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1.	Abul-Kasim, Kasim, et al. (författare) The Neuroanatomic Localization of Epstein-Barr Virus Encephalitis May Be a Predictive Factor for Its Clinical Outcome: A Case Report and Review of 100 Cases in 28 Reports. 2009 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24, s. 720-726 Tidskriftsartikel (refereegranskat)abstract Encephalitis is one of the manifestations of infection with Epstein-Barr virus with clinical outcome varying from complete recovery to death. A 16-year-old boy with Epstein-Barr virus encephalitis with global cortical and subcortical gray matter involvement and a full clinical recovery is reported. The case inspired a literature review which yielded 100 cases of Epstein-Barr virus encephalitis subjected to radiological investigation and published in 28 reports. Cerebellum and basal ganglia were reported to be equally involved by Epstein-Barr virus infection, next to cerebral hemisphere. Patients with isolated hemispheric gray or white matter involvement were reported to achieve good recovery while almost half of the patients with thalamic involvement developed sequelae. The highest mortality rate was among patients with isolated brain stem involvement. In conclusion, neuroanatomic distribution of the radiological abnormalities in Epstein-Barr virus encephalitis may be useful as a prognostic marker.
2.	Almojuela, A, et al. (författare) The Full Outline of UnResponsiveness (FOUR) Score and Its Use in Outcome Prediction: A Scoping Review of the Pediatric Literature 2019 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 34:4, s. 189-198 Tidskriftsartikel (refereegranskat)abstract The Full Outline of UnResponsiveness (FOUR) score is a neurologic assessment score. Its benefit over pre-existing scores is its evaluation of brainstem reflexes and respiratory pattern. Our goal was to perform a scoping systematic review of the literature on the application of the FOUR score within pediatric patients. Six databases were searched and 2 reviewers independently screened the results. The initial search yielded 1709 citations; ultimately, 6 studies composed of 571 pediatric patients were used. Four studies examined interobserver reliability of the FOUR score and found it to be good to excellent. All 6 studies demonstrated equivalency of the FOUR score and Glasgow Coma Scale (GCS) in predicting outcome. The existing literature suggests the FOUR score is equivalent to GCS in outcome prediction in pediatric patients; its true superiority over the GCS has not yet been established. It displays good to excellent inter-rater reliability among physicians and nurses.
3.	Alpman, A, et al. (författare) Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy 2010 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1485-1490 Tidskriftsartikel (refereegranskat)abstract Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. Haplotype analysis showed no significant association. Compound genotype analysis showed that CC3435/GG2677 was significantly higher in the control group compared to the patient group. In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response.
4.	Autti, Taina, et al. (författare) Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation 1997 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 12:6, s. 369-75 Tidskriftsartikel (refereegranskat)abstract Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were done on the brains of four additional adult patients. Signal intensities determined quantitatively on T2-weighted images differed significantly between patients and controls, being higher from the white matter (P < .0002) and lower from the thalami (P < .03) in the patients. The generally increased signal intensity of the white matter was most obvious in the young patients, with many focal areas of very high signal intensity in the subcortical white matter. The subcortical white matter showed a somewhat increased signal intensity even at the age of 32 years. In two of the four postmortem MR images, the distinction between the gray and white matter was still poor. At histopathologic analysis, the basic cortical cytoarchitecture was generally preserved but most neurons contained vacuoles, which were also found in the neurons of the deep gray matter. In two of the four autopsy cases the white matter showed diffuse pallor of myelin staining and some gliosis. Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.
5.	Babcock, M. A., et al. (författare) Injury to the preterm brain and cerebral palsy: clinical aspects, molecular mechanisms, unanswered questions, and future research directions 2009 Ingår i: J Child Neurol. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 24:9, s. 1064-84 Tidskriftsartikel (refereegranskat)abstract Cerebral palsy will affect nearly 10% of the 60,000 very low-birth-weight infants born in the United States in the next year, and an even greater percentage will display some form of permanent neurological impairment resulting from injury to the preterm brain. The 2008 Neurobiology of Disease in Children Symposium, held in conjunction with the 37th annual meeting of the Child Neurology Society, aimed to define current knowledge and to develop specific aims for future clinical, translational, and fundamental science. A complex interplay of both destructive and developmental forces is responsible for injury to the preterm brain. Advances in imaging and histology have implicated a variety of cell types, though preoligodendrocyte injury remains the focus. Research into different mechanisms of injury is facilitating new neuroprotective and rehabilitative interventions. A cooperative effort is necessary to translate basic research findings into clinically effective therapies and better care for these children.
