| 1. |
- Carlsson, Göran, 1951, et al.
(författare)
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Verbal and non-verbal function of children with right- versus left-hemiplegic cerebral palsy of pre- and perinatal origin.
- 1994
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 36:6, s. 503-12
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Tidskriftsartikel (refereegranskat)abstract
- Eighteen children with right- and 13 with left-sided congenital hemiplegia were compared with 19 normal age-matched controls for verbal and non-verbal function. CT scans were obtained from 27 of the 31 hemiplegic children. The two hemiplegic groups were impaired in non-verbal function compared with controls. The right-hemiplegic group was more impaired in verbal function than the left-hemiplegic group and controls; however, impairments were restricted to the girls in the right-hemiplegic group. The results are discussed in terms of cerebral plasticity and functional reorganisation of cognitive functions after an early unilateral injury. It is argued that girls with left-hemisphere lesions may be more limited in cerebral plasticity than boys.
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| 2. |
- Kollberg, Gittan, 1963, et al.
(författare)
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POLG1 mutations associated with progressive encephalopathy in childhood.
- 2006
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Ingår i: Journal of neuropathology and experimental neurology. - : Oxford University Press (OUP). - 0022-3069 .- 1554-6578. ; 65:8, s. 758-68
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Tidskriftsartikel (refereegranskat)abstract
- We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia compatible with Alpers-Huttenlocher syndrome. Three families harbored a previously reported A467T substitution, which was found in compound with the earlier described G848S or the W748S substitution or a novel R574W substitution. Two families harbored the W748S change in compound with either of 2 novel mutations predicted to give an R232H or M1163R substitution. Muscle morphology showed mitochondrial myopathy with cytochrome c oxidase (COX)-deficient fibers in 4 patients. mtDNA analyses in muscle tissue revealed mtDNA depletion in 3 of the children and mtDNA deletions in the 2 sibling pairs. Neuropathologic investigation in 3 children revealed widespread cortical degeneration with gliosis and subcortical neuronal loss, especially in the thalamus, whereas there were only subcortical neurodegenerative findings in another child. The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.
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| 3. |
- Kristjánsdóttir, Ragnhildur, et al.
(författare)
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Ophthalmological abnormalities in children with cerebral white matter disorders.
- 2002
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1090-3798. ; 6:1, s. 25-33
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Tidskriftsartikel (refereegranskat)abstract
- The use of magnetic resonance imaging (MRI) in children with severe neurological impairment has defined a subgroup with increased T2-signals from cerebral white matter. The causes of white matter abnormalities are for the most part unknown, despite extensive investigation. Their clinical correlates and characteristics have still to be systematically analysed and described. We have compared clinical, ophthalmological and electro-ophthalmological findings in such children to delineate neurological and MRI patterns and have sought to correlate with the progression of disease. Clinical and electro-ophthalmological investigations were performed in 26 children with cerebral white matter abnormalities of unknown aetiology; 25 of the 26 children showed abnormalities, 23 clinical and 18 electro-ophthalmological. Optic nerve abnormalities, severe visual impairment and strabismus were the most common. Electro-ophthalmological abnormalities were increased latencies and abnormal waveform of the visual evoked potentials (VEP). Children with progressive disease all had abnormal VEP, whereas none of the ten children with a normal VEP deteriorated. We conclude that children with cerebral white matter abnormalities almost invariably had ophthalmological and often VEP abnormalities. Normal VEP was correlated with non-progressive disorder, as was hypoplasia or malformation of the papilla, whereas abnormal VEP were associated with progressive disease.
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| 4. |
- Lindquist, Barbro, 1950, et al.
(författare)
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Cognitive functions in children with myelomeningocele without hydrocephalus.
