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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.
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Objective:To report cases of multiple mitochondrial dysfunction syndrome 2 (MMDS2) caused by BOLA3 gene mutation, hoping to help clinical diagnosis. Methods:The medical records of a child with MMDS2 admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in November 2021 were analyzed, and the clinical, imaging characteristics and prognosis of MMDS2 were summarized by literature review.Results:This 1 year and 9 months old male had a disease that started in childhood, with motor function regression and hyperlactatemia. Head magnetic resonance imaging indicated white matter lesions, and gene examination indicated the homozygous variation of BOLA3 gene c.295C>T(p.Arg99Trp). The diagnosis of MMDS2 was clear for the child. After treatment, the clinical symptoms and imaging of the child recovered significantly. Through literature review, 13 children with MMDS2 reported in 7 English literatures were reviewed. These cases had similar manifestations with the case reported in this study. Among them, 1 case recovered and 8 cases died in infancy. Conclusions:MMDS2 patients often show nervous system dysfunction such as motor regression, elevated lactate and white matter lesions, which often cause multiple system disorders. Some children die early, but some of them can be recovered.
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Objective:To explore the influence factors of neurodevelopmental disorders in children with SCN8A-related early-onset epilepsy through analyzing their clinical characteristics and following up their neurodeve-lopmental status. Methods:A retrospective analysis was carried out on 21 children (13 males and 8 females, the age ranged from 4 months to 8 years, average 31.6 months)with SCN8A-related early-onset epilepsy treated in Guangzhou Women and Children′s Medical Center and Kunming Children′s Hospital between January 2017 and February 2021.All patients underwent whole-exome sequencing and Sanger sequencing.The pathogenicity was estimated according to the American College of Medical Genetics and Genomics guidelines.The clinical data of all patients were also collected, including the age of onset of the disease, forms of seizures, seizure frequency, neurological development at onset, electroencephalogram (EEG) and brain magnetic resonance imaging (MRI). Besides, the patients were followed up to acquire the effect of sodium channel blockers after the onset of seizures, the process or improvement of neurodeve-lopment, EEG evaluation and neurodevelopmental outcomes.Patients were grouped based on data analysis results.The Fisher′s exact test was conducted to measure the effect of various factors on the neurodevelopmental process and outcome, and corresponding coe-fficients were calculated. Results:The average onset age of 21 patients was 0-9 months.The follow-up duration was 4 months-8 years.Three cases died.Sixteen cases (76.2%) had early infantile epileptic encephalopathy (EIEE), 5 cases (23.8%) had epilepsy without encephalopathy, and 1 case had benign infantile epilepsy.Fourteen cases (66.7%) belonged to drug resistant epilepsy.Only one child showed normal neurodevelopment.Eleven children showed delayed neurodevelopment, but improvement was observed.Nine children were retrogressed and stagnated in terms of neurodevelopment.Small age at onset ( Fisher=9.517, P=0.020, r=0.571), high seizure frequency ( Fisher=10.512, P=0.003, r=0.572), EEG background ( Fisher=10.512, P=0.003, r=0.572), epileptic discharges ( Fisher=8.288, P=0.008, r=0.542), and EEG changes before and after treatment ( Fisher=10.437, P=0.009, r=0.586) were important factors affecting the neurodevelopmental process.Neurodevelopmental outcome was normal in only 1 case, 1 child belonged to mild mental retardation (MR), 7 children belonged to moderate MR, 3 children belonged to severe MR, and 9 children belonged to profound MR.Statistical analysis indicated that the clinical phenotype ( Fisher=10.059, P=0.004, r=0.739) and drug resistance ( Fisher=13.706, P=0.001, r=0.640) were significantly correlated with neurodevelopmental outcomes.However, the forms of seizures, EEG findings at onset and mutation sites were not related to neurodevelopmental disorders. Conclusions:Most children with SCN8A-related early-onset epilepsy are accompanied with neurodevelopmental retardation of varying degrees.Epileptic encephalopathy and poor response to drug treatment will lead to severe neurodevelopmental disorders.
