| 1. |
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| 2. |
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| 3. |
- Eeg-Olofsson, Orvar, et al.
(författare)
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Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family
- 2008
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 12:5, s. 404-7
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Tidskriftsartikel (refereegranskat)abstract
- Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.
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| 4. |
- Lundberg, Staffan, et al.
(författare)
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Hippocampal asymmetries and white matter abnormalities on MRI in benign childhood epilepsy with centrotemporal spikes
- 1999
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Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 40:12, s. 1808-15
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To look for brain abnormalities by using magnetic resonance imaging (MRI) in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS), which is the most common epilepsy syndrome in children. METHODS: Eighteen children, aged 6-12 years, with typical BCECTS were examined with MRI, six of them twice. RESULTS: Some hippocampal abnormality was found in six (33%) of the children, all with the syndrome's typical electroencephalogram (EEG) pattern ipsilaterally. Hippocampal size asymmetry was found in five (28%) children (right side < left in two and left < right in three), and high signal intensities on T2-weighted images were found in three (17%). Two children also had other abnormalities; one had a heterotopic nodule near the contralateral frontal horn, and one had an Arnold-Chiari malformation. The hippocampal asymmetry remained unchanged in three of the children who were reexamined after 2 years. High signal intensities on T2-weighted images were seen beneath the cortex-white matter junction in the frontal and temporal lobes of five (28%) children, one of whom also had a hippocampal asymmetry. MRIs were normal in eight (44%) children. CONCLUSION: For the first time, hippocampal asymmetries and white-matter abnormalities have been detectable on the MRIs of children with typical BCECTS. The etiology of the former is unclear, whereas the latter may be a result of a maturational delay involving a defective myelination. Long-term follow-up studies are needed to evaluate the relation between these findings and the clinical course of BCECTS.
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| 5. |
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| 6. |
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| 7. |
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| 8. |
- Bajic, Dragan, et al.
(författare)
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Incomplete inversion of the hippocampus : a common developmental anomaly
- 2008
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Ingår i: European Radiology. - : Springer Science and Business Media LLC. - 0938-7994 .- 1432-1084. ; 18:1, s. 138-142
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Tidskriftsartikel (refereegranskat)abstract
- Incomplete inversion of the hippocampus, an imperfect fetal development, has been described in patients with epilepsy or severe midline malformations. We studied this condition in a nonepileptic population without obvious developmental anomalies. We analyzed the coronal MR images of 50 women and 50 men who did not have epilepsy. Twenty of them were healthy volunteers and 80 were patients without obvious intracranial developmental anomalies, intracranial masses, hydrocephalus or any condition affecting the temporal lobes. If the entire hippocampus (the head could not be evaluated) were affected, the incomplete inversion was classified as total, otherwise as partial. Incomplete inversion of the hippocampus was found in 19/100 subjects (9 women, 10 men). It was unilateral, always on the left side, in 13 subjects (4 women, 9 men): 9 were of the total type, 4 were partial. It was bilateral in six subjects (five women, one man): four subjects had total types bilaterally, two had a combination of total and partial types. The collateral sulcus was vertically oriented in all subjects with a deviating hippocampal shape. We conclude that incomplete inversion of the hippocampus is not an unusual morphologic variety in a nonepileptic population without other obvious intracranial developmental anomalies.
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| 9. |
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| 10. |
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| 11. |
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| 12. |
- Bakke, Kristin A, et al.
(författare)
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Levetiracetam reduces the frequency of interictal epileptiform discharges during NREM sleep in children with ADHD
- 2011
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 15:6, s. 532-538
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Symptoms of attention deficit hyperactivity disorder (ADHD) are more common in children with epilepsy than in the general paediatric population. Epileptiform discharges in EEG may be seen in children with ADHD also in those without seizure disorders. Sleep enhances these discharges which may be suppressed by levetiracetam. AIM: To assess the effect of levetiracetam on focal epileptiform discharges during sleep in children with ADHD. METHOD: In this retrospective study a new semi-automatic quantitative method based on the calculation of spike index in 24-h ambulatory EEG recordings was applied. Thirty-five ADHD children, 17 with focal epilepsy, one with generalised epilepsy, and 17 with no seizure disorder were evaluated. Follow-up 24-h EEG recordings were performed after a median time of four months. RESULTS: Mean spike index was 50 prior to levetiracetam treatment and 21 during treatment. Seventeen children had no focal interictal epileptiform discharges in EEG at follow-up. Five children had a more than 50% reduction in spike index. Thus, a more than 50% reduction in spike index was found in 22/35 children (63%). Out of these an improved behaviour was noticed in 13 children (59%). CONCLUSION: This study shows that treatment with levetiracetam reduces interictal epileptiform discharges in children with ADHD. There is a complex relationship between epilepsy, ADHD and epileptiform activity, why it is a need for prospective studies in larger sample sizes, also to ascertain clinical benefits.
