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ABSTRACT: This study investigated whether children aged between 8 and 12 years born very preterm (VPT) and/or at very low birth weight (VLBW) performed lower than same-aged term-born controls in cognitive and behavioral aspects of three executive functions: inhibition, working memory, and shifting. Special attention was given to sex differences. Fifty-two VPT/VLBW children (26 girls, 50%) born in the cohort of 1998-2003 and 36 same-aged term-born children (18 girls, 50%) were recruited. As cognitive measures, children completed tasks of inhibition (Color-Word Interference Test, D-KEFS; Delis, Kaplan, & Kramer, 2001 ), working memory (digit span backwards, HAWIK-IV; Petermann & Petermann, 2008 ), and shifting (Trail Making Test, number-letter-switching, D-KEFS; Delis et al., 2001 ). As behavioral measures, mothers completed the Behavior Rating Inventory of Executive Function (BRIEF; Gioia, Isquith, Guy, & Kenworthy, 2000 ). Scales of interest were inhibit, working memory, and shift. Analyses of the cognitive aspects of executive functions revealed that VPT/VLBW children performed significantly lower than controls in the shifting task but not in the working memory and inhibition tasks. Analyses of behavioral aspects of executive functions revealed that VPT/VLBW children displayed more problems than the controls in working memory in everyday life but not in inhibition and shifting. No sex differences could be detected either in cognitive or behavioral aspects of executive functions. To conclude, cognitive and behavioral measures of executive functions were not congruent in VPT/VLBW children. In clinical practice, the combination of cognitive and behavioral instruments is required to disclose children's executive difficulties.
Child Neuropsychology 03/2013; · 1.80 Impact Factor
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ABSTRACT: Mild encephalopathy with reversible splenial lesions has mainly been associated with influenza A and B virus infection. Patients present with neurologic symptoms 1 to 3 days after a prodromal illness and recover completely within a few days. Magnetic resonance imaging typically shows reversible lesions with reduced diffusion in the corpus callosum, predominantly in the splenium. We report on a 5-year old Caucasian boy who was referred with recurrent seizures and decreased level of consciousness after a 2-day prodromal fever and cough. Magnetic resonance imaging showed cytotoxic edema of the entire corpus callosum and the adjacent periventricular white matter with diffusion restriction and faint T(2)-hyperintensity. Parainfluenza virus type 1-3 infection was documented by direct immunofluorescence in the initial nasopharyngeal swab, but polymerase chain reaction for parainfluenza virus type 1-4 in the cerebrospinal fluid remained negative. This is-to our knowledge-the first description of mild encephalopathy with reversible splenial lesions in association with parainfluenza virus infection. The pathogenesis of mild encephalopathy with reversible splenial lesions, however, still remains unclear, and further studies investigating detailed mechanisms that lead to the typical brain lesions are warranted.
Pediatric Neurology 03/2013; 48(3):252-4. · 1.52 Impact Factor
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Developmental Medicine & Child Neurology 01/2013; · 2.92 Impact Factor
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ABSTRACT: PURPOSE: Benign epilepsy with centrotemporal spikes (BECTS) is associated with mild cognitive deficits, especially language impairment. This study aimed to clarify whether children with BECTS with left- or right-hemispheric, or bilateral focus have specific neuropsychological language deficits when compared to healthy controls, whether these deficits correlate functionally with language network organization (typical vs. atypical), and whether cofactors such as duration, handedness, and medication have a relevant impact on language reorganization processes. METHODS: Twenty-seven patients and 19 healthy controls were examined with several neuropsychological tests (German version of the Wechsler Intelligence Scale for Children [WISC-IV], Regensburger verbal fluency test [RWT], Corsiblock forward and backward and Hand-Dominanz-Test [HDT]) and with two language paradigms on functional magnetic resonance imaging (fMRI): silent reading of word-pairs and silent generation of simple sentences. KEY FINDINGS: Although neuropsychological test results only differed by trend between BECTS patients and controls, language laterality indices (LIs) in fMRI were significantly lower in patients than in controls. In particular, the anterior language network with Broca's area and the supplementary motor area (SMA) revealed the lowest LIs and showed the most bilateral or right hemispheric activations in the sentence generation task. Medication and duration of epilepsy did not have any significant effect on language reorganization and patients' performances. SIGNIFICANCE: Language reorganization in BECTS patients takes place in bilateral or right hemispheric language networks, with a strong focus in anterior language regions. These functional changes can be interpreted as important compensatory strategies of the central nervous system (CNS) to stabilize cognitive, especially language performance.
