Objective:To summarize the characteristics of neuralgia in Fabry disease and explore the effects of genders and alpha-galactosidase A (GLA) gene mutation types on neuralgia.Methods:Questionnaires and Brief Pain Inventory evaluations were conducted on the recruited patients diagnosed as Fabry disease in Department of Neurology, Peking University First Hospital from January 2001 to April 2020. The characteristics of the neuralgia were summarized, and the portrait of neuralgia between male and female patients, and the patient groups carrying truncated mutations and non-truncated mutations of GLA gene was compared.Results:A total of 93 patients with Fabry disease were enrolled. The incidence of neuralgia was 91.4% (85/93),and the average onset age of pain was 9 years. The average remission age was 20 years with the remission incidence of 22.8% (18/79). Pain attack on extremities [96.5%(82/85)] was the most common form. The neuralgia relieving rate of male patients [17.5%(11/63)] was lower than that of females (7/16, χ2=5.01, P=0.025).Brief Pain Inventory scores showed that the degree of most severe pain attack within 24 hours of male patients (4.16±3.20) was higher than that of females (2.07±2.02, t=3.03, P=0.004),and the impact of pain on daily life [male 4 (7) vs female 0 (4), Z=-2.33, P=0.020], walking ability [male 5 (8) vs female 0 (2), Z=-2.87, P=0.004], daily work [male 5 (8) vs female 0 (2), Z=-3.10, P=0.002], relationship [male 2 (6) vs female 0 (3), Z=-2.67, P=0.008] and interests [male 4 (8) vs female 0 (3), Z=-2.81, P=0.005] of male patients was also higher than female patients. The truncated mutation group [1 (2)] only showed higher score on the current pain level than the non-truncated mutation group [0(0), Z=-2.89, P=0.003]. Conclusions:The neuralgia in Chinese patients with Fabry disease showed high incidence and early onset. Male patients presented more severe pain than female which led to a greater impact on life, while the type of GLA gene mutation had less impact on neuralgia.

BACKGROUND:To date, no national-scale psychiatric epidemiological survey for children and adolescents has been conducted in China. In order to inform government officials and policymakers and to develop a comprehensive plan for service providers, there was a clear need to conduct an up-to-date systematic nationwide psychiatric epidemiological survey. METHODS:We conducted a two-stage large-scale psychiatric point prevalence survey. Multistage cluster stratified random sampling was used as the sampling strategy. Five provinces were selected by comprehensively considering geographical partition, economic development, and rural/urban factors. In Stage 1, the Child Behavior Checklist was used as the screening tool. In Stage 2, Mini-International Neuropsychiatric Interview for Children and Adolescents and a diagnostic process based on the Diagnostic and Statistical Manual were used to make the diagnoses. Sampling weights and poststratification weights were employed to match the population distributions. Exploratory analyses were also performed using socio-demographic factors. Prevalence in socio-demographic factor subgroups and overall were estimated. Rao-Scott adjusted chi-square tests were utilized to determine if between-group differences were present. Factor interactions were checked by logistic regression analyses. RESULTS:A total of 73,992 participants aged 6-16 years of age were selected in Stage 1. In Stage 2, 17,524 individuals were screened and diagnosed. The weighted prevalence of any disorder was 17.5% (95% CI: 17.2-18.0). Statistically significant differences in prevalence of any psychiatric disorder were observed between sexes [χ2 (1, N = 71,929) = 223.0, p < .001], age groups [χ2 (1, N = 71,929) = 18.6, p < .001] and developed vs. developing areas [χ2 (1, N = 71,929) = 2,129.6, p < .001], while no difference was found between rural and urban areas [χ2 (1, N = 71,929) = 1.4, p = .239]. Male, younger individuals, children, and adolescents from developed areas had higher prevalence of any psychiatric disorder. The prevalence of any psychiatric disorder was found to decrease with the age in the male group, while the female group increased with the age. Individuals diagnosed with attention-deficit hyperactivity disorder, oppositional defiant disorder, a tic disorder, conduct disorder, and major depression disorder had the highest rates of comorbidity. CONCLUSIONS:The prevalence of any psychiatric disorder we found is the highest ever reported in China. These results urgently need to be addressed by public mental health service providers and policymakers in order to provide access to the necessary treatments and to reduce the long-term negative impact of these conditions on families and the society as a whole.

