medicine, the Netherlands. prospective observational study.Participants: children with spastic cerebral palsy, aged 4 to 18 years, receiving regular botulinum toxin type-A treatment under general anaesthesia to improve their mobility, are recruited from the Department of Paediatric Rehabilitation Medicine at VU University Medical Centre, Amsterdam, the Netherlands. a detailed protocol for manual intramuscular needle placement checked by passive stretching and relaxing of the target muscle has been developed for each individual muscle injection location of the adductor brevis muscle, adductor longus muscle, gracilis muscle, semimembranosus muscle, semitendinosus muscle, biceps femoris muscle, rectus femoris muscle, gastrocnemius lateralis muscle, gastrocnemius medialis muscle and soleus muscle. This protocol will be verified as by means of electrical stimulation.Technical details: 25 mm or 50 mm Stimuplex-needle and a Stimuplex-HNS-12 electrical stimulator will be used. Botulinum toxin type-A injected in the intended muscle is expected to yield the greatest effect in terms of activities. Protocols for manual intramuscular needle placement should be described in detail and verified to determine its precision. Detailed and verified protocols are essential to be able to interpret the results of botulinum toxin type-A treatment studies.
    BMC Pediatrics 08/2013; 13(1):129. · 1.98 Impact Factor
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    ABSTRACT: Little is known about the long-term effects of Continuous intrathecal Baclofen (CITB) therapy in non-ambulant children with intractable spastic Cerebral Palsy (CP). To determine whether short-term beneficial effects of CITB therapy are present at the long-term, and whether caregivers would choose CITB therapy for their child again considering the advantages and disadvantages encountered over the years. Long-term follow-up data were obtained of the children whom had previously participated in a RCT on CITB by the Dutch Study Group on Spasticity. Quality of life (QoL) was assessed by the Child Health Questionnaire (CHQ), current satisfaction with CITB was measured by use of a Visual Analogue Scale regarding previously set treatment goals, functioning in daily living was determined by a questionnaire concerning functioning of the child, and possible detrimental effects of CITB therapy encountered over the years were noted. All data were acquired via interview of the caregivers. All 17 children of the former trial participated in this study. Previously identified significant positive effects on pain (CHQ 46.8 vs. 74.38, p = 0.002; VAS 2.4 vs. 8.01, p = 0.02), ease of care (VAS 2.0 vs. 7.26, p = 0.00), and mental health (CHQ 67.2 vs. 75.94, p = 0.010) were still present at the end of the trial. Novel significant positive effects were noted at six to nine years follow-up, i.e. significantly improved scores on the Parent Impact - Emotional subscale (CHQ 66.0 vs. 78.2, p = 0.008), Parent Impact - Time subscale (CHQ 68.9 vs. 91.72, p = 0.002), and the Physical Summary (CHQ 17.6 vs. 27.4, p = 0.019) compared to baseline. Ninety-four percent of the caregivers would choose CITB treatment again for their child again. The beneficial effects of CITB are present at the long term and caregiver satisfaction is high.
    European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 07/2013; · 2.01 Impact Factor
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    ABSTRACT: AIM: The aim of the study was to assess cognitive outcome in children with periventricular haemorrhagic infarction (PVHI) or perinatal arterial ischaemic stroke (PAIS) and relate these findings to early developmental outcome and neonatal magnetic resonance imaging findings. METHOD: A neuropsychological assessment was performed in 50 children (26 males, 24 females) with unilateral PVHI (n=21) or PAIS (n=29) at a median age of 11 years 9 months (range 6-20y). This included tests for intelligence, verbal memory, visual-motor integration, word comprehension, attention, reaction times, and executive function. The Griffiths Mental Development Scale was used for early developmental assessment at 24 months (range 18-32mo). RESULTS: In children with PVHI, both the early Griffiths scores (mean 87; 95% CI 83-92) and the Full-scale IQ (FSIQ) scores at school age (mean 86; 95% CI 78-94) were below the test mean of 100. In the PAIS group, early Griffiths scores were within the normal range (mean 98; 95% CI 93-104), but at school age FSIQ scores were below average (mean 87; 95% CI 80-94). In children with PVHI, FSIQ scores correlated with the level of maternal education and were lower after ventricular dilatation, whereas both involvement of the basal ganglia and thalami and development of postneonatal epilepsy were associated with lower cognitive outcome in children who had experienced PAIS. INTERPRETATION: Cognitive outcome after PVHI or PAIS is below average, but still within 1SD for most children. Prediction of cognitive outcome remains challenging, but some early predictors can be recognized.