- 2009
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Ingår i: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. - : Springer Science and Business Media LLC. - 1433-0350. ; 25:8, s. 969-75
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The aim of this study was to explore the separate effects of myelomeningocele (MMC) and hydrocephalus on intelligence and neuropsychological functions in a population-based series of children. MATERIAL AND METHODS: Of the 69 children with MMC born in 1992-1999 in western Sweden, nine did not develop hydrocephalus. Eight of them participated in this study and were compared with age- and gender-matched children with MMC in combination with hydrocephalus and with controls. RESULTS: Children with only MMC had an IQ of 103 compared with 75 in those with hydrocephalus added to the MMC and they had significantly better immediate and long-term memory and executive functions. When compared with controls, they had difficulty with learning and executive functions, but when the two children with an IQ of <70 were excluded, those with only MMC performed just as well as the controls. CONCLUSION: Hydrocephalus rather than MMC in itself appeared to cause the cognitive deficits found in children with MMC.
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| 5. |
- Lindquist, Barbro, 1950, et al.
(författare)
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Learning, memory and executive functions in children with hydrocephalus.
- 2008
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Ingår i: Acta paediatrica (Oslo, Norway : 1992). - : Wiley. - 0803-5253 .- 1651-2227. ; 97:5, s. 596-601
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Tidskriftsartikel (refereegranskat)abstract
- AIMS: To explore learning, memory and executive abilities in children with hydrocephalus without learning disabilities, and to find out whether children with an isolated hydrocephalus differed from those with hydrocephalus in combination with myelomeningocele (MMC). METHODS: Thirty-six children with an intelligence quotient (IQ) of >or=70 from a population of all the 107 children with hydrocephalus born in western Sweden in 1989-1993 were examined and compared with age- and gender-matched controls. The neuropsychological assessment of the school-aged child (NIMES) test battery was used. RESULTS: The children with hydrocephalus differed significantly from controls in all functions apart from registration skills and recognition. Learning, memory and executive functions were all impaired. Twenty children with infantile hydrocephalus did not differ from those with hydrocephalus associated with MMC. Also, children with an IQ of >84 performed significantly worse than controls. CONCLUSIONS: Despite an IQ of >or=70, children with hydrocephalus had significantly impaired learning, memory and executive functions. When major brain lesions resulting in learning disability had been excluded, the hydrocephalus, rather than the underlying aetiology, was most important for the development of cognitive functions.
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| 6. |
- Sjöström, Anders, 1951, et al.
(författare)
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The light-flash-evoked response as a possible indicator of increased intracranial pressure in hydrocephalus.
- 1995
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Ingår i: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. - 0256-7040. ; 11:7
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Tidskriftsartikel (refereegranskat)abstract
- Surgical treatment of infantile hydrocephalus by shunt implantation may result in suboptimal intracranial pressure. Major neurological impairments and death are usually prevented by shunt treatment, but minor sequelae may persist or develop. The introduction of adjustable shunts has improved the possibilities of optimizing shunt function and minimizing the risk of such impairments. However, it is still impossible to determine the intracranial pressure without invasive measurements. Clinical findings and procedures such as computed tomography (CT) are not always enough to allow a conclusion as to whether a child's signs and symptoms are the result of suboptimal intracranial pressure (shunt dysfunction) or are of another etiology. With the aim of reducing the number of invasive pressure measurements and CT scans, we investigated the effect of increased intracranial pressure on the visual evoked response (VER). Binocular light flash stimuli of supramaximal intensity were used and VER recordings were performed from Oz and Cz. The VER results from a group of 31 infants and children with hydrocephalus and 2 children with pseudotumor cerebri were compared with responses from a control group of 35 healthy children. The results show that a subpotential, P' (P-prime), usually just preceding P1 (P100), had an increased latency ( > 96 ms) in all hydrocephalic children before surgery. The P' latency in this group was usually even above 110 ms. The latencies of other VER potentials were also increased but not as consistently as P'. After surgical intervention the VER latencies decreased and usually normalized. The P' latency in four children in the control group was just above the borderline latency, but was less than 110 ms.(ABSTRACT TRUNCATED AT 250 WORDS)
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| 7. |
- Viggedal, Gerd, 1950, et al.