6.	Beernaert, Kim, et al. (författare) Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy : A Population Survey 2019 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 34:4, s. 210-215 Tidskriftsartikel (refereegranskat)abstract OBJECTIVE:: This study aims to assess the experiences and wishes of parents of children with severe spinal muscular atrophy regarding information and decision-making throughout the course of the illness.STUDY DESIGN:: A full population survey, conducted in 2015, among parents of children with severe spinal muscular atrophy who were born in Denmark between January 1, 2003, and December 31, 2013. We used a study-specific questionnaire with items about experiences and wishes concerning the provision of information about diagnosis, treatment, and end-of-life care.RESULTS:: Among the 47 parents that were identified, 34 parents of 21 children participated. Eleven of them were nonbereaved and 23 were bereaved parents. All parents stated that health care staff did not take any decisions without informing them. A proportion of parents indicated that they were not informed about what spinal muscular atrophy entails (32%), possible treatment options (18%), or the fact that their child would have a short life (26%) or that death was imminent (57%). Most of the bereaved parents who had wishes concerning how and where their child would pass away had their wishes fulfilled.CONCLUSIONS:: The study showed that health care staff did not take treatment decisions without parents being informed. However, there is room for improvement concerning information about what spinal muscular atrophy entails, treatment options, and prognosis. Possibilities of palliative care and advance care planning should be investigated for these parents, their child, and health care staff.
7.	Danfors, T, et al. (författare) Dopaminergic function in autism : Preliminary report of a therapy study with 6-r Tetrahydrobiopterin (THBP) 1999 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 14:5, s. 322-322 Recension (övrigt vetenskapligt/konstnärligt)
8.	Eeg-Olofsson, O, et al. (författare) D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy 2000 Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 15:7, s. 488-492 Tidskriftsartikel (refereegranskat)abstract D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. Cardiomegaly with aortic insufficiency was diagnosed. Magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. Autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process. (J Child Neurol 2000;15:488-492).
9.	FALCK, G, et al. (författare) Brain weight and sudden infant death syndrome 1995 Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:2, s. 123-126 Tidskriftsartikel (refereegranskat)abstract Increased brain weights have been reported in the literature to occur among infants who have died from sudden infant death syndrome, suggesting that cerebral edema might play a role in the cause of death among these children. We have compared brain weights from children between the ages of 1 week and 1 year, autopsied between 1980 and 1992. One group consisted of 125 victims of sudden infant death syndrome and the other of 38 children who had died with a diagnosis other than the sudden infant death syndrome. Brain weights from both groups exceeded the 50th percentile in previously published reference material. We were unable to show any significant differences between the groups in either the ratio between observed and expected brain weights or the ratio between brain weight and body weight. We conclude that there is no evidence for the notion that victims of sudden infant death syndrome have an increased brain weight. Other authors (in previous studies) may have overlooked the low overall weight at gestational age of prematurely born children while collecting data for reference levels. A revision of the figures seems to be necessary. (J Child Neurol 1995;10:123-126).
10.	Georgakis, MK, et al. (författare) Gliomatosis Cerebri Among Children and Adolescents: An Individual-Patient Data Meta-analysis of 182 Patients 2019 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 34:7, s. 394-401 Tidskriftsartikel (refereegranskat)abstract Gliomatosis cerebri is a rare but fatal widespread infiltrating central nervous system tumor. We aimed to describe diagnostic and prognostic features of gliomatosis cerebri among children and adolescents. Methods: We conducted a systematic literature review for published case reports and case series on patients with histologically confirmed gliomatosis cerebri and extracted data on an individual patient level for those aged 0-18 years. Multivariable Cox proportional hazard models were fit for overall survival. Results: Following screening of 274 published studies, 182 gliomatosis cerebri patients (63% males) aged 0-18 years with individual-level data available were identified. The most common presenting symptoms were seizures (52%), focal motor deficits (36%), and headache (30%). Imaging showed bilateral hemisphere involvement in 60%, infratentorial infiltration in 39%, and a focal contrast-enhanced mass (type II gliomatosis cerebri) in 27% of cases. Anaplastic astrocytoma was the most common histologic subtype of pediatric gliomatosis cerebri, whereas MGMT promoter methylation, IDH1 mutations, and codeletion of 1p/19q were less common molecular aberrations, as compared to adult gliomatosis cerebri. In the multivariable analyses, age at diagnosis >4 years, extended central nervous system infiltration, coordination abnormalities, and cognitive decline were predictors of worse outcome. Conversely, IDH1 mutations were associated with prolonged overall survival. Chemotherapy and extended surgical resection were associated with improved outcome, whereas radiotherapy was not associated with overall survival and was inferior to chemotherapy alone. Conclusion: Gliomatosis cerebri among children and adolescents presents distinct histopathologic and molecular features compared to adults. However, similar associations of chemotherapy, and, when feasible, extended surgical resection, with favorable outcomes were noted among the 2 age groups.