    Developmental Medicine & Child Neurology 06/2013; · 2.68 Impact Factor
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    ABSTRACT: AIM: Unilateral perinatal brain injury may result in recruitment of ipsilateral projections originating in the unaffected hemisphere and development of unilateral spastic cerebral palsy (USCP). The aim of this study was to assess the predictive value of neonatal neuroimaging following perinatal brain injury for recruitment of ipsilateral corticospinal tracts. METHOD: Neonatal magnetic resonance imaging (MRI) and cranial ultrasound scans of 37 children (20 males, 17 females; median [range] gestational age 36 wks(+4) [26(+6) -42wks(+5) ] and birthweight 2312 g ([770-5230g]) with unilateral perinatal arterial ischaemic stroke (n=23) or periventricular haemorrhagic infarction (n=14) were reviewed and scored for involvement of the corticospinal trajectory. Hand function was assessed using the Assisting Hand Assessment (AHA) and transcranial magnetic stimulation (TMS) was performed (age range 7y 4mo-18y and 7mo) to determine the type of cortical motor organization (normal, mixed or ipsilateral). Neuroimaging scores were used to predict TMS patterns. RESULTS: Eighteen children developed USCP with ipsilateral corticospinal tract projections in 13 children (eight mixed, five ipsilateral). AHA scores decreased with increased ipsilateral projections. Asymmetry of the corticospinal tracts seen on neonatal MRI was predictive of development of USCP and recruitment of ipsilateral tracts (positive and negative predictive value of 73% and 91%). INTERPRETATION: Neonatal neuroimaging can predict recruitment of ipsilateral corticospinal tracts. Early knowledge of the expected pattern of cortical motor organization will allow early identification of children eligible for early therapy.
    Developmental Medicine & Child Neurology 05/2013; · 2.68 Impact Factor
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    ABSTRACT: Patients with severe cerebral palsy (CP) often have poor speech ability but potentially better language comprehension. The arcuate fasciculus and the extreme capsule are two important language tracts between the Wernicke and Broca areas. Using diffusion tensor imaging, we visualized language tracts and pyramidal tracts in both hemispheres in 10 controls (5 to 18 years) and 5 patients (5 to 23 years) with severe CP. Language comprehension was assessed with a recently designed instrument (the Computer-Based instrument for Low motor Language Testing [C-BiLLT]). The language tracts were visualized in all control children and in four CP patients. In one CP patient without any objective language comprehension skills, no language tract could be visualized. Both language and pyramidal tracts were smaller in patients than in controls. These preliminary data indicate a relation between language tracts and language skills. Further research is necessary to study the value of structural integrity of language tracts in predicting language comprehension in CP patients.
    Neuropediatrics 04/2013; · 1.19 Impact Factor
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    ABSTRACT: AIM: The aim of this study was to evaluate the long-term effect of selective dorsal rhizotomy (SDR) on the gross motor function of ambulant children with spastic bilateral cerebral palsy (CP), compared with reference centiles. METHOD: The study used a prospective cohort design and participants comprised 29 children classified using the Gross Motor Function Classification System (GMFCS) in level I (n=7), II (n=4), or III (n=18; 18 males, 11 females; median age at time of surgery 6y 4mo; range 2y 10mo-12y 1mo), who were examined 5 years and 10 years after SDR. We used individual centiles based on Gross Motor Function Measure (GMFM-66) scores and age, corresponding to the GMFCS levels. Individual improvement or deterioration was defined as a change of more than 20 centiles. Side effects experienced and additional treatment received after SDR were also recorded. RESULTS: Five years after SDR, 10 out of 28 children showed improvement, and 10 years after SDR 6 out of 20 children had improved. Spinal side effects were noted in two children and hip subluxation in three. Additional treatments included subtalar arthrodesis (n=13), endorotational osteotomy of the tibia (n=5), and botulinum toxin treatment (n=13). INTERPRETATION: None of the children showed deterioration of gross motor function based on centile ranking. Five and 10 years after SDR, gross motor function in some children had improved more than would have been expected according to the reference centiles. This suggests, taking the limitations of this study into account, that the applied criteria for selection were adequate. However, the children still required additional treatment after SDR.
    Developmental Medicine & Child Neurology 04/2013; · 2.68 Impact Factor
  • Lonneke Weierink, R Jeroen Vermeulen, Roslyn N Boyd
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    ABSTRACT: This systematic review aimed to establish the current knowledge about brain structure and executive function (EF) in children with cerebral palsy (CP). Five databases were searched (up till July 2012). Six articles met the inclusion criteria, all included structural brain imaging though no functional brain imaging. Study quality was assessed using the STROBE checklist. All articles scored between 58.7% and 70.5% for quality (100% is the maximum score). The included studies all reported poorer performance on EF tasks for children with CP compared to children without CP. For the selected EF measures non-significant effect sizes were found for the CP group compared to a semi-control group (children without cognitive deficits but not included in a control group). This could be due to the small sample sizes, group heterogeneity and lack of comparison of the CP group to typically developing children. The included studies did not consider specific brain areas associated with EF performance. To conclude, there is a paucity of brain imaging studies focused on EF in children with CP, especially of studies that include functional brain imaging. Outcomes of the present studies are difficult to compare as each study included different EF measures and cortical abnormality measures.