(författare)
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Intelligence two years after epilepsy surgery in children.
- 2013
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Ingår i: Epilepsy & Behavior. - : Elsevier BV. - 1525-5050. ; 29:3, s. 565-70
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Tidskriftsartikel (refereegranskat)abstract
- Intelligence before and two years after epilepsy surgery was assessed in 94 children and adolescents and related to preoperative IQ and seizure outcome. The median full-scale IQ was 70 before and two years after surgery. The proportion with a higher or unchanged postoperative IQ was 24 of 49 (49%) of those with an IQ of 70 and more before surgery, nine of 17 (53%) of those with an IQ of 50-69, and ten of 28 (36%) of those with an IQ of less than 50. A significant difference was found between the 47 individuals who became seizure-free and the 47 with persisting seizures, as 60% of the seizure-free children had a higher or unchanged IQ compared with 32% of the 47 who were not seizure-free. The cognitive outcome of children with intellectual disabilities was as good as that of children with average IQ. Thus, they should not be excluded from epilepsy surgery on the basis of low intellectual level.
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| 8. |
- Annika, Johansson, et al.
(författare)
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Obstetric brachial plexus palsy - A prospective, population-based study of incidence, recovery and long-term residual impairment at 10 to 12 years of age.
- 2019
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Ingår i: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. - : Elsevier BV. - 1532-2130. ; 23:1, s. 87-93
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Tidskriftsartikel (refereegranskat)abstract
- To assess the long-term outcome and evaluate prognostic factors in obstetric brachial plexus palsy (OBPP).Of all 114 children with OBPP born in western Sweden in 1999-2001, 98 (61 males, 37 females) were invited to participate. A questionnaire on the symptoms of the OBPP was sent out and those with persisting symptoms were examined in terms of muscle strength, range of motion (ROM), activities of daily living (ADL), pain and sensibility at the age of 10-12years. Contact was made by 87 children.The incidence of persisting OBPP at 10-12 years of age was calculated as 19 per 38,749 live births or 0.49 per 1000. Symptoms were reduced muscle strength and ROM in the arm. Eight children reported pain, four had impaired sensibility and ten children described some difficulties in ADL. Muscle strength in forearm supination, shoulder external rotation and elbow flexion at three months of age can be used to predict outcome.Most children with an OBPP recover completely, but one in five has symptoms of the injury at 10-12 years of age. Muscle strength in the arm at three months of age can be used to predict outcome.
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| 9. |
- Aring, Eva, 1959, et al.
(författare)
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Strabismus, binocular functions and ocular motility in children with hydrocephalus.
- 2007
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Ingår i: Strabismus. - : Informa UK Limited. - 0927-3972 .- 1744-5132. ; 15:2, s. 79-88
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To investigate heterotropia, heterophoria, head posture, nystagmus, stereo acuity, ocular motility and near point of convergence (NPC) in children with hydrocephalus treated surgically before 1 year of age. In addition, the effects of being born with hydrocephalus, the effect of the etiology of hydrocephalus, number of shunt revisions and the size of the ventricles on these variables were studied. METHODS: A population-based study was performed in 75 children and the results were compared with the results of an age- and sex-matched group (comp group) (n = 140). RESULTS: Heterotropia 68.9% (comp group 3.6%; p < 0.001), abnormal head posture 41.3% (comp group 0; p < 0.001), nystagmus 44.0% (comp group 0; p < 0.001), stereo acuity < or =60'' 33.8% (comp group 97.1%; p < 0.001) and ocular motility defects 69.7% (comp group 0.7%; p < 0.001) were more common among children with hydrocephalus than in the comparison group. Children with overt hydrocephalus at birth had significantly more heterotropia (p = 0.0006), esotropia (p = 0.002), abnormal head posture (p = 0.02) and motility defects (p = 0.003) compared to those with hydrocephalus developing during the first year of life. The etiology, number of shunt revisions and the size of the ventricles had no significant effect on any of the investigated variables. CONCLUSIONS: Children with hydrocephalus surgically treated before the age of one year commonly present orthoptic abnormalities. The etiology of hydrocephalus, number of shunt revisions and ventricle size seem to be of minor importance compared with the age of onset of hydrocephalus with regard to the risk for orthoptic abnormalities.