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Background@#and Purpose Collateral circulation is considered an important factor affecting the risk of stroke, but the factors that affect collateral circulation remain unclear. This study was performed to identify the factors associated with collateral circulation, especially blood lipids. @*Methods@#The study involved patients who had undergone digital subtraction angiography and were confirmed as having severe unilateral stenosis or occlusion of the internal carotid artery (ICA). We classified the collateral circulation status of each patient as good (Grade 3 or 4) or poor (Grade 0, 1, or 2) according to the grading system of the American Society of Interventional and Therapeutic Neuroradiology/American Society of Interventional Radiology. We collected data on patients’ characteristics and identified the factors that affect collateral circulation. @*Results@#This study included 212 patients. The multivariate logistic regression analysis showed that the high-density lipoprotein cholesterol (HDL-C) concentration and a complete anterior half of the circle of Willis were independent protective factors for good collateral circulation, whereas elevated lipoprotein(a) [Lp(a)] and serum creatinine concentrations were independent risk factors for good collateral circulation. The area under the receiver operating characteristics curve (AUC) was 0.68 (95% confidence interval [CI], 0.61–0.76) for HDL-C and 0.69 (95% CI, 0.62–0.76) for Lp(a). A binary logistic regression model analysis of the joint factor of HDL-C and Lp(a) yielded an AUC of 0.77 (95% CI, 0.71–0.84). @*Conclusions@#In patients with severe unilateral ICA stenosis or occlusion, the combination of HDL-C and Lp(a) is a useful predictor of collateral circulation.
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Objective:To study the risk factors of recurrence of benign infantile convulsions associated with mild gastroenteritis(BICE).Methods:From April 2010 to March 2015, 530 children with BICE admitted to Children's Hospital of Shanxi Province were selected, the clinical data were retrospectively analyzed.The patients were followed up for 3.5~8.5 years.The risk factors of recurrence were analyzed based on the clinical characteristics of the children.Results:Of 530 children with BICE, relapse occurred in 29 patients(6.1%). The risk factor of recurrence was related to the age of the first attack ≤18 months(the age of the first attack≤18 months: 8.3%, >18 months: 2.8%)(χ 2=4.127, P<0.05), but had no relation with gender, onset season, frequency and duration of convulsion(all P>0.05). Conclusion:Children with BICE have the possibility of recurrence.The age of the first onset ≤18 months is a risk factor for recurrence, these children should be closely followed up and appropriate intervention measures should be taken.
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Objective:To investigate the effects of levetiracetam on bone metabolism and thyroid hormone levels in children with epilepsy.Methods:A total of 20 children with epilepsy first diagnosed in our hospital from July 2016 to June 2017 were selected as the treatment group, the other 20 children who received physical examination in the same period were selected as the control group.The treatment group was given oral LEV monotherapy for 12 months.The changes of bone metabolism indexes[blood calcium, blood phosphorus, alkaline phosphatase activities, osteocalcin, parathyroid hormone, 25-(OH)D], bone mineral density(BMD)and serum thyroid hormone(triiodothyronine, tetraiodothyronine, free triiodothyronine, free thyroxine, thyroid stimulating hormone) in the control group and the treatment group were detected before, 6 and 12 months after medication.Results:(1)There were no statistically significant differences in bone metabolism indexes and BMD between the control group and the treatment group before medication( P>0.05). The differences showed no statistically significant in bone metabolism indexes and BMD among different time points of treatment group( P>0.05). (2)There were no significant differences in thyroid hormone levels between the control group and the treatment group before medication( P>0.05). There were no significant differences in thyroid hormone levels among different time points of treatment group ( P>0.05). Conclusion:Levetiracetam has no significant effects on bone metabolism and thyroid hormone level in epileptic children.
