Clinical features analysis of non-classic infantile glycogen storage disease type Ⅱ / 中华实用儿科临床杂志

Objective To summarize the clinical features of non-classic infantile glycogen storage disease type Ⅱ for early diagnosis.Methods The clinical data including the clinical manifestations and investigation of the 3 nonclassic infantile glycogen storage disease type Ⅱ were retrospectively reviewed from Jun.to Jul.2011.All the 3 cases were diagnosed by measuring acid α-glucosidase (GAA) activity in blood sample.Results All the 3 patients presented development delay,limb muscle weakness without hepatomegaly.Two cases of them presented weakness of respiratory muscle.The serum creatine kinase,aspartate aminotransferase and alanine aminotransferase were high in all the 3 patients.Electromyography studies indicated that one of the patients with susceptible myopathy,one patient with neurogenic damage and one patient with mixed damage of the neuromascular.Echographic evidence of hypertrophic cardiomyopathy was detected in 2 patients.GAA activity of the 3 patients in blood sample had diagnostic value.Conclusions Nonclassic infantile glycogen storage disease type Ⅱ is easy to be missed due to its non-significant clinical manifestations.The results suggested that GAA activity in blood sample should be screened for the patients with motor development delay,decreased muscle weakness/exercise tolerance and increased of serum creatine kinase.

Clinical and electrophysiologic characteristics of anti-N-methyl-D-aspartate receptor encephalitis in children / 中华实用儿科临床杂志

Objective To explore the clinical and electrophysiologic features of anti-N-methyl-D-aspartate receptor(NMDAR) encephalitis in children.Methods The clinical records and findings of electroencephalogram(EEG) of the anti-NMDAR encephalitis patients diagnosed in the Capital Institute of Pediatrics were reviewed and analyzed.Five patients with anti-NMDAR encephalitis were identified,including 4 boys and 1 girl,aged from 2 years and 6 months to 6 years and 8 months.Results No tumor was found in those patients.Four patients developed the symptoms of seizure at first,and suffered from consciousness disturbance and movement disorder later,while the other patient was found to be affected by language disorder at first.All patients were treated with methylprednisolone and intravenous immunoglobulin therapy,and plasma exchange and (or) CD20 monoclonal antibodies were used when the patient did not respond well to the treatment.With this immunotherapy used,the patients showed great improvement in cognitive,language and movement abilities,but 1 relapsed 9 months after discharge.All patients had abnormal electroencephalogram with diffusive slow waves,and some with focal spikes or sharp waves.After the patients recovered,EEG showed fewer slow waves,and even normal backgrounds.Conclusions Anti-NMDAR encephalitis can be found in children,even young boys may be affected by it without tumors.For those suffering from this disease,seizure and language disorder may be one of the initial symptoms,and movement disorder and consciousness alteration will occur later.In treating this disease,immunotherapy proves effective.There is a risk of disease relapse if the immune treatment doesn't sustain long enough.

Cognitive function of 172 cases of 6 - 13 years old children with epilepsy in regular school / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the cognitive function, its correlation with and the impact on quality of life in epileptic children aged 6-13 years in regular school.</p><p><b>METHOD</b>Cognitive function of 172 children with various types of epilepsy were measured using a computerized neuropsychological test battery including six items. Their scores across the neuropsychological measures were compared with 172 healthy control subjects from the general population strictly matched for age, sex and the region where education was accepted. The quality of life was measured in 105 cases by the Quality of Life in Epilepsy Inventory (QOLIE-31).</p><p><b>RESULT</b>(1) After adjusting for age, gender, and education, children with epilepsy performed significantly worse than healthy control subjects on 5 of 6 cognitive tasks, including Raven's progressive matrices correct number (8.6 vs. 14.0), choice reaction time (620.4 ms vs. 489.5 ms), word-rhyming tasks (2796.9 ms vs. 2324.4 ms), simple substraction correct number (28.6 vs. 35.5)as well as number comparision (1002.4 ms vs. 803.1 ms), P < 0.01. When an impairment index was calculated, 44.2% patients had at least one abnormal score on the test battery, compared with 14.5% of healthy volunteers, there was statistically significant differences between the two groups, P < 0.001. (2) Children with new onset epilepsy before the treatment with anti-epilepstic drugs performed significantly worse than healthy controls on 5 of 6 cognitive tasks, including Raven's progressive matrices correct number (9.1 vs. 13.8), choice reaction time (625.8 ms vs.474.5 ms), word-rhyming tasks(3051.8 ms vs. 2575.4 ms), simple substraction correct number (28.9 vs. 35.3) as well as number comparison (942.4 ms vs. 775.8 ms), P < 0.01. (3) Cognitive performance was not related to the age of onset, type of epilepsy, therapy duration or comorbid emotional and behavior disorders, P > 0.05. (4) 105 cases filled in the QOLIE-31 questionaire, the total score of the quality of life in the group without cognitive impairment and psychical conditions was the highest (60.5 ± 0.9), and the lowest total score was found in group with cognitive impairment and psychical conditions (54.6 ± 1.5), there were highly significant differences between the groups, P < 0.001.</p><p><b>CONCLUSION</b>Almost one-half of the children with epilepsy accepting regular education had at least one abnormal score in the battery tests. Newly diagnosed untreated patients with epilepsy are cognitively compromised before the start of antiepileptic drug medication. Cognitive impairment was not related to the epilepsy-related or psychiatric variables. Cognitive impairment and mental disorders require further attention and essential therapy, which is important to the improvement of the quality of life in epileptic children.</p>

Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the point mutations in survival motor neuron gene 1 SMN1 gene and confirm the existence of compound heterozygous mutations in Chinese patients with spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Three unrelated patients were diagnosed and clinically typed according to the criteria of proximal SMA established by the International SMA Consortium. Multiplex ligation-dependent probe amplification (MLPA) analysis was carried out to measure the copy numbers of SMN1, SMN2 and neuronal apoptosis inhibitory protein gene (NAIP)in the patients. The point mutation analysis of SMN1 gene was performed by reversed transcript-polymerase chain reaction (RT-PCR) and cloning sequencing. The MLPA assay and point mutation analysis were also performed in the family members to confirm the transmission of the mutations.</p><p><b>RESULTS</b>Two point mutations were identified in the present study, i.e., the p.Leu228X in one patient and p.Arg288Met in two patients. The mutation p.Arg288Met was first reported in Chinese and p.Leu228X was first reported in Mainland Chinese. The case carrying p.Leu228X mutation was diagnosed as SMA I with 2 copies of SMN2, and the cases with p.Arg288Met were diagnosed as SMA I and SMA II , respectively, with 3 copies of SMN2 gene.</p><p><b>CONCLUSION</b>The mutations p.Leu228X and p.Arg288Met caused severe clinical phenotypes, SMA I or SMA II. This study suggested that the compound heterozygous mutations of SMN1 existed in Chinese SMA patients, which was rarely reported previously in Chinese. It was necessary to detect the point mutation in SMN1 for genetic diagnosis of those patients with heterozygous deletion of SMN1, which would be beneficial to prenatal diagnosis and genetic counseling in these families.</p>

Mutation analysis of SMN1 gene in patients with spinal muscular atrophy / 中华儿科杂志

<p><b>OBJECTIVE</b>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder. About 80% - 90% of SMA patients are missing both copies of SMN1, and 5% - 10% of patients are compound heterozygotes. In the present study, we aimed to analyze survival motor neuron 1 (SMN1) gene mutation in three patients with spinal muscular atrophy and their families to explore the effect of mutation on SMN protein function and the relationship between mutation and clinical phenotype.</p><p><b>METHOD</b>According to the international criterion, all patients were diagnosed by a neurologist. Patient 1 is a 5 years old boy with SMA type II. Patient 2, female, 2.5 years old, was SMA type II. Patient 3, female, 9 years old, was SMA type III. The brother of patient 3 was SMA type II, too. The age at last examination was 14 years. Genomic DNA was extracted from peripheral blood leukocytes by using standard phenol/chloroform method and total RNA was extracted from whole blood with QIAamp RNA Blood Mini Kit. PCR/RFLP was used to detect the homozygosis deletion of the SMN1 exon 7, and multiplex ligation-dependent probe amplification (MLPA) were performed to analyze the gene dosage of SMN1 and SMN2 for each patient and his/her family members; reverse transcriptase (RT)-PCR and clone sequencing were conducted for identifying the point mutation of SMN1 in three patients. The sequencing of genomic DNA and MLPA were carried out in the 3 families members to confirm the transition of mutation.</p><p><b>RESULT</b>No homozygous deletion of the SMN1 exon 7 was observed in any member of the 3 families. Case 1 and case 2 had one SMN1 copy compound with c.400G > A (p.Glu134Lys) mutation on it and SMN2 was two copies, respectively. Case 3 and her brother also had one copy of SMN1 and two copies of SMN2, and a mutation c.689C > T (p.Ser230Leu) occurred on the retained SMN1. All point mutations were from their fathers and deletion come from their mothers for SMN1 gene.</p><p><b>CONCLUSION</b>In this work, p.Glu134Lys and p.Ser230Leu mutations were identified in three unrelated families and p.Glu134Lys from two patients was first discovered in Chinese SMA. The p.Glu134Lys mutation within the SMN Tudor domain prevents the binding of SMN and Sm. The fact that p.Ser230Leu results in a polar amino acid substituted for non-polar amino acid possibly affects the structure of SMN and then damages its function. SMN1 point mutation analysis is not only advantageous to the diagnosis of those patients with heterozygous deletion of SMN1, but will be beneficial to the prenatal diagnosis and genetic counseling for their families.</p>