Epilepsia 01/2013; · 3.96 Impact Factor
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ABSTRACT: This cross-sectional study examined the performance of children born very preterm and/or at very low birth weight (VPT/VLBW) and same-aged term-born controls in three core executive functions: inhibition, working memory, and shifting. Children were divided into two age groups according to the median (young, 8.00-9.86 years; old, 9.87-12.99 years). The aims of the study were to investigate whether (a) VPT/VLBW children of both age groups performed poorer than controls (deficit hypothesis) or caught up with increasing age (delay hypothesis) and (b) whether VPT/VLBW children displayed a similar pattern of performance increase in executive functions with advancing age compared with the controls. Fifty-six VPT/VLBW children born in the cohort of 1998-2003 and 41 healthy-term-born controls were recruited. All children completed tests of inhibition (Color-Word Interference Task, Delis-Kaplan Executive Function System (D-KEFS)), working memory (Digit Span Backwards, HAWIK-IV), and shifting (Trail Making Test, Number-Letter Sequencing, D-KEFS). Results revealed that young VPT/VLBW children performed significantly poorer than the young controls in inhibition, working memory, and shifting, whereas old VPT/VLBW children performed similar to the old controls across all three executive functions. Furthermore, the frequencies of impairment in inhibition, working memory and shifting were higher in the young VPT/VLBW group compared with the young control group, whereas frequencies of impairment were equal in the old groups. In both VPT/VLBW children and controls, the highest increase in executive performance across the ages of 8 to 12 years was observed in shifting, followed by working memory, and inhibition. Conclusions: This study provides evidence that (a) poor performance in inhibition, working memory, and shifting of young VPT/VLBW children might reflect a delay rather than a deficit and (b) that VPT/VLBW children are likely to display a similar pattern of performance increase in these three executive functions compared with that of controls.
European Journal of Pediatrics 12/2012; · 1.88 Impact Factor
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ABSTRACT: Aim Little is known about basilar artery stroke (BAS) in children. The objective of this study was to calculate the incidence of BAS in children and to analyse the clinical presentation, risk factors, radiological findings, therapeutic approaches, and outcome of BAS in childhood. Method A prospective, population-based study including children with arterial ischaemic stroke and a systematic review of the literature was undertaken. Results Seven children with BAS were registered at the Swiss Neuropaediatric Stroke Registry between January 2000 and June 2011 (incidence 0.037 per 100 000 children per year, 95% confidence interval [CI] 0.013-0.080). A further 90 cases were identified through the literature search. The majority of patients were male (73 males, 24 females) and the median age was 9 years (interquartile range [IQR]=6-13y). The median Pediatric National Institutes of Health Stroke Scale (PedNIHSS) score was 15 (IQR=4-27). Presenting signs and symptoms comprised impaired consciousness (n=64), quadri- or hemiparesis (n=58), bulbar dysfunction (n=46), vomiting, nausea (n=43), and headache (n=41). Prodromes occurred in 43% of cases. Aetiology was largely vasculopathic (n=38), but often unknown (n=40). Time to diagnosis varied from hours days; six patients received antithrombotic, thrombolytic, or mechanical endovascular treatment 12 hours or less after symptom onset. Outcome was good (modified Rankin Scale 0-2) in 45 patients; eight died. PedNIHSS score of up to 17 was a prognostic factor for good outcome. Interpretation BAS is rare in children. Compared with adults, outcome is more favourable despite a considerable delay in diagnosis and treatment. Outcome was better in children with a PedNIHSS score of 17 or less.