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| 13. |
- Björk, Anne, et al.
(författare)
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Endovascular treatment of a spinal arteriovenous malformation in a 21-month-old boy
- 1994
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Ingår i: Acta Paediatrica. - 0803-5253 .- 1651-2227. ; 83:12, s. 1326-1331
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Reports of spinal arteriovenous malformations in children are rare. This case report describes a 21-month-old boy whose first symptom was attacks of abdominal pain, followed gradually by neurological symptoms. The diagnosis was made using magnetic resonance imaging and spinal angiography, and the patient was successfully treated with embolization.
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| 14. |
- Brandberg, Göran, et al.
(författare)
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Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents
- 2004
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 8:1, s. 35-44
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Hypothalamic hamartoma with gelastic seizures (HHGS) is an uncommon, often unrecognized, epileptic syndrome with onset of symptoms during childhood. AIM: In order to study the occurrence, clinical symptoms and different investigations of HHGS in Swedish children and adolescents, a nationwide survey was undertaken. Methods. Twelve patients, three females, aged 5 to 19 years were identified and their hospital records reviewed. MRI examinations were reinvestigated. RESULTS: Gelastic seizures were noted before the age of six months in seven patients in at least three as early as the neonatal period. During the course of disease one or more other seizure types developed in 11 patients. Behaviour disorder became subsequently obvious in ten patients, and mental retardation was diagnosed in seven. Precocious puberty was diagnosed in five patients. A total of 46 MRI examinations were performed in 11 patients, revealing hypothalamic tumors, eight of which were drooping with a broad base. Interictal and ictal EEG examinations were pathological in 10 patients with nonspecific results. Nonspecific results were also found on SPECT and PET performed in six and two patients, respectively. Available antiepileptic drugs had little or no effect on gelastic seizures, but some effect on other seizure types. Precocious puberty was treated with a GnRH-agonist. Neurosurgical treatment of the hypothalamic hamartoma, performed in three patients, had a rather good outcome concerning gelastic seizures and behaviour. Vagal nerve stimulation in five patients had no effect. CONCLUSIONS: Review of the literature and experience from this group's own cases confirms that early diagnosis of HHGS is important. Hypothalamic hamartoma should be considered in any child with laughing attacks. MRI investigation is compulsory, and neurosurgery the most important treatment.
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| 15. |
- Chioza, Barry A., et al.
(författare)
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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
- 2009
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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| 16. |
- Chioza, B., et al.
(författare)
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Evaluation of CACNA1H in European patients with childhood absence epilepsy
- 2006
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Ingår i: Epilepsy Res. - : Elsevier BV. - 0920-1211. ; 69:2, s. 177-81
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Tidskriftsartikel (refereegranskat)abstract
- CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
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| 17. |
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| 18. |
- Danfors, Torsten, et al.
(författare)
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Tetrahydrobiopterin in the treatment of children with autistic disorder. A double-blind placebo-controlled crossover study
- 2005
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Ingår i: Journal of Clinical Psychopharmacology. - 0271-0749 .- 1533-712X. ; 25:5, s. 485-489
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Tidskriftsartikel (refereegranskat)abstract
- Twelve children, all boys, aged 4 to 7 years, with a diagnosis of autistic disorder and low concentrations of spinal 6R-l-erythro-5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin) were selected to participate in a double-blind, randomized, placebo-controlled, crossover study. The children received a daily dose of 3 mg tetrahydrobiopterin per kilogram during 6 months alternating with placebo. Treatment-induced effects were assessed with the Childhood Autism Rating Scale every third month. The results showed small nonsignificant changes in the total scores of Childhood Autism Rating Scale after 3- and 6-month treatment. Post hoc analysis looking at the 3 core symptoms of autism, that is, social interaction, communication, and stereotyped behaviors, revealed a significant improvement of the social interaction score after 6 months of active treatment. In addition, a high positive correlation was found between response of the social interaction score and IQ. The results indicate a possible effect of tetrahydrobiopterin treatment.
