5-羟色胺系统基因多态对注意缺陷多动障碍患儿智商的影响

目的 探讨5-羟色胺(5-HT)系统5-HT2A受体基因(HTR2A)-1438A/G和色氨酸羟化酶基因(TPH1)-6526A/G多态性及其他相关因素对注意缺陷多动障碍(ADHD)智商的影响.方法 根据美国<精神障碍诊断与统计手册>4版(DSM-Ⅳ)中ADHD诊断标准,共入组366例汉族ADHD患儿,采用中国韦氏儿童智力量表(C-WISC)评定ADHD患儿的智商(IQ),应用限制性片断长度多态性检测HTR2A的-1438A/G和TPHI的-6526A/G的多态性,收集家庭一般情况(包括父母亲受教育程度).按照基因型将患儿分为GG、GA和AA 3组,同时按父母的受教育程度(初中及以下,高中、中专和大专,大学本科及以上)将患儿分为3组.结果 HTR2A的-1438A/G的GG、GA和AA 3个基因型组患儿全量表智商(FIQ)和言语智商(VIQ)的差异均有统计学意义(F=5.238 P=0.006)(F=6.052 P=0.003);经两两比较,GG和GA基因型组间的差异有统计学意义[P(FIQ)=0.003,0.042:P(VIQ)=0.001,0.032],GG基因型得分明显高于GA和AA组.TPH1的-6526A/G各基因型组间IQ的差异无统计学意义.按父亲的受教育程度分组时,3组患儿FIQ及VIQ的差异有统计学意义(F=3.664 P=0.027;P=5.261 P=0.006);按母亲的受教育程度分组时,3组患儿FIQ及VIQ的差异有统计学意义(F=4.894 P=0.008;F=5.043 P=0.007).经多因素分析,HTR2A基因型和母亲受教育程度进入回归方程,二者均对患儿的FIQ和VIQ有影响.结论 HTR2A的-1438A/G多态性及母亲的受教育程度与中国汉族ADHD患儿的智商相关.     

单胺氧化酶基因多态性与注意缺陷多动障碍智商的相关性研究

目的探讨单胺氧化酶基因30bp VNTR(MAOA uVNTR)多态性对中国汉族注意缺陷多动障碍(ADHD)患儿智商的影响。方法对1999年9月至2003年10月在北京大学精神卫生研究所门诊就诊、符合美国《精神障碍诊断与统计手册(4版)》(DSM IV)诊断标准的333例中国汉族ADHD患儿使用中国 韦氏儿童智力量表评定智商,并检测MAOA uVNTR多态性。按照基因型将样本分为低活性基因型组和高活性基因型组,比较两组间智商(包括总智商、言语智商、操作智商)差异,并对影响智力的相关因素进行多元线性回归分析。结果单因素分析结果显示,影响ADHD患儿智商的因素有MAOA uVNTR多态性和父亲文化程度,其中低活性基因型组患儿总智商、言语智商和操作智商得分明显高于高活性基因型组,差异均有统计学意义(P值分别为0.006、0.011和0.042)。本科及以上文化程度父母其子女智商最高,高中(中专大专)次之,初中及以下者最低。父亲文化程度对患儿总智商、言语智商及操作智商等的影响差异均有统计学意义(P值分别为0.015、0.048和0.040);母亲文化程度对患儿总智商影响差异有统计学意义(P=0.33)。经多因素分析,只有MAOA uVNTR基因型进入回归方程,对患儿的总智商产生影响(P=0.021)。结论MAOA uVNTR多态性与ADHD患儿智商相关。     

功能性便秘儿童5-羟色胺转运体基因多态性研究

目的探讨5-羟色胺转运体(SERT)基因在儿童功能性便秘(FC)的发病机制中的意义。方法选择2009年7-12月中国医科大学附属盛京医院FC患儿35例(便秘组),对照儿童50名(对照组),对5-羟色胺转运体基因两个多态区5-羟色胺转运体基因多态(5-HTTLPR)、内含子2的可变串联重复区(VNTRs)进行PCR扩增。结果便秘组患儿基因型分布与对照组差异有统计学意义(χ2=10.24,P<0.05);便秘组患儿S/S基因型显著高于对照组(χ2=9.21,P<0.05);便秘组患儿S等位基因频率显著高于对照组(χ2=4.86,P<0.05)。SERT基因内含子2VNTRs多态性位点基因型分布差异无统计学意义(χ2=0.40,P>0.05);SERT基因内含子2VNTRs多态性位点等位基因分布差异无统计学意义(χ2=0.01,P>0.05)。结论 SERT基因5-HTTLPR可能与儿童FC有关,S/S基因型可能是FC的易感基因之一。     