Purpose: Spectral power analysis of quantitative EEG has gained popularity in the assessment of depression, but findings across studies concerning poststroke depression (PSD) have been inconsistent. The goal of this study was to determine the extent to which abnormalities in quantitative EEG differentiate patients with PSD from poststroke nondepressed (PSND) subjects. Methods: Resting-state EEG signals of 34 participants (11 patients with PSD and 23 PSND subjects) were recorded, and then the spectral power analysis for six frequency bands (alpha1, alpha2, beta1, beta2, delta, and theta) was conducted at 16 electrodes. Pearson linear correlation analysis was used to investigate the association between depression severity measured with the Hamilton Depression Rating Scale (HDRS) total score and absolute power values. In addition, receiver operating characteristic curves were used to assess the sensitivity and specificity of quantitative EEG in discriminating PSD. Results: In comparison with PSND patients, PSD patients showed significantly higher alpha1 power in left temporal region and alpha2 power at left frontal pole. Higher theta power in central, temporal, and occipital regions was observed in patients with PSD. The results of Pearson linear correlation analysis showed significant association between HDRS total score and the absolute alpha1 power in frontal, temporal, and parietal regions. Conclusions: Absolute powers of alpha and theta bands significantly distinguish between PSD patients and PSND subjects. Besides, absolute alpha1 power is positively associated with the severity of depression.

2019年10月1日,由中华医学会心血管病学分会第十届委员会高血压学组组织撰写的英文版《中青年高血压管理专家共识》(《共识》)在International J our-nal of Clinical Practice(《国际临床实践杂志》)在线发表[1].这是一部中青年高血压管理的系统性文件,也是国际上关于中青年高血压管理的第一部共识.

Objective To investigate the characteristics of health-related risky behaviors in adolescents with High Functioning Autism (HFA). Methods Fifty adolescents aged 12-18 years, IQ≥70 and meeting the criteria of autistic disorder in Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-Ⅳ), and 50 age-and gendermatched healthy controls were recruited. The health-related risky behaviors of all subjects were assessed with the Adolescents Health-related Risky Behavior Inventory (AHRBI). The parents of autistic subjects completed the Adolescents Health-related Risky Behavior Inventory for Parent (AHRBI-P). Results HFA group had higher total scale score and four subscales' scores of AHRBI than controls, including Suicide and Self-Injury (SS), HealthCompromising Behavior (HCB), Aggression and Violence (AV) and Rule Breaking (RB) (all P＜0.05). HFA group had higher scores than controls in the items of "Bullying/Threatening/Intimidating partner", "Deliberately pushing and shoving others", "Not drinking milk/soy milk", "Not participating in any form of physical activity", "Skiping class/Playing truant", "Running away from home", "Biting/Scratching/Bumping to hurt oneself" (all P＜0.05). Among all the subscales and items, the scores of HCB, SS, "Not drinking milk/soy milk", "Physical discomfort due to dieting", "Fighting and Arms-taking" and "Drinking" of self-assessment in HFA group were higher than those of parents' assessment (all P＜0.05]. Conclusion The adolescents with HFA have more health-related risky behaviors than the healthy adolescents except for Smoking and Drinking (SD) and Unprotected sex (US).

Depressive disorders are frequently managed with long-term use of antidepressant medication. Fluoxetine (FLX) is the first selective serotonin reuptake inhibitor to be widely available for the treatment of depression. The present study focuses on the effects and mechanisms of the lipid metabolism abnormalities caused by FLX in patients and in a mouse model of depression. Depression severity was assessed by the Hamilton Depression Scale (HAMD). Triglyceride (TG), cholesterol (TC) and low-density lipoprotein (LDL) serum levels were assessed in 28 patients with depression, aged 31.2±3.3 years, treated with FLX (20 to 60 mg/day) for 8 weeks. Meanwhile, the serum levels of other lipid metabolism-related parameters, such as high-density lipoprotein (HDL), apolipoprotein A1 (APOA1) and apolipoprotein B (ApoB), were also determined. The infiuence of FLX on the hepatic lipid profile and hepatic gene expression of both lipogenic and lipolytic enzymes was evaluated in a mouse model of depression treated with FLX (10 mg·kg −1 ·d −1 , ip) for 4 weeks. We showed that the serum TG, TC and LDL levels were significantly increased in patients with depression after FLX treatment. The elevation in serum TG levels in the patients was not affected by gender or family history. FLX treatment did not significantly alter serum HDL, APOA1 or APOB levels in the patients. We further demonstrated in mice with depression that FLX treatment increased the hepatic TG level by increasing the expression of lipogenic enzymes and decreasing the expression of lipolytic enzymes in the liver. Antidepressive therapy with FLX is associated with lipid metabolism abnormalities, which are in part mediated by disturbances in hepatic lipid metabolism homeostasis. The findings contribute to the uncovering of metabolic adverse reactions in the pharmacological therapy of depression.