    Research in developmental disabilities 03/2013; 34(5):1678-1688. · 4.41 Impact Factor
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    ABSTRACT: Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.
    Neurogenetics 01/2013; · 3.58 Impact Factor
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    ABSTRACT: OBJECTIVES:The amino acid glutamine has been shown to reduce the number of serious neonatal infections in very preterm children, which may benefit long-term brain development. The aims of the current follow-up study were to (1) determine the long-term effects of glutamine-enriched feeding in the first month after birth in very preterm children on measures of brain development at school age, and (2) elucidate a potential mediating role of serious neonatal infections.METHODS:Fifty-two very preterm children who originally took part in a randomized controlled trial on enteral glutamine supplementation between day 3 and 30 after birth participated at a mean (SD) age of 8.6 (0.3) years. Measures of brain development included volumetric outcomes of major brain structures, as well as fractional anisotropy (FA) values of major white matter tracts.RESULTS:Glutamine supplementation in the first month was associated with medium-sized increases in white matter (d = 0.54, P = .03), hippocampus (d = 0.47, P = .02), and brain stem (d = 0.54, P = .04) volumes at school age. Exploratory analyses using an uncorrected P value indicated higher FA values of the bilateral cingulum hippocampal tract in the glutamine group. All differences were either strongly associated (hippocampus volume, brain stem volume, and FA values of cingulum hippocampal tract) or completely mediated (white matter volume) by the lower number of serious neonatal infections in the glutamine group.CONCLUSIONS:Short-term glutamine supplementation after birth increases white matter, hippocampus, and brain stem volumes in very preterm children at school age, mediated by a decrease in serious neonatal infections.
    PEDIATRICS 10/2012; · 4.47 Impact Factor
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    ABSTRACT: Acquired demyelinating syndromes (ADS) can be a first presentation of multiple sclerosis (MS) in children. The incidence of these disorders in Europe is currently unknown. Children (<18 years old) living in the Netherlands who presented with ADS were included from January 1, 2007 to December 31, 2010 by the Dutch pediatric MS study group and the Dutch surveillance of rare pediatric disorders. Demographic and clinical data were collected. Eighty-six patients were identified over 4 years, resulting in an incidence of 0.66/1,00,000 per year. Most patients presented with polyfocal ADS without encephalopathy (30%), followed by polyfocal ADS with encephalopathy (24%), optic neuritis (ON, 22%), monofocal ADS (16%), transverse myelitis (3%), and neuromyelitis optica (3%). Patients with polyfocal ADS with encephalopathy were younger (median 3.9 years) than patients with ON (median 14.6 years, p < 0.001) or monofocal ADS (median 16.0 years, p < 0.001). Patients with polyfocal ADS without encephalopathy (median 9.2 years) were also younger than monofocal ADS patients (median 16.0 years, p < 0.001). There was a slight female preponderance in all groups except the ON group, and a relatively large number of ADS patients (29%) reported a non-European ancestry. Familial autoimmune diseases were reported in 23%, more often in patients with relapsing disease than monophasic disease (46 vs. 15%, p = 0.002) and occurring most often in the maternal family (84%, p < 0.001). During the study period, 23% of patients were subsequently diagnosed with MS. The annual incidence of ADS in the Netherlands is 0.66/1,00,000 children/year. A polyfocal disease onset of ADS was most common.
    Journal of Neurology 02/2012; 259(9):1929-35. · 3.58 Impact Factor
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    ABSTRACT: The aim of this article was to clarify the impact and consequences of very preterm birth (born <32wks of gestation) and/or very low birthweight ([VLBW], weighing <1500g) on brain volume development throughout childhood and adolescence. The computerized databases PubMed, Web of Knowledge, and EMBASE were searched for studies that reported volumetric outcomes during childhood or adolescence using magnetic resonance imaging and included a term-born comparison group. Fifteen studies were identified, encompassing 818 very preterm/VLBW children and 450 term-born peers. Average reductions in the total brain volume, white matter volume, grey matter volume, and in the size of the cerebellum, hippocampus, and corpus callosum were investigated using meta-analytic methods. Very preterm/VLBW children were found to have a significantly smaller total brain volume than the comparison group (d=-0.58; 95% confidence interval [CI] -0.43 to -0.73; p<0.001), smaller white matter volume (d=-0.53; CI -0.40 to -0.67; p<0.001), smaller grey matter volume (d=-0.62; CI -0.48 to -0.76; p<0.001), smaller cerebellum (d=-0.74; CI -0.56 to -0.92; p<0.001), smaller hippocampus (d=-0.47; CI -0.26 to -0.69; p<0.001), and smaller corpus callosum (d=-0.71; CI -0.34 to -1.07; p<0.001). Reductions have been associated with decreased general cognitive functioning, and no relations with age at assessment were found.   Very preterm/VLBW birth is associated with an overall reduction in brain volume, which becomes evident in equally sized reductions in white and grey matter volumes, as well as in volumes of diverse brain structures throughout childhood and adolescence.