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| 10. |
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| 11. |
- Beckung, Eva, 1950, et al.
(författare)
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Cerebral pares, inkl allmänna synpunkter på habiliternig.
- 2015
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Ingår i: Rehabiliteringsmedicin. J Borg, K Borg, B Gerdle och K Stibrant Sunnerhagen (red.). - Lund : Studentlitteratur AB. - 9789144101965 ; , s. 361-374
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Bokkapitel (refereegranskat)
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| 12. |
- Beckung, Eva, 1950, et al.
(författare)
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Hidden dysfunction in childhood epilepsy.
- 1997
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 39:2, s. 72-8
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Tidskriftsartikel (refereegranskat)abstract
- Sensory and motor function were evaluated in 84 children and adolescents with epilepsy but not additional neuroimpairments such as mental retardation or cerebral palsy. The influence of sex, age, age at onset of epilepsy, duration, seizure type and frequency and medication was analysed. The Bruininks-Oseretsky Test of Motor Proficiency and the EB (Eva Beckung) test were used. We found significant dysfunction in gross as well as in fine motor functions. The most obvious deviation from normal was noted in gross motor function, mainly in the areas of running speed, balance, response speed and bilateral coordination, but also in upper-limb speed, dexterity and coordination. Boys performed better than girls. Motor function scores improved with age but sensory and motor problems persisted in the teenage years. Early onset and a long duration of the epilepsy were associated with significantly more sensory and motor difficulties. The children on monotherapy performed significantly better than the children on polytherapy and, surprisingly, also better than those without antiepileptic medication. Sensory and motor function should be carefully investigated in the context of a comprehensive rehabilitation programme for children with epilepsy.
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| 13. |
- Beckung, Eva, 1950, et al.
(författare)
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Impairments, disabilities and handicaps in children and adolescents with epilepsy.
- 1997
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Ingår i: Acta paediatrica (Oslo, Norway : 1992). - 0803-5253. ; 86:3, s. 254-60
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Tidskriftsartikel (refereegranskat)abstract
- The patterns of motor and sensory impairments, disabilities and handicap were assessed in 217 children and adolescents with epilepsy. Motor and sensory dysfunctions were found to be common even in children without major additional neurodisorders such as cerebral palsy and mental retardation. Handicap was most severe in the dimensions of physical independence and orientation and increased significantly with duration of epilepsy. It was more severe when the onset of seizures was early and when secondary generalized seizures were present. Handicap was significantly reduced after epilepsy surgery.
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| 14. |
- Beckung, Eva, 1950, et al.
(författare)
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Motor and sensory dysfunctions in children with mental retardation and epilepsy.
- 1997
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Ingår i: Seizure : the journal of the British Epilepsy Association. - 1059-1311. ; 6:1, s. 43-50
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to assess motor and sensory functions in a population-based series of 88 mentally retarded children with epilepsy. A new standardized physiotherapy protocol was developed for the heterogeneous population of children with epilepsy; the Cailler-Azusa scale was also found to be useful. For children with cerebral palsy, the gross motor function measure was used. Sensorimotor impairments, resulting in disabilities and handicap, were found to be very common but often overlooked and neglected. Sensorimotor dysfunctions need to be identified in order to provide rational training, understanding and care to children with epilepsy and mental retardation.
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| 15. |
- Beckung, Eva, 1950, et al.
(författare)
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Motor and sensory impairments in children with intractable epilepsy.
