Williams综合征5例

Williams综合征，即主动脉瓣上狭窄综合征，又称怪颜综合征、婴儿高血钙综合征。本征最先由Fanconi于1952年做了详细的记载．1961年Williams经心导管检查最后确定了血管病变的特征．本征尚可合并肺动脉分支的多发性狭窄，半数可有特殊的丑陋面容，故又称为小妖精面容综合征。现     

Peabody运动发育量表在早产儿神经发育障碍评估中的应用

随着围生医学的日益发展,早产儿存活率明显提升,其早期严重并发症多有效控制,但部分存活早产儿遗留脑性瘫痪、运动发育迟缓、视听觉损害等神经发育障碍,严重影响了其生存质量.作为新生儿体格检查的一部分,Peabody运动发育量表在了解新生儿的早期智能发育情况、行为能力以及神经发育情况方面发挥越来越重要的作用.本文就Peabody运动发育量表在早产儿神经发育障碍评估中的应用进行综述.     

主动脉瓣上狭窄,Williams综合征与弹性蛋白基因

主动脉瓣上狭窄是一种以升主动脉局限性狭窄或弥漫性发育不良为特征的先天性心脏病，若合并多器官功能紊乱则称为Ｗｉｌｌｉａｍｓ综合征。近年来研究显示，弹性蛋白基因的异常改变与这种血管病变的病理发生学密切相关，并有望藉此发现其诊断和治疗的新途径。     

Williams综合征临床诊断和基因缺失的研究

目的 通过临床表现和实验室检查探讨我国主动脉瓣上狭窄（SVAS）患儿中Williams综合征（WS）的诊断标准。方法 对26例因SVAS就诊的患儿,根据Lowery的WS表现型评分表对主要症状进行评分,同时观察患儿一般症状,并采用荧光原位杂交（FISH）技术检测WS相关的弹性蛋白（EIN）基因和LIM激酶1（LIMK1）基因的微缺失。等于4分者3例,小于4分者4例,均未检测到相关基因的缺失。结论 SVAS患儿中,Lowery的WS表现型评分大于4分者可诊断为WS,WS患儿存在EIN基因和LIMK1基因的微缺失。     

小儿胃肠运动的发育

胃肠道是一个庞大的系统,它对食物进行消化、吸收,最后将残余物排出体外。胃肠道的这种运动功能十分复杂,而对胃肠道运动发育的研究则是这方面的基础和首先应弄清楚的环节。新生儿呼吸护理和营养支持的进展使超早产儿的存活率大大提高,也使我们能够对超早产儿的胃肠道运动的发育有了一定的认识。静脉营养虽在短期内是救命性的,但也增加了早产儿败血症、栓塞、肝胆疾病和胆结石的发生,而不合理的肠道内营养也会引起一些并发症．如梗阻性呼吸困难,胃反流物的吸人或新生儿坏死性小肠结肠炎等。胃肠道运动发育的不成熟是早产儿进行肠道内…     

Peabody运动发育评估与干预学习班将在京举办

《Peabody运动发育量表》及配套的《运动训练方案》是一套优秀的运动发育监测与干预方案。可用于0～6岁儿童运动发育的评价与早期干预、脑性瘫痪的康复评定与功能训练。该套方案不仅具有较高的专业水准,而且易学易用。     

Alberta婴儿运动量表对新生儿重症监护室高危儿出院后筛查运动发育落后的准确性研究

目的 分析Alberta婴儿运动量表（AIMS）在NICU高危儿随访中筛查运动发育落后的应用价值，为更好解释患儿病情和尽早合理干预提供依据。方法 纳入经NICU治疗后并于2013年11月至2015年1月在上海健高儿科门诊部随访的高危儿，行AIMS和Peabody运动发育量表-第2版（PDMS-2）评估。将患儿的AIMS总分与PDMS-2的粗大运动发育商（GMQ）进行百分位数换算，分析两者的相关性。以6月龄后GMQ≥90作为运动发育正常的参考标准，绘制AIMS百分位数的ROC曲线，计算约登指数和预测界值。进而根据所得界值分析AIMS预测运动发育落后的价值。结果 70例高危儿进入分析，产生170个AIMS数据和70个6月龄PDMS-2 GMQ数据。0~3月龄的AIMS百分位数与PDMS-2的GMQ百分位数相关系数（r）为0.09（P=0.69）；≥4月龄两者的r为0.73（P＜0.001）。与参考标准比较，形成AIMS百分位数的ROC曲线，曲线下面积为0.929（95%CI:0.876~0.982），预测界值为P17.5。以AIMS百分位数＜17.5预测运动发育落后的敏感度为87.6%（95% CI:68.4％~95.4％），特异度为88.1%（95%CI:80.6％~93.1%），阳性预测值为65.0%（95%CI:48.3％~78.9％），阴性预测值为96.3%（95%CI:90.2％~98.8％）。结论 ＞3月龄的高危儿行AMIS评估对识别运动发育正常有很高的预测价值，为避免对高危儿过度诊断和干预提供依据。     

发育性协调障碍儿童运动技能和家庭环境研究

目的 评估发育性协调障碍(Developmental Coordination Disorcler DCD)儿童的运动技能和家庭环境情况,为DCD的病因学研究提供线索.方法 根据DSM-IV诊断标准,采用DCDQ问卷2006年5月在苏州市区两所小学进行筛查,对筛选的41名儿童(DGD)按1:1设立对照对进行运动技能和家庭环境的研究.结果 DCD儿童手灵巧度、球类运动技巧、动/静态平衡能力均低于对照组,具有统计学意义;此外父母文化程度、家庭每月总收入、家庭人均居住面积对DCD儿童均有明显影响,Logistic回归分析显示家庭每月总收入、家庭人均居住面积为DCD的影响因素.结论 针对DCD儿童应建立医院-学校-家庭共同参与的多方位、统合式干预模式.     

