Epilepsy is a common disorder of neurological system in children.Inborn errors of metabolism (IEMs) is one of an important etiology of epilepsy.Seizures may be the first and the major presenting feature of IEMs.IEMs are a relatively rare cause of epilepsy,but their recognition and diagnosis is very important because several disorders are treatable.This review will concentrate on diseases where epilepsy is the predominant clinical manifestation and especially where the disease course can be positively influenced by specific metabolic therapies.

Pharmacogenomics is defined as the study of variation in DNA and RNA at the whole genome level,and its effects on drug response including effectiveness and adverse events.Pharmacogenomics is helpful for individualized drug therapy.The role of pharmacogenomics in antiepileptic drugs in therapy of epilepsy was briefly reviewed.

Although the ketogenic diet(KD) has originally been used to treat epilepsies,plenty of evidence about the efficacy to intractable epilepsy has not accumulated until recently.These epilepsy or epilepsy syndrome include:Dravet syndrome,Doose syndrome,infantile spasms,Angelman syndrome with epilepsy,tuberous sclerosis complex and focal cerebral dysplasia or other structural epilepsy.It is worth paying more attention to the efficacy of KD on cognition,language development and behavior problems.

High-frequency oscillations are used more and more widely on localizing epileptogenic zone and evaluating outcome as the surgery on epilepsy cases are increasing and the technique of electroencephalogram (EEG) are being improved.High-frequency oscillations are recorded by intracranial electrodes on most previous studies.However,recent reports describing high-frequency oscillations on scalp EEG recordings have created significant interest.Scalp high-frequency EEG provides a safe,non-invasive and simple method for us to study the special brain electrical activity.This paper summary the clinical applications and some questions on scalp high-frequency EEG.

Objective To compare the intelligence quotient (IQ) between children with Asperger syndrome (AS) and children with attention deficit hyperactivity disorder (ADHD) in order to provide reliable evidence for differential diagnosis.Methods The intelligence of 141 children with AS,154 children with ADHD and 102 normal control (NC) children aged 6-13 years old examined by the China-Wechsler Intelligence Scale for Children was analyzed,and the diagnoses of AS and ADHD was made according to the Fourth edition of the Diagnostic and Statistical Manual of Mental Disorder.Results The proportions of children at low level of IQ (borderline and mental retardation range) in children with AS and with ADHD group were both significantly higher than those of NC group.The proportions of children at top level of IQ (superior and very superior range) in ADHD group were significantly lower than those of AS and NC groups.In the AS group,higher proportions of verbal IQ (VIQ) at top level and performance IQ (PIQ) at low level were found.The average VIQ,PIQ and full IQ (FIQ) of the AS,ADHD and NC groups were (102.55 ± 17.27,91.31 ± 16.01,97.10 ± 15.88),(95.39 ±13.49,94.16 ± 12.92,94.40 ± 12.78) and (104.06 ± 13.66,103.05 ±11.80,103.91 ± 12.92),respectively.The VIQ,PIQ and FIQ in ADHD group were lower than those in NC group significantly(P ＜ 0.01);compared with NC group,the PIQ and FIQ in AS group were significantly lower (P ＜ 0.01),while the VIQ was not significantly different(P ＞0.05).The AS and ADHD group scored both lower than the NC groupin the subtests ofcomprehension, coding, picture completion andpicture arrangement (P ＜ 0.01).The difference values between VIQ and PIQ in the AS,ADHD and TD group were(11.23 ± 17.29),(1.23 ± 13.10) and (1.00 ± 10.91),respectively,among which only the value in AS group was statistically significant (P ＜ 0.01) but not in ADHD and NC group(P ＞0.05).The proportion of children having a VIQ-PIQ difference value more than 15 in AS group was 54.60％ (77/141 cases),which was significantly higher than that in ADHD [22.07％ (34/154 cases)] and NC groups [13.72％ (14/102 cases)] (P ＜ 0.01),while the latter 2 value had no statistical difference (P ＞ 0.05).The differences among scores on the three Kaufman factors were significant in AS group (P ＜ 0.01) but not in ADHD and NC groups(P ＞ 0.05).Conclusions Compared with ADHD and normal control children,there are some unique intelligence profiles in children with AS,which show VIQ and PIQ separation,imbalance intelligence structure as well as strengths and weaknesses coexisting.Furthermore,children with ADHD and AS children share common features in some subtests scores.

Objective To measure the fractional anisotropy(FA) values in the language function areas(Broca area,Wernicke area and arcuate fasciculus)by diffusion tensor imaging(DTI),discussing the pathological characteristics in cerebral palsy children with language development delay.Methods DTI was performed in twenty-seven cerebral palsy children with language development delay(observation group) and 20 children with febrile seizures(control group) by Philips 3.0T MRI scanner.The FA values of Broca area,Wernicke area and arcuate fasciculus were measured at Philips Workstation.Results The FA values of control group in the left Broca area,Wernicke area and arcuate fasciculusis were higher than those of the right side,and the difference was statistically significant (all P ＜ 0.05).The FA value of observation group in the left Broca area was lower than that of the right side,and the difference was statistically significant (P ＜ 0.05);the FA values of observation group in the left Wernick area and arcuate fasciculusis were higher than those of the right side,but the difference was not statistically significance (all P ＞ 0.05).The FA values in the bilateral Broca area and arcuate fasciculusis of observation group were lower than those of the control group,the difference was statistically significant (P ＜ 0.05),those in the bilateral Wernick area were also lower than the control group,but the difference was not statistically significant (P ＞ 0.05).Conclusions The main pathogenesis for language development delay in cerebral palsy children was extensive damage in language functional areas,and Broca area and arcuate fasciculus were markedly impaired than Wernick area.