Emotional and behavioral comorbidities and the impact on the quality of life in epilepsy children / 中华儿科杂志

<p><b>OBJECTIVE</b>To find out the rate of comorbidities of depression, anxiety disorder and attention deficit hyperactivity disorder (ADHD) symptoms in children with epilepsy and to analyze the relevant affecting factors and impacts on quality of life.</p><p><b>METHOD</b>Totally 142 children with various types of epilepsy underwent neuropsychological assessment with the Depression Self-rating Scale for Children, the Screen for Child Anxiety Related Emotional Disorders and the ADHD Rating Scale-IV, an 18-item parent-rated questionnaire based on the diagnostic criteria for ADHD, the quality of life was measured in 100 cases on antiepileptic medications by the Quality of Life in Epilepsy Inventory (QOLIE-31). The comorbidity rates were calculated using t-test, chi(2) test and multiple logistic analysis, the variables associated with psychiatric comorbidities were determined, and the impact on quality of life was analyzed.</p><p><b>RESULT</b>(1) The total rate of emotional and behavioral comorbidities was 57.7% (82/142), the frequency of depressive disorder, anxiety disorder and ADHD was 14.8%, 44.4% and 17.6%, respectively. The suicidal ideation occasionally occurred in 5.6% of the cases and 0.7% of cases often had the ideation, but no suicidal action was found in any case. (2) Risk factors for the emotional and behavioral disorders: multiple logistic analysis indicated that age, gender and epilepsy illness-related variables were not relative to the comorbidities, P > 0.05, there were interactions among the disorders. (3) The impact on the quality of life: The emotional and behavioral conditions were associated with the low quality of life, which was significantly lower in epileptic children with co-morbid disorder compared to non-comorbidities epilepsy group. Especially negative impact on the total score of quality of life and four sub-items such as overall quality, emotional well-being, cognitive and social function, P < 0.001. There were also significant differences between the two groups in the other three sub-items including fear for seizure attack, energy/fatigue and medication effects (P < 0.05).</p><p><b>CONCLUSIONS</b>The frequency of emotional and behavioral disorders including depress disorder, anxiety disorder and ADHD was considerably high in children with epilepsy. Age, gender and epilepsy illness-related variables are not associated with the emotional and behavioral comorbidities, which interfere with each other. Emotional and behavioral disorder is one of the negative factors to the quality of life in epileptic patients. Neuropsychological assessment and treatment are important for improvement of the quality of life in children with epilepsy.</p>

Curative Effect and Adverse Reaction of Oxcarbazepine on Treating Epilepsy in Children / 实用儿科临床杂志

Objective To study the curative effect and adverse reaction of Oxcarbazepine(OXC)on treating epilepsy in children.Me-thods One hundred and twenty-nine children with different types of epilepsy were orally given OXC,and the drug dose was added gradually.According to the seizure frequency,the cases were divided into 2 groups.Group A:more than 3 seizures occurred in 3 months prior to to take OXC;group B:more than 3 seizures occurred in 1 year prior to taking OXC.After 5 months and 1 year from beginning to take OXC,the original curative effect of the 2 groups was evaluated,respectively;on the other hand,the adverse reaction and the retention were studied.Results 1.Original effect:the rate of seizure-free was 45.8% and the total curative efficiency was 66.7% in group A(n=47);the rate of seizure-free was 92.3% in group B(n=13);in 60 partial epilepsy children,the rate of seizure-free was 56.7% and the total curative efficiency was 73.3%;Both rates were 62.2% and 75.6% of patients with OXC monotherapy and 40%,66.7% of patients were given OXC in combination with another antiepileptic drugs.2.Drug adverse reaction:24% of patients were found to have adverse reaction and most of the symptoms were light and most transient.3.Tolerability:patients' retention of OXC in 1 year was 72.2%,and in 2 years was 80.0%.Conclusions The antiepileptic effect of OXC is satisfactory and adverse reaction is light and mostly transient,OXC as a new antiepileptic drug is well tolerated as monotherapy and adjunctive therapy and should be used extensively.J Appl Clin Pediatr,2009,24(1):53-55