11.	Green, Dido, et al. (författare) Sensory Processing Difficulties in Opsoclonus-Myoclonus Syndrome 2016 Ingår i: Journal of Child Neurology. - : Sage Publications. - 0883-0738 .- 1708-8283. ; 31:8, s. 965-970 Tidskriftsartikel (refereegranskat)abstract Opsoclonus-myoclonus syndrome is a rare but serious neurological condition resulting in loss of control of eye movements, often accompanied by difficulties in posture and movement control with reports of sensory sensitivities potentially impacting on behavior. This pilot study characterizes the presence of atypical sensory behaviors in opsoclonus-myoclonus syndrome through questionnaire survey of a cohort of families. The Short Sensory Profile, Vineland Adaptive Behavior Scale, and Developmental Behaviour Checklist were distributed to 30 families; 16 were returned anonymously. Atypical sensory behaviors were identified in a large proportion (62.5%). Children reported as being more anxious showed greater sensitivity to auditory stimuli, U(14) 11, P =.026. This is consistent with recent recognition of more extensive disease neurocognitive effects in Opsoclonus-myoclonus syndrome. Further research is needed to increase understanding of the complex pathology of this disease and to provide indicators for sensory and behavioral as well as pharmacological interventions.
12.	Hagberg, Bengt, 1923 (författare) A personal autobiography. 2008 Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 23:6, s. 669-73 Tidskriftsartikel (refereegranskat)
13.	Hagberg, Henrik, 1955, et al. (författare) Apoptotic mechanisms in the immature brain: involvement of mitochondria. 2009 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24:9, s. 1141-6 Forskningsöversikt (refereegranskat)abstract Brain injury after hypoxic-ischemic encephalopathy often develops with delayed appearance, opening a therapeutic window. Clinical studies in newborns show that post-hypoxic-ischemic hypothermia improves outcome. This has generated renewed interest in the molecular mechanisms of hypoxic-ischemic brain injury. In this brief review, we propose that mitochondrial permeabilization is crucial for injury to advance beyond the point of no return. We suggest that excitatory amino acids, nitric oxide, inflammation, trophic factor withdrawal, and an increased pro- versus antiapoptotic Bcl-2 protein ratio will trigger Bax-dependent mitochondrial outer membrane permeabilization. Mitochondrial outer membrane permeabilization, in turn, elicits mitochondrial release of cytochrome C, apoptosis-inducing factor, second mitochondria-derived activator of caspase/Diablo, and HtrA2/Omi. Cytochrome C efflux activates caspase-9/-3, leading to DNA fragmentation. Apoptosis-inducing factor interacts with cyclophilin A and induces chromatinolysis. Blockage of mitochondrial outer membrane permeabilization holds promise as a strategy for perinatal brain protection.
14.	Hjorth, Elin, et al. (författare) Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved 2019 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 34:2, s. 104-112 Tidskriftsartikel (refereegranskat)abstract BACKGROUND AND AIMS:: Children with severe spinal muscular atrophy have complex care needs due to progressive muscle weakness, eventually leading to respiratory failure. To design a care system adapted to families' needs, more knowledge about parents' experience of care and its coordination between settings is required. This study explores (1) whether parents felt that health professionals took every opportunity to help the child feel as good as possible, (2) parents' satisfaction with various care settings, and (3) parents' satisfaction with coordination between settings.METHODS:: Data derive from nationwide Swedish and Danish surveys of bereaved and nonbereaved parents of children with severe spinal muscular atrophy born between 2000 and 2010 in Sweden and 2003 and 2013 in Denmark (N = 95, response rate = 84%). Descriptive statistics and content analysis were used.RESULTS:: Although most of the parents reported that care professionals had taken every opportunity to help the child feel as good as possible, one-third reported the opposite. Bereaved parents were significantly more satisfied with care than nonbereaved (81% vs 29%). The children received care at many different locations, for all of which parents rated high satisfaction. However, some were dissatisfied with care coordination, describing lack of knowledge and communication among staff, and how they as parents had to take the initiative in care management.CONCLUSIONS:: This study highlights the importance of improving disease-specific competence, communication and knowledge exchange among staff. For optimal care for these children and families, parents should be included in dialogues on care and staff should be more proactive and take care management initiatives.