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| 19. |
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| 20. |
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| 21. |
- Eeg-Olofsson, Orvar, et al.
(författare)
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MRI in rolandic epilepsy
- 2000
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Ingår i: Epileptic disorders. - 1294-9361. ; 2:Suppl 1, s. S51-3
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Tidskriftsartikel (refereegranskat)abstract
- Hippocampal and/or white matter abnormalities have been found on the MRIs in 10/18 children with typical rolandic epilepsy. The etiology of the first-mentioned is not evident, whereas the latter may be a result of a maturational delay involving a defective myelination. Both abnormalities may cause cognitive dysfunction. In order to get a better understanding of rolandic epilepsy both MRI and neuropsychological studies are wanted in groups of children with typical rolandic seizures with and without rolandic sharp waves, as well as in groups of children with typical rolandic sharp waves and atypical seizures.
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| 22. |
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| 23. |
- Eeg-Olofsson, Orvar
(författare)
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Rolandic Epilepsy
- 2010
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Ingår i: Pediatric Neurology. - : Elsevier BV. - 0887-8994 .- 1873-5150. ; 42:3, s. 237-237
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Tidskriftsartikel (refereegranskat)
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| 24. |
- Eeg-Olofsson, Orvar, et al.
(författare)
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The way out of Babel
- 2013
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Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 54:4, s. 767-768
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 25. |
- Everett, Kate, et al.
(författare)
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Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
- 2007
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 75:2-3, s. 145-153
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Tidskriftsartikel (refereegranskat)abstract
- In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.
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| 26. |
- Everett, K. V., et al.
(författare)
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Linkage and association analysis of CACNG3 in childhood absence epilepsy
- 2007
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
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| 27. |
- Fertleman, C. R., et al.
(författare)
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Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)
- 2007
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Ingår i: Neurology. - : Ovid Technologies (Wolters Kluwer Health). - 0028-3878 .- 1526-632X. ; 69:6, s. 586-595
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.
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| 28. |
- Jonsson, Pysse, 1976-
(författare)
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10-year Outcome of Childhood Epilepsy in Well-functioning Children and Adolescents
- 2014
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Introduction: Epilepsy is one of the most common neurologic disorders in children and young adults. The prognosis depends on various conditions but the long-term prognosis regarding seizure freedom is positive in the majority of the children. Individuals with childhood-onset epilepsy are reported to have more problems in social functioning and psychological well-being compared with healthy control. The aim of this study was to investigate 10-year outcome of medical, psychological and social outcome in well-functioning individuals with childhood-onset epilepsy. Methods: Forty-five individuals and their parents completed a questionnaire regarding family history of epilepsy, febrile seizures, primary, mental retardation and behaviour disorders; and patients history of actual seizure situation, antiepileptic drug medication, febrile seizures, behaviour disorders, primary headaches, and schooling (Study I). Two families denied participation. Out of the remaining 45 families, 31 filled in a questionnaire - Achenbach System of Empirically Based Assessment (ASEBA) - assessing competence, adaptive functioning and behavioural/emotional problems (Study II). Results: The overall remission was 75.6%. Of the 11 with active epilepsy five had cryptogenic/ unknown or structural/symptomatic focal epilepsy; one had idiopathic photosensitive occipital epilepsy, one each with the diagnoses childhood absence epilepsy and juvenile absence epilepsy, and three with other idiopathic generalized epilepsies. The family history of epilepsy was 44% and of febrile seizures 17.7%. A coincidence of focal and generalized epilepsy phenotypes was found in some families. Behavioral, emotional and school problems were found in 29%. Those with active epilepsy had significantly more attention problems and somatic complaints than those in remission. Two individuals presented several problems in the clinical range. Conclusion: Longitudinal studies are of importance in epilepsy epidemiology. Early intervention in children and adolescents with epilepsy is of importance as knowledge about the disorder and eventual additional co-morbidities decreases the risk of depression, social anxiety and low self-esteem in adulthood.