    Developmental Medicine & Child Neurology 01/2012; 54(4):313-23. · 2.68 Impact Factor
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    ABSTRACT: Anticipatory gaze behaviour during interceptive movements was investigated in children with Spastic Unilateral Cerebral Palsy (SUCP), and related to the side of the intracerebral lesion. Five children with lesions of the right hemisphere (RHL) and five children with lesions of the left hemisphere (LHL) had to walk towards and intercept a ball that moved perpendicular to the walking path. Interception accuracy and gaze patterns were measured in a no-occlusion and occlusion condition, in which the ball was occluded from view for half of its trajectory. There was a clear support for a relationship between gaze behaviour and success in interception performance, with some evidence for the presence of anticipatory gaze behaviour. There were also differences in gaze behaviour between children with RHL and children with LHL that might be related to planning, but these did not affect interception accuracy. It is concluded that gaze behaviour during interceptive movements is anticipatory, and at least partly dependent on the lesional side.
    Research in developmental disabilities 01/2012; 33(1):45-53. · 4.41 Impact Factor
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    ABSTRACT: Intrathecal baclofen (ITB) treatment is frequently used for individuals with severe, but non-progressive, spasticity refractory to oral treatment. However, experiences with ITB in patients with progressive neurological disorders of childhood causing spasticity are limited. To investigate whether ITB is an option in patients with progressive neurological disorders causing spasticity in childhood. A systematic literature search in Embase, Pubmed and the Cochrane Library was performed. We identified six eligible studies considering patients with progressive neurological disease in childhood and receiving ITB treatment. The studies included a total of seven paediatric patients and four adult patients. Improvement was reported in spasticity, spasms, pain, gait, activities of daily life and providing care. High satisfaction is described. ITB has beneficial effects in paediatric patients with progressive neurological disease. However, the level of evidence is limited due to the small number of available studies and due to the poor quality of these studies.
    European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 10/2011; 16(3):279-84. · 2.01 Impact Factor
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    ABSTRACT: Familial hemophagocytic lymphohistiocytosis (fHLH) is an autosomal recessive disorder characterized by proliferation and infiltration of several organs by activated lymphocytes and macrophages. Without allogeneic stem cell transplantation, fHLH is fatal. We describe a previously healthy 11-month-old boy with a rapidly progressive encephalopathy. An older brother died at 8 months following a subacute encephalopathy diagnosed as meningoencephalitis. The family history led to the suspicion of a metabolic disease, but metabolic studies were unrevealing. MRI showed multiple inhomogeneous signal abnormalities in the cortex and white matter, most prominent in the cerebral hemispheres and around the dentate nucleus. Gadolinium-enhanced T1-weighted images showed a multitude of enhancing foci, suggestive of perivascular enhancement. Based on MRI pattern with multiple lesions, perivascular enhancement and family history, fHLH was suspected. DNA analysis showed that the patient was compound-heterozygous for the c.445 G>A (p.Gly149Ser) mutation in exon 1 and the c.757 G>A (p.Glu253Lys) mutation in exon 2 of the perforin 1 gene. The patient was treated according to the international HLH-2004 protocol (dexamethasone, etoposide, cyclosporine, intrathecal methotrexate and prednisolone) followed by allogeneic cord blood transplantation. He showed a significant neurological and radiological improvement. The reported case demonstrates that MRI pattern recognition can lead to early diagnosis of fHLH, with subsequent adequate treatment.
    Neuropediatrics 09/2011; 42(5):191-3. · 1.19 Impact Factor

Publication Stats

426 Citations
133.04 Total Impact Points

Institutions

  • 2012–2014
    • VU University Amsterdam
      • Department of Clinical Neuropsychology
      Amsterdamo, North Holland, Netherlands
  • 2003–2013
    • VU University Medical Center
      • Rehabilitation Medicine Clinic
      Amsterdam, North Holland, Netherlands
  • 2011
    • University Children's Hospital Basel
      Bâle, Basel-City, Switzerland