语言发育迟缓儿童的发育水平和临床特征分析

目的 了解儿童语言发育迟缓的临床特征及发育水平,为早期诊断和干预提供科学依据.方法 选取2017-2018年首都医科大学附属北京儿童医院儿童保健中心因语言发育迟缓而就诊的患儿100例,采集病史,进行体格检查、实验室检查、头颅MRI、发育评估、心理行为量表评分、行为观察等.结果 100例患儿中,男童占88.0％;头颅MRI和代谢病筛查异常比例分别为50.0％和13.9％;Gesell发育诊断量表结果显示,轻度发育迟缓占53.1％;93.1％的患儿孤独症筛查量表结果异常.结论 应重视儿童语言发育迟缓的早期识别和早期诊断,定期监测,及早干预,以促进康复.     

孤独症谱系障碍与特发性语言障碍儿童发育情况分析

目的 探讨伴有语言障碍的孤独症谱系障碍(ASD)儿童与特发性语言障碍(SLI)儿童发育水平的差异及语言发展进程的特点,为早期诊断、早期干预及提供科学的个性化的干预措施提供依据。方法 从2018年1月—2019年12月在苏州大学附属儿童医院儿童保健科因语言迟缓就诊的儿童中选择年龄在24～48个月之间,经过一系列检查最终确诊为ASD儿童293例及SLI儿童261例,对这些患儿进一步应用0～6岁儿童神经心理发育量表及语言发展进程量表进行评估。结果 ASD组和SLI组在粗大运动、精细动作、适应能力、语言能力及个人-社会能力方面均有差异,差异有统计学意义(P <0.001)。ASD组在语言表达能力、听觉感受和理解能力、与视觉相关的理解和表达能力3个方面得分均低于SLI组,差异有统计学意义(P <0.001)。结论 ASD儿童与SLI儿童相比各能区发育水平均有落后,临床过程中对语言发育迟缓儿童应增加语言理解及表达能力的评估,这样更有利于制定出个性化的康复方案进而针对性的干预。     

探讨0-6岁儿童语言发育迟缓相关影响因素

目的研究语言发育迟缓儿童相关影响因素,为临床早期发现、综合干预提供科学依据。方法对2016.6-2018.6河北省承德医学院附属医院儿保门诊就诊的6岁以下儿童应用Gesell发育量表进行语言发育评估,选取语言发育迟缓儿童为研究对象,通过问卷调查收集资料,进行统计分析,评估儿童语言发育迟缓的相关危险因素。结果宫内生长发育迟缓、早产、育儿方式、主要抚养人、家庭内语言种类为儿童语言发育迟缓的独立危险因素。结论做好孕期保健,提倡优生优育,儿保医生及儿童照料者及时认识到语言发育的有利及不利因素,早期发现、早期干预,以促进儿童的语言发育。     

婴幼儿语言发育迟缓的发育水平分析

目的 探讨婴幼儿语言发育迟缓的发育特征,为早期诊断和干预提供依据。方法 对108例语言发育迟缓婴幼儿临床诊断分类,并采用0－6岁婴幼儿发育诊断量表进行发育评估。结果 发育性发音障碍和口吃平均发育商正常;特殊性语言发育障碍在语言和社交行为两能区发育商均有下降,且前者较后者下降明显。儿童孤独症和精神发育迟滞平均发育商下降最明显,孤独症在各能区发育商不平衡。结论 语言发育迟缓的婴幼儿其平均发育商和各能区发育商不尽相同,应引起重视。     

婴幼儿语言发育迟缓108例发育水平分析

目的 探讨婴幼儿语言发育迟缓的发育特征,为早期诊断和干预提供依据.方法 对108例语言发育迟缓婴幼儿临床诊断分类,并采用0～6岁婴幼儿发育诊断量表进行发育评估.结果 发育性发音障碍和口吃平均发育商正常;特殊性语言发育障碍在语言和社交行为两能区发育商均有下降,且前者较后者下降明显.儿童孤独症和精神发育迟滞平均发育商下降最明显,孤独症在各能区发育商不平衡.结论 语言发育迟缓的婴幼儿其平均发育商和各能区发育商不尽相同,应引起重视.     

孤独症谱系障碍儿童智力水平特点

目的了解孤独症谱系障碍(ASD)儿童的智力结构特点。方法 2017年1月至2019年1月在我院诊断18～36月龄ASD患儿120例,以及同期因语言问题就诊儿童206例;正常体检儿童258例,三组均做GESELL智力评估。结果 ASD儿童的智力水平成全面下降,与语言发育迟缓组及正常儿童组有显著性差异。ASD儿童的智力结构明显异常,语言、适应性、个人—社交能区明显落后,与运动能区差异有统计学意义。结论 ASD患儿发育商明显低于正常及语言发育迟缓儿童,且不同能区存在较大的发育差异,智力评估在ASD早期诊断中做为辅助手段帮助儿保医生实现对ASD的早期识别或转诊。     

200例儿童矮小症病因分析

目的：分析儿童矮小症病因、治疗及与年龄相关性。方法收集2012－03～2014－02间我院儿科门诊收治200例矮小症儿童临床资料行回顾性分析,分析患儿的一般临床资料、诊断及相关检查,将所得数据进行统计分析,分析出儿童矮小症病因及其与年龄相关性。结果生长激素缺乏症、生长激素神经分泌障碍、甲状腺功能减退、宫内发育迟缓、特发性矮小、性早熟、营养缺乏为儿童矮小症常见病因。其中生长激素缺乏症、生长激素神经分泌障碍、特发性矮小、性早熟＞7岁儿童发生率明显高于≤7岁患儿,差异有统计学意义（ P＜0．05）,营养缺乏、Tumerg综合征、21－三体综合征≤7岁患儿发病率明显高于＞7岁患儿,差异有统计学意义（ P＜0．05）。结论临床中致儿童矮小症病因较多,常见有生长激素缺乏症、生长激素神经分泌障碍、甲状腺功能减退、宫内发育迟缓、特发性矮小、性早熟、营养缺乏等,临床早期诊断并干预可促进患儿生长,改善患儿预后。     

早期康复护理干预在语言发育迟缓儿童中的应用观察

目的探讨早期康复护理干预在语言发育迟缓儿童中的应用价值。方法本研究选取我院儿科2018年1月至12月收治100例语言发育迟缓儿童的临床资料进行统计分析,按照不同护理方案分为对照组和实验组,对照组采取常规护理,实验组采取早期康复护理干预,比较两组护理效果。结果实验组患者护理后社交行为、语言等生长发育情况均明显优于对照组,两组差异对比存在统计学意义(P0.05)。结论针对语言发育迟缓儿童实施早期康复护理干预,有助于其语言和社交行为能力的提升,因而推广及应用价值较高。     

神经节苷脂治疗儿童运动发育迟缓的疗效分析

目的 探究神经节苷脂治疗儿童运动发育迟缓的临床价值.方法方便选取2013年1月―2014年1月儿童运动发育迟缓患者100例作为该研究对象,随机分为2组,每组50例患者,对照组接受早期干预以及康复治疗,实验组在此基础上联合神经节苷脂治疗,对比2组儿童运动发育迟缓患者治疗的效果.结果实验组儿童运动发育迟缓患者发育异常率(18.00%)明显低于对照组(40.00%),P<0.05.结论神经节苷脂治疗儿童运动发育迟缓患者的效果较好.     

0～6岁小儿神经心理发育量表评估1岁内康复患儿的信度研究

①目的 检验0～6岁小儿神经心理发育量表(简称儿心量表)在评估小于1岁康复患儿中的信度,为该量表在儿童康复中的临床应用提供依据.②方法 取100例发育迟缓的患儿参加本研究.每一例患儿于治疗过程中作康复评价及儿心量表的同时检测,使用等级间相关系数(ICC)检验儿心量表的组内及组间信度.③结果 2次儿心量表检测结果间的相关性及儿心量表评定结果与康复评价结果间的相关性均非常显著.④结论 儿心量表用于评估小于1岁的康复患儿具有良好的信度.     

Angelman综合征合并吡哆醇依赖性癫痫一例并文献复习

Angelman综合征（AS）是以发育迟缓、智力低下、严重语言障碍、共济失调、癫痫发作、愉快表情为特征的一种罕见神经遗传性疾病。吡哆醇（维生素B6）依赖性癫痫（PDE）是一种罕见的常染色体隐性遗传病,其特征是新生儿期难治性和反复的癫痫发作,可通过高剂量吡哆醇有效控制癫痫发作。本文报道1例罕见的AS合并PDE患儿的临床表现及基因特征,并复习相关文献,以提高对该罕见病的认识。提示早期进行相关基因突变的检测,可为AS及PDE的早期诊治及预后提供临床参考。     