注意缺陷多动障碍患儿Period3基因可变数目串联重复序列多态性分析

目的探讨Period3(Per3)基因18号外显子54 bp可变数目串联重复(VNTR)序列多态性与中国汉族儿童注意缺陷多动障碍(ADHD)伴睡眠障碍的相关性。方法选取2005年8月-2010年5月在本科就诊、符合美国《精神障碍诊断与统计手册(第4版)》诊断标准的166例ADHD患儿为ADHD组,另收集150例健康儿童为对照组。用睡眠障碍量表(SDSC)评分评定儿童睡眠障碍情况,采用PCR技术分析ADHD组患儿与健康对照组儿童Per3基因54 bp-VNTR多态性基因型和等位基因的频率分布。将ADHD患儿根据SDSC量表评分分为有睡眠障碍组和无睡眠障碍组,并比较2组间Per3基因54 bp-VNTR多态性。结果 Per3基因54 bp-VNTR多态性各基因型(Per34/4,Per34/5,Per35/5)及等位基因(Per34,Per35)频率在ADHD组和健康对照组间的分布差异均无统计学意义(Pa>0.05),在伴睡眠障碍组和不伴睡眠障碍组间的分布差异均有统计学意义(Pa<0.05),伴睡眠障碍组携带等位基因Per35明显多于不伴睡眠障碍组(χ2=15.028,P<0.001;OR=2.760,95%CI:1.635～4.658)。结论 Per3基因54 bp-VNTR多态性可能与ADHD的易感性无关,但可能与ADHD伴睡眠障碍有关。     

儿童脓毒症纤溶酶原激活物抑制剂-1基因启动子区4G/5G多态性的研究

目的探讨纤溶酶原激活物抑制剂-1（PAI-1）基因启动子区单核苷酸插入或缺失(4G/5G)多态性与广州地区汉族脓毒症患儿的相关性，对脓毒症的发生、发展和临床预后的影响。方法选取2007 年4～12 月广州市妇女儿童医疗中心诊治的汉族脓毒症患儿为病例组，同期收集健康查体儿童为对照组。应用等位基因特异性扩增多聚酶链(AS PCR)法对病例组和对照组行PAI 1基因启动子区4G/5G多态性检测和分析。采用基因计数法计算各组基因型频率和等位基因频率，χ2检验分析比较两组人群各基因型的分布差异，计算OR值及其95%CI评估各基因型的风险。结果研究期间病例组纳入148例，对照组181名。病例组和对照组PAI 1基因启动子区4G/5G多态性的基因型和等位基因频率分布差异无统计学意义 (χ2=0.79，P>0.05)。 等位基因4G( χ2= 4.35，P<0.05 )及其纯合子( χ2=4.44，P<0.05 )与脓毒症发展相关；携带等位基因4G患儿发展至重症脓毒症的风险比5G 高，OR＝4.05(95%CI:1.09～15.08)， 4G/4G纯合子患儿发展至重症脓毒症的风险比其他基因型高，OR=4.57(95%CI：1.11－18.78)。等位基因4G(χ2=9.17，P<0.05)及其纯合子( χ2=7.35，P<0.05 )与脓毒症病死率相关，携带等位基因4G患儿脓毒症病死风险较5G高,OR=4.30 (95%CI: 1.50～12.29 )，4G/4G纯合子患儿脓毒症病死风险较其他基因型高,OR=3.14( 95%CI:1.49～6.61 )。结论PAI 1基因启动子区4G/5G 多态性与广州地区汉族脓毒症患儿进展及预后相关，等位基因4G及其纯合子是其高危遗传因素；PAI-1 基因启动子区4G/5G点多态性与脓毒症的易感性无关。     