- 1993
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Ingår i: Epilepsia. - 0013-9580. ; 34:5, s. 924-9
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Tidskriftsartikel (refereegranskat)abstract
- During a 3-year period (1988-1991), 72 children with severe intractable epilepsy were studied. A standardized protocol for assessment of motor and sensory function was designed for school age children. Function was quantified on a 4-point scale on 47 items, including gross motor function, balance, coordination, strength, range of motion (ROM), velocity, fine motor function, sensation, perception, and neurologic tests. Classification of handicaps according to World Health Organization (WHO) definitions was performed. Videotape documentation completed the assessment. Evaluation of treatment services showed that provision of rehabilitation services had been insufficient and provided only for children with additional major movement disorders, mainly cerebral palsy (CP) cases. To minimize the handicap in children with severe epilepsy, it is essential to clarify the total sensorimotor impairment pattern, including balance, coordination, and perceptual capacity. Impairments in these functions are, as shown in this study, frequent and exist independent of major disabilities such as mental retardation or cerebral palsy. When several neuroimpairments were identified, a multiplicative rather than an additive effect on the total handicap was evident.
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| 16. |
- Beckung, Eva, 1950, et al.
(författare)
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The effects of epilepsy surgery on the sensorimotor function of children.
- 1994
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 36:10, s. 893-901
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Tidskriftsartikel (refereegranskat)abstract
- The motor and sensory functions of 50 children were investigated before and six months after epilepsy surgery; 34 infants were assessed 24 months after surgery. Postoperatively, 20 children were seizure-free and 22 had a significant reduction of seizures. Epilepsy surgery was found to be an effective mode of treatment for intractable seizures in childhood, even in multiply handicapped individuals. Motor and sensory functions did not deteriorate after surgery; in fact, significant improvements were found in more than half of the children, including those with multiple handicaps. Improvements were most obvious in the seizure-free group, but were also noted in those with reduced seizure frequency. The younger children benefited more from surgery as regards sensorimotor function than did older children and adolescents.
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| 17. |
- Beckung, Eva, 1950, et al.
(författare)
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The natural history of gross motor development in children with cerebral palsy aged 1 to 15 years
- 2007
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Ingår i: Dev Med Child Neurol. - 0012-1622. ; 49:10, s. 751-6
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to explore motor development in children with cerebral palsy (CP) using developmental curves for CP, subtypes, and the five severity levels of the Gross Motor Function Classification System (GMFCS). The Gross Motor Function Measure (GMFM) and the GMFCS were applied to 317 children (145 females, 172 males) with CP, aged between 1 and 15 years. The CP type distribution was spastic diplegia in 157 (49%), spastic hemiplegia in 101 (33%), spastic tetraplegia in 11 (3%), dyskinesia in 38 (12%), and ataxia in 10 (3%). Forty-five physiotherapists were trained in the GMFM and intra- and interrater reliability was tested. The GMFM was measured prospectively every 6 months up to the age of 4 years and once a year thereafter. Developmental curves were constructed for 258 children with spastic CP. About three-quarters of the children at GMFCS Level I reached 90% of the maximum GMFM score at 5 years of age. The performance peaked at 7 years of age. Children at GMFCS Level II reached 90% at a median age of 5 years, which was also the upper limit, reached by about three-quarters at 7 years of age. The majority of children at GMFCS Level III reached 80% of the GMFM by 7 years of age and most of the children at GMFCS Level IV reached 30% at 5 years and remained there. The median score for children at GMFCS Level V was 20%. The intra- and interrater reliability for the GMFM 88 among physiotherapists were Spearman's rank correlation coefficient 0.91 and 0.99 respectively. There were 931 measurements with a median of 2 (1-11) per child. The gross motor development was demonstrated for the five GMFCS levels in children with spastic CP. These kind of curves may be useful for monitoring and predicting motor development, for planning treatment, and for evaluating outcome after interventions.
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| 18. |
- Belichenko, P, et al.
(författare)
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Dendritic morphology in epileptogenic cortex from TRPE patients, revealed by intracellular Lucifer Yellow microinjection and confocal laser scanning microscopy.
