Objective:To observe any effect of repetitive transcranial magnetic stimulation (rTMS) on sleep disorders among children with cerebral palsy (CP).Methods:A total of 102 children with CP and disordered sleep were randomly divided into an experimental group and a control group, each of 51. All were given routine rehabilitation and sleep health education, but the experimental group additionally received rTMS for two weeks. The polysomnography (PSG) results of the two groups were recorded and analyzed.Results:The PSG parameters had improved greatly in both groups after the treatment. The percentage of N2 sleep (depth of sleep during light sleep) in the severe cerebral palsy group and of N3 sleep (depth of sleep during deep sleep) in the moderate cerebral palsy group had increased significantly more than in the mild cerebral palsy group, on average. After the intervention the percentages of N2 and N3 in those with mixed cerebral palsy and of N3 in those with involuntary motor cerebral palsy had increased significantly more than in those with spastic cerebral palsy, on average.Conclusion:rTMS treatment can improve the sleep disorders of children with cerebral palsy, especially N2 sleep among children with moderate to severe cerebral palsy, N3 sleep in cases of mixed or dyskinetic CP.

Objective:To compare the effectiveness of two types of robotic training in improving the lower extremity motor functioning of children with spastic cerebral palsy (SCP).Methods:Twenty-eight children with SCP were randomly divided into a control group and an experimental group, each of 14. Both groups received conventional exercise therapy, paraffin therapy, neuromuscular electrical stimulation, and massage. Both also performed 30 minutes of gait training five days a week for eight weeks assisted by either a Lokomat or a Relink lower limb rehabilitation robot. Before and after the treatment, both groups were evaluated using the Gross Motor Function Measure (GMFM), the Pediatric Balance Scale (PBS), the Modified Tardieu Scale (MTS), the six-minute walk test (6MWT), the Physiological Cost Index (PCI) and their self-selected walking speed (SWS).Results:Significant improvement in all of the measurements were observed in both groups. After the treatment, there were no significant differences between the two group in the average GMFM (section D and E) or PBS scores. The average MTS R1 and R2, SWS, 6MWT and PCI results of the experimental group were, however, significantly better than those of the control group.Conclusion:Applying either the Lokomat or Relink robot in lower extremity rehabilitation improves the lower extremity motor function of children with grade II-III SCP. The Relink robot is the more effective in improving triceps surae spasm and walking ability.

OBJECTIVE: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB). METHODS: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics. CONCLUSION The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.
Child ; Female ; Humans ; Pregnancy ; Autistic Disorder/genetics* ; Brain ; Computational Biology ; Genetic Counseling ; Mutation ; Nerve Tissue Proteins/genetics* ; Neuro-Oncological Ventral Antigen ; Neurodevelopmental Disorders ; RNA-Binding Proteins

Objective:To establish and validate a model predicting the age at which a child with cerebral palsy will be able to walk independently.Methods:Data spanning 2016 to 2020 were collected from the cerebral palsy registration platform to build a database. Then, 70% of the patients were randomly assigned to the modeling group, while the remaining 30% were reserved for validation. Factors such as gender, bilirubin encephalopathy, neonatal asphyxia, extremely low birth weight, early pre-term birth, cerebral palsy type, magnetic resonance classification, gross motor function classification (GMFCS) score before 2 years of age, independent sitting age, ability to sit independently at 2 years of age, sections A through E of the gross motor function measure (GMFM-88), epilepsy, intellectual disability, visual impairment and surgery were analyzed applying Cox univariate regression analysis. The variables highlighted by the univariate regression analysis were included in Cox multivariate regression analyses, and a prediction model for the independent walking of children with cerebral palsy was established. It is presented as a linear graph. The C-statistic and calibration curve were used to evaluate the graph′s discrimination ability and calibration. Net reclassification improvement (NRI) was used to evaluate the linear graph′s net benefit.Results:A total of 807 cases were included in the study, with 565 and 242 in the model and validation groups, respectively. GMFCS score before 2 years of age, cerebral palsy type, independent sitting age, intellectual disability and early pre-term birth were found to be independent predictors of the age of independent walking. The C-statistics for 1-6 year-olds were all >0.8, indicating that the prediction model had good discrimination. The calibration curve showed that the predicted probability of independent walking at 1-4 years old was consistent with the observed probability, while the predicted probability of independent walking at 5-6 years old was higher than the observed probability. NRI suggested that the net benefit of the linear graph prediction model was not less than that of the full-factor model.Conclusion:A linear model was developed which can usefully predict the age of independent walking for children with cerebral palsy.