Developmental Medicine & Child Neurology 11/2012; · 2.92 Impact Factor
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Developmental Medicine & Child Neurology 10/2012; · 2.92 Impact Factor
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ABSTRACT: BACKGROUND: Spinal cord ischaemia is rare in childhood and information on clinical presentation and outcome is scarce. METHODS: This is a retrospective analysis of eight patients and 75 additional cases from the literature. Data search included: patient's age, primary manifestation, risk factors, neuroimaging and outcome. RESULTS: Five female and three male patients gave consent to participate. Mean age was 12.5 years (10-15 years). Six patients presented with paraplegia; this was preceded by pain in four. Brown Sequard syndrome and quadriparesis were the two others' presenting condition. Sensation levels were thoracolumbar in seven cases. Bladder dysfunction only or bladder and bowel dysfunction were reported in eight and five patients respectively. Time to maximal symptom manifestation was <12 h in 7/8. Risk factors included surgery, minor trauma, recent infection, and thrombophilia. Mean follow-up was 3.3 years (0.25-6.3 years). Three patients remained wheelchair-dependent and three patients were ambulatory without aid. Bladder function recovered fully in five children. Most affected aspects of quality of life were physical and mental well-being and self-perception. T2-weighted-MR images showed pencil-like hyperintensity (8/8) in sagittal and H-shaped or snake-eyes-like lesion (6/8) in axial views. Analyses of all 83 patients were in congruence with the above results of the study group. CONCLUSION: Spinal cord ischaemia in childhood presenting with pain, paraplegia, and bladder dysfunction has high morbidity concerning motor problems and quality of life. Acute arterial ischaemic event in children seems similar to adult events with respect to clinical presentation and, surprisingly, also in outcome.
European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society 10/2012; · 2.01 Impact Factor
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Johannes R Lemke,
Erik Riesch,
Tim Scheurenbrand,
Max Schubach,
Christian Wilhelm,
Isabelle Steiner,
Jörg Hansen,
Carolina Courage,
Sabina Gallati,
Sarah Bürki, [......],
Maya Lakshminarasimhan,
Judith Kröll,
Thomas Dorn,
Günter Krämer,
Matthis Synofzik,
Felicitas Becker,
Yvonne G Weber,
Holger Lerche,
Detlef Böhm,
Saskia Biskup
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ABSTRACT: Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks.
To overcome these diagnostic restrictions, we composed a panel of genes for Next Generation Sequencing containing the most relevant epilepsy genes and covering the most relevant epilepsy phenotypes known so far. With this method, 265 genes were analyzed per patient in a single step. We evaluated this panel on a pilot cohort of 33 index patients with concise epilepsy phenotypes or with a severe but unspecific seizure disorder covering both sporadic and familial cases.
We identified presumed disease-causing mutations in 16 of 33 patients comprising sequence alterations in frequently as well as in less commonly affected genes. The detected aberrations encompassed known and unknown point mutations (SCN1A p.R222X, p. E289V, p.379R, p.R393H; SCN2A p.V208E; STXBP1 p.R122X; KCNJ10 p.L68P, p.I129V; KCTD7 p.L108M; KCNQ3 p.P574S; ARHGEF9 p.R290H; SMS p.F58L; TPP1 p.Q278R, p.Q422H; MFSD8 p.T294K), a putative splice site mutation (SCN1A c.693A> p.T/P231P) and small deletions (SCN1A p.F1330Lfs3X [1 bp]; MFSD8 p.A138Dfs10X [7 bp]). All mutations have been confirmed by conventional Sanger sequencing and, where possible, validated by parental testing and segregation analysis. In three patients with either Dravet syndrome or myoclonic epilepsy, we detected SCN1A mutations (p.R222X, p.P231P, p.R393H), even though other laboratories had previously excluded aberrations of this gene by Sanger sequencing or high-resolution melting analysis.
We have developed a fast and cost-efficient diagnostic screening method to analyze the genetic basis of epilepsies. We were able to detect mutations in patients with clear and with unspecific epilepsy phenotypes, to uncover the genetic basis of many so far unresolved cases with epilepsy including mutation detection in cases in which previous conventional methods yielded falsely negative results. Our approach thus proved to be a powerful diagnostic tool that may contribute to collecting information on both common and unknown epileptic disorders and in delineating associated phenotypes of less frequently mutated genes.
