维生素D在孤独症谱系障碍发病机制中的研究进展

孤独症谱系障碍(ASD)是一组神经发育障碍性疾病,虽然ASD患病率不断上升,但其发病机制至今未明。目前研究提示其可能与遗传因素、免疫因素和环境因素有关。有研究表明维生素D(Vit D)缺乏与ASD患病率存在负相关,补充Vit D可能降低ASD的发病风险。因为Vit D的广泛生理功能,Vit D可作为类固醇激素作用于遗传...     

孤独症谱系障碍患儿血清25(OH)D水平的检测

目的了解孤独症谱系障碍(ASD)患儿维生素D营养状况,探讨维生素D水平与ASD的关系。方法采用高效液相色谱-串联质谱法对117例新诊断的ASD患儿和109例健康对照儿童进行血清25(OH)D检测,并根据血清25(OH)D水平,将维生素D状况分为正常(30 ng/m L)、不足(10~30 ng/m L)和缺乏(10 ng/m L),比较两组儿童维生素D营养状况。结果 ASD患儿25(OH)D水平(19±9 ng/m L)明显低于对照组(36±13 ng/m L),差异有统计学意义(P0.01)。ASD患儿中维生素D缺乏和不足率为89.7%,明显高于对照组(52.3%),差异有统计学意义(P0.01)。结论 ASD患儿存在维生素D缺乏或不足,维生素D缺乏和不足有可能是ASD发病的环境/遗传因素。     

儿童孤独症谱系障碍的环境危险因素研究

目的 了解与儿童孤独症谱系障碍(ASD)发病相关的可能环境危险因素。方法 采用病例对照研究的方法,选择诊断为ASD的男童81例、全面发育迟缓(GDD)男童74例及健康体检男童163例作为研究对象,采用自制儿童养育环境调查表记录一般人口学资料、家庭社会经济情况、父母生活习惯及环境接触、母亲孕期健康状况、儿童出生时情况、生后养育环境等资料,运用多因素logistic回归分析法调查ASD和GDD发生的环境危险因素。结果 多因素logistic回归分析显示母亲职业毒物接触、孕期疾病及被动吸烟史、儿童出生地点、出生后第2年户外活动、与同龄儿童交流机会等6项环境危险因素与儿童ASD患病有显著相关性(OR值分别为20.675、3.559、2.422、2.646、23.820、5.081,PP结论 母亲职业毒物接触、孕期疾病及儿童出生地点级别低可能是与ASD特异关联的危险因素,而孕期被动吸烟、与同龄儿童交流机会及第2年户外活动少是儿童ASD的非特异性环境危险因素,提示ASD的发生发展可能受基因与环境因素交互作用的影响。     

维生素D在孤独症谱系障碍中的作用研究进展

孤独症谱系障碍(ASD)目前病因和发病机制尚不清楚。近年来的研究发现ASD患儿普遍存在维生素D的缺乏,维生素D与ASD的关系逐渐引起人们的关注。该文对ASD患儿外周血维生素D水平的检测结果、维生素D水平低下的可能原因及其与ASD病因的可能关系、补充维生素D对ASD的疗效等研究进展作一综述。     

孤独症谱系障碍发病机制的研究进展

孤独症谱系障碍(ASD)是由三个核心行为领域的损伤定义的一组复杂的神经精神病症:社交互动、言语和非言语交流、以及受限制的兴趣/重复行为。广泛的遗传学研究已经鉴定了许多孤独症的易感基因,并增加了对从头变异和遗传拷贝数变异的贡献的理解。笔者将最近的基因发现置于发育和大脑回路环境中,并从遗传、分子、细胞和神经多个回路领域对孤独症神经病理学进行基本理解。回顾利用小鼠动物模型以探求ASD脑机制的文献,以期从了解大脑发育背景下揭示个体风险基因可能如何运作以及和患者症状的关联。明确研究与大脑神经环路相关的机制可能从理论上指导对孤独症的面向特定神经回路的个性化治疗的方案,从而产生更好的干预疾病进程和良性的行为转化的结果。     

