Refractory childhood epilepsy refers to those cases with dififcult control of epileptic attacks after at least two formal anticonvulsants treatment. Recently, ketogenic diet (KD), a high-fat, low-carbohydrate and adequate-protein diet, becomes an important method for the treatment of refractory epilepsy in children. Before employing KD, children should be checked to exclude known metabolic diseases. Although the mechanism of KD treatment is not entirely clear, it has a certain clinical curative effect. Many factors inlfuence the curative effect of KD. Most of the adverse effects of KD treatment are transient and can be recovered through active prevention and handling, which gives a generally good prognosis.

Objective To explore the factors affecting the prognosis for a child in a persistent vegetative state (PVS).Methods Forty-three PVS children were selected and provided with comprehensive rehabilitation training.It included physical therapy such as Rood approach and range of joint movement training,medication and hydro-acupuncture at the head points.After three months,each patient's state of consciousness was quantified,and multiple-factor unconditional logistic regression was conducted to identify factors relating to any changes.Results By the end of the intervention,29 of the patients had regained consciousness,a recovery rate of 67％.Logistic regression revealed that age,brainstem auditory evoked potentials (BAEP) and PVS score at admission all were closely related with whether a child regained consciousness.Gender,type of damage,EEG score,and the initial time of intervention had no significant relationship with regaining consciousness.Conclusions Older PVS patients with higher BAEPs and PVS scores at admission are more likely to regain consciousness.

Objective To observe the effects of ginkgolide B (GB) on mRNA expression of foxgl and proliferation of cells in brain tissue of newborn rats with hypoxic-ischemic brain damage (HIBD).Methods A total of 128 clean 7-day-old healthy SD rats were randomly divided into sham operation group,the model group,the low-GB dose and the high-GB dose treatment groups.Classic Rice method were used to establish HIBD models in the latter 3 groups.Four hours after operation,and GB in dose of 5 mg/kg and 10 mg/kg was given to rats in the low and the high dose treatment groups by intraperitoneal injection postoperatively,once a day for 5 days,while sham operation and model groups were treated with equal physiological saline.All groups were respectively sacrificed on 3 d,7 d,14 d,28 d respectively.Quantitative real-time fluorescent polymerase chain reaction was employed to detect expression of Foxg1 gene.Then the number of 5-bromodeoxyuridine positive cell in subgranular zone was investigated by immunolluorescent stairning.Results The Foxg1 mRNA expression was observed 3 days after HIBD,peaked on 7th day,and then declined gradually; the levels of Foxg1 mRNA in the 2 treatment groups were higher than that of the HIBD group (all P ＜ 0.01) ; The expression of Foxgl at 7 d,14 d,28 d,in high-dose group were higher than those in the low-dose group (all P ＜ 0.01).The number of 5-bromodeoxyuridine positive cell was increased after HIBD,and the levels in the low-and the high-dose treatment groups were all higher than that of the model group (all P ＜ 0.05) ; the number of positive cell in high-dose treatment groups were higher than that in the low-dose treatment groups (P ＜ 0.05).Conclusions GB can promote the expression of Foxg1 gene and improve the proliferation of cells in Brain tissue after HIBD,which shows more significant efficacy in high-dose group than in low-dose group.