一个下午,走在回家的路上,我突然感觉胸部剧痛,并在接下来的几个小时内急剧加重.当晚我无论横躺还是竖卧都无法入睡——平卧时感觉胸部像是被挤碎了一样.第二天早晨,疼痛放射到我的背部、左肩、颈部及手臂.最后我叫了救护车. 一开始,检查集中在心脏功能上,但结果看上去没什么毛病.要是胸部X线检查没问题,我很可能会被告知可能是肌肉受到了牵拉,用点布洛芬,就可以回家休息了. 不幸的是,结果并非如此.

Objective To evaluate the effect and adverse effect of narcotic drugs in elderly people with painless gastroscopy.Methods One thousand eight hundred patients aged ≥ 60 years undergoing painless gastroscopy were se lected by stratified random sampling from July 1,2013 to July 1,2016.According to the use of narcotic drugs,the patients were divided into two groups as PS group (propofol + sufentanil) and ES group (etomidate + sufentanil).The differ ences in heart rate,blood pressure,oxygen saturation,anesthetic effect,recovery time,and respiratory depression between the two groups were analyzed.Results The age of patients was 68.5 ± 9.4 years,and the weight was 58.3 ± 15.7 kg.There were no significant differences between the two groups in heart rate,blood pressure,oxygen saturation,anesthetic effect,recovery time,and respiratory depression (all P ＞ 0.05).The detection rate of hypotension in PS group was signif icantly higher than that of ES group (x2 =8.49,P =0.004).Conclusion Both propofol combined with sufentanil and etomidate combined with sufentanil were feasible and safe for aged patients with painless gastroscopy,but hypotension should be observed closely.

The comorbidity of epilepsy and autism is a common clinical phenomenon.About 5％ ～ 37％ of children with epilepsy have autism or have positive screening for autism.About 2％ ～ 46％ of individuals with autism have epilepsy.The family history of mental disorders,adverse perinatal factors,female,autistic features,intelligence disability,genetic or neurological syndromes and genetic factors increase the risk of comorbidity of the two diseases.In children with the two diseases,epilepsy onsets earlier with two onset peaks before 5 years and during puberty;partial seizure and intractable epilepsy is more common;the symptom of autism is more severe,with more intelligence disability,more motor development and behavior problems and worse adaption behaviors.It is important to recognize,diagnose and treat the two diseases.

Objective To analyze the differences of the clinical and neuropathological features among the common Charcot-Marie-Tooth disease (CMT) subtypes.Methods There were 81 CMT patients confirmed by genetic testing from 2005 to 2015 in Department of Neurology,Peking University First Hospital,including 31 cases of CMT1A (38.3％),19 cases of CMTX1 (23.5％),16 cases of CMT2A2 (19.8％) and 15 cases of 9 rare types of CMT (1.2％-4.9％).We compared the onset age,duration,muscles weakness of legs,frequency of pes cavus,and main pathological changes of the sural nerve biopsy in 48 cases of the common CMT subtypes.Results The mean age of the onset was (12.00 ± 6.77) years in CMT1A patients,(11.81 ±4.65) years in CMTX1 patients and (5.00 ±2.68) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The duration was (12.00 ± 6.75) years in CMT1A patients,(8.50 ± 4.75) years in CMTX1 patients and (5.00 ± 2.73) years in CMT2A2 patients (Brown-Forsythe test,P =0.001).The muscle force of the dorsi flexors was Ⅳ (0,Ⅴ) in CMT1A patients,Ⅲ + (0,Ⅳ) in CMTX1 patients and 0 (0,Ⅳ) in CMT2A2 patients (H =11.359,P =0.020).The pes cavus appeared in 15/23 cases of CMT1A,10/16 cases of CMTX1 and 1/9 cases of CMT2A2 (Fisher test,P=0.017).The leukoencephalopathy appeared only in 3 cases of CMTX1 and the visual loss appeared only in 3 cases of CMT2A2.The onion-bulb formations of myelinated fibers appeared in 23/23 cases of CMT1 A,5/16 cases of CMTX1 and 2/9 cases of CMT2A2(Fisher test,P =0.000).The axonal regeneration appeared in 16/23 cases of CMT1A,16/16 cases of CMTX1 and 9/9 cases of CMT2A2 (x2 =7.666,P =0.016).There were significant differences among the three common CMT subtypes in the above parameters.Conclusions CMT1A,CMT2A2 and CMTX1 are the most common subtypes of CMT in the present study.For the clinical diagnosis,more attention should be paid to the onset of the disease,duration,muscles weakness,pes cavus,cerebral symptoms and visual loss.The present frequency of onion-bulb and the axonal regeneration of myelinated fibers help the different pathological diagnosis among them.