叶酸和维生素B12与孤独症谱系障碍儿童症状和发育水平相关性研究

目的　探讨孤独症谱系障碍（ASD）儿童与正常儿童之间叶酸及维生素B12（VB12）水平的差异,并分析叶酸和VB12水平与ASD儿童症状及发育水平的相关性。方法　对2016—2017年海南省妇幼保健院康复中心的244例ASD儿童采用孤独症行为量表（ABC）、社交反应量表（SRS）评估ASD儿童的症状,采用Gesell发育量表（GDS）评估ASD儿童的发育水平,同期选取93名海口市幼儿园的健康儿童作为对照组,采用免疫测定法检测两组儿童血清叶酸、VB12水平。结果　244例ASD儿童血清叶酸水平（10.68±4.08）明显低于93名正常儿童（11.83±4.37）（P＝0.02）,VB12浓度在两组之间差异无统计学意义（P＞0.05）。叶酸和VB12浓度与ABC、SRS量表无相关关系。叶酸水平与GDS中的适应性行为（rs＝0.17,P＝0.01）、大运动（rs＝0.29,P＜0.01）、精细动作（rs＝0.13,P＝0.04）、语言（rs＝0.13,P＝0.04）以及个人-社会行为（rs＝0.14,P＝0.03）均有明显正相关关系。VB12与GDS各能区无相关关系。结论　ASD儿童较正常儿童叶酸水平更低。叶酸水平与ASD儿童症状量表无明显相关性,与其发育水平具有明显正相关关系,叶酸可能与神经心理发育水平关系密切,其补充可能成为ASD儿童的辅助治疗手段之一。     

孤独症谱系障碍儿童睡眠障碍影响因素研究进展

孤独症谱系障碍（ASD）是一组较为严重的神经发育障碍性疾病,睡眠障碍是其常见的共患病之一。近年来,国内外也越来越关注ASD儿童的睡眠障碍,缓解ASD患儿睡眠障碍不仅有助于改善临床症状,增加康复疗效,促进预后,同时也会减轻抚养者的压力,但其发病机制较为复杂且缺乏特异性生物指标,造成了诊断和治疗的不确定性。该综述通过对国内外有关ASD儿童睡眠障碍影响因素的研究成果进行系统整理并作一总结,为未来更好地预防和治疗ASD儿童睡眠障碍提供有益的参考。     

父母超重/肥胖与子代孤独症谱系障碍的关系

目的 探讨母孕前父母超重/肥胖与子代孤独症谱系障碍（ASD）发生的关系。方法 选取ASD儿童36名（ASD组）及性别、年龄与之相匹配的72名正常儿童（对照组）纳入研究。采用问卷调查的方式收集母亲孕前两组儿童父母身高、体重以及母亲孕期增重等信息,采用单因素和多因素logistic回归法分析母孕前父母超重/肥胖与子代ASD的关系。结果 ASD组母孕前父亲超重/肥胖的检出率高于对照组（56% vs 32%,P=0.018）。单因素和多因素logistic回归分析均显示母孕前父亲超重/肥胖是子代发生ASD的危险因素（分别OR=2.66、2.58,P < 0.05）。结论 母孕前父亲超重/肥胖是子代罹患ASD的独立危险因素,因此在母亲妊娠前,父亲的体重指数应控制在正常范围内,以减少子代ASD的发生。     

孤独症谱系障碍遗传检测意义及方法选择专家建议

孤独症谱系障碍（autism spectrum disorder,ASD）是一组高异质性的神经发育障碍性疾病,目前有关ASD的发病机制尚未阐明,但研究证实遗传物质即基因突变是ASD和ASD样症状的重要病因。遗传检测技术的不断发展,为认识ASD和ASD样症状的遗传背景奠定了良好的基础,该文就相关问题及建议进行叙述。     