Objective To observe the effect on Foxg1 gene expression in the subgranular zone (SGZ) of cerebral tissue from neonatal rats with hypoxic-ischemic brain damage (HIBD) after transplantation of neural stem cells (NSCs) derived from umbilical cord blood.Methods Mononuclear cells separated from umbilical cord blood by density gradient centrifugation were cultured with orientated induction to differentiate the NSCs.The neuronal phenotype was identified using immunocytochemical methods.A total of 150 Sprague-Dawley rats were randomly divided into a sham-operation group,an HIBD group and an HIBD-NSCs group.Rats in the HIBD group and the HIBD-NSCs group were subject to ligation of the left carotid artery and then kept in a box under 8％ oxygen and 92％ nitrogen for 2.5 hours to establish the HIBD animal model.The artery was separated but not ligated in the sham operation group,which was not subjected to hypoxia.Twenty-four hours after the operation,the cultivated NSCs were transplanted by caudal vein injection into the rats in the HIBD-NSCs group.Rats were then sacrificed on the 3rd,7th,14th,21st and 28th days after the operation.Foxg1 gene expression in the SGZ was examined using in-situ hybridization methods.Results The number of Nestin-positive cells peaked on the 6th day of cultivation and then decreased by the 9th day.The Foxg1 gene was expressed in the SGZs of each group.The expression increased by the 3rd day after surgery in the HIBD and HIBD-NSCs groups,and peaked on 7th day after the operation,then declined gradually.The average expression level of Foxg1 in the HIBD group was significantly lower than that in the HIBD-NSCs group on the 7th day and thereafter.Conclusions Human umbilical cord blood mesenchymal stem cells can be induced and differentiated into neural stem cells.Foxg1 genes can still be present in the SGZ after birth.HIBD can induce the expression of Foxg1 genes.Transplanting NSCs can promote the expression of Foxg1 genes and improve morphological and functional recovery after HIBD,at least in neonatal rats.

Objective To observe the effects of conductive education on gross motor function and Gesell development test results in children with cerebral palsy.Methods One hundred and thirty-eight children with cerebral palsy were stratified randomly according to the gross motor function classification system (GMFCS) and sexes into two groups:the conductive education group received conductive education combined with general comprehensive rehabilitation,the control group received general comprehensive rehabilitation only.After 4 months of training,the results of both groups in terms of gross motor function and Gesell development test results were compared.Results The GMFCS evaluation results of the 2 groups were compared through covariance analysis (F =4.479,P =0.036 ＜0.05),the result of conductive education group was better than that of control group; in both groups the result after training was superior to that before training.For Gesell development test results comparison,the differences between conductive education group and control group were statistically significant (P ＜ 0.05) ; the result of conductive education group was better than before the training (t =24.93,P =0.00 ＜ 0.05) ; but in control group the difference between the results before and after training was not significant (t =13.34,P ＞ 0.05).Conclusions Conductive education could improve gross motor function and whole body development.

Objective To explore the application of submental ultrasonongraphy (SUS) in the assessment of oropharyngeal swallowing disorders in children with cerebral palsy.Methods Seventeen children with cerebral palsy and oropharyngeal swallowing difficulties (7 on nasal feeding,10 on oral feeding) constituted the treatment group while 20 normal counterparts formed the control group.SUS was applied to measure any changes in the thickness of the tongue muscle and the range of hyoid bone displacement when they swallowed 5 ml of water.The results were compared with those assessed using the functional oral intake scale to decide the best cut-off point for detecting tube-feeding-dependent dysphagia.The intraclass correlation coefficient (ICC) of the 20 children in the control group was calculated to evaluate the intra-rater and inter-rater reliability of SUS.Results The average tongue muscle thickness change and hyoid bone displacement amplitude of the children on nasal feeding were significantly smaller than those of the children without nasal feeding and the normal children.The best cut-off point for the tongue muscle thickness change data was 1.0 cm,and that of the hyoid bone displacement amplitude was 1.5 cm.All of the ICCs were above 0.4,indicating good intra-rater and inter-rater reliability for the SUS examination.Conclusion Submental ultrasonongraphy can help assess the swallowing function of children with oropharyngeal swallowing disorders.