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| 29. |
- Jonsson, Pysse, 1976-, et al.
(författare)
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10-year outcome of childhood epilepsy in well-functioning children and adolescents
- 2011
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 15:4, s. 331-337
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND A population based study of epilepsy in children from a Swedish county including all children aged 1 month to 16 years was reported in 2006. AIM To describe the medical outcome, seizure types, epilepsy syndromes, treatment, individual and family history in children from this study who were well-functioning in January 1997 and the outcome after 10 years. METHODS Forty-five individuals, 11-21 years, 19 females, and their parents responded to a questionnaire and the hospital records were reviewed. RESULTS At the end of the 10-year period 75.6% of the patients were in remission. Focal seizures and focal seizures with secondary generalization were found in 57.8%. Rolandic epilepsy had been diagnosed in 33.3%, other idiopathic focal epilepsies in 11.0%, cryptogenic and symptomatic focal epilepsies in 22.2%, childhood absence epilepsy in 8.9%, juvenile absence epilepsy and Jeavons syndrome in each 2.2%, West syndrome in 4.4%, and other "generalized" epilepsies in 15.5%. The patients had a history of simple febrile seizures in 15.6% and of primary headache in 24.4%. Monotherapy with antiepileptic drugs was used by 64.4%, and valproate was the most common first drug of choice. A family history of epilepsy was found in 44.4%, febrile seizures in 17.7%, and primary headache in 57.8%. A coincidence of focal and generalized epilepsy phenotypes was found in some families. CONCLUSIONS Longitudinal studies are of importance in epilepsy epidemiology. Our results reflect the selection of only well-functioning individuals with epilepsy from the population based original study.
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| 30. |
- Jonsson, Pysse, 1976-, et al.
(författare)
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Psychological and social outcome of epilepsy in well-functioning children and adolescents. A 10-year follow-up study
- 2014
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 18:3, s. 381-390
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Tidskriftsartikel (refereegranskat)abstract
- Background: From a population based study of epilepsy in Swedish children a subgroup designated well-functioning with an epilepsy diagnosis in 1997 was worked up from a medical point of view 10 years later. Aim: To describe the psychological and social outcome in this subgroup. Methods: Thirty-one patients aged 11-22 years and their parents/partners responded to a questionnaire according to Achenbach System of Empirically Based Assessment (ASEBA) to evaluate behavioural and emotional problems, and social competence. Results: Active epilepsy, diagnosed in 32%, was related to attention problems, somatic complaints, and school problems. Polytherapy, used in 16%, was related to attention problems and aggressive behaviour. School problems were found in six of seven children younger than 18 years. Internalizing, externalizing, and 'other' syndromes were found in 29% of the individuals, but a grouping of these syndromes in the clinical range only in two (6.5%), a girl with generalized tonic clonic seizures alone, and a boy with structural focal epilepsy. Both had active epilepsy and were treated with polytherapy. All ten individuals with Rolandic epilepsy were classified as normal. The answers to the ASEBA questionnaire of individuals and parents/partners were inconsistent, and parents generally stated more problems than the individuals. Summary.: This 10-year follow-up study of psychological and social outcome in well-functioning children and adolescents with childhood onset epilepsy shows some emotional, behavioural, and social problems. Thus, early information to increase knowledge about epilepsy and associated psychological co-morbidities in order to decrease risk of low self-esteem, social anxiety, and depression later in life is of importance.
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| 31. |
- Larsson, Bo, et al.
(författare)
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Återkommande huvudvärk hos barn och tonåringar
- 2007
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Ingår i: Läkartidningen. - Stockholm : Sveriges läkarförbund. - 0023-7205 .- 1652-7518. ; :23, s. 1802-1805
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Tidskriftsartikel (refereegranskat)abstract
- Återkommande huvudvärk är ett av de vanligaste hälsoproblemen bland skolbarn och rapporteras av cirka en fjärdedel. Den är särskilt vanlig bland flickor i tonåren. Vanligast är huvudvärk av spänningstyp och/eller migrän. Hos skolbarn medför återkommande huvudvärk sänkt livskvalitet, högre grad av emotionella och sociala problem samt andra somatiska symtom. Prognosen för sådan huvudvärk är också osäker. Det är av stor vikt att lärare och skolsköterskor/läkare tidigt uppmärksammar återkommande huvudvärk hos barn och ungdom så att den blir diagnostiserad och behandlad i enlighet med bästa tillgängliga kunskap. Ett sådant omhändertagande omfattar både aktiv psykologisk och farmakologisk behandling, vilket påtagligt kan minska besvären och deras psykosociala konsekvenser.