Objective To investigate the clinical and genetic characteristics of a cohort of Chinese patients with large-scale single deletion in mitochondrial DNA (mtDNA).Methods Long-range PCR was performed to search large scale deletions in 70 patients' muscle mtDNA who were diagnosed with mitochondrial disease by clinical and muscle pathological examination.Then multiple restriction enzyme digestion of long-range PCR product followed by short-cycle PCR were used to define the exact size and location of large-scale deletions.We summarized the clinical phenotypes of patients,and analyzed the correlations between clinical phenotypes and size of mtDNA deletions in those patients with single large-scale deletion.Results Sixty-one patients were identified to have single large-scale deletion in their muscle mtDNA,including 54 patients with chronic progressive external ophthalmoplegia (CPEO),6 with KearnsSayre syndrome (KSS) and 1 with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes.Totally 37 patterns of mtDNA deletions were detected in this cohort of patients.The "common deletion",4 977 bp deletion appeared in 39.3％ (24/61) patients.The mean size of single deletion in CPEO patients was (5 052.17 ± 1 390.96) bp,while in KSS patients it was (5 912.43 ± 1 262.15) bp.There was no significant difference between CPEO patients group and KSS patients group.The size of deletions was correlated with onset age (r =-0.415,P =0.001).Conclusions Large-scale single deletion of mtDNA mainly causes CPEO and KSS.Patients with larger deletions present with earlier onset of disease.The mtDNA "common deletion" is also common in Chinese patients.

Objective To analyze membrane attack complex (MAC) expression in different types of idiopathic inflammtory myopathy (IIM).Methods We enrolled 57 cases of dermatomyositis (DM) , 37 cases of polymyositis (PM) ,9 cases of sporadic inclusion body myositis (sIBM) and 15 cases of autoimmune necrotizing myopathy with anti-signal recognition particle antibodies (SRP-ANM) in Department of Neurology at Peking University First Hospital from 2011 to 2014, and used x2 test or Fisher exact test to analyze MAC expression in muscle fibers and endomysial capillaries respectively.Results The total MAC expression in DM, PM, sIBM and SRP-ANM was 75.4％ (43/57), 86.5％ (32/37), 4/9 and 13/15 respectively.The MAC expression in muscle fibers was 50.9％ (29/57), 81.1％ (30/37) , 3/9 and 13/15 respectively.The MAC expression in endomysial capillaries was 49.1％ (28/57) , 24.3％ (9/37) , 1/9 and 6/15 respectively.The MAC expression in muscle fibers and endomysial capillaries of sIBM was less than other types of IIM.The MAC expression in muscle fibers of PM and SRP-ANM was higher than DM and sIBM, but there was no statistically significant difference between PM and SRP-ANM.The MAC expression in endomysial capillaries of DM and SRP-ANM was higher than PM and sIBM, while there was no statistically significant difference between DM and SRP-ANM (x2 =0.397, P =0.574).The MAC expression in four types of IIM had regional distribution, of which 11.6％ (5/43) of DM showed bundle distribution.Conclusion There are differences in the damage of MAC in various types of IIM, the damage of MAC in SRP-ANM indicated the pattern of both DM and PM.

心肌梗死是临床上常见的心血管危急重症之一,也是冠心病的一种特殊类型.通常情况下是指供应心脏血液的血管——冠状动脉在血压急剧升高、吸烟等诱发因素的作用下发生痉挛,或是在动脉粥样硬化的基础上斑块发生破溃,局部血栓形成,血流一过性或永久性中断,从而导致相应心肌发生缺血、坏死.如果血栓未完全堵塞血管腔或血栓形成后又自行溶解,临床上可表现为不稳定型心绞痛;如果冠状动脉完全被血栓堵塞,通常临床上表现为急性心肌梗死,甚至猝死.