15.	Horsch, S, et al. (författare) Late germinal matrix hemorrhage-like lesions in very preterm infants 2010 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:7, s. 809-814 Tidskriftsartikel (refereegranskat)abstract In preterm infants, the germinal matrix is a common origin of hemorrhages during the first 7 days of life. Sonographically, germinal matrix hemorrhages present as subventricular echodensities evolving into pseudocysts. Similar lesions have been reported as incidental findings also beyond 7 days of life. They may result from vasculitis and ischemic infarction, rather than hemorrhage. To assess the occurrence, time course, and significance for neurodevelopment of such late germinal matrix hemorrhage-like lesions, we reviewed serial cerebral ultrasound examinations obtained in 86 sequentially admitted infants (gestational age <32 weeks or birth weight <1500 g). Neurodevelopment was assessed at 3 years (Bayley Scales of Infant Development). Nine infants had late isolated germinal matrix hemorrhage-like lesions. Their Psychomotor Development Index scores were significantly lower than that in infants without hemorrhage. Our results suggest that late isolated germinal matrix hemorrhage-like lesions are of clinical significance because of their notable incidence and association with neurodevelopmental outcome.
16.	Li, L, et al. (författare) Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB 2016 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 31:5, s. 613-620 Tidskriftsartikel (refereegranskat)abstract Focal cortical dysplasia type IIB is a commonly encountered subtype of developmental malformation of the cerebral cortex and is often associated with pharmacoresistant epilepsy. In this study, to investigate the molecular etiology of focal cortical dysplasia type IIB, the authors performed micro ribonucleic acid (RNA) microarray on surgical specimens from 5 children (2 female and 3 male, mean age was 73.4 months, range 50-112 months) diagnosed of focal cortical dysplasia type IIB and matched normal tissue adjacent to the lesion. In all, 24 micro RNAs were differentially expressed in focal cortical dysplasia type IIB, and the microarray results were validated using quantitative real-time polymerase chain reaction (PCR). Then the putative target genes of the differentially expressed micro RNAs were identified by bioinformatics analysis. Moreover, biological significance of the target genes was evaluated by investigating the pathways in which the genes were enriched, and the Hippo signaling pathway was proposed to be highly related with the pathogenesis of focal cortical dysplasia type IIB.
17.	Lidström, Åsa, et al. (författare) Intrarater and interrater reliability of Myotonometer measurements of muscle tone in children 2009 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 24:3, s. 267-274 Tidskriftsartikel (refereegranskat)abstract The aim of this study was to investigate reliability of Myotonometer measurements, by assessing muscle tone in muscle rectus femoris in children with cerebral palsy and children without disabilities. Differences in muscle tone between groups and conditions, contracted or relaxed, were also investigated. A total of 15 children with cerebral palsy and 15 children without disabilities participated. Intrarater reliability of Myotonometer measurements showed high to very high intraclass correlation, under both conditions and in both groups. Interrater reliability showed high to very high intraclass correlation under both conditions in the control group and in the cerebral palsy group under contracted condition and moderate under relaxed condition. There were slight differences in tissue displacement between groups, although not statistically significant. Myotonometer measurements are reliable when assessing muscle tone in children. However, there is still a need to investigate this method for objectively quantifying increased muscle tone in children with cerebral palsy.
18.	MacLennan, Alastair H, et al. (författare) Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. 2019 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 38:4, s. 472-6 Tidskriftsartikel (refereegranskat)abstract High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as "cerebral palsy." This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology.
19.	Mollberg, Margareta, 1953, et al. (författare) Comparison in obstetric management on infants with transient and persistent obstetric brachial plexus palsy. 2008 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 23:12, s. 1424-32 Tidskriftsartikel (refereegranskat)abstract The outcome of obstetric brachial plexus palsy depends on the severity of the lesion of the nerve fibers. The aim of the prospective study is to evaluate if differences in force used in downward traction on the fetal head correlate to the number of nerve roots affected. At final neurological examination at 18 months of age, complete neurological recovery occurred in 80 of 98 children (82%). Downward traction of the fetal head was applied more often and with greater force in the group with persistent damage. There was a significant correlation between the force used to the number of nerve roots affected. The risk of persistent obstetric brachial plexus palsy at age 18 months depended on obstetric management and increased significantly with increasing force used in downward traction of the fetal head.