孤独症筛查量表在早期识别孤独症谱系障碍中的临床价值

目的 探讨孤独症筛查量表早期识别孤独症谱系障碍（ASD）的临床价值。方法 以于重庆医科大学附属儿童医院就诊,并完成ASD筛查及诊断性测试的2 571名儿童为研究对象,最后确诊ASD 2 074例,全面发育迟缓（GDD）261例,发育性语言障碍（DLD）206例,正常发育儿童30例。运用受试者工作特征（ROC）曲线评价改良婴幼儿孤独症筛查量表（M-CHAT）和孤独症行为量表（ABC）筛查ASD的最佳阈值及灵敏度、特异度。结果 M-CHAT量表筛查ASD的灵敏度较高（88.3%）,特异度较低（36.0%）;其灵敏度随着年龄的增长而降低,在16~< 48月龄儿童中,其灵敏度大于80%。ABC量表筛查ASD的特异度较高（87.3%）,灵敏度较低（27.2%）;运用ROC曲线方法得出其最佳截点值为47.5分。联合M-CHAT和ABC量表筛查ASD,并建立多元线性回归模型,其特异度为85.8%,灵敏度为56.6%。结论 M-CHAT量表筛查ASD灵敏度较高,但特异度较低;在16~< 48月龄儿童中的筛查效果相对较好。ABC量表筛查ASD特异度较高,但灵敏度较低。基于联合M-CHAT和ABC量表筛查ASD的多元线性回归模型法识别ASD的效能较好。     

Vitamin D deficiency and insufficiency after pediatric liver transplantation

Vitamin D deficiency and insufficiency are increasingly recognized in the general population, including healthy children. There is also an increasing emphasis on the importance of vitamin D status following pediatric liver transplantation and specifically its relationship to metabolic bone disease and growth retardation. Vitamin D insufficiency has also been associated with multiple immunological and metabolic disorders in adults. To our knowledge, this has not been systematically evaluated in children undergoing liver transplantation to date. Between October 2004 and August 2008, serum 25‐(OH)‐vitamin D levels were measured in 199 children who had undergone liver transplantation at Birmingham Children's Hospital. Potential factors contributing to vitamin D levels were evaluated. Additionally, we evaluated a possible relationship between vitamin D levels and immunological phenomena and metabolic complications. Median 25‐(OH)‐vitamin D level was 19.5 ng/mL (range: 4.4–71.4 ng/mL). A total of 105 children (53%) had insufficient vitamin D levels and 28 children (14%) showed vitamin D deficiency. The only factors found to be associated with vitamin D deficiency were season of sample, ethnicity, and PTH levels. Vitamin D deficiency was more prevalent during the first year after transplantation. We did not find a significant relationship between vitamin D levels and graft function or any other immunological and metabolic complications. Vitamin D insufficiency and deficiency are common in children after liver transplantation, especially in winter and spring and in non‐white patients. Initial post‐transplant period and high PTH are significantly associated with vitamin D deficiency. Vitamin D status should be monitored following pediatric liver transplantation and vitamin D supplementation provided as required.     

Nutritional rickets around the world: causes and future directions

INTRODUCTION: Nutritional rickets has been described from at least 59 countries in the last 20 years. Its spectrum of causes differs in different regions of the world. METHODS: We conducted a systematic review of articles on nutritional rickets from various geographical regions published in the last 20 years. We extracted information about the prevalence and causes of rickets. RESULTS: Calcium deficiency is the major cause of rickets in Africa and some parts of tropical Asia, but is being recognised increasingly in other parts of the world. A resurgence of vitamin D deficiency has been observed in North America and Europe. Vitamin D-deficiency rickets usually presents in the 1st 18 months of life, whereas calcium deficiency typically presents after weaning and often after the 2nd year. Few studies of rickets in developing countries report values of 25(OH)D to permit distinguishing vitamin D from calcium deficiency. CONCLUSIONS: Rickets exists along a spectrum ranging from isolated vitamin D deficiency to isolated calcium deficiency. Along the spectrum, it is likely that relative deficiencies of calcium and vitamin D interact with genetic and/or environmental factors to stimulate the development of rickets. Vitamin D supplementation alone might not prevent or treat rickets in populations with limited calcium intake.     