Epilepsia 05/2012; 53(8):1387-98. · 3.96 Impact Factor
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Andrea Poretti,
Volker Mall,
Martin Smitka,
Sebastian Grunt,
Sarah Risen,
Sandra P Toelle,
Jane E Benson,
Shoko Yoshida,
Nikolai H Jung,
Sigrid Tinschert,
Teresa M Neuhann,
Anita Rauch, Maja Steinlin,
Avner Meoded,
Thierry A G M Huisman,
Eugen Boltshauser
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ABSTRACT: Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far. This article aims to categorize the magnetic resonance imaging (MRI) findings, quantitate the macrocerebellum by volumetric analysis, characterize the neurological and dysmorphic features and cognitive outcome, and report the results of genetic analyses in children with macrocerebellum. All MR images were qualitatively evaluated for infratentorial and supratentorial abnormalities. Volumetric analysis was performed. Data about neurological and dysmorphic features, outcome, and genetic analysis were collected from clinical histories and follow-up examinations. Five patients were included. Volumetric analysis in three patients confirmed large cerebellar size compared to age-matched controls. MR evaluation showed that thickening of the cortical gray matter of the cerebellar hemispheres is responsible for the macrocerebellum. Additional infratentorial and supratentorial abnormalities were present in all patients. Muscular hypotonia, as well as impaired motor and cognitive development, was found in all patients, with ocular movement disorders in three of five patients. The five patients differed significantly in terms of dysmorphic features and involvement of extracerebral organs. Submicroscopic chromosomal aberrations were found in two patients. Macrocerebellum is caused by thickening of the cortical gray matter of the cerebellar hemispheres, suggesting that cerebellar granule cells may be involved in its development. Patients with macrocerebellum show highly heterogeneous neuroimaging, clinical, and genetic findings, suggesting that macrocerebellum is not a nosological entity, but instead represents the structural manifestation of a deeper, more basic biological disturbance common to heterogeneous disorders.
The Cerebellum 04/2012; · 3.21 Impact Factor
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Maja Steinlin
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ABSTRACT: Childhood stroke is increasingly being recognized as an important burden not only for affected children and families, but also for socioeconomic reasons. A primary problem is delayed diagnosis, due to the many mimics of childhood stroke, and the variety of manifesting symptoms. The most important is hemiparesis (with/without dysphasia or facial palsy), but ataxia, seizures, and many more are also possible. Suspicion of stroke has to be ascertained by neuroimaging, gold standard being (diffusion weighted) magnetic resonance. Risk factors are multiple, but their presence might help to increase the suspicion of stroke. The most important factors are infectious/parainfectious etiologies, frequently possibly manifesting by transient focal cerebral arteriopathy (FCA). Cardiological underlying problems are the second most important. Arteriopathies can be detected in about half of the children, besides FCA and dissection and MoyaMoya disease are the most important. Hereditary coagulopathies increase the risk of stroke. There is still a controversy on best treatment in children: platelet antiaggregation and heparinization are used about equally. Thrombolysis is being discussed increasingly. Severity of symptoms at manifestation and on follow-up are not less significant in children than in young adults. About two-third of the children have significant residual neurological problems and a majority cognitive and behavior problems.
Neuropediatrics 02/2012; 43(1):1-9. · 0.94 Impact Factor
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ABSTRACT: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder. The detection of optic pathway gliomas is essential for further management but is often delayed in infancy due to oligosymptomatic progression and difficulties in clinical detection. Therefore, the aim of our study was to find a clinical indicator for the presence of optic pathway gliomas in children with neurofibromatosis type 1 in order to facilitate early diagnosis and initiate further ophthalmological and neuroimaging investigations.
We retrospectively evaluated 70 patients (mean age of 10.5 years; SD of 4.3 years; range of 0.5-19.6 years; 35 females) with neurofibromatosis type 1 seen at the University Children's Hospital of Bern, Switzerland, between January 1998 and December 2008 regarding clinical features of neurofibromatosis type 1 in relation to the presence of optic pathway gliomas.
Fifty-seven of the 70 patients (81.4%) had no clinical or radiological signs of optic pathway gliomas [magnetic resonance imaging (MRI) of the brain in 26/57], whereas 13/70 patients (18.6%) were diagnosed with optic pathway gliomas by MRI. Patients with optic pathway gliomas showed macrocephaly significantly more often compared to patients without optic pathway gliomas (8/13 vs. 9/57, respectively; p = 0.004).
Macrocephaly significantly correlates with the incidence of optic pathway gliomas in children with neurofibromatosis type 1. We therefore hypothesise that in otherwise asymptomatic patients, macrocephaly is an additional indicator for performing MRI to detect optic pathway gliomas.