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| 32. |
- Larsson, Katrin, et al.
(författare)
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A population based study of epilepsy in children from a Swedish county
- 2006
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 10:3, s. 107-113
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Tidskriftsartikel (refereegranskat)abstract
- Background: Epidemiological studies of childhood epilepsy are of importance to compare incidence and prevalence rates, age distribution, inheritance, seizure types, epilepsy syndromes and treatment strategies. Aim: To perform an epidemiological study on children with epilepsy in a Swedish county using current ILAE classifications and a recent proposal. Methods: A population-based study was performed using the hospital data register to select children aged 1 month to 16 years with the diagnosis 'convulsions' or 'epilepsy' recognized between January 1996 and December 2000. Only patients with active epilepsy were included. Results: Two hundred and five children met the study criteria on the prevalence day 31st December, 2000. The total prevalence rate was 3.4/1000 with a peak prevalence in the age group 8-11 years. The incidence year 2000 was 40/100,000. Additional neuroimpairments were registered in 47.3%. A majority of the patients, 54.0%, had focal or focal plus secondarily generalized seizures. A named syndrome could be diagnosed in 49.4%. The most common. syndrome was rolandic epilepsy occurring in 17.0%. Childhood absence epilepsy occurred in 5.9%. Different disorders associated with epilepsy were found in 31.7%. The most common associated phenomenon was malformation of cortical development. Antiepileptic drug treatment was used in 81.0%, the most common first choice being valproate. Conclusions: The prevalence and incidence rates in this strictly delineated study are lower than those found in other epidemiological studies. Together with many divergences between reported studies concerning frequencies of different items, the results apparently depend on design, e.g. differences in age groups included, inclusion criteria used, and general methodology.
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| 33. |
- Larsson, Pål G., et al.
(författare)
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A New Method for Quantification and Assessment of Epileptiform Activity in EEG with Special Reference to Focal Nocturnal Epileptiform Activity
- 2009
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Ingår i: Brain Topography. - : Springer Science and Business Media LLC. - 0896-0267 .- 1573-6792. ; 22:1, s. 52-59
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Tidskriftsartikel (refereegranskat)abstract
- Quantification of epileptiform activity in EEG has been applied for decades. This has mainly been done by visual inspection of the recorded EEG. There have been many attempts using computers to quantify the activity, usually with moderate success. In a row of contexts, including Landau-Kleffner syndrome and the syndrome of epilepsy with continuous spike wave during slow sleep, the spike index (SI) has been applied to quantify [Symbol: see text]interictal nocturnal focal epileptiform activity', which is suggested as a general term for the epileptiform activity enhanced by sleep. However, the SI has been implemented differently by different authors and has usually not been well described and never properly defined. This study suggests a definition of SI that gives a semiautomatic and relatively robust algorithm for assessment. The method employs spike detection by means of template matching of the current source density estimate. The percentage of time within an epoch with interspike interval (ISI) below a given limit, usually 3 s, is returned as the SI. This is calculated during daytime and in non-REM sleep. The standard epoch length is 10 min. The parameter selection is discussed in the context of the influence of spikes and bursts on cognition. The described method gives reproducible results in routine use, gives clinical valuable information, and is easily implemented in a clinical setting. There is only a minor added workload for the electroencephalographer.
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| 34. |
- Larsson, Pål G., et al.
