Dataset Information

Apolipoprotein E polymorphisms and severity of cerebral palsy: a cross-sectional study in 255 children in Norway.

ABSTRACT: The aim of this study was to examine whether the presence of the apolipoprotein E (ApoE) allele APOE?4 is associated with less severe manifestations of cerebral palsy (CP), consistent with the suggested beneficial effect of this allele on neurodevelopment in children.ApoE genotyping was performed on buccal epithelial cells from 255 children (141 males 114 females; mean age 12y, SD 2y 3mo, range 9-17y) recorded in the Cerebral Palsy Register of Norway. The main outcome measure of CP severity was the Gross Motor Function Classification System (GMFCS). Secondary outcome measures were fine motor function, epilepsy, and the need for gastrostomy tube feeding (GTF).There was no association between the APOE?4 genotype and GMFCS levels (odds ratio [OR] 1.15; 95% confidence interval [CI] 0.66-1.99). However, the APOE?4 genotype was more often present among children with epilepsy (OR 2.2; 95% CI 1.1-4.2) and/or receiving GTF (OR 2.7; 95% CI 1.1-6.6). Among children with unilateral CP, the presence of APOE?4 was associated with more severe fine motor impairment (OR 2.6; 95% CI 1.3-6.9).Our main hypothesis that APOE?4 would have a protective effect on neurodevelopment was not supported. Instead, subgroup analyses suggested an adverse effect of the APOE?4 genotype on the developing brain after injury.

SUBMITTER: Lien E

PROVIDER: S-EPMC3600054 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Apolipoprotein E polymorphisms and severity of cerebral palsy: a cross-sectional study in 255 children in Norway.

Lien Espen E Andersen Guro L GL Bao Yongde Y Gordish-Dressman Heather H Skranes Jon S JS Vik Torstein T Blackman James A JA

Developmental medicine and child neurology 20130205 4

<h4>Aim</h4>The aim of this study was to examine whether the presence of the apolipoprotein E (ApoE) allele APOEε4 is associated with less severe manifestations of cerebral palsy (CP), consistent with the suggested beneficial effect of this allele on neurodevelopment in children.<h4>Method</h4>ApoE genotyping was performed on buccal epithelial cells from 255 children (141 males 114 females; mean age 12y, SD 2y 3mo, range 9-17y) recorded in the Cerebral Palsy Register of Norway. The main outcome ...[more]

PMID: 23384326

Similar Datasets

Project description:IntroductionEarly brain injury, as found in children with unilateral cerebral palsy (CP), may cause deficits in higher-order cognitive tasks known as executive functions (EF). EF has been conceptualised as comprised of four distinct yet inter-related components: (1) attentional control, (2) cognitive flexibility, (3) goal setting and (4) information processing. The aim of this study was to examine EF in children with unilateral CP and compare their performance with a typically developing reference group (TDC). The potential laterality effects of unilateral CP on EF will be explored, as will the relationship between the cognitive measures of EF, behavioural manifestations of EF, psychological functioning and clinical features of unilateral CP.Methods and analysisThis cross-sectional study aims to recruit a total of 42 children with unilateral CP (21 right unilateral CP and 21 left unilateral CP) and 21 TDC aged between 8 and 16 years. Clinical severity will be described for gross motor function and manual ability. Outcomes for cognitive EF measureswill include subtests from the Wechsler Intelligence Scale for Children-Fourth Edition, Delis-Kaplan Executive Function System, Rey Complex Figure Test and the Test of Everyday Attention for Children. Behavioural manifestations of EF will be assessed using the Behaviour Rating Inventory of Executive Function, Parent and Teacher versions. Psychological functioning will be examined using the Strengths and Difficulties Questionnaire. Between-groups differences will be examined in a series of one-way analyses of covariance and followed up using linear comparisons. An overall composite of cognitive EF measures will be created. Bivariate correlations between the EF composite and psychological measures will be calculated.Ethics and disseminationThis protocol describes a study that, to our knowledge, is the first to examine multiple components of EF using a cohort of children with unilateral CP. Exploration of potential laterality effects of EF among children with a congenital, unilateral brain injury is also novel. Possible relationships between EF and psychological functioning will also be investigated. Ethics have been obtained through the University of Queensland School of Psychology Ethics Committee and the Queensland Children's Health Services Human Research Ethics Committee. Results will be disseminated in peer reviewed publications and presentations at national and international conferences. This study is registered with the Australian New Zealand Clinical Trials Registry (ACTRN12611000263998).