Child s Nervous System 08/2011; 27(12):2107-11. · 1.54 Impact Factor
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Sandra Bigi,
Urs Fischer,
Edith Wehrli,
Heinrich P Mattle,
Eugen Boltshauser,
Sarah Bürki,
Pierre-Yves Jeannet,
Joel Fluss,
Peter Weber,
Krassen Nedeltchev,
Marwan El-Koussy, Maja Steinlin,
Marcel Arnold
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ABSTRACT: The aim of this study was to compare children and young adults with acute ischemic stroke (AIS) in 2 large registries.
We compared clinical characteristics, stroke etiology, workup, and outcome (modified Rankin scale score [mRS] at 3-6 months) in children (1 month-16 years) and young adults (16.1-45 years) with AIS. Data of children were collected prospectively in the nationwide Swiss NeuroPediatric Stroke Registry, young adults in the Bernese stroke database. Outcome (mRS) and stroke severity (pediatric adaptation of the National Institutes of Health stroke scale [PedNIHSS]) in children were calculated retrospectively.
From January 2000 to December 2008, 128 children and 199 young adults suffered from an AIS. Children were more likely to be male than young adults (62%/49%, p = 0.023) and less frequently had hypertension (p = 0.001), hypercholesterolemia (p = 0.003), and a family history of stroke (p = 0.048). Stroke severity was similar in children and young adults (median PedNIHSS/NIHSS 5/6; p = 0.102). Stroke etiology (original TOAST classification) was more likely to be "other determined cause" in children than in young adults (51%/29%; p < .001). Cervicocerebral artery dissections were less frequent in children than in young adults (10%/23%; p = 0.005). Outcome at 3 to 6 months did not differ between children and young adults (p = 0.907); 59% of children and 60% of young adults had a favorable outcome (mRS 0-1). Mortality was similar among children and young adults (4%/6%; p = 0.436). In multivariate analysis, low PedNIHSS/NIHSS was the most important predictor of favorable outcome (p < 0.001).
Although stroke etiology and risk factors in children and young adults are different, stroke severity and clinical outcome were similar in both groups.
Annals of Neurology 08/2011; 70(2):245-54. · 11.09 Impact Factor
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ABSTRACT: Duchenne muscular dystrophy (DMD) is a hereditary X-linked recessive disorder affecting the synthesis of dystrophin, a protein essential for structural stability in muscle. Dystrophin also occurs in the central nervous system, particularly in the neocortex, hippocampus and cerebellum. Quantitative metabolic analysis by localized (1) H MRS was performed in the cerebellum (12 patients and 15 controls) and a temporo-parietal location (eight patients and 15 controls) in patients with DMD and healthy controls to investigate possible metabolic differences. In addition, the site of individual mutations on the dystrophin gene was analyzed and neuropsychological cognitive functions were examined. Cognitive deficits in the patient group were found in line with earlier investigations, mainly concerning verbal short-term memory, visuo-spatial long-term memory and verbal fluency, but also the full-scale IQ. Causal mutations were identified in all patients with DMD. Quantitative MRS showed consistent choline deficits, in both cerebellar white matter and temporo-parietal cortex, as well as small, but significant, metabolic abnormalities for glutamate and total N-acetyl compounds in the temporo-parietal region. Compartment water analysis did not reveal any abnormalities. In healthy subjects, choline levels were age related in the cerebellum. The choline deficit contrasts with earlier findings in DMD, where a surplus of choline was postulated for the cerebellum. In patients, total N-acetyl compounds in the temporo-parietal region were related to verbal IQ and verbal short-term memory. However, choline, the putative main metabolic abnormality, was not found to be associated with cognitive deficits. Furthermore, in contrast with the cognitive performance, the metabolic brain composition did not depend significantly on whether or not gene mutations concerned the expression of the dystrophin isoform Dp140, leading to the conclusion that the effect of the missing Dp140 isoform on cognitive performance is not mediated through the observed metabolite composition, or is caused by local effects beyond the resolution accessible to MRS investigations.
NMR in Biomedicine 04/2011; 24(3):253-62. · 3.21 Impact Factor
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ABSTRACT: After arterial ischemic stroke (AIS) an early diagnosis helps preserve treatment options that are no longer available later. Paediatric AIS is difficult to diagnose and often the time to diagnosis exceeds the time window of 6 hours defined for thrombolysis in adults. We investigated the delay from the onset of symptoms to AIS diagnosis in children and potential contributing factors.