注意缺陷多动障碍与多巴胺-β-羟化酶基因的关联

目的 探讨注意缺陷多动障碍与多巴胺-β-羟化酶(DBH)基因内含子5 Taq Ⅰ酶切位点多态性是否关联.方法 采用聚合酶链反应限制性片段长度多态性(PCR-RFLP)分析技术,检测117例汉族注意缺陷多动障碍患儿及186名正常人群的DBH基因Taq Ⅰ位点的基因型及等位基因.结果 注意缺陷多动障碍患儿与正常对照组Taq Ⅰ位点的3种基因型比较,差异有高度统计学意义(χ2=10.35,P=0.006),等位基因之间比较,差异也有高度统计学意义(χ2=10.60,P=0.001).A1的OR95%CI为0.24～0.70,A2的OR95%CI为1.43～4.17.注意缺陷为主型Taq Ⅰ位点的3种基因型比较(χ2=7.58,P=0.023),等位基因比较(χ2=7.30,P=0.007),差异均有统计学意义.结论 DBH内含子5 Taq Ⅰ A2/A2基因型和A2等位基因,可能有增加注意缺陷多动障碍的患病趋势,是危险因子;A1可能有减少注意缺陷多动障碍的患病趋势,是保护因子.     

注意缺陷多动障碍忠儿COMT基因rs6267多态性分析

目的分析儿茶酚胺氧位甲基转移酶(COMT)基因rs6267多态性位点与注意缺陷多动障碍(ADHD)的关联,寻找ADHD的易感基因。方法采用聚合酶链反应-限制性片段长度多态性技术分析114例ADHD儿童与76例正常对照组的COMT基因rs6267多态性位点频率,并用儿童行为量表(CBCL)评定儿童行为问题。结果 rs6267多态性各基因型及等位基因在ADHD组和正常对照组之间的分布差异无统计学意义(P>0.05)。基因型为G/G的ADHD患儿的思维问题和违纪问题(分别为1.7±1.9,4.5±3.7)明显多于基因型为G/T的患儿(分别为1.0±0.9,2.2±1.4)(P<0.05)。结论 COMT基因rs6267多态性可能不是ADHD的易感因素;rs6267多态性可能与ADHD的某些临床特征有关。     

5-羟色胺、催乳素及皮质醇与血管迷走性晕厥

血管迷走性晕厥(vasovagal syncope,VVS)的发病机制尚不明确。中枢5-羟色胺(serotonin,5-HT)是一种神经递质,由色氨酸合成,储存于囊泡中。5-HT释放后与突触后膜不同的5-HT受体(serotonin receptor,5-HTR)结合,发挥不同的生物效应。参与心血管调节的中枢5-HTR主要包括5-HT1AR、5-HT2AR、5-HT3R、5-HT7R,其中5-HT1AR激活,降低交感神经反射,增高迷走神经反射,引起血压及(或)心率下降;5-HT3R参与Bezold-Jarisch反射。中枢5-HT可通过与5-HT1A、5-HT1B、5-HT2A/2C等受体结合促进催乳素(prolactin,PRL)释放,同时中枢5-HT与5-HT1A、5-HT1B、5-HT2A/2C、5-HT4受体结合促进皮质醇(cortisol,Cor)释放。因此,PRL及Cor水平与中枢5-HT成正相关性。VVS患者在晕厥或晕厥先兆时PRL及Cor浓度显著增高,提示中枢5-HT可能与VVS发病过程有一定的相关性。     

注意缺陷多动障碍患儿COMT基因rs6267多态性分析

目的：分析儿茶酚胺氧位甲基转移酶（COMT）基因 rs6267 多态性位点与注意缺陷多动障碍（ADHD）的关联,寻找ADHD的易感基因。方法：采用聚合酶链反应-限制性片段长度多态性技术分析 114 例ADHD 儿童与 76 例正常对照组的 COMT 基因 rs6267 多态性位点频率,并用儿童行为量表（CBCL）评定儿童行为问题。结果：rs6267 多态性各基因型及等位基因在 ADHD 组和正常对照组之间的分布差异无统计学意义（P＞0.05）。基因型为G/G的ADHD患儿的思维问题和违纪问题（分别为1.7±1.9,4.5±3.7)明显多于基因型为G/T的患儿（分别为1.0±0.9,2.2±1.4）（P＜0.05）。结论：COMT 基因 rs6267 多态性可能不是 ADHD 的易感因素;rs6267 多态性可能与 ADHD 的某些临床特征有关。     