20.	Nordgarden, Hilde, et al. (författare) Are Botulinum Toxin Injections Into the Major Salivary Glands a Good Treatment Option? 2012 Ingår i: Journal of Child Neurology. - : Sage Publications. - 0883-0738 .- 1708-8283. ; 27:4, s. 458-464 Tidskriftsartikel (refereegranskat)abstract There are several treatment options available for drooling; botulinum toxin injections into the major salivary glands are one. There is no consensus as to how many and which glands should be injected. A research project on this topic was terminated because of adverse effects. Individual results and the adverse effects are described and discussed in this article. Six individuals with cerebral palsy were randomly allocated to 2 treatment groups, with five individuals receiving ultrasound-guided injections to parotid and submandibular glands and one receiving injections to the submandibular glands only. Reduction of observed drooling was registered in 3, while 4 patients reported subjective improvement (Visual Analog Scale). Two participants reported adverse effects, including dysphagia, dysarthria, and increased salivary viscosity. Injections with botulinum toxin can be a useful treatment option but there is a risk of adverse effects. Multidisciplinary evaluation and informed discussions with patients/caregivers are important factors in the decision-making process.
21.	Rajaei, Saideh, et al. (författare) Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis. 2011 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 26:1, s. 65-71 Tidskriftsartikel (refereegranskat)abstract The early infantile onset ''congenital'' variant of Rett syndrome presents with deviations of behavior from very early infancy. Here, we report on a clinical-genetic study in a collected series of 14 Swedish girls with early infantile onset Rett syndrome phenotype. The clinical diagnosis was based on symptom onset before the age of 6 months and the patients fulfilled 3 or more Rett variant criteria and 5 or more supportive criteria. Genotype-phenotype correlation studies in the CDKL5-gene have recently shown clinical associations to early infantile onset Rett variants. Mutation analyses for both the MECP2-gene and the CDKL5-gene were, therefore, performed. Of interest, we found a large deletion covering 2 exons in MECP2, which underlines the importance of MECP2 mutation screening even for the ''atypical'' early infantile onset variants of Rett syndrome. No early infantile onset Rett syndrome patients in this study had the previously well-known hotspot mutations in the MECP2-gene.
22.	Rosenbaum, Peter, et al. (författare) Classification in childhood disability : focusing on function in the 21st century 2014 Ingår i: Journal of Child Neurology. - : B.C. Decker. - 0883-0738 .- 1708-8283. ; 29:8, s. 1036-1045 Forskningsöversikt (refereegranskat)abstract Classification systems in health care are usually based on current understanding of the condition. They are often derived empirically and adopted applying sound principles of measurement science to assess whether they are reliable (consistent) and valid (true) for the purposes to which they are applied. In the past 15 years, the authors have developed and validated classification systems for specific aspects of everyday function in people with cerebral palsy--gross motor function, manual abilities, and communicative function. This article describes the approaches used to conceptualize each aspect of function, develop the tools, and assess their reliability and validity. We report on the utility of each system with respect to clinical applicability, use of these tools for research, and the uptake and impact that they have had around the world. We hope that readers will find these accounts interesting, relevant, and applicable to their daily work with children and youth with disabilities.
23.	Sakzewski, Leanne, et al. (författare) The state of the evidence for intensive upper limb therapy approaches for children with unilateral cerebral palsy 2014 Ingår i: Journal of Child Neurology. - : B.C. Decker. - 0883-0738 .- 1708-8283. ; 29:8, s. 1077-1090 Forskningsöversikt (refereegranskat)abstract Children with unilateral cerebral palsy experience difficulties with unimanual and bimanual upper limb function, impacting independence in daily life. Targeted upper limb therapies such as constraint-induced movement therapy, bimanual training, and combined approaches have emerged in the last decade. This article reviews the scientific rationale underpinning these treatments and current evidence to improve upper limb outcomes and goal attainment. Intensive models of therapy achieved modest to strong effects to improve upper limb function compared to usual care. Dose-matched comparisons of bimanual and unimanual training demonstrated similar gains in upper limb outcomes. The optimum timing, dose and impact of repeat episodes of intensive upper limb therapies require further investigation. Characteristics of children who achieve clinically meaningful outcomes remain unclear. Key components of intervention include collaborative goal setting with families and intensive repetitive, incrementally challenging, task practice. Choice of treatment approach should be governed by child/family goals and preferences, individual, and contextual factors.
