Parent reported health related quality of life (HRQoL) and behaviour in young people with epilepsy before and two years after epilepsy surgery.

PURPOSE: The aim of this study was to compare parent-reported Health Related Quality of Life (HRQoL) and behaviour of young people before (baseline) and two years after paediatric epilepsy surgery (follow-up). METHODS: The parents of 107 children who underwent epilepsy surgery completed surveys focussing on different aspects of child HRQoL and behaviour at baseline and follow-up. Parents of children with multiple disabilities (n = 27) completed five additional questions focussing on child HRQoL. Changes in scores between baseline and follow-up were compared using Wilcoxon signed-rank tests. Factors associated with changes in scores were analyzed using linear regression. RESULTS: HRQoL and behaviour were significantly improved at follow-up (p < 0.001). HRQoL was also significantly improved for children with multiple disabilities (p = 0.003). Factors independently associated with improvement in HRQoL on multivariable analysis were lower baseline scores (p < 0.001), seizure-free status (p < 0.001) and improvement in behaviour (p = 0.022). Factors independently associated with improvement in behaviour were higher baseline difficulties (p < 0.001), reduction in antiepileptic drug (AED) usage, (p < 0.001), seizure-free status (p = 0.04), younger age (p = 0.03), and improvements in HRQoL (p = 0.028). CONCLUSION: Parent rated HRQoL and behaviour had improved two years after epilepsy surgery. Seizure freedom was associated with both improvements in HRQoL and behaviour. Additionally, a reduction in AED usage contributed to reduced behavioural difficulties. All children undergoing epilepsy surgery should undergo assessment of HRQoL and behaviour at baseline and follow-up.

Parent-reported symptoms of ADHD in young people with epilepsy before and two years after epilepsy surgery.

The aim was to compare parent-reported symptoms of attention-deficit/hyperactivity disorder (ADHD) before (baseline) and two years after pediatric epilepsy surgery (follow-up). The parents of 107 children who underwent epilepsy surgery completed surveys including the Conners 10-item scale at baseline and follow-up. Changes in scores between baseline and follow-up were compared using paired sample t-test. Factors associated with changes in scores were analyzed using linear regression. Features of ADHD were significantly reduced at follow-up (p < 0.001). Items with the greatest reduction were items focusing on core aspects of the diagnostic criteria for ADHD. Fewer children were in the at-risk range for ADHD on the Conners 10-item scale at follow-up but this did not reach statistical significance (49% vs. 43%; p = 0.481). Factors independently significantly associated with improvement in ADHD symptoms on multivariable analysis were higher baseline scores (p < 0.001), seizure-free status (p = 0.029), and right-sided surgery (p = 0.031). Children who undergo epilepsy surgery have a high rate of ADHD symptoms. Parent-rated symptoms of ADHD improved at 2-year follow-up after epilepsy surgery. All children undergoing epilepsy surgery should undergo assessment for ADHD at baseline and follow-up.

Quality of life in adults treated in infancy for hydrocephalus.

PURPOSE: The objective was to analyze quality of life in a very long-term follow-up study of now adult individuals, treated for hydrocephalus (without spina bifida) during infancy. METHODS: The entire series was population-based, and the subgroup under study consisted of the 29 individuals without intellectual disability, who consented to participate. About one third had concomitant mild cerebral palsy or epilepsy or both. A Finnish validated questionnaire, the 15D, was used to measure quality of life. RESULTS: There was no significant difference between the study group and the controls with regard to the total quality of life score. Individuals with associated cerebral palsy and/or epilepsy had a lower total score compared with both those without associated impairments and controls. Most participants differed from controls in the dimension of mental/memory function which pertains to executive functions, an ability of considerable importance for daily life skills. CONCLUSION: It is important to follow children with hydrocephalus over time--due to the different etiological panorama, interventions, and associated impairments this group displays. This is the only way to learn more about critical factors that require attention and that predict quality of life in adulthood.

The panorama of cerebral palsy in Sweden. XI. Changing patterns in the birth-year period 2003-2006.

