一例X连锁精神发育迟滞患儿的 IQSEC2基因变异分析

目的:分析一例 IQSEC2基因变异引起X连锁精神发育迟滞患儿的临床表型和基因变异情况,为该病的诊断提供参考。 方法:运用靶向捕获二代测序技术(next generation sequencing,NGS)检测患儿基因变异情况,结合临床特点进行诊断。结果:患者表现为全面发育迟缓,其中精细运动发育落...     

二代测序技术确诊一例X连锁精神发育迟滞患儿CSCD

目的对1例不明原因发育落后的患儿进行临床和遗传学分析。方法对患儿进行临床检查,提取患儿及其父母基因组DNA,用二代测序技术对患儿基因组DNA进行测序分析,并对疑似致病性突变进行患儿及其父母的Sanger测序法验证,并进行生物信息学预测。结果患儿精神发育迟滞,基因测序显示患儿GRIA3基因的第2外显子存在c.455T〉C （p.L152P）错义突变,遗传自母亲。生物信息学预测为致病性突变。结论患儿诊断为GRIA3基因突变所致X连锁精神发育迟滞。     

原因不明精神发育迟滞病因的群体研究

报告应用遗传流行病学和现代统计分析方法，根据“四川省遗传病流行病学调查研究”提供的资料，对原因不明精神发育迟滞从群体水平进行的关系病因学研究。内容包括：发病频率分布，发病长期趋势和周期性，影响发病的主要危险因素，遗传度及遗传方式等。     

328例非特异性精神发育迟滞的隐性基因分析

采用分离分析和血缘分析方法，对山东省遗传病调查中发现的３２８个父母双方均正常的中、重度非特异性精神发育迟滞（ＮＳＭＲ）家系进行了分析。结果表明，多发家庭先证者的平均近婚系数显著高于一般群体，分离比接近０．２５。提示隐性基因在中、重度ＮＳＭＲ发生中起一定作用。在重度ＮＳＭＲ，散发病例占４０．７％，Ｘ连锁隐性遗传占９．１２％，常染色体隐性遗传占５０．１８％。常染色体隐性基因位点数的最小估计值为２４，各位点的平均基因频率为０．００３５，携带者总频率为１７．５４％；在中度ＮＳＭＲ，散发病例占６１．５％，Ｘ连锁隐性遗传占１１．５３％，常染色体隐性遗传占２６．９７％，常染色体隐性基因位点数的最小估计值为１３２，各位点的平均基因频率为０．００２１，携带者总额率为５４．９５％。     

非特异性精神发育迟滞的遗传异质性

目的　探讨非特异性精神发育迟滞 (non- specific mental retardation,NSMR)的遗传方式。方法　采用分离分析法、Finney法和 Falconer法 ,对山东省遗传病群体调查中筛选出的 15 7个 NSMR家系进行了研究。结果　 U×U多发家庭接受常染色体隐性遗传 ;U× U总体属于常染色体隐性遗传 ,同时还有多基因的主基因效应 ,散发病例为 46 % ;U× A符合常染色体显性遗传 ,不完全外显。结论　 NSMR的遗传方式具有遗传异质性     

非特异型精神发育迟滞患者的染色体脆性位点研究

为了解精神发育迟滞患者染色体的稳定性及与临床的关系,采用低叶酸TC199培养诱导法,对300名非特异型精神发育迟滞患者作染色体脆性位点表达检测和断裂点细胞频率统计。结果普通型脆性位点表达23例(7.7%),遗传型脆性位点表达31例(10.3%),染色体断裂或裂隙的细胞频率10.8%,与正常对照组相比较,差异均有显著性,本文认为这类患者较高的脆性位点阳性表率和断裂点细胞频率,是其染色体不稳定性的表现之一。     

精神发育迟滞儿童心理干预研究

根据精神医学、心理学、残疾人教育学原理，在弱智儿童特殊教育中采取一系列心理治疗和心理训练手段，包括手、眼、舌为重点的灵巧性训练，是矫正生理缺陷、提高智商的重要方法之一。1对象与方法1．1对象乌鲁木齐市第十二小学弱智班21名学龄儿童，男性11名、女性10名；年龄最大12岁，最小8岁，平均10岁；智商最高71，最低20，平均46．9；有语言障碍12人，有顽固不良习惯3人，性格怪解2人，患多动症4人。1．2研究内容1．2．l从1988～1997年，对ZI名弱智儿童每年进行一次智力测验，采用林传鼎修订的韦氏儿童智力测验表。1．2．2心理干预内容…     

