Sequencing of the IL6 gene in a case-control study of cerebral palsy in children.
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ABSTRACT:
SUBMITTER: Khankhanian P
PROVIDER: S-EPMC3881497 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Stochastic Resonance (SR) Stimulation has been used to enhance balance in populations with sensory deficits by improving the detection and transmission of afferent information. Despite the potential promise of SR in improving postural control, its use in individuals with cerebral palsy (CP) is novel. The objective of this study was to investigate the immediate effects of electrical SR stimulation when applied in the ankle muscles and ligaments on postural stability in children with CP and their typically developing (TD) peers. METHODS:Ten children with spastic diplegia (GMFCS level I- III) and ten age-matched TD children participated in this study. For each participant the SR sensory threshold was determined. Then, five different SR intensity levels (no stimulation, 25, 50, 75, and 90% of sensory threshold) were used to identify the optimal SR intensity for each subject. The optimal SR and no stimulation condition were tested while children stood on top of 2 force plates with their eyes open and closed. To assess balance, the center of pressure velocity (COPV) in anteroposterior (A/P) and medial-lateral (M/L) direction, 95% COP confidence ellipse area (COPA), and A/P and M/L root mean square (RMS) measures were computed and compared. RESULTS:For the CP group, SR significantly decreased COPV in A/P direction, and COPA measures compared to the no stimulation condition for the eyes open condition. In the eyes closed condition, SR significantly decreased COPV only in M/L direction. Children with CP demonstrated greater reduction in all the COP measures but the RMS in M/L direction during the eyes open condition compared to their TD peers. The only significant difference between groups in the eyes closed condition was in the COPV in M/L direction. CONCLUSIONS:SR electrical stimulation may be an effective stimulation approach for decreasing postural sway and has the potential to be used as a therapeutic tool to improve balance. Applying subject-specific SR stimulation intensities is recommended to maximize balance improvements. Overall, balance rehabilitation interventions in CP might be more effective if sensory facilitation methods, like SR, are utilized by the clinicians. TRIAL REGISTRATION:ClinicalTrials.gov identifier NCT02456376; 28 May 2015 (Retrospectively registered); https://clinicaltrials.gov/ct2/show/NCT02456376 .
| S-EPMC6288963 | biostudies-literature
Project description:Certain genetic polymorphisms have been suggested to be associated with cerebral palsy; the candidate genes are involved in thrombophilia, inflammation and preterm labor, but the mechanism remains to be elucidated. The aim of the present study was to investigate the associations between selected single-nucleotide polymorphisms (SNPs) and cerebral palsy among children. A case-control study was conducted, including 74 infants with cerebral palsy (case group) and 99 healthy infants (control group). The distributions of the allele and genotype frequencies were examined for the total cerebral palsy patient population in addition to subgroups divided according to gestational age (preterm versus full-term). The results showed that the rs1042714 variant in adrenergic receptor β-2 (ADRB2) and heterozygosity for ADRB2 were associated with the cerebral palsy risk among the preterm infants. No significant differences in the allele or genotype frequencies were observed between the total cerebral palsy patient population and controls for the eight SNPs investigated.
| S-EPMC4660632 | biostudies-literature
Project description:The monitoring of children with cerebral palsy (CP) should include a precise assessment of the nutritional status to identify children and adolescents at risk of nutrition disorders. Available studies assessing the nutritional status of children with CP mainly focus on the relationship between body composition and the coexistence of motor dysfunctions, frequently overlooking the role of muscle tone. Therefore, the aim of this study was to assess the relationship between body composition and muscle tone in children with CP. In a case-control study (n = 118; mean age 11 y; SD = 3.8), the children with CP presented various stages of functional capacities, corresponding to all the levels in gross motor function classification system (GMFSC), and muscle tone described by all the grades in Ashworth scale. The control group consisted of healthy children and adolescents, strictly matched for gender and age in a 1:1 case-control manner. The children with CP were found with significantly lower mean values of fat-free mass (FFM kg = 29.2 vs. 34.5, p < 0.001), muscle mass (MM kg = 18.6 vs. 22.6, p < 0.001), body cell mass (BCM kg = 15.1 vs. 18.3, p < 0.001), and total body water (TBW L = 23.0 vs. 26.7, p < 0.001). The same differences in body composition were identified with respect to gender (p < 0.01 respectively). Moreover, children with higher muscle tone (higher score in Ashworth scale) were found with significantly lower values of fat mass (FM), FFM, MM, BCM, and TBW (p < 0.05). The findings showed lower parameters of body composition in the children with CP compared to the healthy children, and a decrease in the parameters coinciding with higher muscle tone in the study group. This observation suggests that it is necessary to measure muscle tone while assessing nutritional status of children with CP.