- 1994
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Ingår i: Epilepsy research. - 0920-1211. ; 18:3, s. 233-47
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Tidskriftsartikel (refereegranskat)abstract
- Biopsy material was obtained from cortical epileptogenic zones (eight temporal, one occipital, one parietal and one frontal) of eleven patients aged 1.5-47 years with therapy-resistant partial epilepsy (TRPE) undergoing epilepsy surgery. Control autopsy material (two temporal, two occipital, one parietal and one frontal) was removed from six neurologically healthy cases within 6-10 hours postmortem delay. In each specimen, 100-300 pyramidal and non-pyramidal neurons were visualized by intracellular Lucifer Yellow microinjection. Single neurons were imaged using CLSM generated serial optical sections; 2-D reconstruction of each neuron was made using z-projection of serial optical images, and 3-D reconstructions and rotations were computerized. Neuronal maps from TRPE biopsies, compared to control autopsies, show markedly increased numbers of dendritic abnormalities of single pyramidal and non-pyramidal neurons in layers I, II-III, V-VII, and in the subcortical white matter. The abnormalities include: (1) increased number of non-pyramidal cells in layer I; (2) many pyramidal cells with two or three dendrites originating apically, rather than one single apical dendrite, in layers II-III; (3) atypical orientation of oblique apical and basal dendrites in pyramidal neurons of layers II-VII; (4) increased number of atypical 'dinosaur-like' and fusiform cells in layers V-VII; (5) numerous neurons in the white matter. These abnormalities may be etiological in cases with early onset, and predisposing in cases with late onset.
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| 19. |
- Ben-Menachem, Elinor, 1945, et al.
(författare)
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Epilepsi
- 2011
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Ingår i: Läkemedelsboken 2011-2012. - Uppsala. : Läkemedelsverket. - 9789197960502 ; , s. 965-76
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Bokkapitel (refereegranskat)
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| 20. |
- Bjure, Jan, et al.
(författare)
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Regional cerebral blood flow abnormalities in Rett syndrome.
- 1997
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Ingår i: European child & adolescent psychiatry. - 1018-8827. ; 6 Suppl 1, s. 64-6
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Tidskriftsartikel (refereegranskat)abstract
- Sixteen Rett syndrome (RS) girls and 1 24 year old RS woman were compared with 16 neurologically healthy children as to the regional cerebral blood flow (rCBF). Hypoperfusion of the frontal lobes and parts of the midbrain was found in RS, with significant differences to controls at latest by the age of three to four years. The findings were in accordance with previous reports of morphological, neuroradiological and functional abnormalities in these areas, compatible with a statement that structures in the midbrain and in the frontal lobes may have particular pathophysiological relevance in RS.
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| 21. |
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| 22. |
- C:son Silander, H, et al.
(författare)
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Surgical treatment for epilepsy: a retrospective Swedish multicenter study.
- 1997
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Ingår i: Acta neurologica Scandinavica. - 0001-6314. ; 95:6, s. 321-30
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Tidskriftsartikel (refereegranskat)abstract
- The characteristics of patients suffering from drug resistant epilepsy, including the results of the preoperative evaluation and epilepsy surgery were retrospectively analyzed in a Swedish multicenter 10-year cohort of children and adults. Altogether 152 patients (65 children and 87 adults) treated during the period 1980-1990 in three epilepsy centers were included and followed-up 2 years after surgery. Median age at onset of seizures was 4 years for the children and 12 years for the adults. A localization related epilepsy was present in 85% of the children and in 95% of the adults. The mean number of seizure types in the children was 1.7 (range 1-4) and in the adults 1.8 (range 1-4). The median monthly seizure frequency was 52 and 15 for children and adults respectively. Resective surgery was performed in 143 cases (94 temporal, 31 extratemporal, 9 multilobar and 9 major resection procedures) and palliative procedures in 16 cases (13 callosotomies and 3 stereotactic amygdalotomies). Postoperative neurological deficits were detected in 9% of the patients after temporal lobe resections and in 15% of the patients after extratemporal and multilobar resection procedures. Two years after resective surgery 53% of the children and 49% of the adults were seizure free. Another 25% of the patients had a more than 50% reduction of seizure frequency. In the postoperative non seizure free group of patients there was a negative correlation between decrease in weighted seizure severity and decrease in seizure frequency. This finding stresses the need for including other parameters than seizure frequency when evaluating the outcome of epilepsy surgery.