AIM: To describe the epidemiology of cerebral palsy (CP) in western Sweden. METHODS: A population-based study covering 94 466 live births in the area in 2003-2006. Birth characteristics and neuroimaging findings were recorded, prevalence was calculated and aetiology was analysed. RESULTS: CP was found in 206 children, including postneonatal cases, corresponding to a crude prevalence of 2.18 per 1000 live births. The gestational age-specific prevalence for <28 gestational weeks was 71.4 per 1000 live births, while it was 39.6 for 28-31 weeks, 6.4 for 32-36 weeks and 1.41 per 1000 for >36 weeks. Hemiplegia accounted for 44%, diplegia for 29% and tetraplegia for 6%, while 16% had dyskinetic CP and 5% had ataxia. Neuroimaging was available in 95% of the children. This showed maldevelopment in 13%, white matter lesions in 36%, cortical/subcortical lesions in 23% and basal ganglia lesions in 14%. The aetiology was considered to be prenatal in 36% and perinatal/neonatal in 46% and remained unclassified in 18%. CONCLUSION: The overall prevalence of CP in western Sweden was stable. However, the distribution of CP types changed and the term hemiplegia increased significantly. Among children with CP born extremely preterm, the percentage born before 26 weeks of gestation had increased.

Intelligence two years after epilepsy surgery in children.

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.

Epilepsy surgery in children with accompanying impairments.

The aim of this study was to assess seizure outcome 2 years after epilepsy surgery in a consecutive series of paediatric patients, with special focus on children with learning disabilities and other neuroimpairments in addition to the epilepsy. Outcome 2 years after surgery was assessed in 110 of 125 children operated upon for drug resistant epilepsy in Gothenburg 1987-2006. More than half of the children had learning disabilities, 43% motor impairments and 30% a neuropsychiatric diagnosis. Fifty-six per cent of those with an IQ < 70 became seizure-free or had a >75% reduction in seizure frequency, and two thirds if the operation was a resection. The corresponding figure in those with more than 100 seizures per month was 15 out of 31, and another seven had a 50-75% reduction in seizure frequency. The message is that learning disability, motor impairment and psychiatric morbidity should not be contraindications for paediatric epilepsy surgery. More than half of the children with learning disabilities had a worthwhile seizure outcome, with even better results after resective surgery. Children with drug resistant epilepsy and additional severe neurological impairments should have the benefit of referral to a tertiary centre for evaluation for epilepsy surgery.

Cognitive development from two to ten years after pediatric epilepsy surgery.

The development of cognitive functions and the sustainability of seizure control between two and ten years after epilepsy surgery were prospectively investigated in 17 children and adolescents. Intelligence quotient remained stable. Learning capacity improved. Verbal memory improved in half of the subjects and declined in half, whereas figurative memory declined in most patients. Working memory improved as did attention regarding sustained attention and impulse control. In contrast, reaction times were longer, and the auditory attention span was shorter. Executive functions were not affected. Six subjects (35%) were seizure free at the 10-year follow-up, and a seizure reduction of more than 75% had been achieved in 13 (76%). Seizure control improved in five and seizures recurred in two subjects between the two- and the 10-year follow-up.

Very long-term follow-up of adults treated in infancy for hydrocephalus.

PURPOSE: The purpose of this study is to perform a population-based, very long-term follow-up of adults who had been shunt treated for hydrocephalus in infancy. METHODS: The 72 children with hydrocephalus born in 1967-1978 in western Sweden, who had participated in a follow-up at school age, were re-examined at 30-43 years of age. The 29 with mental retardation were described in terms of developmental level and survival, whereas the remaining 43 were invited to take part in a follow-up and 28 accepted. The assessments included a semi-structured interview pertaining to medical issues, academic achievements and social function. RESULTS: Six children had died, i.e. a mortality rate of 8%. Mental retardation was present in 29 (40%), severe (IQ <50) in 13 and mild (IQ 50-70) in 16. Four of the 28 (14%) had cerebral palsy and 8 (28%) had other motor problems. Five (18%) had epilepsy and nine (32%) had visual impairments. A total of 20 (71%) reported some kind of health problem. Repeated revisions of the shunt had been performed in 23 (82%). Many worried about their shunt and requested a systematic medical follow-up. Nineteen subjects (68%) lived with a partner and 16 (57%) were parents. The majority had completed secondary school and 9 (32%) had completed university studies, while 18 (64%) worked full time, equal to the general population. CONCLUSION: In general, the group of normally gifted individuals with hydrocephalus, who had been shunt treated during infancy, was functioning well as adults and participated in society to the same extent as other people.

Function and neuroimaging in cerebral palsy: a population-based study.