Project description:ObjectiveTo describe the comorbidities in children with cerebral palsy (CP) and determine the characteristics associated with different impairments.DesignCross-sectional study.SettingTertiary care referral centre in India.PatientsBetween April 2018 and May 2022, all children aged 2-18 years with a confirmed diagnosis of CP were enrolled by systematic random sampling. Data on antenatal, birth and postnatal risk factors, clinical evaluation and investigations (neuroimaging and genetic/metabolic workup) were recorded.Main outcome measuresPrevalence of the co-occurring impairments was determined using clinical evaluation or investigations as indicated.ResultsOf the 436 children screened, 384 participated (spastic CP=214 (55.7%) (spastic hemiplegic=52 (13.5%); spastic diplegia=70 (18.2%); spastic quadriplegia=92 (24%)), dyskinetic CP=58 (15.1%) and mixed CP=110 (28.6%)). A primary antenatal/perinatal/neonatal and postneonatal risk factor was identified in 32 (8.3%), 320 (83.3%) and 26 (6.8%) patients, respectively. Prevalent comorbidities (the test used) included visual impairment (clinical assessment and visual evoked potential)=357/383(93.2%), hearing impairment (brainstem-evoked response audiometry)=113 (30%), no understanding of any communication (MacArthur Communicative Development Inventory)=137 (36%), cognitive impairment (Vineland scale of social maturity)=341 (88.8%), severe gastrointestinal dysfunction (clinical evaluation/interview)=90 (23%), significant pain (non-communicating children's pain checklist)=230 (60%), epilepsy=245 (64%), drug-resistant epilepsy=163 (42.4%), sleep impairment (Children's Sleep Habits Questionnaire)=176/290(60.7%) and behavioural abnormalities (Childhood behaviour checklist)=165 (43%). Overall, hemiparetic and diplegic CP and Gross Motor Function Classification System ≤3 were predictive of lesser co-occurring impairment.ConclusionCP children have a high burden of comorbidities, which increase with increasing functional impairment. This calls for urgent actions to prioritise opportunities to prevent risk factors associated with CP and organise existing resources to identify and manage co-occurring impairments.Trial registration numberCTRI/2018/07/014819.

Project description:IntroductionThe aim was to investigate the risk, prevalence, and clinical characteristics of cerebral palsy among children born after assisted reproductive technology (ART) in Norway.Material and methodsAll liveborn children from 2002 to 2015 were included. Information was collected from the Medical Birth Registry of Norway, linked to the Norwegian Quality and Surveillance Registry for Cerebral Palsy as of December 31, 2022. Logistic regression analyses were used to calculate the prevalence of cerebral palsy per 1000 live births after ART and natural conception with birth year as covariate, crude odds ratios (OR) for cerebral palsy among children born after ART using children born after natural conception as reference, and OR adjusted for potential confounders, with 95% confidence intervals (CI). Potential mediators of the association were studied in stratified analyses. Descriptive statistics were used to compare proportions in clinical characteristics among children with cerebral palsy born after ART and natural conception.ResultsAmong 833 645 livebirths, 23 645 children were born after ART and of the latter 97 were diagnosed with cerebral palsy. The overall prevalence of cerebral palsy after ART was 4.10 per 1000 live births (95% CI 3.36-5.00), decreasing from 7.79 per 1000 in 2002 to 3.55 in 2015. Compared with children born after natural conception, the OR for cerebral palsy was 2.01 (95% CI 1.63-2.47) adjusted for mother's age at birth, parity, and pre-pregnancy health. When restricted to singletons born at term, the adjusted OR for cerebral palsy was 1.13 (95% CI 0.76-1.69). The distribution of cerebral palsy subtypes and the severity of gross and fine motor function and associated impairments did not differ significantly between children with cerebral palsy born after ART and natural conception.ConclusionsChildren born after ART had a risk of cerebral palsy that was twice that of children born after natural conception. The increased risk of cerebral palsy after ART is likely attributed to multiple pregnancies and preterm births. The prevalence of cerebral palsy after ART decreased significantly during the study period, despite an increased use of ART in the population. The distribution of clinical characteristics did not differ between children with cerebral palsy born after ART and those born after a natural conception, suggesting that the risk factors for, and causes of cerebral palsy were similar.

