| 1. |
- Abrahamsson, Kate, 1959, et al.
(author)
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Estimation of renal function in children and adolescents with spinal dysraphism.
- 2008
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In: The Journal of urology. - : Ovid Technologies (Wolters Kluwer Health). - 1527-3792 .- 0022-5347. ; 179:6, s. 2407-9
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Journal article (peer-reviewed)abstract
- PURPOSE: In children with spinal dysraphism such as myelomeningocele the relation between muscle mass and body composition varies considerably. Therefore, it is difficult to evaluate the relevance of renal function assessments done with serum creatinine. Since serum cystatin C has been suggested to be independent of body size and composition, this evaluation was compared to chromium(51) edetic acid clearance. MATERIALS AND METHODS: Simultaneous measurements of cystatin C and chromium(51) edetic acid clearance were performed prospectively in 65 patients 2 to 19 years old with spinal dysraphism. RESULTS: Cystatin C values were within the normal range in all patients, while chromium(51) edetic acid clearance was reduced in 10. A significant relation was seen. CONCLUSIONS: Using chromium(51) edetic acid clearance as a gold standard, children with spinal dysraphism and slightly to moderately reduced renal function may remain undiagnosed if cystatin C is used for evaluation.
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| 2. |
- Abrahamsson, Kate, 1959, et al.
(author)
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Urodynamic findings in children with myelomeningocele after untethering of the spinal cord
- 2007
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In: J Urol. - : Ovid Technologies (Wolters Kluwer Health). - 0022-5347. ; 177:1
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Journal article (peer-reviewed)abstract
- PURPOSE: The effect on bladder function of tethered spinal cord release in individuals with myelomeningocele differs in published studies, and the benefit has been the subject of debate. We studied the urodynamic findings in a consecutively treated population. MATERIALS AND METHODS: Of 120 children born with myelomeningocele between 1986 and 1999, 20 underwent surgery for the tethered cord syndrome at a median age of 8 years (range 2 to 13). Time points for cystometry used for comparison were before symptoms at a median age of 20 months (range 9 to 106), a median of 5 months preoperatively (1 to 33) and at 12 months postoperatively (6 to 19). Severe bladder dysfunction was defined as basal pressure more than 40 and/or overactivity greater than 60 cm H2O, moderate dysfunction as basal pressure 20 to 40 and/or overactivity 20 to 60 cm H2O, and mild dysfunction as basal pressure less than 20 cm H2O. RESULTS: Of the 20 patients who underwent untethering 7 had improvement to a milder dysfunctional level, while 1 deteriorated postoperatively. Six patients experienced deterioration in bladder dysfunction level before untethering, and all returned to a milder level afterward. A total of 10 patients had unchanged bladder dysfunction before symptoms and preoperatively. Of these patients 9 (90%) continued unchanged after untethering, while 1 deteriorated. CONCLUSIONS: After untethering secondary to myelomeningocele 35% of the patients experienced improved bladder function and 5% deteriorated. All of the patients who deteriorated before untethering improved afterward, and 90% of those who were stable preoperatively continued to be stable postoperatively. Therefore, regular evaluation of bladder function in children with myelomeningocele should be performed.
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| 3. |
- Borg, Helena, et al.
(author)
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Impact of spinal cord malformation on bladder function in children with anorectal malformations.
- 2009
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In: Journal of pediatric surgery. - : Elsevier BV. - 1531-5037 .- 0022-3468. ; 44:9, s. 1778-85
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Journal article (peer-reviewed)abstract
- PURPOSE: Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients. MATERIAL AND METHODS: The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation. RESULTS: In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord. CONCLUSION: From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.
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| 4. |
- Carlsson, Malin, et al.
(author)
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Behaviour in children with cerebral palsy with and without epilepsy.
- 2008
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In: Developmental medicine and child neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 50:10, s. 784-9
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Journal article (peer-reviewed)abstract
- The aim of the study was to describe behavioural problems in children with cerebral palsy (CP) with and without epilepsy. The children were sampled from the Western Sweden CP register and were part of a European Union project. The Strength and Difficulties Questionnaire and questions on epilepsy were answered by one parent of each child. Medical records were reviewed. Parents of 83 children (44 males, 39 females) age range participated: 30 at Gross Motor Function Classification System levels I and II, and 53 at levels III to V; 60 had spastic age range 8 to 12 years (bilateral 42, unilateral 18) and 23 dyskinetic CP; 34 children had active epilepsy. The proportion of children with normal behaviour on the total difficulties score (TDS) of the Strength and Difficulties Questionnaire was significantly lower than normative data (57% vs 80%, p<0.001). Parents of 21 children (25%) considered their child's behaviour to be abnormal. Children with CP and epilepsy had a significantly higher median TDS (p=0.03) than seizure-free children. In children with aided or no walking ability, the TDS was significantly higher in those with epilepsy (p=0.04). Parents of 32 children (39%) considered their children's behaviour to have an impact on themselves and others. We conclude that behavioural problems are common in children with CP, and even more when epilepsy is present. Parents identify these problems, and professionals need to address them.
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| 5. |
- Chioza, B., et al.
(author)
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Evaluation of CACNA1H in European patients with childhood absence epilepsy
- 2006
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In: Epilepsy Res. - : Elsevier BV. - 0920-1211. ; 69:2, s. 177-81
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Journal article (peer-reviewed)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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| 6. |
- Danielsson, Susanna, 1964, et al.
(author)
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Epilepsy in young adults with autism: a prospective population-based follow-up study of 120 individuals diagnosed in childhood.
- 2005
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In: Epilepsia. - : Wiley. - 0013-9580 .- 1528-1167. ; 46:6, s. 918-923
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Journal article (peer-reviewed)abstract
- PURPOSE: Little is known about the long-term outcome of epilepsy in autism and the epilepsy characteristics of adults with autism. This prospective population-based study was conducted in an attempt to point out differences on a group basis between adults with autism with or without epilepsy, and to describe the occurrence, the seizure characteristics, and the outcome of epilepsy in autism. METHODS: One hundred eight of 120 individuals with autism diagnosed in childhood and followed up prospectively for a period of 13-22 years were reevaluated at ages 17-40 years. As adults, the majority had mental retardation and autistic disorder or autistic-like condition. Interviews were performed with the caretakers of 42 of 43 individuals with a history of epilepsy, and their medical records were reviewed. RESULTS: Adults with autism and mental retardation constituted a severely disabled group. On a group basis, both the cognitive level and the adaptive behavior level were lower in the epilepsy group than in the nonepilepsy group (p<0.05). In all, 38% had epilepsy. One third had epilepsy onset before age 2 years. Remission of epilepsy was seen in 16%. Partial seizures with or without secondarily generalized seizures were the dominating seizure type. CONCLUSIONS: In a community sample of individuals with autism followed up from childhood through to adult age, one of three had epilepsy since childhood/adolescence. Severe mental retardation and autism are significantly associated with epilepsy, especially in female patients. Seizure frequency has a great impact on the individuals' lives. Specialist medical care is needed in this severely communication-disabled population.
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| 7. |
- Danielsson, Susanna, 1964, et al.
(author)
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Lack of effects of vagus nerve stimulation on drug-resistant epilepsy in eight pediatric patients with autism spectrum disorders: a prospective 2-year follow-up study.
- 2008
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In: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050. ; 12:2, s. 298-304
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Journal article (peer-reviewed)abstract
- Vagus nerve stimulation (VNS) therapy has been reported to reduce seizure frequency in some children with drug-resistant epilepsy who are not suitable candidates for epilepsy surgery. It has been suggested that there may be positive cognitive and/or behavioral effects independent of seizure control. We describe the effects of VNS with respect to seizure frequency, cognition, and autistic symptoms and behavior in eight children and adolescents with medically intractable epilepsy and autism. In comparison to baseline, seizure frequency had not decreased in anyone in our series at the 2-year follow-up. In three cases, minor improvements in general functioning were noted, but there were no positive cognitive effects. This open prospective pilot study highlights the need for more prospective studies to prevent false expectations of improvement in this severely disabled group.
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| 8. |
- Danielsson, Susanna, 1964, et al.
(author)
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Psychopathology, psychosocial functioning, and IQ before and after epilepsy surgery in children with drug-resistant epilepsy.
- 2009
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In: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050. ; 14:2, s. 330-337
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Journal article (peer-reviewed)abstract
- This is a prospective study of a consecutive series of children undergoing epilepsy surgery. The main aims were to evaluate the heterogeneity with respect to psychopathology and IQ, and to use a global assessment scale (Children's Global Assessment Scale [CGAS]) to evaluate psychosocial functioning. Clinical neuropsychiatric and neuropsychological assessments were made at baseline and at the 2-year follow-up in 24 patients, and changes were analyzed at an individual level. Psychiatric disorders (mainly attention deficit hyperactivity disorder and/or autism spectrum disorders) were found in 17 of 24 at some point. All except one child with psychiatric diagnoses before surgery still had at least one diagnosis at follow-up. Intellectual ability remained stable in the majority of cases, both in individuals with and in individuals without mental retardation. The CGAS illustrated the consequences of the extensive comorbidity in this cohort. The behavioral problems had been undiagnosed despite parental concern in many cases, indicating an unrecognized need for services for children with drug-resistant epilepsy.
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| 9. |
- Everett, K. V., et al.
(author)
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Linkage and association analysis of CACNG3 in childhood absence epilepsy
- 2007
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In: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
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Journal article (peer-reviewed)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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| 10. |
- Lindehall, Birgitta, 1946, et al.
(author)
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Complications of clean intermittent catheterization in young females with myelomeningocele: 10 to 19 years of followup
- 2007
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In: J Urol. - 0022-5347. ; 178:3 Pt 1, s. 1053-5
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Journal article (peer-reviewed)abstract
- PURPOSE: We evaluated the rate of complications associated with catheterization and the risk of urethral lesions in girls with myelomeningocele treated with clean intermittent catheterization for a minimum of 10 years. MATERIALS AND METHODS: We examined the medical records of 31 females with myelomeningocele followed from the start of clean intermittent catheterization until age 11 to 20 years. Catheterization had been performed for a median of 15 years (range 10 to 19). Altogether, catheterization was used for a total of 459 patient-years. Noncoated polyvinyl chloride catheters were used in all cases. Anticholinergic treatment was given during 176 of the patient-years. RESULTS: Complications of catheterization were recorded in 13 patients on 20 occasions. Macroscopic hematuria was seen in 4 individuals. In 2 patients the hematuria was caused by urethral polyps that were cured by resection. Difficulties with catheterization occurred in 12 patients. The problems were solved by temporary use of lubrication or by other minor changes in management. There were no difficulties recorded after puberty. The risk of difficulties at catheterization doubled with the use of a Ch8 to Ch10 catheter compared to a Ch12 or larger catheter, and doubled during assisted clean intermittent catheterization compared to clean intermittent self-catheterization. CONCLUSIONS: There were remarkably few problems associated with clean intermittent catheterization in these females with myelomeningocele, despite long treatment periods and use of noncoated polyvinyl chloride catheters. Clean intermittent self-catheterization and large size catheters were associated with few complications.
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