注意缺陷多动障碍与多巴胺-β-羟化酶基因Taq I酶切多态性的关系

目的探讨注意缺陷多动障碍（ADHD）与多巴胺-β羟化酶基因（DBH）第5内含子TaqI酶切多态性的关系。方法依据DSM-IV诊断标准，选取76例ADHD核心家系，采用以家系为基础的遗传统计学方法研究DBH的TaqI等位基因A1、A2和基因型（A1／A2，A2／A2，A1／A1）的分布不同，探讨两者之间有无显著性差异。结果以单体型相对风险的方法分析DBH内含子TaqI等位基因A1、A2传递结果x^2=3．09P〉0．05，基因型比较x^2=3．39P〉0．05。提示DBH多态性与ADHD关联不显著，但有增加ADHD患病趋势。根据传递不平衡检验分析DBH内含子TaqI等位基因A1、A2传递结果P=0．136，提示TaqI的两个等位基因在ADHD患儿的传递中差别不显著，可能A2等位基因有增加ADHD患病的趋势。结论DBH内含子TaqIA2等位基因可能增加注意缺陷多动障碍患病的趋势。     

Dopamine and serotonin transporter genotypes moderate sensitivity to maternal expressed emotion: the case of conduct and emotional problems in attention deficit/hyperactivity disorder

Background:  Mothers' positive emotions expressed about their children with attention deficit/hyperactivity disorder (ADHD) are associated with a reduced likelihood of comorbid conduct problems (CP). We examined whether this association with CP, and one with emotional problems (EMO), is moderated by variants within three genes, previously reported to be associated with ADHD and to moderate the impact of environmental risks on conduct and/or emotional problems; the dopamine transporter gene (SLC6A3/DAT1), the dopamine D4 receptor gene (DRD4) and the serotonin transporter gene (SLC6A4/5HTT).
Methods:  Seven hundred and twenty-eight males between the ages of 5 and 17 with a DSM-IV research diagnosis of combined type ADHD were included in these analyses. Parents and teachers rated children's conduct and emotional problems. Positive maternal expressed emotion (PMEE) was coded by independent observers on comments made during a clinical assessment with the mother based on current or recent medication-free periods.
Results:  Sensitivity to the effects of PMEE on CP was moderated by variants of the DAT1 and 5HTT genes. Only children who did not carry the DAT1 10R/10R or the 5HTT l/l genotypes showed altered levels of CP when exposed to PMEE. The effect was most marked where the child with ADHD had both these genotypes. For EMO, sensitivity to PMEE was found only with those who carried the DAT1 9R/9R. There was no effect of DRD4 on CP or EMO.
Conclusion:  The gene–environment interactions observed suggested that genetic make-up can alter the degree of sensitivity an ADHD patients has to their family environment. Further research should focus on distinguishing general sensitivity genotypes from those conferring risk or protective qualities.     

Perinatal risk factors interacting with catechol O‐methyltransferase and the serotonin transporter gene predict ASD symptoms in children with ADHD

Background: Symptoms of autism spectrum disorder (ASD) and attention‐deficit/hyperactivity disorder (ADHD) often co‐occur. Given the previously found familiality of ASD symptoms in children with ADHD, addressing these symptoms may be useful for genetic association studies, especially for candidate gene findings that have not been consistently replicated for ADHD. Methods: We studied the association of the catechol O‐methyltransferase (COMT) Val158Met polymorphism and the serotonin transporter (SLC6A4/SERT/5‐HTT) 5‐HTTLPR insertion/deletion polymorphism with ASD symptoms in children with ADHD, and whether these polymorphisms would interact with pre‐ and perinatal risk factors, i.e., maternal smoking during pregnancy and low birth weight. Analyses were performed using linear regression in 207 Dutch participants with combined type ADHD of the International Multicenter ADHD Genetics (IMAGE) study, and repeated in an independent ADHD sample (n = 439) selected from the TRracking Adolescents’ Individual Lives Survey (TRAILS). Dependent variables were the total and subscale scores of the Children’s Social Behavior Questionnaire (CSBQ). Results: No significant main effects of COMT Val158Met, 5‐HTTLPR, maternal smoking during pregnancy and low birth weight on ASD symptoms were found. However, the COMT Val/Val genotype interacted with maternal smoking during pregnancy in increasing stereotyped behavior in the IMAGE sample (p = .008); this interaction reached significance in the TRAILS sample after correction for confounders (p = .02). In the IMAGE sample, the 5‐HTTLPR S/S genotype interacted with maternal smoking during pregnancy, increasing problems in social interaction (p = .02), and also interacted with low birth weight, increasing rigid behavior (p = .03). Findings for 5‐HTTLPR in the TRAILS sample were similar, albeit for related CSBQ subscales. Conclusions: These findings suggest gene–environment interaction effects on ASD symptoms in children with ADHD.     