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Objective:To study the effects of new antiepileptic drugs (AEDs), including Topiramate (TPM), Oxcarbazepine(OXC), Lamotrigine(LTG), and Levetiracetam (LEV) monotherapy on bone metabolism in children with epilepsy aged 4-12.Method:s One hundred and sixty children with epilepsy who were diagnosed for the first time at Shanxi Children′s Hospital from July 2016 to June 2017 were selected and given oral TPM (40 cases), OXC (40 cases), LTG (40 cases) and LEV (40 cases) respectively according to the type of seizure.The changes of bone mineral density (BMD) and bone metabolism indexes including serum calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), osteocalcin (OC), parathyroid hormone (PTH), 25 hydroxyvitamin D [25-(OH)D] before treatment and at 3, 6 and 12 months after treatment were observed.Result:s (1) Bone metabolism indicators and BMD had no significant difference among groups before treatment (all P>0.05). (2) After 6 and 12 months of treatment in OXC group, Ca was lower than before treatment[2.38(0.08) mmol/L vs.2.47(0.17) mmol/L, 2.44(0.10) mmol/L vs.2.47(0.17) mmol/L], PTH was higher than before treatment[37.64(17.52) ng/L vs.34.23(20.53) ng/L, 40.74(16.15) ng/L vs.34.23(20.53) ng/L]; Ca in TPM group decreased after 6 and 12 months of treatment[2.40(0.11) mmol/L vs.2.42(0.10) mmol/L, 2.41(0.09) mmol/L vs.2.42(0.10) mmol/L], and the differences were statistically significant(all P<0.05). (3) After 6 and 12 months of treatment, Ca in the OXC group was lower than that in the LEV group[2.38(0.08) mmol/L vs.2.44(0.10) mmol/L, 2.44(0.10) mmol/L vs.2.44(0.12) mmol/L] and LTG group[2.38(0.08) mmol/L vs.2.44(0.13) mmol/L, 2.44(0.10) mmol/L vs.2.42(0.13) mmol/L], and PTH in the OXC group was higher than that in the LEV group[37.64(17.52) ng/L vs.36.52(20.71) ng/L, 40.74(16.15) ng/L vs.31.89(14.84) ng/L] and LTG group[37.64(17.52) ng/L vs.39.39(24.03) ng/L, 40.74(16.15) ng/L vs.33.01(12.20) ng/L], Ca in TPM group after 12 months of treatment was lower than that in the LEV group[2.41(0.09) mmol/L vs.2.44(0.12) mmol/L] and LTG group[2.41(0.09) mmol/L vs.2.42(0.13) mmol/L], and the differences were statistically significant(all P<0.05). Conclusions:In the new AEDs, LEV and OXC have no significant effect on bone metabolism.TPM may affect bone metabolism by reducing Ca in children with epilepsy, and OXC may cause the decrease of Ca and the increase of PTH, thereby leading to increased bone turnover in children with epilepsy.
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Objective:To report the clinical and genetic characteristics of a family of creatine transporter deficiency (CRTR-D) caused by SLC6A8 gene mutation.Methods:A patient, who came from Department of Neurology, Shanxi Children′s Hospital in September 2018, with epilepsy and unexplained general developmental retardation, was clinically examined. The medical history of his family was also collected. Genetic detection was performed to analyze their genetic causes.Results:The proband, a three years and three months old boy, was walking unsteadily, unable to speak and having frequent seizures, with increased urine creatine/creatinine ratio and decreased peak of cerebral creatine indicated by magnetic resonance spectrum. The proband′s uncle had the similar symptoms with him. The mother of the proband only showed some learning difficulties, while the father, sister and grandparents of the proband had no symptoms. The proband was found to have TTC deletion mutation of SLC6A8 gene (NM_005629), c. 1222_1224del (p.Phe408del), suggestting the diagnosis of X-linked CRTR-D. The proband′s mother and grandmother had heterozygous mutations. The proband′s uncle carried the same hemizygous mutation, which was not detected in the proband′s father, sister or grandfather.Conclusion:In this family of CRTR-D caused by SLC6A8 gene mutation, two female carriers with the same mutation presented different clinical features, suggesting phenotypic variation, which has a great significance in studying the correlation between genotype and phenotype.