24.	Schertz, M., et al. (författare) Long-term neurodevelopmental follow-up of children with congenital muscular torticollis 2013 Ingår i: Journal of Child Neurology. - : Sage Publications. - 0883-0738 .- 1708-8283. ; 28:10, s. 1215-1221 Tidskriftsartikel (refereegranskat)abstract Congenital muscular torticollis is a common condition, but long-term neurodevelopmental follow-up is lacking. This study reports on neurodevelopmental outcome of 68 children, aged 7 to 9 years, with a history of congenital muscular torticollis, excluding children with torticollis due to other conditions. Thirty-eight children were examined for presence of neurodevelopmental disorders. Telephone interview data were available for an additional 30 children. Of those examined, 22/38 (57.9%) had or were at risk for a developmental disorder (attention-deficit hyperactivity disorder (ADHD), developmental coordination disorder, language impairment, autistic spectrum disorder) on at least 1 of the assessments administered, 23/38 (60.5%) had received developmental treatment during childhood. One child, based on a telephone interview, had a history of developmental treatment. Therefore, 30/68 (44.1%) children of the total sample demonstrated a developmental delay/disorder, currently (22/68) or previously (8/68). Our findings suggest congenital muscular torticollis to be a significant risk factor for later neurodevelopmental conditions with disorders presenting at different stages of development.
25.	Shi, KL, et al. (författare) Role of TNF-alpha gene variation in idiopathic childhood ischemic stroke: a case-control study 2009 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24:1, s. 25-29 Tidskriftsartikel (refereegranskat)abstract Etiology of the idiopathic childhood stroke remains unknown. In previous studies, the immunologic process may be involved in the idiopathic stroke. Tumor necrosis factor— alpha (TNF-α), an important immune mediator, may contribute to the initiation and progression in the stroke. The main purpose of this study was to investigate correlation of TNF-α genetic variation and idiopathic childhood ischemic stroke. Using the direct DNA sequencing method, polymorphisms in the TNF-α promoter region were genotyped in 67 Chinese patients with idiopathic childhood stroke and 70 controls. Among totally 7 single nucleotide polymorphisms identified in the TNF-α promoter region, the variant of the -863C/A is associated with increased risk of idiopathic childhood ischemic stroke in our study group. TNF-α molecule may have genetically as well as functionally an important role in the pathogenesis of idiopathic childhood ischemic stroke in the Chinese population.
26.	Sofou, Kalliopi, et al. (författare) Management of Prolonged Seizures and Status Epilepticus in Childhood: A Systematic Review. 2009 Ingår i: J Child Neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24:3, s. 918-26 Forskningsöversikt (refereegranskat)abstract Pediatric prolonged seizures and status epilepticus are medical emergencies necessitating immediate life-support and seizure-control measures. A systematic review of published data on the management of prolonged seizures and status epilepticus showed that buccal midazolam was significantly more effective than rectal diazepam, reaching a seizure- control rate of 70% and recurrence rate of 8%. Intranasal lorazepam was as effective as intramuscular paraldehyde in a cost-restrained setting. In refractory status epilepticus, both intravenous midazolam and valproate were equally effective to intravenous diazepam, with valproate exhibiting significantly faster seizure cessation and safer profile than diazepam, even in infancy. In conclusion, buccal midazolam is efficacious and safe thanks to its convenient route of administration, which may serve as first-line in the treatment of prolonged seizures. Intranasal lorazepam is an effective, easy-to-use, and safe drug for prolonged seizures. Intravenous valproate exhibits favorable efficacy and safety profile as third-line in status epilepticus, refractory to diazepam and phenytoin.
27.	Sofou, Kalliopi (författare) Mitochondrial Disease: A Challenge for the Caregiver, the Family, and Society 2013 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 28:5, s. 663-667 Tidskriftsartikel (refereegranskat)abstract Mitochondrial diseases represent a genetically and clinically heterogeneous group of inherited metabolic disorders, often resulting in poor functional and survival outcomes for the patient and considerable psychosocial distress for the caregiver. The systematic review undertaken in the present paper emphasizes the critical role of the caregiver in the management of a child with mitochondrial disease, with focus on the burden of mitochondrial disease on the caregiver, the family, and society.
28.	Vanhala, Raija, et al. (författare) Neurotrophic factors in cerebrospinal fluid and serum of patients with Rett syndrome 1998 Ingår i: Journal of Child Neurology. - Univ Helsinki, Hosp Children & Adolescents, Unit Child Neurol, Helsinki, Finland. Uppsala Univ, Ctr Biomed, Dept Dev Neurosci, Uppsala, Sweden. Univ Helsinki, Inst Biotechnol, Helsinki, Finland. Univ Kuopio, Childrens Hosp, Dept Child Neurol, FIN-70211 Kuopio, Finland. : Sage Publications. - 0883-0738 .- 1708-8283. ; 13:9, s. 429-433 Tidskriftsartikel (refereegranskat)abstract Rett syndrome is now considered to be a neurodevelopmental disease. Its cause is unknown, but it has been suggested that neuronal growth factors and neurotransmitters play important roles. We measured levels of brain-derived neurotropic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid, and nerve growth factor and brain-derived neurotrophic factor in serum in child and adolescent patients with Rett syndrome. Levels of brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid were below the limit of sensitivity of the methods used. Serum levels of nerve growth factor and brain-derived neurotrophic factor did not differ from control values. In Rett syndrome, the normal serum levels of nerve growth factor together and previously reported low levels of the factor in cerebrospinal fluid indicate that the latter may reflect low levels of nerve growth factor in the central nervous system.