Objective:To explore the scheme of assigning rational scores to the Modified Pediatric Nutritional Risk Screening Tool for children with cerebral palsy(CP) at different Gross Motor Function Classification System(GMFCS) levels.Methods:The clinical data of 360 children with CP hospitalized in the Department of Children′s Rehabilitation, the Third Affiliated Hospital of Zhengzhou University from January to October 2019 were analyzed retrospectively.All the CP children at different GMFCS levels who met the inclusion criteria were subject to nutrition screening and assessment by using the Modified Pediatric Nutritional Risk Screening Tool and the Subjective Global Nutritional Assessment(SGNA) scale.The distribution of malnutrition rates assessed by the SGNA scale among the children at different GMFCS levels was examined.Data between groups were compared by the χ2 test.Children at different GMFCS levels were divided into different subgroups according to the statistical difference.Then, 0 or 1 score was assigned to the Modified Pediatric Nutritional Risk Screening Tool in different subgroups, and different combinations were formed.The nutritional risk screening results of different combinations were evaluated by using the SGNA scale assessment results as a reference. Results:In children with CP, the risk detection rate and incidence rate of malnutrition were 58.1%(209/360) and 36.9%(133/360), respectively.There was no significant difference in the incidence rate of malnutrition between GMFCS Ⅱ and GMFCS Ⅲ, as well as between GMFCS Ⅳ and GMFCS Ⅴ(all P>0.05). Therefore, children with CP were divided into 3 subgroups, namely, group Ⅰ, group Ⅱ to Ⅲ, and group Ⅳ to Ⅴ.Different CP disease scores were given to the Modified Pediatric Nutritional Risk Screening Tool in 3 subgroups, forming 3 different protocols[protocol 1 (0, 0, 1 point); protocol 2(0, 1, 1 point); current protocol (1, 1, 1 point)]. Taking the SGNA scale assessment results as a reference, the sensitivity of protocol 1, protocol 2 and current protocol were 85.7%, 92.5%, and 93.2% respectively.The specificity protocol 1, protocol 2 and current protocol were 81.1%, 78.0%, and 62.6%, respectively.And the Youden indexes of above three protocols were 0.668, 0.705, and 0.558, respectively.The Youden index of protocol 2 was relatively high. Conclusions:The Modified Pediatric Nutritional Risk Screening Tool can effectively identify the risk of malnutrition in children with CP.The scheme of assigning 0 points to children with GMFCS grade Ⅰ and 1 point to children with GMFCS grade Ⅱ to Ⅴ is more reasonable.