Project description:Cerebral palsy is primarily an upper motor neuron disease that results in a spectrum of progressive movement disorders. Secondary to the neurological lesion, muscles from patients with cerebral palsy are often spastic and form debilitating contractures that limit range of motion and joint function. With no genetic component, the pathology of skeletal muscle in cerebral palsy is a response to aberrant neurological input in ways that are not fully understood. This study was designed to gain further understanding of the skeletal muscle response to cerebral palsy using microarrays and correlating the transcriptional data with functional measures. Hamstring biopsies from gracilis and semitendinosus muscles were obtained from a cohort of patients with cerebral palsy (n=10) and typically developing patients (n=10) undergoing surgery. Affymetrix HG-U133A 2.0 chips (n=40) were used and expression data was verified for 6 transcripts using quantitative real-time PCR, as well as for two genes not on the microarray. Chips were clustered based on their expression and those from patients with cerebral palsy clustered separately. Significant genes were determined conservatively based on the overlap of three summarization algorithms (n=1,398). Significantly altered genes were analyzed for over-representation among gene ontologies, transcription factors, pathways, microRNA and muscle specific networks. These results centered on an increase in extracellular matrix expression in cerebral palsy as well as a decrease in metabolism and ubiquitin ligase activity. The increase in extracellular matrix products was correlated with mechanical measures demonstrating the importance in disability. These data lay a framework for further studies and novel therapies. Skeletal muscle biopsies from both the gracilis and semitendinosus were obtained during surgery for 20 pediatric subjects for affymetrix microarray analysis. We obtained a group of 10 patients undergoing medial hamstring lengthening in the cerebral palsy group and 10 patients undergoing ACL reconstruction with hamstring autograft in the control group. This provided 40 microarrays in 4 groups to analyze the effect of cerebral palsy and also differences between muscles.

Project description:BackgroundCerebral Palsy (CP) is one of the most common physical disabilities in children. This study aimed to explore the clinical spectrum of CP at Orotta National Referral and Teaching Hospital, including CP subtypes, gross motor function, patterns of associated comorbidities, and possible risk factors in children aged 2 to 12 years.MethodsA hospital-based cross-sectional study was conducted from January to April 2022 in 153 children with suspected motor symptoms. The Surveillance of CP in Europe (SCPE) decision tree was used as an inclusion criteria guideline and the evaluation of the participants was done using a standardized questionnaire and clinical examination. Descriptive statistics, chi-square test, and logistic regression were employed to statistically analyze the data.ResultsEighty-four children who fulfilled the clinical criteria were included in the study. The median age was 5-years [IQR: 3.8] with an equal distribution of males and females. Quadriplegic CP was the most common subtype (51.2%) followed by unilateral (hemiplegic) CP (22.6%), and dyskinetic CP (14.3%). Most children had severe gross motor impairment GMFCS level IV-V and females were almost three times more likely to have GMFCS level IV/V than males (AOR: 2.70; CI: 1.08-6.72; p-value = 0.033.) More than half (52.4%) of the neonates either did not cry within five minutes and/or needed breathing resuscitation, 55.3% had to be admitted to the NICU with a median of 5 days' hospital stay. Between the first week of birth and the first year of life, 28.6% had trouble feeding, 26.2% had an infection, 10.7% had difficulty breathing, 20.2% had seizures and 6% had jaundice. Feeding problems (64.3%), speech problems of some sort (91.7%), and epilepsy (46.4%) were the most commonly associated comorbidities with CP.ConclusionsThe clinical profile of the CP patients was found to be dominated by the spastic subtype and moderate to severe disability. Since perinatal risk factors were found to be dominant, strengthening maternal and child healthcare systems is recommended to minimize incidents of preventable risk factors and the burden of the disability.

Dataset Information

Apolipoprotein E polymorphisms and severity of cerebral palsy: a cross-sectional study in 255 children in Norway.

Publications

Apolipoprotein E polymorphisms and severity of cerebral palsy: a cross-sectional study in 255 children in Norway.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets