二代测序技术在Cardio-facio-cutaneous综合征诊断中的应用研究

目的 探讨二代测序技术在辅助诊断RAS心肌病群的作用.方法 提取1例疑似Noonan综合征患儿及其父母外周血,采用aCGH、二代测序技术检测基因突变,并用Sanger法进行验证.结果 二代测序结果显示,患儿BRAF基因存在c. 1406G>A杂合突变.患儿一代测序结果与二代测序结果一致,父母一代测序结果显示该位点均为G/G野生型.结论 该患儿为CFC患者,二代测序技术在RAS心肌病群的鉴别诊断中可以起到很好的辅助作用.     

Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers

Sixty nine parents of boys suffering from Duchenne muscular dystrophy were interviewed at home. The interview explored the parents' experiences at the time of their son's diagnosis. Many families had experienced distressing delays (average 2.5 years) between the time they first became aware of symptoms and the time of the diagnosis. On only 18 occasions were both parents told of the diagnosis together. One third of the parents were "not satisfied" with the way the diagnosis had been communicated. Parents want to know as soon as possible if there is something wrong with their child. They should be told the diagnosis together and in private. Full information should be given and a series of contacts should be arranged.     

Integrating Computerized Primitives and Annotated Video Patterns: A Proposed Model for Autism Diagnosis and Research

The use of computerized, digital video as a means for interactive data capture has been suggested as an alternative to direct observation of behavior. The appeal of observational measures is that they are presumed to be less vulnerable to potential biases from informants, such as parents or teachers, and permit more individualized assessment that may be lost with the use of rating scales. As a potential tool for long-term, automated observation and analysis. In this technology review we propose one promising model for the integration of computerized primitives recognition and annotated video patterns as an approach to large-scale autism diagnosis and research.     

儿童行为问题与家庭教育关系的分析

采用Ｃｏｎｎｅｒ＇ｓ问卷对武汉市３─１１岁４９８名儿童的父母进行了儿童行为问题及父母教育子女的态度、方式等方面调查，结果表明：１．父母教育子女的方式、态度及与子女间的关系存在一定的问题，父母经常对子女发脾气者占５８．６％；父母对子女要求不一致占５４．２％；娇宠子女占５１．６％；采取粗暴方式管教子女占５１．４％；对子女求全责备占４５．０％。２．以儿童品行问题、学习问题、冲动─多动、多动指数为因变量的多元逐步回归分析结果表明，均有５项以上的家庭教育因素被选入逐步回归方程，说明儿童行为问题与家庭教育子女的方式、方法、态度有密切的关系。     

父母教养方式对幼儿行为及情绪的影响

目的了解幼儿父母教养方式现状及其对幼儿行为及情绪发展的影响，为促进幼儿行为和情绪健康发展提供科学依据。方法在中国14个大中城市采用整群随机抽样的方法，抽取1741名主要照顾人为父母的24～36月龄幼儿为研究对象，采用统一问卷对受试幼儿父母教养方式进行现场调查，用SPSS统计软件包对调查结果进行统计学分析。结果1741名幼儿中，父母分别采取接纳、拒绝、鼓励成功等教养方式得分差异具显著性；多因素非条件logistic回归分析显示父母分别采用拒绝、过渡关注及保护、惩罚等教育方式，对中国幼儿行为及情绪发展问题影响差异具有显著性。结论加强父母文化素质，改善其不良教育方式，对幼儿情绪等心理健康发展具有重要意义。     

尿道下裂修补术后产生幻觉

作报道了1例4岁男孩在接受尿道下裂修补术后出现幻觉的病例。其在门诊外科被诊为中枢抗胆碱能综合征，随即在当天早晨送人急诊科。经追问病史，作认为是奥昔布宁过量所致，并就药品管理方面的问题，指出了医生指导患父母和看护人进行服药指导的重要性。     

Counselling about Down's syndrome: the parents' viewpoint.

The parents of 50 children with Down's syndrome were interviewed to find what sort of information they were given at the time of diagnosis and what arrangements were made for the child's future. Particular emphasis was placed upon the method and timing of giving the parents the diagnosis, the utilization of community resources to help the family and what information they would have liked to have been given in retrospect. The ages of the children ranged between three months and eight years at the time of the survey. Seventy-two per cent of parents were given the diagnosis during the first week, with an increasing proportion being dissatisfied with the timing the longer the delay in telling what was wrong with the child. The mother has been told first in 48% of cases, and both parents have been told together in only 20% of cases. Fifty-four per cent of parents were encouraged to take the baby home, 22% were encouraged to place the baby in an institution, while in 28% of cases the decision was left to them. Forty-six per cent of patients felt that an overly-pessimistic outlook had been given by the doctor. Eighty-four per cent had medical follow-up, community follow-up, or literature supplied, whereas 16% had no such arrangements made. The parents' own suggestions for better management were sought. The two most outstanding were to be placed in early contact with community facilities and to be given a chance to meet other parents of children with Down's syndrome.     

DNAH5基因新发突变致原发性纤毛运动障碍1例

目的 探讨DNAH5基因突变所致原发性纤毛运动障碍(PCD)的临床特点、诊治方法,以提高对该病的认识。方法 回顾性分析山东大学齐鲁医院(青岛)收治的1例儿童PCD患者的临床资料,包括主要症状、化验检查、影像学表现、基因检测、透射电镜(TEM)检查结果及诊疗过程。结果 该患儿有新生儿期呼吸窘迫、婴儿期开始出现的反复咳嗽咳痰、支气管扩张及慢性鼻窦炎等PCD特征性表现,支气管黏膜TEM检查未见纤毛结构,全外显子测序提示DNAH5基因存在致病性复合杂合变异,PCD诊断明确。急性期给予抗感染及气道廓清治疗,并定期随访。结论 PCD临床表现多样,缺乏单一的特异性诊断方法,对可疑的患者需综合分析高速摄像显微分析、免疫荧光分析、TEM以及基因检测等多种检查结果,进一步确定诊断。目前PCD尚无治愈方法,治疗目的主要为延缓疾病进展。     

Parental reactions to febrile seizures in Malaysian children

The reactions of 117 parents to the febrile seizure experienced by their children; and their fears and worries were investigated. A standard questionnaire was used and clinical information was abstracted from the notes. In 88.9% of the cases, the adult present at the seizure was one of the parents usually the mother. Most of the parents (66.7%) did tepid sponging to bring the fever down but a third tried to open the clenched teeth of the child. The adults present placed the child supine in 62.9%, on the side in 9.5% and prone in 6.0%. Over half of the parents brought the child to a private clinic first before bringing to hospital. A fifth of the children were given antipyretics by the parent or the doctor and an anticonvulsant was given in 7.7% of cases. Interestingly, in 12% of children traditional treatment was given for the seizure. Three quarters of the parents knew that the febrile seizure was caused by high fever (which we have taken as the correct knowledge of febrile seizure). However "ghosts" and "spirits" were blamed as the cause of the seizure by 7% of parents. Factors significantly associated with correct knowledge were higher parental education and higher family income. The most common fear expressed was that the child might be dead or might die from the seizure (70.9%). Fear of death was associated with low paternal education. We concluded that the majority of our parents had reacted appropriately to a febrile seizure and their knowledge of the cause of febrile seizure was generally correct. Their fears and worries were similar to those elsewhere. However, traditional beliefs and practices may have to be taken into consideration during counselling.     

小学生父母对子女情感虐待及其影响因素研究

目的 了解小学生父母近1年来对子女精神虐待的发生情况及其影响因素。方法 于2005年7月，用自填式问卷对阜新市某小学以班级为单位整群抽取185名小学生家长，就有关对子女虐待行为进行不记名调查。结果 在被调查的185名小学生父母中，在最近1年里，有57人（30．8％）曾对子女进行过1项或以上下列形式的情感虐待：在他人面前进行羞辱（25人，13．5％）、说希望其不存在（13人，7．0％）、威胁要将其赶出家门（26人，14．1％）、在家里目睹过家人的严重殴打（20人，10．8％）、威胁要严重伤害他（12人，6．5％）。童年期有被家长或／和老师当众羞辱经历的父母亲，对子女进行情感虐待行为的相对危险性是无此经历父母的2．9倍。父母对子女情感虐待行为与子女性别、家长受教育程度、家长性别及年龄无明显关联（P〉0．05）。结论 小学生家长对儿童精神虐待问题较为普遍，童年期曾受父母或／和老师情感虐待是导致家长对儿童情感虐待的危险因素。     

The favoured child?

This case conference concerns a child who has been in care following a diagnosis of emotional abuse and a serious incident of physical abuse. She wants to return home again, and her parents, who had previously scapegoated her, now blame the family''s previous ills on her sister instead. The Children Act 1989 gives considerable weight to the child''s wishes, but what if the child returns home and is re-abused? In this case conference a child psychiatrist, a philosopher and a lawyer discuss the issues of clinicians'' responsibilities, moral luck, and child care law.     