Objective To describe clinical,neurophysiological and pathological features in 2 patients with glutamine-fructose-6-phosphate transaminase 1 (GFPT1)-related limb-girdle congenital myasthenic syndrome.Methods We recruited two patients diagnosed as GFPT1-related limb-girdle congenital myasthenic syndrome in Peking University First Hospital in March and June 2014 respectively.Then we collected clinical,laboratory,neurophysiological,neuropathological and genetic data of the 2 patients to characterize the disease features.We also followed up the two patients to evaluate therapeutic effects.Results Case 1 was a sixteen years old boy complaining of exercise related fatigue for 10 years.Case 2 was a nine years old boy complaining of exercise related fatigue for 6 years.Both patients revealed mild proximal weakness during physical examinations.The level of serum creatine kinase was 224 IU/L in case 1 and within normal range in case 2.Repetitive nerve stimulation with 3 Hz at axillary nerve revealed decremental response of the main compound muscle action potential amplitude,which was 46.9％ in case 1 and 17.5％ in case 2.Anti-acetylcholine receptor antibody was not detected in both cases.Both of them responded well to oral pyridostigmine bromide.Muscle biopsies and GFPT1 gene analysis were performed in 2 cases.Muscle biopsy revealed massive tubular aggregates within muscle fibers in case 1 and type 1 fiber predoninance in case 2.GFPT1 showed 2 compound heterozygous mutations in patient 1 with p.Y367C and p.G564C,and in patient 2 with p.G26S and p.V291I respectively.Conclusions Childhood onset,fluctuating limb girdle weakness,decrement on low frequency repetitive nerve stimulation,tubular aggregates on muscle pathology could be considered as the diagnostic clues for GFPT1-related limb-girdle congenital myasthenic syndrome.Cholinesterase inhibitors therapy could be used as the first choice in this disease.

Objective To investigate the effect of α-galactosidase A (GLA) gene mutation on cell autophagy and to elucidate its mechanism preliminarily.Methods Two families were diagnosed by ultrastructural pathological examination,GLA gene activity test and GLA gene mutation screening.Mutant type recombinant expression plasmid of two pedigrees (pcDNA3.1-GFP-ex1 (EX1 group),pcDNA3.1-GFP-ex3 (EX3 group)) and wild type recombinant expression plasmid of GLA (pcDNA3.1-GFP-GLA,GLA group) were constructed.Hela cell line (control group) was transiently transfected with recombinant expression plasmid according to lipofectin transfection.The relative gene expression of Beclin-1 was measured with real-time PCR,and protein expression level of LC3-Ⅱ/LC3-Ⅰ,Beclin-1 and P62/SQSTM1 was examined by Western blotting.Results The LC3 protein values of groups EX1,EX3,GLA and control were 1.495 ± 0.064,1.490 ± 0.020,1.285 ± 0.021,1.260 ± 0.042,respectively;P62/ SQSTM1 values were 0.555 ± 0.086,0.480 ± 0.084,0.785 ± 0.439,0.980 ± 0.278,respectively;Beclin-1 mRNA 2-△Ct values were 0.011 ±0.003,0.008 ±0.002,0.005 ±0.001,0.003 ±0.001,respectively;Beclin-1 protein values were 1.178 ±0.098,1.209 ±0.092,0.931 ±0.100,0.796 ±0.184,respectively.Compared with the wide type group,the level of LC3-Ⅱ/LC3-Ⅰ protein was significantly higher in the mutant type groups(t =5.118,4.984;P =0.007,0.008),though no statistically significant difference was found in the expression levels of P62/SQSTM1 (t =1.052,1.400;P =0.323,0.199).Besides,the expression levels of Beclin-1 mRNA (t =3.800,2.445;P =0.005,0.040) and protein (t =2.424,2.729;P =0.042,0.026) were significantly higher in the mutant type groups.Conclusions GLA gene mutation can induce cell autophagic dysfunction,and signaling pathway of autophagic activation may be Beclin-1 dependent.