288例发育指标延迟患儿的临床特点分析

目的 对发育指标延迟患儿进行早期诊断、临床特点、高危因素和预后研究分析,为本病的早期诊断及早期干预提供参考。方法 随机选择2014年3月至2015年8月安徽医科大学第一附属医院小儿神经康复科288例发育指标延迟患儿作为研究组,263名正常发育儿童作为对照组,采用问卷形式,对早期诊断、临床特点和危险因素进行分析,采用引导式为主的早期干预措施对治疗组进行干预,并进行6个月的预后随访。结果 发育指标延迟的临床特点以运动发育迟缓最常见（228例,79.1%）,认知/感知发育迟缓次之（31例,10.8%）,情感交流发育迟缓（22例,7.7%）和语言发育迟缓（7例,2.4%）最低。男孩高发,初诊年龄2～36个月,平均（7.80±4.32）个月,高峰为6～12个月。高危因素主要为新生儿缺氧缺血性脑病（HIE）、早产、新生儿窒息、宫内窘迫及妊娠期高血压等。其中222例患儿随访6个月后发现159例进入正常（71.62%）,63例（28.38%）未发育正常,包括发育指标延迟34例（15.31%）,全面性发育落后（GDD）14例（6.30%）,脑性瘫痪（CP）10例（4.50%）和孤独症谱系障碍（ASD）5例（0.23%）。结论 防治HIE、早产、新生儿窒息、妊娠期高血压等可降低发育指标延迟的发生率。有明显运动、认知/感知、语言发育和情感交流发育指标延迟的患儿应早期诊断,引导式为主的早期干预可改善其预后和降低GDD、CP和ASD等的发生率。     

琥珀酸半醛脱氢酶缺陷症研究进展

琥珀酸半醛脱氢酶缺乏症是一种罕见的常染色体隐性遗传病,属于ν-氨基丁酸代谢性疾病中的一种。临床表现主要以神经系统异常为主,包括发育落后、抽搐、肌张力低下等。气相色谱/质谱技术在尿中检出4-羟基丁酸是诊断的重要依据,确诊需依靠酶学检测和基因分析。ALDH5A1基因是本病的致病基因,已发现的基因突变超过50余种,但没有热点突变。治疗方面主要是对症治疗,没有特效药物。从琥珀酸半醛脱氢酶缺乏症发现过程、致病机理、临床表现、诊断治疗、动物模型及分子遗传学等方面对该病进行综述。     

以癫痫和坏死性小肠结肠炎为表现的Sotos综合征1例报告及文献复习

目的：收集1例以癫痫和坏死性小肠结肠炎为主要表现的Sotos综合征患儿的临床资料,分析该病明确诊断、抗癫痫治疗和并发症随访的重要性。方法：患儿,男,21个月。临床表现为发育迟缓和抽搐反复发作,查体发现过度生长,面容特殊。既往新生儿期有坏死性小肠结肠炎病史。结合患儿临床和遗传学资料进行诊断,分析诊疗过程,并结合相关文献进行总结。结果：结合本例患儿临床表现、辅助检查和基因检测结果诊断为Sotos综合征和癫痫。予康复治疗1年3个月后发育迟缓有所改善,继续康复随访。予左乙拉西坦单药抗癫痫治疗1月后抽搐完全控制未再发作,复查脑电图正常。患儿新生儿期出现呕吐和血便,结合腹部彩超及X线检查诊断为坏死性小肠结肠炎和结肠穿孔,予非手术保守治疗20余天后症状逐渐改善并痊愈。结论：对于临床疑似Sotos综合征的患儿,建议行基因检测明确诊断并对症治疗,积极进行康复治疗改善患儿发育迟缓,伴癫痫发作者应积极合理使用抗癫痫药物治疗。新生儿期坏死小肠结肠炎为Sotos综合征中首次发现的临床表现,可为该综合征基因型与表型关系的研究提供参考。     

Children with learning disabilities in the paediatric clinic, Hospital Tuanku Ja'afar Seremban: an overview

The aim of the study was to document the prevalence of learning disability among the children attending the Paediatric Clinic in Hospital Tuanku Ja'afar Seremban. The demographic distribution of these patients; the age of detection of the problem; the associated medical conditions and types of intervention received by these patients were documented. Patients who were between the ages of five to twelve years were included in the study. Learning disability was divided into three categories: speech and articulation problems, academic skills disorder and other categories which included developmental delay. Children with cerebral palsy were excluded from the study. Out of 1320 patients screened, 355 were found to have learning disorders. Majority were Malays, with the male to female ratio of 1.9:1. Most of the patients stayed in Seremban. The learning problem was most commonly detected at the age of 4 years and below. The commonest type of learning disorder was developmental delay, followed by academic skills disorder, speech and academic skills problems and speech disorders. Problems that were detected early were speech problems and developmental delay. Majority of the children had associated medical conditions. Most of the patients received some form of intervention but 11.3% did not attend any intervention program at all. A strategy should be formulated and implemented to help this group of children.     