Genetic screening in Western Australia.

The wider application of genetic screening is described in four Western Australian populations. Counselling with prenatal diagnosis of Down's syndrome was offered to 57 women over the age of 35 years and less than 16 weeks' gestation who attended an antenatal outpatients department. Forty-four women consented to amniocentesis and two affected fetuses were found. Both public and private patients can be screened to detect fetuses with Down's syndrome. In a population of 200 pregnant girls whose infants were intended for adoption, a specially designed family history form aided identification of genetic disorders in 32 families. Counselling was offered to the biological parents, to the adoptive parents, and, prospectively, to the child in later years. The effectiveness of the family history as a screening device is illustrated in this adoption sample. Counselling of parents of 20 decreased malformed infants initiated the genetic counselling clinic in Western Australia and led to subsequent referral of 92 similar cases by the family doctors. It was found that parents who gave birth to malformed infants welcome information and risk figures. Diagnostic screening in a population of 6000 intellectually handicapped individuals yielded 1372 cases (23%) with Mendelian, multifactorial, or chromosomal modes of inheritance. This screening enabled patients with inherited causes for their intellectual handicap to be identified and placed on a register for health planning.     

α和β地中海贫血的羊水产前基因诊断

目的研究单管多重PCR体系检测缺失型α-地中海贫血及反向点杂交法检测β-地中海贫血在产前诊断中的应用价值。方法应用单管多重PCR体系产前检测37例父母均为α-地中海贫血杂合子的风险胎儿的羊水地贫基因及应用反向点杂交法产前检测18例父母均为β-地中海贫血杂合子的风险胎儿的羊水地贫基因。结果37例α-地中海贫血风险胎儿中检出Hb Bart纯合子7例,左缺失型H病3例,右缺失型H病2例。18例β-地中海贫血的风险胎儿检出2例IVS-nt 654/CD41-42双重杂合子,1例IVS-nt 654纯合子。结论应用单管多重PCR体系及反向点杂交法进行α和β地中海贫血产前羊水基因检测,能快速、准确作出诊断,从而预防重症患儿的出生,达到优生目的。     

Familial aggregation of blood pressure in 558 adopted children.

Blood pressure was measured in each member of 398 French-Canadian families with at least one adopted child of the same ethnic origin. Measurements were made at home by a nurse, usually with the subject seated. One comparison per family between parents and randomly chosen index children was made, using age- and sex-adjusted scores. The correlation in blood pressure scores between parents and natural children was highly significant (P less than 0.001), at 10.2% for systolic and 13.7% for diastolic in 140 homes with at least one natural child, but the correlation between parents and adopted children was nonsignificant, at 0.81% and 1.0%, in 398 homes with at least one adopted child. The correlation between pairs of natural children was significant (P less than 0.05), at 7.84% for systolic and 8.41% for diastolic, in 80 homes with more than one natural child but nonsignificant, at 0.49% and 1.69%, respectively, for pairs of adopted children in 138 families with more than one adopted child. It is concluded that heredity explains most of the familial resemblance of blood pressure in children.     

HIV Disclosure: Parental dilemma in informing HIV infected Children about their HIV Status in Malawi

Background

Increasingly many perinatally HIV-infected children are surviving through adolescence and adulthood as a result of improvements in the management of paediatric HIV infection, particularly the increased use of combination therapy. It is usually the parents or guardians of these children who are faced with the task of informing the child living with HIV about his or her positive status. However, many parents—particularly biological parents —find this disclosure process difficult to initiate, and this study explored some of the difficulties that these parents encounter.

Objective

This study set out to explore potential factors that challenge parents and guardians when informing their perinatally HIV-infected child about the child''s HIV status.

Design

This was a qualitative narrative study that employed in-depth interviews with parents or guardians of children perinatally infected with HIV. A total of 20 parents and guardians of children who attend the outpatient HIV clinic at the Baylor College of Medicine-Abbott Fund Children''s Clinical Centre of Excellence (COE) in Lilongwe, Malawi were interviewed. Of these, 14 were biological parents and six were guardians.

Results

Guardians and parents expressed uneasiness and apprehension with the disclosure conversation, whether or not they had already told their child that he or she had HIV. Participants who had not told their children recounted that they had contemplated starting the conversation but could not gather enough courage to follow through with those thoughts. They cited the fear of robbing their child of the happiness of living without the knowledge of being positive, fear of making their own status known to more people, and fear of confrontation or creating enmity with their child as impediments to disclosing their child''s positive HIV status to him or her.