29.	Vanhanen, Sanna-Leena, et al. (författare) MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis : Part 1: Postmortem MRI with histopathologic correlation 1995 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:6, s. 438-43 Tidskriftsartikel (refereegranskat)abstract The purpose of this study was to correlate postmortem magnetic resonance imaging (MRI) with histopathologic findings in brains of a series of autopsied patients with infantile neuronal ceroid-lipofuscinosis, a recessively inherited progressive encephalopathy. Eight formalin-fixed brains (age range at death, 7 to 13 years) were examined with MRI. One patient had also undergone brain MRI 2 years before death. Histopathologic analyses were made from standard areas selected on the basis of the MRI scans. Postmortem MRI findings did not differ significantly from the findings in the patient who was also examined during life. Typical findings were extreme cerebral atrophy and hypointensity of the gray-matter structures in relation to the white matter on T2-weighted images, a pattern the reverse of normal. Characteristic histologic findings were almost complete loss of cortical neurons and secondary loss of axons and myelin sheaths in the white matter. The drastically altered relative intensities of the gray- and white-matter structures on the MRI scans reflected replacement of the neurons with hypertrophic astrocytes and/or macrophages filled with storage material.
30.	Vanhanen, Sanna-Leena, et al. (författare) MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis : Part 2: MRI findings in 21 patients 1995 Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:6, s. 444-50 Tidskriftsartikel (refereegranskat)abstract The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The images were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable before clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early stage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, and the signal intensity of the entire white matter was higher than that of the gray matter, which is the reverse of normal. This study showed that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical and histopathologic pictures of infantile neuronal ceroid-lipofuscinosis.
31.	Wang, CH, et al. (författare) Consensus statement on standard of care for congenital muscular dystrophies 2010 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1559-1581 Tidskriftsartikel (refereegranskat)abstract Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.
32.	Wang, CH, et al. (författare) Consensus statement on standard of care for congenital myopathies 2012 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 27:3, s. 363-382 Tidskriftsartikel (refereegranskat)abstract Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
33.	Wang, Xiaoyang, 1965, et al. (författare) White matter damage after chronic subclinical inflammation in newborn mice. 2009 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 24:9, s. 1171-8 Tidskriftsartikel (refereegranskat)abstract Preterm infants exposed to inflammation are at increased risk of white matter injury and/or cerebral palsy. To investigate the effect of chronic inflammation on the developing white matter, we administered low-dose lipopolysaccharide once a day from postnatal days 3 to 11, examined white matter changes at postnatal day 12, and monitored serum levels of insulin-like growth factor 1 and insulin-like factor binding protein-3. A single injection of lipopolysaccharide decreased the serum insulin-like growth factor 1 level but not the insulin-like factor binding protein-3 level. At postnatal day 12, quantification of immunohistochemical staining for axonal, myelin, and oligodendrocyte markers revealed impaired myelination in subcortical white matter. In addition, brain gray matter volume decreased and spleen and liver weight increased at postnatal day 12. These data suggest chronic subclinical inflammation hampers development of white and gray matter in early life, which may be associated with insulin-like growth factor 1 deficiency.
34.	Ygberg, S, et al. (författare) Cytokine and Chemokine Expression in CSF May Differentiate Viral and Autoimmune NMDAR Encephalitis in Children 2016 Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 31:13, s. 1450-1456 Tidskriftsartikel (refereegranskat)abstract Childhood encephalitis is a potentially devastating condition with significant morbidity and mortality. Researchers currently lack biomarkers for differentiating infectious encephalitis from those with autoimmune causes which may delay adequate treatment. The authors studied the possibility of using cerebrospinal fluid cytokine and chemokine levels for this purpose. Children admitted to hospital care fulfilling criteria for encephalitis were prospectively included. Children who underwent lumbar puncture but were not classified as central nervous system infections served as controls. Cytokine and chemokine levels in the cerebrospinal fluid obtained upon initial presentation were analyzed using Luminex technology. In children with infectious encephalitis (n = 13), the cerebrospinal fluid displayed markedly elevated mean levels of IL6, IL7, and IL13 as compared to N-methyl-D-aspartate receptor (NMDAR) encephalitis (n = 4) and controls (n = 13). The expression of IL6 appeared to precede that of IL13. Analysis of selected cerebrospinal fluid cytokines may thus allow differential diagnosis of infectious and NMDAR encephalitis already at the initial lumbar puncture and enable immediate therapy.