(författare)
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Alpha Frequency Estimation in Patients With Epilepsy
- 2012
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Ingår i: Clinical EEG and Neuroscience. - : SAGE Publications. - 1550-0594 .- 2169-5202. ; 43:2, s. 97-104
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Tidskriftsartikel (refereegranskat)abstract
- We report comparison and assessment of the clinical utility of different automated methods for the estimation of the alpha frequency in electroencephalograph (EEG) and compare them with visual evaluation. A total of 56 consecutive patients, aged 17 to 78 years, who had a routine EEG recording, were included, and they were grouped as patients with epilepsy (Ep) and without epilepsy (nEp). Five different methods were used for alpha frequency estimation: visually guided manual counting and visually guided Fourier transform, and 3 methods were fully automated: time domain estimation of alpha (automatic assessment of alpha waves in time domain [ATD]) and 2 fast Fourier transform (FFT)-based methods, a segmented (automatic assessment of EEG segments by FFT) and one full FFT (automatic assessment of whole EEG by one FFT of the full recording [AWF]). The AWF discriminated significantly between Ep and nEp. Visually guided manual counting showed an almost significant difference independently in the 2 occipital electrodes. The ATD underestimated high frequencies and returned a too low mean frequency. This study shows that AWF is the best suited method for automatic assessment of the alpha frequency.
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| 35. |
- Larsson, Pål G., et al.
(författare)
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Decrease in Propagation of Interictal Epileptiform Activity After Introduction of Levetiracetam Visualized with Electric Source Imaging
- 2010
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Ingår i: Brain Topography. - : Springer Science and Business Media LLC. - 0896-0267 .- 1573-6792. ; 23:3, s. 269-278
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Tidskriftsartikel (refereegranskat)abstract
- Different neuroimaging techniques (fMRI, spectroscopy, PET) are being used to evaluate candidate drugs in pharmacological development. In patients with epilepsy fast propagation of the epileptiform activity between different brain areas occurs. Electric Source Imaging (ESI), in contrast to the aforementioned techniques, has a millisecond time resolution, allowing visualization of this fast propagation. The purpose of the current project was to use ESI to investigate whether introduction of an antiepileptic drug (levetiracetam, LEV) would change the propagation patterns of the interictal epileptiform activity. Thirty patients with epilepsy were subject to an EEG recording before (pre-LEV) and after (in-LEV) introduction of LEV. Interictal spikes with similar topographic distribution were averaged within each subject, and a distributed source model was used to localize the EEG sources of the epileptiform activity. The temporal development of the activity within 20 regions of interest (ROIs) was determined, and source propagation between different regions was compared between the pre-LEV and in-LEV recordings. Patients with epileptic seizures showed propagation in 22/24 identified spike types in the pre-LEV recordings. In the in-LEV recordings only 7/15 spike types showed propagation, and six of these seven propagating spikes were recorded in patients with poor effect of treatment. Also in patients without seizures LEV tended to suppress propagation. We conclude that the observed suppression of source propagation can be considered as an indicator of effective antiepileptic treatment. ESI might thus become a useful tool in the early clinical evaluation of new candidate drugs in pharmacological development.
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| 36. |
- Larsson, Pål G., et al.
(författare)
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Do sleep-deprived EEG recordings reflect spike index as found in full-night EEG recordings?
- 2010
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Ingår i: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050 .- 1525-5069. ; 19:3, s. 348-351
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Tidskriftsartikel (refereegranskat)abstract
- The sleep EEGs of many children with neurodevelopmental disorders reveal epileptiform activity. The aim of this study was to compare spike index (SI) in full-night recordings with SI in sleep-deprived EEGs in the morning; EEGs were obtained over 24 hours using ambulatory equipment. Sixteen children between the ages of 7 and 12 years were included in the study. They had to wake up at 3:00 AM and go to sleep again at 7:30 AM. Epileptiform activity was quantified, and SIs of full-night and morning recordings were compared. Two patients did not fall asleep. In one recording there was a technical problem that made calculations impossible. SIs calculated from EEGs obtained during a short nap in the morning were comparable to those calculated from full-night recordings. There seems to be a higher failure rate during morning recordings because of patients not falling asleep.
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| 37. |
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| 38. |
- Laurell, Katarina, et al.