| S-EPMC7146599 | biostudies-literature
Project description:BackgroundCerebral palsy (CP) is the leading cause of motor disability in children; however, its pathogenesis is unknown in most cases. Growing evidence suggests that Nitric oxide synthase 1 (NOS1) is involved in neural development and neurologic diseases. The purpose of this study was to determine whether genetic variants of NOS1 contribute to CP susceptibility in a Han Chinese population.MethodsA case-control study involving 652 CP patients and 636 healthy controls was conducted. Six SNPs in the NOS1 gene (rs3782219, rs6490121, rs2293054, rs10774909, rs3741475, and rs2682826) were selected, and the MassARRAY typing technique was applied for genotyping. Data analysis was conducted using SHEsis online software, and multiple test corrections were performed using SNPSpD online software.ResultsThere were no significant differences in genotype and allele frequencies between patients and controls for the SNPs except rs6490121, which deviated from Hardy-Weinberg equilibrium and was excluded from further analyses. Subgroup analysis revealed differences in genotype frequencies between the CP with neonatal encephalopathy group (CP + NE) and control group for rs10774909, rs3741475, and rs2682826 (after SNPSpD correction, p = 0.004, 0.012, and 0.002, respectively). The T allele of NOS1 SNP rs3782219 was negatively associated with spastic quadriplegia (OR = 0.742, 95% CI = 0.600-0.918, after SNPSpD correction, p = 0.023). There were no differences in allele or genotype frequencies between CP subgroups and controls for the other genetic polymorphisms.ConclusionsNOS1 is associated with CP + NE and spastic quadriplegia, suggesting that NOS1 is likely involved in the pathogenesis of CP and that it is a potential therapeutic target for treatment of cerebral injury.
| S-EPMC6019815 | biostudies-literature
Project description:BackgroundChildren with cerebral palsy (CP) are at high risk for dental caries. Alteration of some salivary properties encountered among them compared to healthy children, could play a role in this elevated risk.ObjectivesThe aim of the present study was to assess salivary physicochemical properties; including total antioxidant (TAC), flow rate, viscosity, pH and buffering capacity, as well as Streptococcus mutans level among children with CP, also to correlate these variables to their caries experience.Materials and methodsThis case control study included 80 children with CP, study group (SG) and matched number of healthy children for control group (CG). Interview-based questionnaire, clinical examination, salivary biochemical and microbiological investigations using MALDI-TOF were done.ResultsIn SG, the caries experience in primary teeth dmft and S. mutans log value were significantly higher than CG (P = 0.039, P = 0.002) while unstimulated salivary flow rate, buffering capacity and salivary TAC were significantly lower (P < 0.0001). Multivariate linear regression showed that the presence of CP was significantly associated with the greatest variation in caries experience in the primary teeth and permanent teeth. Higher unstimulated salivary flow rate, or an increase in buffering capacity by 1 ml of acid/ml of saliva were associated with lower number of the affected primary and permanent teeth. On the other hand, One-unit increase in S. mutans log count and higher salivary TAC were associated with higher caries experience.ConclusionChildren with CP have higher caries experience (dmf) due to lower salivary protective factors and higher S. mutans counts.
| S-EPMC9487054 | biostudies-literature
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.
2012-11-21 | E-GEOD-31243 | biostudies-arrayexpress
Project description:ObjectiveCerebral palsy (CP) is a group of neurological disorders with profound implications for children's development. The identification of perinatal risk factors for CP may lead to improved preventive and therapeutic strategies. This study aimed to identify the early predictors of CP using machine learning (ML).DesignThis is a retrospective case-control study, using data from the two population-based databases, the Slovenian National Perinatal Information System and the Slovenian Registry of Cerebral Palsy. Multiple ML algorithms were evaluated to identify the best model for predicting CP.SettingThis is a population-based study of CP and control subjects born into one of Slovenia's 14 maternity wards.ParticipantsA total of 382 CP cases, born between 2002 and 2017, were identified. Controls were selected at a control-to-case ratio of 3:1, with matched gestational age and birth multiplicity. CP cases with congenital anomalies (n=44) were excluded from the analysis. A total of 338 CP cases and 1014 controls were included in the study.Exposure135 variables relating to perinatal and maternal factors.Main outcome measuresReceiver operating characteristic (ROC), sensitivity and specificity.ResultsThe stochastic gradient boosting ML model (271 cases and 812 controls) demonstrated the highest mean ROC value of 0.81 (mean sensitivity=0.46 and mean specificity=0.95). Using this model with the validation dataset (67 cases and 202 controls) resulted in an area under the ROC curve of 0.77 (mean sensitivity=0.27 and mean specificity=0.94).ConclusionsOur final ML model using early perinatal factors could not reliably predict CP in our cohort. Future studies should evaluate models with additional factors, such as genetic and neuroimaging data.