Objective:To investigate the characteristics of resting energy expenditure (REE) in children with cerebral palsy (CP) graded with different levels of Gross Motor Function Classification System (GMFCS), and to evaluate the accuracy and association of commonly used REE prediction formulas in children with CP.Methods:It was a retrospective study involving 36 children with CP aged 24-144 months who visited the Third Affiliated Hospital of Zhengzhou University between September 2021 and August 2022.REE was measured by the indirect calorimetry.Based on the GMFCS, children with CP were divided into grade Ⅰ-Ⅱ group (20 cases), grade Ⅲ group (6 cases) and grade Ⅳ-Ⅴ group(10 cases). During the same period, 11 age-matched healthy children were included in control group.The measured REE (MREE) between children with CP and healthy controls was compared.Predicted REE (PREE) calculated by the Harris-Benedict, WHO, Schofield-W, Schofield-WH and Oxford prediction formulas were compared with MREE in children for their consistency and correlation.Independent samples were analyzed using t-test or Mann- Whitney U test, and categorical data were analyzed using Chi- square test.Using paired t-test and Pearson linear correlation analysis to analyze the correlation between MREE and PREE.The accuracy of PREE values calculated by different formulas was assessed using the root mean square error. Results:The MREE in control group and children with CP were (952.18±270.56) kcal/d and (801.81±201.89) kcal/d, respectively.There was no significant difference in the MREE between grade Ⅰ-Ⅱ group versus control group[(868.30±194.81) kcal/d vs.(952.18±270.56) kcal/d, P>0.05], and grade Ⅲ group versus control group [(813.17±192.48) kcal/d vs.(952.18±270.56) kcal/d, P>0.05]. The MREE was significantly lower in grade Ⅳ-Ⅴ group than that of control group [666.00(513.50, 775.50) kcal/d vs.(952.18±270.56) kcal/d, P=0.011]. There were no significant difference between MREE and PREEs calculated by Harris-Benedict, WHO, Schofield-W, Schofield-WH, and Oxford (all P>0.05). The correct classification fraction calculated by the 5 formulas were 33.3%, 47.2%, 41.7%, 47.2%, and 41.7%, respectively.The r values of the consistency of PREE calculated by the 5 formulas were 0.585, 0.700, 0.703, 0.712, and 0.701, respectively.The Blande-Altman Limits of Agreement were (-297.77, 359.22), (-245.60, 326.94), (-250.62, 316.05), (-242.22, 177.36) and (-241.28, 325.81), respectively.The clinically acceptable range was -80.18 to 80.18 kcal/d.The root mean square error were 168.09 kcal/d, 149.64 kcal/d, 146.24 kcal/d, 144.23 kcal/d and 148.77 kcal/d, respectively. Conclusions:The MREE values decreased significantly in children with CP classified as CMFCS grade Ⅳ and Ⅴ.When REE cannot be regularly monitored by indirect calorimetry to develop nutritional support programs, children with CP may be prioritized to estimate REE using the prediction formula of Schofield-WH.

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

Objective:To observe the effect of mirror visual feedback training on upper limb function and muscle tension in children with spastic hemiplegia resulting from cerebral palsy (SHCP).Methods:Seventy-six children aged 2-5 with SHCP were randomly divided into a control group of 33 and a treatment group 34. All were given routine occupational therapy, physical therapy, massage and physical agents. Each therapy session lasted 30 minutes daily, 5 times a week over 3 weeks as a course of treatment. There was a one week interval after each of 6 courses, so the total treatment lasted 6 months. The treatment group was additionally trained with mirror visual feedback with the same schedule. Before, as well as after 3 and 6 months of treatment, each patient′s upper limb motor function, fine motor function and muscle tone were evaluated using the Fugl-Meyer motor function assessment scale (FMA), the Peabody fine motor development scales (PDMS-FM), the modified Ashworth scale (MAS) and integrated electromyograms (iEMGs).Results:There were no significant differences between the two groups before treatment. After both 3 and 6 months significant improvement was observed in both groups′ average FMA score, PDMS-FM total score, grip, and visual motor integration. At both points the treatment group′s averages were significantly better than those of the control group. The average MAS and iEMG results, however, were not significantly different at either time point.Conclusions:For children with spastic hemiplegia caused by cerebral palsy, mirror visual feedback training can effectively improve upper limb functioning, but it cannot reduce their muscle tone.

Objective:To document the clinical features of children with cerebral palsy (CP) using magnetic resonance imaging (MRI).Methods:The gross motor functioning of 325 children diagnosed as having CP was graded using the gross motor function classification system (GMFCS). The GMFCS grades were correlated with MRI results in univariate and multivariate logistic regression analyses. The significance of any relationship between the MRI results and co-morbidities was tested using chi-squared tests.Results:Cerebral dysplasia, cerebroventricular enlargement, periventricular leukomalacia (PVL), abnormal signals in the thalami, and morphological changes after hypoxic ischemic encephalopathy were all found to be significantly correlated with GMFCS grading. Moreover, the chi-squared tests indicated that PVL children, children with thinning of the corpus callosum and/or abnormal signals in the thalami were significantly more likely to have visual, auditory or speech impairment complications and/or mental retardation.Conclusions:The findings from MRI correlate well with types of CP, GMFCS grades and co-morbidities among CP children. MRI can be an effective tool for early diagnosis and prognosis of CP in children, indicating needs for clinical rehabilitation.