共患破坏性行为障碍的儿童注意缺陷多动障碍与5-HT2C基因多态的相关性研究

目的探讨共患和不共患破坏性行为障碍（DBD）的儿童注意缺陷多动障碍（ADHD）与5-HT2C受体基因（HTR2C）C-759T和G-697C两种多态之间的关联。方法就237个共患DBD的ADHD核心家系和251个不共患DBD的ADHD核心家系的C-759T和G-697C两种多态进行检测,并对各等位基因和单体型进行传递不平衡检验（TDT）。结果在共患DBD的家系中未发现任何等位基因和单体型的传递不平衡现象。在不共患DBD的家系中,-759C（X^2=4．25,P=0．04）优先传递,-697G（X^2=3．21,P=0．07）有优先传递的趋势,就单体型而言,-759C／-697G优先传递（X^2=4．31。P=0．04）。结论ADHD共患DBD与否在HTR2C基因C-759T和G-697C两种多态水平上有明显的遗传差别。HTR2C基因与不共患DBD的ADHD相关联。     

儿童攻击行为与COMT Val158Met及5-HTTLPR基因多态性关联分析

目的：探讨儿茶酚胺氧位甲基转移酶(COMT) 第158位密码子从缬氨酸到蛋氨酸的错义突变(Val158Met)多态性及5-羟色胺转运体（5-HTT）基因启动子区缺失/插入多态性（5-HTTLPR）是否为家庭暴力环境下儿童攻击行为的易感因素。方法：以家庭暴力环境下68例儿童作为研究对象,依据Achenbach儿童行为量表（父母卷）评分,其中24例为攻击行为高分组,44例为低分组。采用聚合酶链式反应 限制性片段长度多态性（PCR-RFLP）技术,检测两组COMT Val158Met和5-HTTLPR多态性,对所得基因型和等位基因频率进行对照和关联分析。结果：攻击行为高分组与低分组COMT Val158Met多态性的各基因型差异(χ2＝1.612,P=0.447)和等位基因频率差异(χ2=1.648,P=0.119)均无统计学意义。两组5-HTTLPR多态性的各基因型差异(χ2=1.807,P=0.405)和等位基因频率差异(χ2=0.403,P=0.527)亦无统计学意义。结论：本研究结果不支持COMT Val158Met和5-HTTLPR基因多态性是儿童攻击行为产生的易感因素。提示儿童攻击行为可能是多因素共同作用的结果。     

Serotonin transporter gene variation in sudden infant death syndrome

AIM: To investigate polymorphisms in the serotonin transporter (5-HTT) gene in cases of sudden infant death syndrome (SIDS) and controls, and further to elucidate a possible relationship between 5-HTT genotypes and external risk factors for SIDS. METHOD: The subjects investigated consist of 163 SIDS cases and 243 controls. Polymorphisms in both the promoter and intron 2 of the 5-HTT gene were investigated, and the genotypes were determined using polymerase chain reaction (PCR) and gel electrophoresis. RESULTS: In the promoter, there was a tendency for the L allele and L/L genotype to be found more often in the SIDS cases than in the controls (p=0.05 and p=0.07, respectively). Regarding the intron 2 polymorphism, there were no differences between the groups, and the SIDS cases were not found to have a higher frequency of either the L/L-12/12 genotype or the L-12 haplotype than the controls. When investigating possible correlations between genotype and risk factors for SIDS, there was a tendency towards different distribution of the promoter genotypes in cases found dead prone compared to cases found dead in other sleeping positions (p=0.06). CONCLUSION: Polymorphisms in the promoter of the 5-HTT gene may be of importance with regard to SIDS.     

学龄期注意缺陷多动障碍共患特定学习障碍儿童智力结构与临床特征分析

目的 探讨注意缺陷多动障碍（ADHD）共患特定学习障碍（SLD）儿童的智力结构及其他临床特征。方法 回顾性选择2018年10月至2019年4月在吉林大学第一医院发育行为儿科门诊明确诊断的学龄期ADHD儿童88例为研究对象,根据有无共患SLD分为单纯ADHD组（n=45）和ADHD共患SLD组（n=43）。分析比较两组患儿的智力结构及其他临床特征。结果 ADHD共患SLD组患儿言语智商（VIQ）、操作智商（PIQ）及总智商（FIQ）得分均显著低于单纯ADHD组（P < 0.05）,VIQ中的常识、类同、算数及背数得分显著低于单纯ADHD组（P < 0.05）,PIQ的填图、排列、积木及拼图得分显著低于单纯ADHD组（P < 0.05）;共患SLD的发生与FIQ、VIQ、PIQ及常识、类同、算数、背数、填图、排列、积木、拼图能力呈显著负相关（P < 0.05）。结论 ADHD共患SLD患儿FIQ、VIQ及PIQ表现差于单纯ADHD患儿,主要表现在大部分智力结构因子能力偏弱。需要进一步关注学龄期ADHD儿童共患SLD的管理与干预。     