AIM: The aim of this population-based study was to describe function in cerebral palsy (CP) in relation to neuroimaging. METHOD: Motor function, accompanying impairments, and neuroimaging (86 by magnetic resonance imaging, 74 by computed tomography) were studied in 186 children born in western Sweden between 1999 and 2002 (96 males, 90 females; age range at data collection 4-8 y). results: Forty per cent of the children had unilateral spastic CP, 39% bilateral, 16% dyskinetic CP, and 5% ataxia. Fifty-one per cent were in level I of the Gross Motor Function Classification System (GMFCS), 14% in level II, 3% in level III, 11% in level IV, and 22% level V. Forty per cent of the children were in level I of the Manual Ability Classification System 19% were in II, 9% at III, 8% in IV, and 24% in level V. Seventy-six per cent of the children with white-matter lesions were in GMFCS levels I and II, whereas 67% with basal ganglia lesions were in levels IV and V. Learning disability* (45%), epilepsy (44%), and visual impairment (17%) were most common in children with brain maldevelopment, and cortical/subcortical or basal ganglia lesions. Speech was impaired in 49% of the children, absent in 30%, and 6% had a neuropsychiatric diagnosis. Compared with children born between 1991 and 1998, the numbers of those in GMFCS level I increased (p=0.007), as did those with epilepsy (p=0.015). INTERPRETATION: Neuroimaging improves the understanding of the neuroanatomical basis for function in CP. Type and severity of motor impairment and accompanying impairments are related to the timing of lesions.

Very long-term follow-up of cognitive function in adults treated in infancy for hydrocephalus.

PURPOSE: The aim was to investigate the very long-term cognitive outcome in adults who had been shunt treated for hydrocephalus during their first year of life. METHODS: In a population-based series of 72 children born in 1967-1978 and shunt treated for infantile hydrocephalus, 43 were found to have a normal cognitive function when assessed at 6-17 years of age. Twenty-five of them agreed to participate in a follow-up study of cognition at a mean age of 35 years (range, 30-41 years). The Wechsler Adult Intelligence Scale (WAIS-III) was used. RESULTS: The median full-scale IQ was 101 (range, 83-120), median verbal IQ was 104 (81-115) and performance IQ was 99 (80-127). The corresponding IQs in childhood in the 16 subjects who had been tested previously with the WISC were 101 (84-124), 108 (86-135), and 101 (73-124). Specific cognitive deficits were found for working memory and processing speed. Shunt complications did not affect IQ. CONCLUSION: This very long-term follow-up study of normally gifted children with hydrocephalus revealed that, as adults, they still had preserved cognitive functions despite recurrent shunt dysfunction. The results are encouraging and represent a tribute to neurosurgical intervention. Continued follow-up studies are needed since the etiological panorama and treatment procedures of children with hydrocephalus are changing over time.

Obstetric brachial plexus palsy: a prospective, population-based study of incidence, recovery, and residual impairment at 18 months of age.

AIM: The aim of this investigation was to study the incidence of obstetric brachial plexus palsy (OBPP), to prospectively follow the recovery process, to assess the functional outcome at 18 months of age, and to find early prognostic indicators. METHOD: Of the 38 749 children born between 1999 and 2001 in western Sweden, 114 (70 males, 44 females) had an OBPP. Ninety-eight children were examined on six occasions at up to 18 months of age. Muscle strength, range of motion, hand preference, and functional abilities were noted, and the severity of the OBPP was classified. RESULTS: The incidence of OBPP was 2.9 per 1000 live births, and the incidence of persisting OBPP was 0.46 per 1000. At 3 months of age, the predictive value of regained elbow flexion for complete recovery was 100%, 99% of shoulder external rotation, and 96% of forearm supination. Most of the 18 children with persisting OBPP could perform functional activities but asymmetries were noted. Five children had a mild, 11 had a moderate, and two had a severe impairment. Three had undergone nerve surgery, one with a mild and two with a severe persisting impairment. INTERPRETATION: Most children with an OBPP recover completely. Muscle strength at 3 months of age can be used to predict outcome.

Management of prolonged seizures and status epilepticus in childhood: a systematic review.

Pediatric prolonged seizures and status epilepticus are medical emergencies necessitating immediate life-support and seizure-control measures. A systematic review of published data on the management of prolonged seizures and status epilepticus showed that buccal midazolam was significantly more effective than rectal diazepam, reaching a seizure-control rate of 70% and recurrence rate of 8%. Intranasal lorazepam was as effective as intramuscular paraldehyde in a cost-restrained setting. In refractory status epilepticus, both intravenous midazolam and valproate were equally effective to intravenous diazepam, with valproate exhibiting significantly faster seizure cessation and safer profile than diazepam, even in infancy. In conclusion, buccal midazolam is efficacious and safe thanks to its convenient route of administration, which may serve as first-line in the treatment of prolonged seizures. Intranasal lorazepam is an effective, easy-to-use, and safe drug for prolonged seizures. Intravenous valproate exhibits favorable efficacy and safety profile as third-line in status epilepticus, refractory to diazepam and phenytoin.