We included children with AIS below 16 years from the population-based Swiss Neuropaediatric Stroke Registry (2000-2006). We evaluated the time between initial medical evaluation for stroke signs/symptoms and diagnosis, risk factors, co-morbidities and imaging findings.
A total of 91 children (61 boys), with a median age of 5.3 years (range: 0.2-16.2), were included. The time to diagnosis (by neuro-imaging) was <6 hours in 32 (35%), 6-12 hours in 23 (25%), 12-24 hours in 15 (16%) and >24 hours in 21 (23%) children. Of 74 children not hospitalised when the stroke occurred, 42% had adequate outpatient management. Delays in diagnosis were attributed to: parents/caregivers (n = 20), physicians of first referral (n = 5) and tertiary care hospitals (n = 8). A co-morbidity hindered timely diagnosis in eight children. No other factors were associated with delay to diagnosis. A total of 17 children were inpatients at AIS onset.
One-third of children with AIS were diagnosed within six hours. Diagnostic delay was predominately caused by insufficient recognition of stroke symptoms. Increased public and expert awareness and immediate access to diagnostic imaging are essential. The ability of parents/caregivers and health professionals to recognise stroke symptoms in a child needs to be improved.
Schweizerische medizinische Wochenschrift 01/2011; 141:w13281. · 1.68 Impact Factor
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ABSTRACT: Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitive deficits. To investigate the relationship between dystrophin mutations and cognition, the general intellectual abilities of a group of 25 boys with genetically confirmed Duchenne muscular dystrophy were evaluated. Furthermore, a subgroup underwent additional detailed neuropsychological assessment. The results showed a mean full scale intelligence quotient (IQ) of 88 (standard deviation 24). Patients performed very poorly on various neuropsychological tests, including arithmetics, digit span tests and verbal fluency. No simple relationship between dystrophin mutations and cognitive functioning could be detected. However, our analysis revealed that patients who lack the dystrophin isoform Dp140 have significantly greater cognitive problems.
Journal of Clinical Neuroscience 01/2011; 18(1):90-5. · 1.25 Impact Factor
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ABSTRACT: The aim of the present study was to assess cognitive, affective, and motor long-term sequelae after acquired focal pediatric cerebellar lesions.
Eight patients with a history of isolated acquired hemorrhagic cerebellar lesions before the age of 13 participated in this study. All participants underwent a neurologic examination, including the Zurich Neuromotor Assessment (ZNA) and the International Cooperative Ataxia Rating Scale (ICARS). Cognitive functions have been evaluated with a general cognitive assessment and an extensive neuropsychological battery. Furthermore, patients and parents filled in questionnaires about quality of life and possible behavioral or emotional problems.
The results revealed that all patients exhibited motor problems (ZNA). Most participants had further restricted oculomotor movements (ICARS). Age at injury and the full scale IQ were significantly positively correlated (Pearson correlation 0.779; p = 0.023). Conversely, no overall neuropsychological profile could be identified except for marginally reduced reaction times and susceptibility to interference. In addition, borderline results in semantic and phonemic word fluency tasks were apparent. A dysexecutive syndrome was diagnosed in one patient. However, verbal performance and reading abilities were non-pathologic in all participants. The patients reported having a good quality of life without major physical restrictions.
Emotional disturbances and the presence of a mild cerebellar cognitive affective syndrome (as frequently described in adult patients) could only be confirmed in adolescents with vermis lesions. Nevertheless, in laboratory conditions, neuropsychological impairments were present in all patients. Heterogeneity of age at injury and exact lesion site may have led to interpersonal differences in neuropsychological outcome.
Child s Nervous System 12/2010; 27(6):923-31. · 1.54 Impact Factor
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Sebastian Grunt,
Kevin Wingeier,
Edith Wehrli,
Eugen Boltshauser,
Andrea Capone,
Joel Fluss,
Danielle Gubser-Mercati,
Pierre-Yves Jeannet,
Elmar Keller,
Jean-Pierre Marcoz,
Thomas Schmitt-Mechelke,
Peter Weber,
Markus Weissert, Maja Steinlin
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ABSTRACT: AIMo describe the characteristics of paediatric cerebral sinus venous thrombosis (CSVT) in Switzerland.