35.	Erlandson, Anna, et al. (författare) MECP2 abnormality phenotypes: clinicopathologic area with broad variability 2005 Ingår i: J Child Neurol. - 0883-0738. ; 20:9, s. 727-32 Tidskriftsartikel (refereegranskat)abstract Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize the clinical picture of deviations in MECP2 at this moment to obtain a comprehensive overview. Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the right, the most mildly affected subgroup, female asymptomatic carriers. In the center, with dominant numbers, we have placed classic Rett syndrome presentations, together with the late-onset Rett syndrome variant and preserved speech variant. In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations.
36.	Hagberg, Bengt, 1923 (författare) Rett syndrome: long-term clinical follow-up experiences over four decades 2005 Ingår i: J Child Neurol. - 0883-0738. ; 20:9, s. 722-7 Tidskriftsartikel (refereegranskat)abstract Long-term clinical profiles of female patients with classic Rett syndrome are presented and exemplified by three cases, as experienced over four decades. Emphasized is the frequently surprisingly well-preserved eye contact and primitive memory, in contrast to a premature neuromuscular aging and often advanced peripheral atrophy, usually combined with dystonic-rigid signs that are predominantly right sided.
37.	Svedin, Pernilla, 1979, et al. (författare) Maturational effects of lipopolysaccharide on white-matter injury in fetal sheep. 2005 Ingår i: Journal of child neurology. - 0883-0738. ; 20:12, s. 960-4 Tidskriftsartikel (refereegranskat)abstract White-matter damage has been associated with the development of cerebral palsy in children born both prematurely and at term, and it has been suggested that intrauterine infection can contribute to the brain injury. However, the relative importance of age on white-matter injury following infectious exposure in utero remains unclear. In this study, fetal sheep were exposed to systemic endotoxemia by administration of Escherichia coli lipopolysaccharide (88.7 +/- 7.7 ng/kg) at 65% or 85% of gestation. These gestational ages approximately correspond to human brain development in preterm and near-term infants respectively. White-matter injury was evaluated 3 days after lipopolysaccharide exposure with regard to microglia activation and loss of neurofilament and myelin basic protein. The expression of oligodendrocytes at different maturational stages was demonstrated in preterm and near-term fetuses with the oligodendroglial markers O4 and 2 ,3 -cyclic nucleotide 3 -phospodiesterase. Forty percent of the fetuses in the preterm group and 22% in the near-term group died within 8 hours of the endotoxin exposure. Three of six preterm and two of seven near-term surviving fetuses demonstrated pathologic changes in the brain with regard to increased microglia activation and loss of neurofilament staining. The number of activated microglia was enhanced in the subcortical white matter in both the preterm lipopolysaccharide-exposed fetuses (lipopolysaccharide: 235 +/- 64 cells/mm2; control: 72 +/- 28 cells/mm2; P = .0374) and the near-term fetuses (lipopolysaccharide: 180 +/- 40 cells/mm2; control 23 +/- 16 cells/mm2; P = .0152). There was a loss of neurofilament staining in both preterm fetuses (lipopolysaccharide: 2.20 +/- 0.77 pixel units; control: 0.20 +/- 0.10 pixel units; P = .0306) and near-term fetuses (lipopolysaccharide: 1.15 +/- 0.48 pixel units; control: 0.06 +/- 0.06 pixel units; P = .0285). O4-positive cells were detected at both gestational ages, whereas 2,3-cyclic nucleotide 3-phospodiesterase-positive cells and myelin basic protein staining were mainly detected in the near-term fetuses. In summary, we found white-matter injury in a proportion of both preterm and near-term fetuses after administration of lipopolysaccharide. These results are in agreement with clinical evidence suggesting that both preterm and term infants are at risk of periventricular leukomalacia in association with intrauterine infection.
38.	Turnbull, Julie, et al. (författare) Lafora progressive myoclonus epilepsy : disease course homogeneity in a genetic isolate. 2008 Ingår i: J Child Neurol. - 0883-0738. ; 23:2, s. 240-2 Tidskriftsartikel (refereegranskat)

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