Conclusions

It is apparent that guardians—more particularly biological parents—of children perinatally infected by HIV find it difficult to inform their children about their children''s HIV status. From this disempowered position, parents dread the disclosure of a positive HIV status to a child as a psychosocial process that has the potential to disturb a family''s previously established equilibrium with threats of stigmatization, marginalization, and parent-child conflict. This calls for strategies that could support parents to make disclosure to the child less challenging.     

从父母的认识看儿童肥胖防治的重要性

目的：研究不同地区华人学龄前儿童父母对儿童肥胖的认识并分析其影响因素,为临床医生开展儿童肥胖的针对性防治提供依据。方法在北京、高雄和旧金山分别选取47名、25名和28名3~5岁儿童及其家长进行研究。采用国际肥胖工作组体重指数标准作为儿童超重/肥胖的判定标准。测量儿童的身高体重,并由家长填写家庭饮食和运动习惯调查问卷、儿童喂养量表、儿童体型图表和人口学调查问卷。结果儿童的平均年龄为4.43岁,超重/肥胖比例为19.0%。超重/肥胖儿童中仅26.3%的家长认为自己的孩子超重。家长对儿童体重的担忧程度与食物限制、对儿童体重的认识、食物监测和儿童的体育活动水平有关（R2=0.59,P=0.001）。结论家长对儿童肥胖的认识不准确,且对儿童体重的担忧程度与不健康的喂养行为有关。医生应关注对儿童家长的健康教育,帮助他们正确认识儿童体重,并指导他们采取科学正确的喂养方法,以提高防治措施的依从性,改善治疗效果。     

Parental response and understanding towards febrile convulsion

A questionnaire survey was conducted on parents of 58 patients admitted with febrile convulsion (FC) over a 4 month period to the University of Malaya Medical Centre, Kuala Lumpur to determine parental response towards febrile convulsion in their child and their understanding of home management of FC. RESULTS: The majority of parents (93%) were frightened or were in a panic state on witnessing FC in their child. Most (77.6%) of them were able to bring their child to medical attention within 30 minutes, with delays attributed to transport problems. Parental understanding on FC was deficient, particularly with regard to home management of acute seizures. The parents' main source of information was friends and relatives. CONCLUSIONS: Urgent intervention to counsel and allay fears of parents who have just witnessed an acute FC in their child is required. More effort must be made to educate parents about FC, with particular reference to home management of seizures.     

Counselling the parents of handicapped children

The parents of handicapped children have to adjust to a wide variety of emotional and psychological problems when first confronted with the failure of their reproductive expectations. Counselling is a formal procedure or transaction in which both counsellor and parents aim to find a mutually acceptable plan of adjustment. Parents may need support to cope with their own personal inadequacies as well as with their own personal inadequacies as well as with the needs of the child. Counselling should be a continuous process, in which the parents can learn to accept the child as a different rather than a lesser person.     

The ethics of using genetic engineering for sex selection

It is quite likely that parents will soon be able to use genetic engineering to select the sex of their child by directly manipulating the sex of an embryo. Some might think that this method would be a more ethical method of sex selection than present technologies such as preimplantation genetic diagnosis (PGD) because, unlike PGD, it does not need to create and destroy "wrong gendered" embryos. This paper argues that those who object to present technologies on the grounds that the embryo is a person are unlikely to be persuaded by this proposal, though for different reasons.     

手足口病患儿家长知识、态度及行为特征的分析

目的研究手足口病患儿家长对手足口病知识、态度及行为的特征。方法对诊断明确的手足口病患儿680例中的940位家长,进行问卷调查。结果患儿家长对手足口病具有传染性知晓率最高占77．66％,疱疹不会留有瘢痕或色素沉着的知晓率最低占43．62％,对手足口病的态度不惊慌的家长只占52．02％,发病后及时就诊者可达65．11％,做到与其他孩子隔离者仅52．87％,做到经常给儿童洗手的家长较多达71．28％,而定时给儿童的玩具、餐具消毒的家长较少仅25．53％。不同年龄手足口病患儿家长知识、态度及行为特征得分不同,25—30岁组得分最高,而35岁以上组得分最低,差异有统计学意义（P〈0．01）。文化程度对手足口病患儿家长知识、态度及行为特征得分影响也较大,大学以上及大学文化程度的得分显著大于初中、高中文化程度者,差异有统计学意义（P〈0．01）。结论手足口病患儿家长手足口病知识的掌握不全面,采取的预防措施尚需改进和提高,电视宣传对对广大患儿家长手足口病知识的掌握具有重要意义。