| S-EPMC11367350 | biostudies-literature
Project description:To assess the effects of radial extracorporeal shock wave therapy (rESWT) on plantar flexor muscle spasticity and gross motor function in very young patients with cerebral palsy (CP).The design was case-control study (level of evidence 3).The setting was the Department of Pediatric Neurology and Neurorehabilitation, First Hospital of Jilin University, Changchun, China.Those with a diagnosis of CP and spastic plantar flexor muscles were recruited between April 2014 and April 2015.According to the parents' decision, patients received 1 ESWT session per week for 3 months, with 1500 radial shock waves per ESWT session and leg with positive energy flux density of 0.03 mJ/mm, combined with traditional conservative therapy (rESWT group) or traditional conservative therapy alone (control group).The Modified Ashworth Scale (MAS) (primary outcome measure) and passive range of motion (pROM) measurements were collected at baseline (BL), 1 month (M1), and 3 months (M3) after BL. The Gross Motor Function Measure (GMFM)-88 was collected at BL and M3.Sixty-six patients completed the final review at 3 months and were included in the study. Subjects ranged in age from 12 to 60 months (mean age 27.0 ± 13.6 months; median age 22.0 months; 33.3% female). For the rESWT group (n = 34), mean MAS grades at BL, M1, and M3 were 2.6, 1.9, and 1.5 on the left side and 1.9, 1.7, and 1.2 on the right side. For the control group (n = 32), mean MAS grades at BL, M1, and M3 were 2.5, 2.4, and 2.1 on the left side and 1.8, 1.8, and 1.5 on the right side. The within-subject effects time × side and time × treatment were statistically significant (P < 0.01). Similar results were found for the improvement of mean pROM. GMFM-88 improved from BL to M3, but showed no statistically significant difference between the groups. There were no significant complications.This study demonstrates that the combination of rESWT and traditional conservative therapy is more effective than traditional conservative therapy alone in the treatment of spasticity in very young patients with CP.
| S-EPMC4902531 | biostudies-literature
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.
2012-11-21 | GSE31243 | GEO
Project description:Upper body movements during walking provide information about balance control and gait stability. Typically developing (TD) children normally present a progressive decrease of accelerations from the pelvis to the head, whereas children with cerebral palsy (CP) exhibit a general increase of upper body accelerations. However, the literature describing how they are transmitted from the pelvis to the head is lacking. This study proposes a multilevel motion sensor approach to characterize upper body accelerations and how they propagate from pelvis to head in children with CP, comparing with their TD peers. Two age- and gender-matched groups of 20 children performed a 10m walking test at self-selected speed while wearing three magneto-inertial sensors located at pelvis, sternum, and head levels. The root mean square value of the accelerations at each level was computed in a local anatomical frame and its variation from lower to upper levels was described using attenuation coefficients. Between-group differences were assessed performing an ANCOVA, while the mutual dependence between acceleration components and the relationship between biomechanical parameters and typical clinical scores were investigated using Regression Analysis and Spearman's Correlation, respectively (? = 0.05). New insights were obtained on how the CP group managed the transmission of accelerations through the upper body. Despite a significant reduction of the acceleration from pelvis to sternum, children with CP do not compensate for large accelerations, which are greater than in TD children. Furthermore, those with CP showed negative sternum-to-head attenuations, in agreement with the documented rigidity of the head-trunk system observed in this population. In addition, the estimated parameters proved to correlate with the scores used in daily clinical practice. The proposed multilevel approach was fruitful in highlighting CP-TD gait differences, supported the in-field quantitative gait assessment in children with CP and might prove beneficial to designing innovative intervention protocols based on pelvis stabilization.
| S-EPMC4801392 | biostudies-other