Cognitive functioning in affected sibling pairs with ADHD: familial clustering and dopamine genes

Background:  This paper examines familiality and candidate gene associations of cognitive measures as potential endophenotypes in attention-deficit/hyperactivity disorder (ADHD).
Methods:  The sample consists of 540 participants, aged 6 to 18, who were diagnosed with ADHD from 251 families recruited for a larger genetic study of ADHD. All members of the family underwent psychiatric interviews and children were administered a large battery of cognitive tasks. Subjects were genotyped for several dopaminergic candidate genes (DAT1, DRD4, and DRD5).
Results:  Performance on measures of intelligence, working memory, and set-shifting had the highest sibling correlations and exhibited significant familial clustering. The 7-repeat allele of the dopamine receptor D4 (DRD4) gene was associated with poor performance on measures of intelligence, color naming, interference control, and working memory. There were no significant associations with DAT1 and DRD5.
Conclusions:  Sibling correlations, familial clustering and candidate gene associations provide strong support for verbal working memory as a candidate endophenotype for ADHD. More complex models of, and larger sample sizes for, genetic association with cognitive functions are encouraged for future study.     

学龄期注意缺陷多动障碍共患特定学习障碍儿童智力结构与临床特征分析

目的 探讨注意缺陷多动障碍（ADHD）共患特定学习障碍（SLD）儿童的智力结构及其他临床特征。方法 回顾性选择2018年10月至2019年4月在吉林大学第一医院发育行为儿科门诊明确诊断的学龄期ADHD儿童88例为研究对象,根据有无共患SLD分为单纯ADHD组（n=45）和ADHD共患SLD组（n=43）。分析比较两组患儿的智力结构及其他临床特征。结果 ADHD共患SLD组患儿言语智商（VIQ）、操作智商（PIQ）及总智商（FIQ）得分均显著低于单纯ADHD组（P < 0.05）,VIQ中的常识、类同、算数及背数得分显著低于单纯ADHD组（P < 0.05）,PIQ的填图、排列、积木及拼图得分显著低于单纯ADHD组（P < 0.05）;共患SLD的发生与FIQ、VIQ、PIQ及常识、类同、算数、背数、填图、排列、积木、拼图能力呈显著负相关（P < 0.05）。结论 ADHD共患SLD患儿FIQ、VIQ及PIQ表现差于单纯ADHD患儿,主要表现在大部分智力结构因子能力偏弱。需要进一步关注学龄期ADHD儿童共患SLD的管理与干预。     

Serotonin and 5-hydroxy indole acetic acid in infantile hydrocephalus

The concentration of metabolites of neurohormones in cerebrospinal fluid (CSF) is an index of turnover of substances in brain parenchyma. The raised intracranial pressure in hydrocephalic children may cause alteration in the metabolism of neurohormones. Serotonin and its metabolite 5-HIAA have been studied extensively in CSF of patients with neuropsychiatric diseases. Hence we studied the neurohormones serotonin and its end product 5-hydroxy indole acetic acid (5-HIAA) in CSF of hydrocephalus infants before and after ventriculoperitoneal (VP) shunt. Ventricular CSF samples form 50 hydrocephalic infants were obtained serially at the time of shunt insertion, and then on day 8 and day 30 postoperatively by direct puncture from shunt chamber using 26G needles. Control CSF samples were taken from otherwise healthy children operated under spinal anesthesia. The samples were analyzed for serotonin and 5-HIAA by spectrofluorophotometric method. At the time of shunt insertion, serotonin was significantly decreased (P < 0.05) while 5-HIAA was significantly increased (P < 0.001) in hydrocephalic infants. On day 8 and day 30 values of serotonin and 5-HIAA approached the baseline values. In patients who developed VP shunt blockade there was again a rise in levels of 5-HIAA. However, no correlation could be established between the levels of serotonin, 5-HIAA and the duration of hydrocephalus and the type of hydrocephalus. Our study shows increased 5-HIAA concentration in CSF indicating increased turnover of serotonin to its metabolite due to pressure changes in hydrocephalus. Long-term follow-up is required to assess if they could be of prognostic significance as regards to long term attainment of brain functions in hydrocephalic children.