(författare)
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A 3-year follow-up of headache diagnoses and symptoms in Swedish schoolchildren
- 2006
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Ingår i: Cephalalgia. - : SAGE Publications. - 0333-1024 .- 1468-2982. ; 26:7, s. 809-815
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Tidskriftsartikel (refereegranskat)abstract
- Information is sparse concerning the incidence and prognosis of headache in children from the general population, especially of tension-type headache. In this study, headache diagnoses and symptoms were reassessed in 122 out of 130 schoolchildren after 3 years. Nearly 80% of those with headache at first evaluation still reported headache at follow-up. Although the likelihood of experiencing the same headache diagnosis and symptoms was high, about one-fifth of children with tension-type headache developed migraine and vice versa. Female gender predicted migraine and frequent headache episodes predicted overall headache at follow-up. The estimated average annual incidence was 81 and 65 per 1000 children, for tension-type headache and migraine, respectively. We conclude that there is a considerable risk of developing and maintaining headache during childhood. Headache diagnoses should be reassessed regularly and treatment adjusted. Girls and children with frequent headache have a poorer prognosis and therefore intervention is particularly important in these groups.
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| 39. |
- Laurell, Katarina, et al.
(författare)
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Headache in schoolchildren : association with other pain, family history and psychosocial factors
- 2005
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Ingår i: Pain. - : Elsevier. - 0304-3959 .- 1872-6623. ; 119:1-3, s. 150-158
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Tidskriftsartikel (refereegranskat)abstract
- Limited information exist about associations between different headache types and other pains, family history of pain, and psychosocial factors among children from the general population suffering from less severe headache. We interviewed 130 schoolchildren together with a parent to find out whether such factors differ between children with mainly infrequent and moderate migraine or tension-type headache as compared to those without primary headache. Children with headache, especially those with migraine reported other pains and physical symptoms more frequently than children without primary headache. Coherently, parents of children suffering from migraine reported their children to have significantly more somatic symptoms than parents of children without primary headache. In addition, first-degree relatives of children with headache suffered from more migraine, other pains, and physical symptoms compared with first-degree relatives of children without primary headache. Children with migraine visited the school nurse, used medication and were absent from school because of headache more often than those with tension-type headache. Few other differences in psychosocial factors were found between the three groups. Migraine among first-degree relatives and the total sum of physical symptoms in children were the strongest predictors of headache in logistic regression analysis. It is concluded that in schoolchildren with mainly infrequent and moderate headache, pain and physical symptoms cluster within individuals as well as their families, however, psychological and social problems are uncommon.
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| 40. |
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| 41. |
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| 42. |
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| 43. |
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| 44. |
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| 45. |
- Lourenço Dos Santos, Sofia, et al.
(författare)
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Oxidative proteome alterations during skeletal muscle ageing
- 2015
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Ingår i: Redox Biology. - : Elsevier BV. - 2213-2317. ; 5, s. 267-274
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Tidskriftsartikel (refereegranskat)abstract
- Sarcopenia corresponds to the degenerative loss of skeletal muscle mass, quality, and strength associated with ageing and leads to a progressive impairment of mobility and quality of life. However, the cellular and molecular mechanisms involved in this process are not completely understood. A hallmark of cellular and tissular ageing is the accumulation of oxidatively modified (carbonylated) proteins, leading to a decreased quality of the cellular proteome that could directly impact on normal cellular functions. Although increased oxidative stress has been reported during skeletal muscle ageing, the oxidized protein targets, also referred as to the 'oxi-proteome' or 'carbonylome', have not been characterized yet. To better understand the mechanisms by which these damaged proteins build up and potentially affect muscle function, proteins targeted by these modifications have been identified in human rectus abdominis muscle obtained from young and old healthy donors using a bi-dimensional gel electrophoresis-based proteomic approach coupled with immunodetection of carbonylated proteins. Among evidenced protein spots, 17 were found as increased carbonylated in biopsies from old donors comparing to young counterparts. These proteins are involved in key cellular functions such as cellular morphology and transport, muscle contraction and energy metabolism. Importantly, impairment of these pathways has been described in skeletal muscle during ageing. Functional decline of these proteins due to irreversible oxidation may therefore impact directly on the above-mentioned pathways, hence contributing to the generation of the sarcopenic phenotype.
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| 46. |
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| 47. |
- Lundberg, Staffan, et al.
