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Abstract?AlM: To evaluate the visual impairment in cerebral palsy children with series objective indicators, and conclude their clinical features of visual function.? METHODS: Objective tests including following pursuing test, optokinetic nystagmus(OKN) drum test, refractive error examination, fundus examination, ocular deviation examination, pattern visual evoked potential ( P-VEP ) tests and brain magnetic resonance imaging ( MRl) were carried out in 43 cerebral palsy children ( 86 eyes ) with ocular visual dysfunction; The visual impairment data of the cerebral palsy children were collected, and the clinical features and possible mechanism were analyzed.?RESULTS: 1. Of the 43 cerebral palsy children ( 86 eyes) with the visual impairment presented diversified, 25 ( 50 eyes, 58. 1%) of refractive error, 24 ( 48 eyes, 55. 8%) of strabismus, 12 ( 24 eyes, 27. 9%) with nystagmus, 19 ( 38 eyes, 44. 2 %) of optical nerve atrophy or hyperplasia, 35 ( 70 eyes, 81. 4%) of VEP abnormality. Among children with spastic cerebral palsy, the incidence of visual impairment was statistically significant difference compared with other groups (P 0. 05 ), no nystagmus in patients with severe occipital cortex damage.?CONCLUSlON: Cerebral palsy children were usually with visual impairment, and presented with special clinical features; Comprehensive objective visual tests are accurate and reliable for evaluation of the visual function in cerebral palsy children.
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<p><b>OBJECTIVE</b>To investigate the mechanism of the ring chromosome 9 formation by cytogenetic analysis of one case affected with ring chromosome 9 syndrome.</p><p><b>METHODS</b>Routine chromosome GTG-binding analysis and dual-color fluorescence in situ hybridization (FISH) with TelVision 9p and 9q probes were applied to characterize the case.</p><p><b>RESULTS</b>The G-binding revealed that the patient had ring chromosome 9 with the following karyotype: 45,X,-9/46,XX,r(9)(p24q34)/46,XX,r(9;9)(p24q34;p24q34)[4/92/4]. The dual-color FISH analysis with TelVision 9p and TelVision 9q probes failed to detect a hybridization signal on the ring chromosome in the case, which indicated that at least 115 kb were deleted on the terminal 9p and 95 kb were deleted on the terminal 9q. Comparing to the cases reported in the literatures, our patient shared some common features of the 9p- and 9q- syndrome.</p><p><b>CONCLUSION</b>The clinical features of patients with identical r(9) breakpoints present variable phenotypes. The possible cause might be the submicroscopic variation in the deletion breakpoints, variation in the ring stability, the modification of the expression of the deleted by the individual's genetic background, or the effect of changes in the fetal environment. The haploinsufficiency of genes located in the deleted regions may play critical roles in the patient phenotype as well.</p>
Subject(s)
Female , Humans , Infant , Chromosome Deletion , Chromosome Disorders , Genetics , Chromosomes, Human, Pair 9 , Genetics , In Situ Hybridization, Fluorescence , Karyotyping , Ring ChromosomesABSTRACT
@#ObjectiveTo observe the effect of bubble bath coordinating with functional training on the children with spastic cerebral palsy.Methods210 children with spastic cerebral palsy were randomly divided into the treatment group (n=118) and control group (n=92). All children were treated with functional training, acupuncture and other physical therapies. Children in the treatment group were added with bubble bath one time every day, twenty days as one course. Muscular tension was evaluated with modified Ashworth Scale and range of motion was measured before and after treatment.ResultsIn the treatment group, 55 cases were significant, 53 cases were effective, 10 cases were invalid, the total effective rate was 91.5%; in the control group, 26 cases were significant, 46 cases were effective, 20 cases were invalid, the total effective was 78.2%. There was a significant difference between the total effective rates of two groups (P<0.05).ConclusionBubble bath can significantly decrease the muscular tension of children with spastic cerebral palsy.
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Objective To investigate the incidence of auditory nerve pathway injury complicated with cere- bral palsy(CP) and its related factors relationship between the incidence rate of it and sexes,classification and risk factors. Methods The clinical data of 272 children with CP,including the data of brainstem auditory evoked po- tentials,were retrospectively reviewed.The incidence of auditory nerve pathway injury and the related factors were analyzed.Results In the 272 CP children,the incidence of auditory nerve pathway injury was 29.8% (81:272), which had a significantly relationship with the clinical types of CP (P0.05).In addition,it was found that the pathological jaundice (OR=2.945,95% CI:1.649-5.260) and intrauterine infection (OR=3.319,95% CI:1.037-10.625) were significantly related to auditory nerve pathway injury. Conclusion The auditory nerve pathway injury is common in CP children,especially in those with athetosis and mixed CP.Pathological jaundice and intrauterine infection are the risk factors of auditory nerve pathway injury.