OBJECTIVE:To describe the prevalence and characteristics of mental disabilities in China.METHODS:The data from the Second National Sample Survey on Disability were analyzed with descriptive epidemiological method and the overall prevalence rates of mental disabilities were statistically calculated.RESULTS:Among 2 526 145 respondents, 15 155 of them more than 15 years old were diagnosed as mental disabilities, with the prevalence rate as 6.01‰. The prevalence rate of disabilities caused only by mental disorders was 4.57‰ with 11 501 more than 15 years old. The prevalence rate of disability caused only by mental disorders was 4.67‰ with 11 501 adults. Of the disability cases that exclusively caused by mental disorders, 64.58% of them were attributable to schizophrenia, schizotypal or delusional disorders, 6.28% were mood disorder, and 6.27% were epilepsy disability, followed by neurotic, stress-related and somatoform disorders (5.95%), dementia (5.19%), and other disabilities (less than 11.74%). Disabilities that attributable to schizophrenia, schizotypal and delusional disorders caused most severe impairments of functions in daily and social activities, followed by disabilities attributable to dementia, non-dementia organic mental disorder and epilepsy disability. Dementia caused the most severe grade of disability, accounted for 44.89% of all the cases. The data also showed that the disabilities attributable to mood disorder and neurotic, stress-related and somatoform disorder showed more impairments among mental disabilities.CONCLUSION:Prevalence of mental disability in the second sample survey was higher than that of the first survey. Schizophrenia accounted for most of the mental disabilities but dementia caused the severest disability among all the cases with mental problems. As two of main causes of mental disabilities, neurosis and anxiety disorders should also be paid attention to.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. It is known that MTHFR deficiency may result in hyperhomocysteinemia, but MTHFR deficiency-induced schizophrenia has been rarely reported. Here we present the clinical course, biochemical and genetic characteristics of schizophrenia resulted from MTHFR deficiency in a school-age boy. He was 13 years old. He was admitted with a two-year history of fear, auditory hallucination, learning difficulty, sleeping problems, irascibility, drowsing and giggling. At admission, he had significantly elevated plasma and urine levels of total homocysteine, significantly decreased levels of folate in serum and cerebrospinal fluid, and a normal blood concentration of methionine. Further DNA sequencing analysis showed 665C>T homozygous mutations in the MTHFR gene. The patient was diagnosed with MTHFR deficiency-associated schizophrenia and treatment with calcium folinate, vitamin B12, vitamin B6, and betaine was initiated. After the treatment for 1 week, his plasma and urine levels of homocysteine were decreased to a normal range and the clinical symptoms were significantly improved. After 3 months of treatment, the patient returned to school. He is now living with normal school life. In summary, children with late-onset MTHFR deficiency and secondary cerebral folate deficiency may lead to schizophrenia. This rare condition can be early diagnosed through analyses of blood and urine total homocysteine, amino acids in blood and folate in blood and cerebral fluid and successfully treated with folinic acid, vitamin B6, vitamin B12 and betaine.

Objective To investigate the occurrence of comorbidity in school-aged children with autism disorder.Methods Sixty-two outpatients in Peking University Institute of Mental Health,aged 6 to 16 years old,meeting the Diagnostic and Statistical Manual of Mental

OBJECTIVE:To investigate mutations in the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients by PCR, denaturing high-performance liquid chromatography (DHPLC) and sequencing to explore the role of mutations in MECP2 in autism patients.METHODS:We recruited DNA samples from 44 male autism patients who matched the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DMS-IV) standards. DHPLC was used to screen the mutations in MECP2 gene, and DNA sequencing was performed for the samples with positive DHPLC results. The family members were further investigated in the patients with missense mutations in MECP2 gene.RESULTS:Four cases were found to have mutations in MECP2 gene, including missense mutations of c.590C>T(T197M)in one case and c.602C>T(A201V)in one case, and synonymous mutations of c.1053C>G in one case and c.897C>T in one case. In addition, we found C>T variation in intron 3 at the +74 bp before exon 4, a SNP (rs2071569) usually detected in Chinese population. In the case with c.602C>T(A201V)mutation, his mother and maternal grandfather had the same mutation. His mother had normal phenotype, but his maternal grandfather had depressive disease.CONCLUSION:Mutations in MECP2 are present in male autism patients with relatively higher prevalence, suggesting that these mutations may play roles in the pathogenesis of autism.

孤独症谱系障碍(autism spectrum disorder,ASD)是根据典型孤独症核心症状扩展定义的一组疾病,既包括典型孤独症,也包括不典型孤独症、Asperger综合征、未特定的广泛性发育障碍(PDD)等.其中以儿童孤独症和Asperger 综合征最常见.其中,睡眠障碍是ASD患儿父母经常报告的问题之一.探讨ASD共患睡眠障碍与其他症状间关系,对充分了解和干预ASD具有重要意义.目前,国外已有部分研究探讨了ASD儿童伴睡眠障碍.本文将对此内容做一综述.