常德地区193例精神发育迟滞调查分析

目的了解精神发育迟滞与智力残疾情况.方法对近3年精神发育迟滞所致的智力残疾鉴定病例进行调查分析.结果精神发育迟滞患者男性比女性多,性别差异具显著性;轻、中度智力残疾性别差异无显著性,重度智力残疾性别差异具显著性.患者97.9%自幼起病,80.3%是文盲,70.7%未婚,1.0%在业.结论精神发育迟滞因其终生性、危害性、病因复杂性,其预防非常重要,应作为精神遗传病预防的重中之重.     

精神发育迟滞患儿的细胞遗传学研究

精神发育迟滞患儿的细胞遗传学研究卢洁，周容，董增义，谷仁凯，魏书珍，邹巧云，徐贤秋精神发育迟滞（ｍｅｎｔａｌｒｅｔａｒｄａｔｉｏｎ，ＭＲ）是严重危害小儿健康的一类疾病。人群中ＭＲ的发病率约１％～３％［１］、其病因十分复杂，如染色体病，单基因遗传病，多...     

原因不明的精神发育迟滞胎次效应

为研究原因不明的精神发育迟滞患者的胎次效应，对首次发病住院的原因不明的精神发育迟滞患者的胎次进行调查，分析采用单因素分析与Ｈａｌｅａｎｅ和Ｓｍｉｔｈ法进行分析，发现７４．８５％的患者胎次为二胎以上Ｈａｌｅｎａｅ和Ｓｍｉｔｈ法分析Ｃ值为９．３１，提示精神发育迟滞的发生与胎次显著相关，胎次高者发生精神发育迟滞的风险较大。     

PREVALENCE OF THE FRAGILE X SYNDROME IN YUGOSLAV PATIENTS WITH NON-SPECIFIC MENTAL RETARDATION

Mutations at two fragile sites, FRAXAand FRAXE, loci are caused by an expansion of a CGG/GCC trinucleotide repeat and are characterized by mental retardation. Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXAin two boys and none positive for the FRAXEmutation. In addition, we studied allelic frequency distribution for the FRAXAlocus in this group of mentally retarded patients, as well as in the 99 healthy subjects of Yugoslav population. The distribution of FMR1CGG repeat size in both groups was similar: the most common allele contained 29 repeats (32.86% in the healthy population and 54.54% in MR population), followed by the allele with 28 CGG repeats (21.43% in the healthy and 12.2% in MR population). Premutation alleles with more than 45 repeats were not found in control nor in the MR group.     

THE CONTINUITY OF PSYCHOTIC EXPERIENCES IN THE GENERAL POPULATION

Schizophrenia is a severe mental illness that affects 1% of the population. The diagnosis is made according to current diagnostic systems of DSM-IV (American Psychiatric Association, 1994) and ICD-10 (World Health Association, 1992) on the basis of characteristic 'positive' and 'negative' symptoms. The traditional medical model assumes a categorical view of the schizophrenia syndrome and its core symptoms, in which differences between psychotic symptoms and their normal counterparts are considered to be qualitative. An alternative, dimensional approach assumes that schizophrenia is not a discrete illness entity, but that psychotic symptoms differ in quantitative ways from normal experiences and behaviours. This paper reviews evidence for the continuity of psychotic symptoms with normal experiences, focusing on the symptoms of hallucinations and delusions. It concludes by discussing the theoretical and treatment implications of such a continuum.     

THE CONTROL OF ELECTROENCEPHALOGRAPHIC ALPHA RHYTHMS THROUGH AUDITORY FEEDBACK AND THE ASSOCIATED MENTAL ACTIVITY

Twenty-six subjects were given baseline tests for electroencephalographic (EEG) alpha rhythm presence, and then a period of fifteen minutes to gain insight into mental activity associated with alpha presence and absence, while provided with an auditory feedback loop keyed to the presence of alpha. Sixteen of the subjects worked with eyes closed, and ten, with very high initial alpha baseline scores, worked with eyes open. After the fifteen minute practice period permitting control of alpha through feedback, the subjects were given a trial during which they attempted to produce as much alpha as possible and a trial in which they tried to produce as little as possible. The results indicated significant appropriate change for both the generation and suppression trials. Those who were able to control alpha spontaneously reported mental states reflecting relaxation, “letting go,” and pleasant affect associated with maintaining alpha.