Cognitive functions in children with myelomeningocele without hydrocephalus.

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.

Learning, memory and executive functions in children with hydrocephalus.

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.

Strabismus, binocular functions and ocular motility in children with hydrocephalus.

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.

Hydrocephalus in children born in 1999-2002: epidemiology, outcome and ophthalmological findings.

OBJECTIVE: The purpose of this study was to monitor incidence and outcome in children with hydrocephalus. MATERIALS AND METHODS: This is a population-based prospective study of all the children with hydrocephalus born in western Sweden in 1999-2002. Etiological and clinical information was collected from records, neuroimaging and ophthalmological examinations. Comparisons with 208 children born in 1989-1998 were made. RESULTS: The incidence was 0.66 per 1,000 live births, 0.48 for infantile hydrocephalus and 0.18 for hydrocephalus associated with myelomeningocele. The corresponding rates for 1989-1998 were 0.82, 0.49 and 0.33. Ventriculo-peritoneal shunt treatment was used in 42 of the 54 children and endoscopic third ventriculostomy in 12. Revisions were performed in 33 (61%). Neurological impairments were present in 63%, and they were more common in children born preterm than in those born at term. The radiological extent of parenchymal lesions correlated significantly with outcome. Ophthalmological abnormalities were found in 80%, including visual impairment in one third. CONCLUSION: The incidence of post-haemorrhagic hydrocephalus in children born extremely preterm increased; a group running a high risk of neurological sequelae. Ophthalmological abnormalities were frequent and need to be assessed in all children with hydrocephalus. The high rate of morbidity and complications necessitates the further development of preventive and treatment methods.

Bilateral spastic cerebral palsy--prevalence through four decades, motor function and growth.

UNLABELLED: The aim was to depict changes in the prevalence and severity of bilateral spastic cerebral palsy (CP) over a 40-year period. Another objective was to characterise the group born in 1991-1998 with respect to gross motor function, spasticity and growth. Data were obtained from the CP register of western Sweden and rehabilitation records. RESULTS: After a rise to 1.27 per 1000 live births in 1983-1986, the prevalence decreased significantly, in children born both preterm and at term, to 0.69 in 1995-1998. After 1975, more children were born preterm than at term. There was a significant decrease in severe bilateral spastic CP during the same period, mainly in children born at term. In all, 46% of the children born at term and 33% of those born preterm had a severe motor impairment, i.e. no walking ability. In the 167 children born in 1991-1998, the gross motor function classification system (GMFCS) level was I in 14%, II in 34%, III in 10%, IV in 25% and V in 17%. The GMFCS level correlated with the gross motor function measure (GMFM) and the Ashworth spasticity scores, as well as with the deviation in postnatal weight and height. We conclude that the prevalence of bilateral spastic CP has decreased since the mid-1980s, parallel to a reduction in the severity of the motor impairment. Children born preterm have predominated since the mid-1970s. The severity of the motor impairment correlated with the degree of spasticity, GMFM and growth. The percentage of children who were underweight was substantial.

POLG1 mutations associated with progressive encephalopathy in childhood.

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.

Behavioural problems and autism in children with hydrocephalus : a population-based study.

OBJECTIVE: To investigate the prevalence of behavioural problems and autism in a population-based group of children with hydrocephalus and to see whether learning disabilities, cerebral palsy (CP), epilepsy, myelomeningocele (MMC) or preterm birth increase the risk of these problems. METHOD: In the 107 children with hydrocephalus born in western Sweden in 1989-1993, behaviour was assessed using the Conners' parent rating scales in 66 and the teacher's rating scales in 57. Autism was investigated using the Childhood Autism Rating Scale. RESULTS: Parents rated 67% of the children and teachers 39% of the children as having behavioural problems (>1.5 SD, or T score >65). Learning disabilities increased the risk significantly and almost all the children with CP and/or epilepsy had behavioural problems. Autism was present in nine children (13%), in 20% of those without MMC and in one of 26 with MMC. Autism was significantly more frequent in children with learning disabilities (27% vs. 7%) and in children with CP and/or epilepsy (33% vs. 6%). CONCLUSION: The majority of children with hydrocephalus have behavioural problems and many have autism. It is therefore important to assess and understand all the aspects of cognition and behaviour in these children in order to minimise disability and enhance participation for the child.