Demographical profile and clinical features of patients with bipolar disorder in an outpatient setting in Singapore

INTRODUCTION: Bipolar disorder, or manic depressive psychosis, is a psychiatric disorder characterised by extreme changes in mood, thinking, energy and behaviour. Western studies on this condition show a delay in diagnosis and treatment. The aim of this study is to examine the demographical profile and clinical features of this group of patients in Singapore to see if there is a similar delay. METHODS: Data of patients diagnosed with this condition and treated in two separate outpatient practices in the private sector from January 1999 to October 2003 were retrieved from case files and analysed. RESULTS: Of the 121 patients with bipolar disorder treated, there were 45 percent male and 55 percent female patients, and most of them were in the 20-39 year age group. Chinese formed the largest ethnic group while Malays were underrepresented. 58 percent were employed, and 48 percent were married. While the age of onset of illness ranged mainly from age 10 to 29 years, the age when they first sought treatment was from 20 to 39 years. A duration of illness of more than two years was found in 79 percent of these patients. In terms of diagnostic categories, 17 percent were bipolar I, 76 percent were bipolar II and 7 percent of the bipolar disorders, not otherwise specified. The first episode presented was depression in 75 percent and bipolar disorder was the initial diagnosis in only 34 percent of the cases. A delay in the correct diagnosis for more than two years accounted for 34 percent of the cases. Only 17 percent had a family history of bipolar disorder. 28 percent had a history of antidepressant-induced manic episodes and 17 percent had a previous episode of mixed state. Psychotic symptoms were absent in 75 percent, and 65 percent had never been hospitalised for their condition. Nine percent had made a past suicide attempt and 39 percent had a comorbid diagnosis. 46 percent were treated with a combination of mood stabilizers, neuroleptics and antidepressants and 16 percent had electroconvulsive therapy. Only 34 percent were in full remission of their illness. CONCLUSION: There was a preponderance towards the younger age groups for the age of onset, and the type of first episode was typically depression. There was a significant delay in diagnosis and treatment of patients with bipolar disorder. These features were strikingly similar to Western studies. Bipolar II was the diagnostic category seen more than bipolar I in the outpatient setting. Polypharmacy was the norm and a large group of patients did not achieve full remission.     

心血管疾病患者心理障碍的识别与治疗

临床上心血管疾病合并心理障碍（双心疾病）非常常见,但国内综合医院医生、基层医院全科医生有时尚不能及时准确识别,已成为突出的问题。本文结合国内外有关心血管疾病合并心理障碍诊治的近期进展,针对其流行病学、诊治现状及临床常见类型进行充分阐述,并重点介绍心血管疾病合并心理障碍的识别、诊断方法与主要治疗措施,以期提升综合医院医生尤其是基层医院全科医生对双心疾病的认识及诊治水平。     

电子化精神卫生平台“心情温度计”应用于社区抑郁障碍诊治探索

目的 探讨电子化精神卫生服务平台“心情温度计”在社区抑郁障碍识别和诊治管理中的作用。方法 从虹口区两个社区卫生服务中心随机抽取全科门诊患者700例,通过心情温度计在线自主筛查和辅助诊断系统中的病人健康问卷抑郁自评量表(Patient Health Questionnaire-9,PHQ-9)和简明国际神经精神访谈(Mini-International Neuropsychiatric Interview, MINI)对样本进行抑郁障碍的初步诊断筛查,并在三个月后随访患者的后续线下诊治情况。结果 社区全科门诊患者抑郁症状检出率14.86%(104/700),抑郁障碍检出率为7.86% (55/700),比临床诊断率提升6.57%。抑郁障碍患者基线诊治率16.36%(9/55),3月后随访诊治率增加10.91%(6/55),诊治率提升至27.27%。结论 电子化精神卫生平台在社区筛查和诊断评估不仅能提升社区对抑郁障碍的识别率,而且对后续实际临床诊治率也有良性推动作用。今后宜将电子化精神卫生评估整合到初级保健服务中,促进抑郁障碍的早期诊断和有效治疗。     

Adult Still's disease: a missed diagnosis

Adult Still's disease is now a well recognised distinct clinical entity. Two cases of the disorder are presented to illustrate the protean nature of the syndrome. The literature is reviewed with regards to the diagnosis, management and complications of the condition. The need for the physician to be aware of this condition to avoid unnecessary investigations and delay in instituting effective therapy will be stressed.