data on clinical features, neuroimaging, risk factors, and treatment were collected for all children in Switzerland younger than 16 years of age who had CSVT between January 2000 and December 2008. A follow-up examination and a cognitive assessment were performed (mean follow-up period 26mo). Differences between neonates and children (patients older than 28d) were assessed and predictors of outcome were determined.
twenty-one neonates (14 males, seven females; mean age 9d, SD 8d) and 44 children (30 males, 14 females; mean age 8y 7mo, SD 4y 5mo) were reported. The incidence of paediatric CSVT in Switzerland was 0.558 per 100000 per year. In neonates, the deep venous system was more often involved and parenchymal injuries were more common. The strongest predictor of poor outcome was neonatal age (odds ratio 17.8, 95% confidence interval 0.847-372.353). Most children showed global cognitive abilities within the normal range, but impairments in single cognitive subdomains were frequent.
paediatric CSVT is rare. Its outcome is poor in neonates. Most children have good neurological outcomes, but some patients have individual neuropsychological impairments.
Developmental Medicine & Child Neurology 12/2010; 52(12):1145-50. · 2.92 Impact Factor
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Sarah Buerki,
Katja Roellin,
Luca Remonda,
Danielle Gubser Mercati,
Pierre-Yves Jeannet,
Elmar Keller,
Juerg Luetschg,
Caroline Menache,
Gian Paolo Ramelli,
Thomas Schmitt-Mechelke,
Markus Weissert,
Eugen Boltshauser, Maja Steinlin
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ABSTRACT: The aim of this study was to describe neuroimaging patterns associated with arterial ischaemic stroke (AIS) in childhood and to differentiate them according to stroke aetiology.
Clinical and neuroimaging (acute and follow-up) findings were analysed prospectively in 79 children (48 males, 31 females) aged 2 months to 15 years 8 months (median 5 y 3 mo) at the time of stroke by the Swiss Neuropaediatric Stroke Registry from 2000 to 2006.
Stroke was confirmed in the acute period in 36 out of 41 children who underwent computed tomography, in 53 of 57 who underwent T2-weighted magnetic resonance imaging (MRI) and in all 48 children who underwent diffusion-weighted MRI. AIS occurred in the anterior cerebral artery (ACA) in 63 participants and in all cases was associated with lesions of the middle cerebral artery (MCA). The lesion was cortical-subcortical in 30 out of 63 children, cortical in 25 out of 63, and subcortical in 8 of 63 children. Among participants with AIS in the posterior circulation territory, the stroke was cortical-subcortical in 8 out of 16, cortical in 5 of 16, and thalamic in 3 out of 16 children.
AIS mainly involves the anterior circulation territory, with both the ACA and the MCA being affected. The classification of Ganesan is an appropriate population-based classification for our Swiss cohort, but the neuroimaging pattern alone is insufficient to determine the aetiology of stroke in a paediatric population. The results show a poor correlation between lesion pattern and aetiology.
Developmental Medicine & Child Neurology 11/2010; 52(11):1033-7. · 2.92 Impact Factor
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ABSTRACT: To study whether onset of infantile spasms manifests seasonal variation, as previously reported, and whether any such seasonality is associated with treatment response and long-term outcome, data for 57 patients were retrospectively reviewed. The data were collected from hospital files and through a mail survey of children with infantile spasms born from 1980 to 2002 and monitored at the University Children's Hospital of Berne, Switzerland. The mean age at time of onset of infantile spasms was 7 months (range, 0.75-40), at diagnosis 8 months (range, 1-42) and at follow-up 11.3 years (range, 1-23 years). In 77% of participants, the etiology of infantile spasms was known (symptomatic); in the remaining 23% it was not known (nonsymptomatic). In contrast to previous findings, onset of infantile spasms was not associated with calendar month, photoperiod, or global solar radiation. Long-term prognosis was poor: 4 of the 57 (7%) children died; 49 (86%) had cognitive impairment and 40 (70%) had physical impairment; 31 (54%) had cerebral palsy, 37 had (65%) persistent seizures, and 9 (16%) had Lennox-Gastaut syndrome. Symptomatic infantile spasms were associated with worse cognitive outcome (P < 0.001), but treatment modality and overall duration of infantile spasms were not. There was no association of calendar month or photoperiod at onset with cognitive outcome or treatment response.
Pediatric Neurology 08/2010; 43(2):92-6. · 1.52 Impact Factor