(författare)
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Hippocampal region asymmetry assessed by 1H-MRS in rolandic epilepsy
- 2003
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Ingår i: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 44:2, s. 205-210
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: In a previous study, we reported hippocampal abnormalities on magnetic resonance imaging (MRI) in six of 18 children with rolandic epilepsy (RE). In this study, metabolic changes were analyzed in the hippocampal region with proton magnetic resonance spectroscopy (1H-MRS). METHODS: In 13 children with electroclinically typical RE and 15 healthy controls, 1H-MRS results of both hippocampal regions were analyzed. The voxels, 2 x 2 x 4-cm each, were placed to include the head and body of the hippocampus. A PRESS sequence with TR 2,000 ms and TE 32 ms was used. Total N-acetylaspartate (tNAA), glutamine and glutamate (Glx), and choline compounds (tCho) were related to total creatine (tCr), and asymmetry indices (AIs) were calculated. MRI was performed in all 13 patients and in 13 controls. RESULTS: The tNAA/tCr AI of the hippocampal region was significantly higher in children with RE than in control children (z = 4.49; p < 0.001). The AIs of Glx/tCr and tCho/tCr did not show a significant difference between the groups. Lateralization of the interictal epileptiform activity corresponded with the lower tNAA/tCr ratio in 10 of 13 patients. MRI revealed a hippocampal asymmetry in four of 13 in the RE group, three of them showed concordance between the lateralization of the lower tNAA/tCr ratio and the smaller hippocampus. In the control group, a subtle asymmetry in four of 13 children was found. CONCLUSIONS: A significant asymmetry of the hippocampal regions, measured by tNAA/tCr ratios, indicates an abnormal neuronal function in children with RE.
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| 48. |
- Lundberg, Staffan, 1956-
(författare)
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Rolandic Epilepsy : A Neuroradiological, Neuropsychological and Oromotor Study
- 2004
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Rolandic epilepsy (RE) is the most common focal epilepsy syndrome in the pediatric age group with an onset between 3 and 13 years. The syndrome is defined by electro-clinically typical features and has been considered benign according to seizure remission before the age of 16 years.The aim of this thesis was to investigate children with typical RE with different methods and to discuss the delineation of the syndrome. Thirty-eight children, aged 6–14 years, participated in one up to four studies.Eighteen children were investigated with MRI. Hippocampal abnormalities were found in six (33%), volume asymmetry in five (28%) and high signal intensities on T2-weighted images in three (17%). Additionally, high signal intensities in T2-weighted images were revealed subcortically in temporal and frontal lobes bilaterally in five children (28%).The hippocampal region was evaluated metabolically using proton magnetic resonance spectroscopy (1H-MRS) in 13 children with RE and 15 matched controls. A metabolic asymmetry of the hippocampal regions was found in the patients compared to controls indicating an abnormal neuronal function.Seventeen children with RE and 17 matched controls were investigated with a neuropsychological test battery. The RE children showed lower performance in auditory-verbal tests and in executive functions compared to controls.Twenty RE children and 24 controls were assessed concerning their oromotor function. The RE children had greater problems concerning tongue movements including articulation. A dichotic listening test was also performed in a subgroup showing poorer results in the RE group. A simple classification is proposed with RE ‘pure’ as the main group and the frame for this study.In conclusion, these investigations disclosed various abnormalities in children with RE, challenging the benign concept during the active phase. It is assumed that maturational factors comprise causal mechanism to the deviant findings, which probably successively will normalize.
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| 49. |
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| 50. |
- Mefford, Heather C, et al.
(författare)
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Rare copy number variants are an important cause of epileptic encephalopathies
- 2011
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Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 70:6, s. 974-985
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE:Rare copy number variants (CNVs)-deletions and duplications-have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed.METHODS:We evaluated 315 patients with epileptic encephalopathies characterized by epilepsy and progressive cognitive impairment for rare CNVs using a high-density, exon-focused, whole-genome oligonucleotide array.RESULTS:We found that 25 of 315 (7.9%) of our patients carried rare CNVs that may contribute to their phenotype, with at least one-half being clearly or likely pathogenic. We identified 2 patients with overlapping deletions at 7q21 and 2 patients with identical duplications of 16p11.2. In our cohort, large deletions were enriched in affected individuals compared to controls, and 4 patients harbored 2 rare CNVs. We screened 2 novel candidate genes found within the rare CNVs in our cohort but found no mutations in our patients with epileptic encephalopathies. We highlight several additional novel candidate genes located in CNV regions.INTERPRETATION:Our data highlight the significance of rare CNVs in the epileptic encephalopathies, and we suggest that CNV analysis should be considered in the genetic evaluation of these patients. Our findings also highlight novel candidate genes for further study.
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