ObjectiveTo explore the state of misdiagnosis, missed diagnosis and excesseive diagnosis related to cerebral palsy(CP).Methods389 cases were retrospectively analyzed who were misdiagnosed, missed or escessively diagnosed related to CP as the first diagnosis in the inpatient and outpatient department from July 1999 to March 2010.ResultsAmong 389 cases, 156 cases were missed or misdiagnosed as nutritional disease, and 118 cases of other diseases were misdiagnosed as CP, while 115 cases who were normal children was excessively diagnosed as CP. The false diagnosis had relativity with children's age: doctors are more prone to make misdiagonsis when the children's age are smaller, while 293 cases were misdiagnosed before 12 months old (75.3%); 102 cases (65.4%) were misdiagnosed or missed as other diseases before September, 2004, while 87 cases (75.7%) were excessively diagnosed as CP after September, 2004. Frequency of misdiagnosis as CP reduced from 2004, and the proportion dropped from 55.9% to 44.1%.ConclusionIt is very important to master the diagnostic standard of CP. Both sides of the question are important, one side is to make early diagnosis and early treatment in order to achieve the best effect of rehabilitation, and the other side is to prevent misdiagnosis and excessive diagnosis which woud delay illness, or waste medical resources, increase the financial and psychological burden.

Objective To compare the effectiveness of cerebral palsy rehabilitation patterned on the children and youth version of the international classification of functioning,disability and health (ICF-CY) with traditional patterns.Methods Two children's rehabilitation wards were selected as the ICF-CY group and the control group.The children in the former group were evaluated using the ICF-CY and provided with individual rehabilitation plans according to their evaluation results,while those in the latter group were given traditional rehabilitation without any evaluation.Before and after 3 courses of treatment,both groups were assessed using the pediatric evaluation of disability inventory (PEDI) and the gross motor function measure (GMFM),and their use of assistant devices was assessed.Results After three courses of treatment the ICF-CY group's average PEDI score had improved significantly and was superior to that of the control group.Significant improvement was observed in the GMFM scores in both groups after the treatment,with no significant inter-group differences.Significantly more of the children in the ICF-CY group used the assistive devices (except the lower limb orthoses) compared to the control group.Conclusion Therapy based on the ICF-CY is obviously superior to traditional rehabilitation planning.

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP). METHODS: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. And trio-whole exome sequencing (trio-WES) was carried out. Candidate variants were verified by Sanger sequencing. Bioinformatic software was used to analyze the conservation of variant sites. RESULTS: The child was a 2-year-and-10-month-old female with clinical manifestations including increased muscle tone of lower limbs, pointed feet, and cognitive language delay. Trio-WES results showed that she had harbored compound heterozygous variants of c.865C>T (p.Gln289*) and c.1126G>A (p.Glu376Lys) of the CYP2U1 gene. And the corresponding amino acid for c.1126G>A (p.Glu376Lys) is highly conserved among various species. Based on guidelines from the American College of Medical Genetics and Genomics, the c.865C>T was predicted as a pathogenic variant (PVS1+PM2_Supporting), and c.1126G>A was rated as a variant of uncertain significance (PM2_Supporting+PM3+PP3). CONCLUSION The child was diagnosed with HSP type 56 due to compound variants of the CYP2U1 gene. Above findings have enriched the mutation spectrum of the CYP2U1 gene.
Female ; Humans ; Cytochrome P450 Family 2/genetics* ; Mutation ; Pedigree ; Phenotype ; Spastic Paraplegia, Hereditary/genetics* ; Infant

OBJECTIVE: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability. METHODS: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: Genetic testing revealed that the child has harbored compound heterozygous variants of the KCNJ10 gene, namely c.557T>C (p.Val186Ala) and c.386T>A (p.Ile129Asn), which were inherited from her mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted as likely pathogenic (PM1+PM2_Supporting+PP3+PP4; PM1+PM2_Supporting+PM3+PP3+PP4). CONCLUSION The patient was diagnosed with EAST/SeSAME syndrome due to the compound heterozygous variants of the KCNJ10 gene.
Humans ; Child ; Female ; Intellectual Disability/genetics* ; Hearing Loss, Sensorineural/genetics* ; Ataxia ; Genetic Diseases, X-Linked ; Mutation