Listeria disease (LD) is a zoonosis,caused by Listeria monocytogenes (LM),the main route of transmission is foodborne spread,can cause outbreak.Pregnant women and their fetuses or neonates,older adults,and persons with underlying conditions that impair cell-mediated immunity are at a particularly high risk of invasive listeriosis.The gastroenteritis,meningitis and bacteremia are the common clinical feature.LD in children is rare.It can cause the neonates sepsis and central nervous system infection.Because of the natural resistance to cephalosporins,the choice of antibiotics seemd more important.By this article,LM in children and benefit for clinical work was recognized.

Tsutsugamushi disease is an acute infectious disease caused by Rickettsia tsutsugamushi.The clinical symptoms of tsutsugamushi disease are varied and non-specific,such as sudden onset fever with chills,rash,skin eschar of ulcer,lymphadenectasis,et al.Patients could combine with multi-organ dysfunction,include respiratory failure,heart failure,mild renal or hepatic dysfunction,circulatory shock or hematological abnormalities.Since the symptoms and signs are non-specific and resemble other tropical infections like malaria,enteric fever,dengue or leptospirosis,appropriate laboratory tests are necessary to confirm diagnosis,and reduce misdiagnosis and missed diagnosis rate.The mainstay of treatment is the tetracycline,chloramphenicol,macrolide and quinolone group of antibiotics.In mild cases,recovery is complete.In severe cases with multi-organ failure,mortality may be as high as 24％.Improve the early diagnosis and timely treatment of the disease,for improving the prognosis of patients,reduce the disease burden is of great significance.

Objective To analyze the potential risk factors of infantile spasms (IS) relapse through following up the respondents with IS after different treatment protocols.Methods Sixty-nine cases were collected in the Department of Pediatric Neurology,Jiangxi Children's Hospital from May 2011 to September 2013,who had complete cessation of spasms for at least 28 days or more after the different treatment protocols.The follow-up was performed on these patients until spasms seizure relapse or at least 1 year for those without recurrence.According to the literature review,8 possible risk factors of IS recurrence (gender,age of onset,course of diseases,etiology,high irregular types of electroencephalogram,development quotient,onset time,treatment protocols) were selected,and then Logistic multiple regression was used to analyze the relationship of various potential risk factors with the relapse of spasms.Results (1) The recurrence rate at 6 months and 12 months were 40.6％ (28/69 cases)and 43.5 ％ (30/69 cases),respectively.(2) Among the various potential factors,the age at onset and the time to response were closely related to the IS recurrence.Namely,the non-classic onset(early-onset and late-onset) of IS were more likely to relapse than the classic onset[66.7％ (14/21 cases) vs 33.3％ (16/48 cases),x2 =6.605,P =0.010];the responders beyond 1 week were more likely to relapse than those within 1 week[63.6％ (14/22 cases) vs 34.0％ (16/47 cases),x2 =5.341,P =0.021].There were significant differences between the 2 groups (all P ＜ 0.05).(3) Logistic multiple regression analysis demonstrated that age at onset (Wald =3.603) was most closely related to the relapse of spasms.Conclusions (1) The relapse rate of IS in children was high,and the majority of them relapsed within 6 months.So a long-term,rational and effective clinical management solution should be explored.(2) The age at onset and the time to response are very important risk factors of the IS recurrence,and the former was more significant.So,early diagnosis and early treatment are more likely to improve the efficacy of IS,and reduce the risks of recurrence and improve the prognosis.

Objective To discuss whether Omega-3 fish oil fat emulsion has the potential protective mechanism for 7-day-old rats with hypoxic-ischemic brain damage (HIBD).Methods One hundred and sixty-eight 7-day-old SD rats were randomly divided into 4 groups:group A (sham group),group B (Omega-3 fish oil fat emulsion group),group C (normal fat emulsion group),group D (model group),and there were 42 cases in each group.Neonatal HIBD was induced by the method of Rice.Rats were sacrificed at 1 d,3 d and 7 d after the surgery.Hippocampus was removed for Real-time PCR and Western blot test to detect Toll-like receptor 4 (TLR4) and nuclear factor-κB (NF-κB) mRNA and protein expression.TUNEL staining comparison was done among different groups to observe the number of cellular apoptosis.Results HE staining of hippocampus CA1 area in 3 d showed that brain tissues in group A maintained normal structures;those in group D had much more brain cells with severe edema than other groups;TLR4 and NF-κB mRNA and protein expression levels in group D were higher than those in group A in 1 d (all P ＜0.05);TLR4 and NF-κB expression levels of mRNA and protein in group B (4.89 ± 0.51,9.30 ± 1.53;1.15 ±0.10,1.44 ± 0.14) were lower than those in group C (17.58 ± 2.50,20.13 ± 1.00;2.56 ± 0.10,2.82 ± 0.09) and group D (15.94-± 2.52,26.21 ± 3.00;2.34 ± 0.11,4.51 ± 0.36) in 3 d (all P ＜ 0.05),and compared with group A (6.30 ± 1.52,5.32 ± 1.06;1.32 ± 0.10,2.42 ± 0.14),there was significant difference (all P ＞ 0.05);TLR4 and NF-κB mRNA and protein expression levels in group B were lower than those in group C and group D in 7 d(all P ＜0.05),and compared with group A there was no significant difference (all P ＞ 0.05).The apoptotic cell number of brain tissues in 3 d:group B (13.67 ±2.52) were lower than those in group C (27.67 ±2.52) and group D (41.00 ±3.61) (all P ＜0.05),and compared with the group A (6.00 ±2.00),the difference was not statistically significant (P ＞ 0.05).Conclusions Omega-3 fish oil fat emulsion plays an important role in protecting neonatal rats with HIBD.The mechanisms were likely to reduce TLR4,NF-κB and cell apoptosis levels.