Peabody运动发育评估与干预学习班通知

《Peabody运动发育量表》及配套的《运动训练方案》是一套优秀的运动发育监测与干预方案,可用于0~6岁儿童运动发育的评价、高危儿随访与早期干预,以及脑性瘫痪的康复评定与功能训练。该套方案不仅具有很高的专业水准,而且又易学易用,既适合于专业的康复机构,也适合于基层儿科与儿童保健科使用。由北京大学第一医院儿科与物理医学康复科共同主办的第10期《Peabody运动发育评估与干     

Early development in Williams syndrome

Background: The aim of the present study was to gain a better understanding of the motor performance in Williams syndrome for early intervention of rehabilitation programs. Methods: Eleven Williams syndrome patients were evaluated from the pediatric clinics. Seven patients younger than 42 months were evaluated with the Bayley II Test for mental development index (MDI) and psychomotor development index (PDI). Four patients older than 42 months were evaluated with the Bruininks–Oseretsky Test (short form) of motor profile. The raw scores were measured and converted to the standard scores for comparison. Results: A significantly mental and psychomotor development delay of 6.1 and 5.7 months individually was found compared to that of the mean age (P > 0.0047 and 0.0053). Juvenile Williams syndrome patients were apparently retarded (<10‰ rank) in motor development in comparison with persons of the same age. The results showed that motor performance was severely delayed not only in Williams syndrome children but also in Williams syndrome juveniles. Conclusion: It is important for clinicians to work out a comprehensive plan to help the motor development of patients with Williams syndrome in addition to treating their medical problems, and upper limb dexterity may be the goal for training.     

Pseudohypertension in a child with Williams syndrome

Summary Pseudohypertension has often been reported in elderly subjects, but is an unusual phenomenon in children. We report the case of a 5-year-old child who presented with features of Williams syndrome (characterized by elfin facies, supravalvar aortic stenosis, and peripheral pulmonary artery stenosis). Repeated blood pressure recordings made with appropriately sized blood pressure cuffs were very high, while simultaneous intraarterial blood pressure was normal, confirming the presence of pseudohypertension. This was shown to be caused by excessively thickened arterial vessels.     

Williams syndrome: A clinical study of children and adults

Abstract: Eighteen individuals in Western Australia with Williams syndrome were surveyed. Nine were adults. The majority (72%) presented initially because of developmental delay. The diagnosis was made at an average age of 35 months and in over half the cases was made by general paediatricians. Two-thirds of those surveyed had a significant cardiac murmur and eight had features of supravalvular aortic stenosis. Reduced peripheral circulation was found in 22%. One half had mild musculoskeletal abnormalities, joint contractures being the most common. Chronic or recurrent urinary symptoms were present in one-third of cases. Adults tended to be on a lower height centile and were more obese compared to children. The early diagnosis of Williams syndrome remains elusive. A wide range of complications may develop.     

Biliary hypoplasia in Williams syndrome

Neonatal hepatitis and biliary hypoplasia are not recognised features of Williams syndrome. A case of Williams syndrome, presenting with neonatal conjugated hyperbilirubinaemia leading to an initial misdiagnosis is reported.     

Severe colonic diverticulitis in an adolescent with Williams syndrome

Williams Syndrome (WS) is a condition with multisystemic involvement caused by a genetic deletion in chromosome 7. Colonic diverticulosis has been described in adults with WS; however, it has not previously been reported in adolescents with WS. We report an adolescent boy with WS who developed complicated colonic diverticulitis and briefly review the possible aetiology of diverticular disease.     

荧光原位杂交检测Williams综合征及主动脉瓣上狭窄患儿的弹性蛋白基因缺失

目的　试图了解主动脉瓣上狭窄（ＳＶＡＳ） 和Ｗｉｌｌｉａｍｓ 综合征（ ＷＳ） 患儿弹性蛋白基因（ＥＬＮ） 缺失的不同程度,从分子水平为鉴别诊断提供有力的实验室依据。方法　采用含ＥＬＮ 位点的地高辛标记的单一序列探针ＷＳＣＲ 探针,对８ 例以ＳＶＡＳ收治入院的患儿染色体标本进行荧光原位杂交（ＦＩＳＨ） ,同时根据Ｌｏｗｅｒｙ 的ＷＳ表现型评分表进行症状评估。结果　８ 例患儿中５ 例为ＷＳ,１ 例为单纯性ＳＶＡＳ,另２ 例尚属可疑。结论　ＷＳ中ＥＬＮ 位点的缺失为半合子状态,ＦＩＳＨ 是一种协助临床鉴别中国人ＷＳ和ＳＶＡＳ的有效方法。     

An autopsied case of Williams syndrome complicated by moyamoya disease

An 18 year old girl with typical clinical features of Williams syndrome suddenly died of intracerebral hemorrhage due to moyamoya disease. Autopsy revealed vascular abnormalities, such as supravalvular aortic stenosis (SAS) and an abnormal complicated cerebrovascular network in the cerebral arteries. The arterial wall of the SAS lesion consisted of thickened medial tissue showing elastic disorganization with prominence of the smooth muscle cells. The narrowed vessels of the circle of Willis showed intimal thickening with an extremely wavy internal elastic lamina and marked thinning of the media. To our knowledge, this is the first report of moyamoya disease associated with Williams syndrome.