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| 23. |
- Conradi, Nils, 1950, et al.
(författare)
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First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi.
- 1989
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Ingår i: Prenatal diagnosis. - 0197-3851. ; 9:4, s. 283-7
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Tidskriftsartikel (refereegranskat)abstract
- One of the most common hereditary, progressive encephalopathies in children--juvenile neuronal ceroid lipofuscinosis (NCL)--lacks methods for carrier detection and prenatal diagnosis. A transcervical chorionic villus biopsy was performed at 9 completed weeks in a fetus at high risk of this disease. The syncytiotrophoblast of the chorionic villi contained fingerprint inclusions similar to those observed in various cells from children with this disease. Together with previous reports of second-trimester diagnosis in a case with late-infantile NCL (MacLeod et al., 1984, 1985), the presence of typical inclusions in placental tissue sampled at term in the infantile NCL (Rapola et al., 1987) and the lack of pathological alterations in one fetus at high risk of juvenile NCL and without clinical and morphological signs of disease at the age of 15 months (Kohlschutter et al., 1989), our findings strongly indicate that an early prenatal diagnosis of (juvenile) NCL is possible.
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| 24. |
- Danielsson, Susanna, 1964, et al.
(författare)
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Temporal Lobe Resections in Children with Epilepsy: Neuropsychiatric Status in Relation to Neuropathology and Seizure Outcome.
- 2002
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Ingår i: Epilepsy & behavior : E&B. - 1525-5069. ; 3:1, s. 76-81
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this work was to relate clinical neuropsychiatric findings to histopathological diagnoses and seizure outcome in a retrospective study of 16 children undergoing temporal lobe resections due to medically intractable epilepsy. These children constitute a heterogeneous group in which neuropsychiatric symptoms were common. The results of this study indicate a correlation between malformations of cortical development, less chance of seizure freedom, and neuropsychiatric problems in children with pharmacoresistant temporal lobe epilepsy. It is important to include neuropsychiatric assessments pre- and postoperatively and to inform parents that symptoms of autism spectrum disorders may or may not be improved after epilepsy surgery.
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| 25. |
- Eksandh, Louise, et al.
(författare)
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Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
- 2000
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Ingår i: Ophthalmic genetics. - 1381-6810. ; 21:2, s. 69-77
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To investigate, using full-field ERG, the retinal function in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN(3) gene. METHODS: Batten disease status of five patients was confirmed by the presence of vacuolated lymphocytes in peripheral blood and the identification of mutations in the Batten disease gene (CLN(3)). Visual acuity, fundus appearance, and full-field ERG were examined in all patients (age 4-19 years). The examination was repeated in one patient after 16 months. RESULTS: Three unrelated patients were homozygous for the most common mutation in CLN(3), the 1.02 kb deletion; two patients (sisters) were heterozygous for the 1.02 kb deletion and an as yet unidentified mutation in the CLN(3) gene. Full-field ERG recordings in all five patients demonstrated no rod responses and only small remaining cone responses, which could be detected with 30 Hz-flicker stimulation. Re-examination of a six-year-old girl after 16 months revealed a fast progression of the retinal degeneration. CONCLUSION: Full-field ERG recordings in Batten disease patients, both homozygous and heterozygous for the 1.02 kb deletion in the CLN( 3) gene, confirm retinal degeneration to be severe, widespread, and with a rapid progression early in the disease course. The onset of visual failure may be delayed when compared to the classic disease course, particularly in patients who are not homozygous for the most common CLN(3) mutation, a 1.02 kb deletion. In that case, the disease progression in terms of other symptoms may also be further delayed.
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