Vitamin D Deficiency in a Tropical Country — Treatment and Prevention in Children

Vitamin D has an important role to play in skeletal and extraskeletal health. Inspite of being a sun rich country, India has widespread vitamin D deficiency. Vitamin D deficiency can lead to serious consequences like hypocalcemic seizures and increased risk of respiratory tract infections in neonates and infants. International expert groups advocate universal supplementation for non-formula fed infants, pregnant and lactating women and those at risk of deficiency. A body of literature on vitamin D status in India is being generated, which may guide clinical practice in our country. Treatment of deficiency must be undertaken with minimally effective doses to avoid the risk of toxicity. Sensible sunshine exposure should be encouraged to facilitate vitamin D production from natural sources.     

A clinician's guide to vitamin D and bone health in children

Vitamin D and calcium are key determinants of bone health; deficiency in either or both can cause nutritional rickets in children and osteomalacia in children and adults. Vitamin D is essential for absorption and supply of calcium and phosphate for bone mineralisation. Individuals at risk of deficiency in either nutrient can be broadly classed into 2 categories; healthy at-risk population and those with pre-disposition due to underlying chronic health conditions. In the former, vitamin D deficiency (VDD) predominantly results from restricted Ultraviolet B, either due to environmental (high latitude residence), biological (dark skin pigmentation) or behavioural (sun avoidance, covered clothing) factors. Calcium deficiency is predominant in individuals with restricted diet. Only a small fraction of children, during states of high physiological demands such as infancy and adolescence, come to medical attention with symptomatic VDD (hypocalcaemic seizures, dilated cardiomyopathy, tetany) or rickets. The vast majority of at-risk population with osteomalacia (including pregnant women) remain unrecognised due to its non-specific presentation (malaise, tiredness). Clinicians can play an active role in recognising risk groups and optimising bone health through promotion of dietary calcium, vitamin D supplementation at every health care contact and biochemical surveillance in individuals with chronic conditions. Liberal supplementation of at-risk groups is more effective than biochemical testing; however large-scale prevention requires political support to implement robust supplementation and food fortification policies. This article briefly outlines what clinicians need to know about vitamin D and bone health in children and young people.     

维生素D与儿童神经精神系统疾病的研究进展

维生素D是一组具有生物活性的脂溶性类固醇衍生物,不仅与钙、磷代谢有关,在维持神经精神系统正常生理功能中也发挥着重要作用.孤独症、多动症、精神分裂症、阿尔茨海默病、帕金森病、抑郁症等多种神经精神疾病经常伴随有维生素D缺乏.该文综述了近年来国内外关于维生素D与儿童神经精神系统疾病的研究进展.     

What’s new in autism?

This review on autism spectrum disorder (ASD) focusses on recent insights in the clinical picture, such as continuity of the phenotype and the concept of broader phenotype, on epidemiology and on clinical issues relevant to physicians, including new methods for early screening and diagnosis, psychiatric and somatic co-morbidity, and the expansion of so-called complementary and alternative treatments. ASD is a disorder with mainly genetic causes and recent insights show that a variety of genetic mechanisms may be involved, i.e. single gene disorders, copy number variations and polygenic mechanisms. Technological advances in genetics have lead to a number of promising findings, which, together with other lines of fundamental research, suggest that ASD may be a disorder of connectivity in the brain, at least in a subgroup of patients. It is possible that part of the genetic load in autism actually reflects gene-environment interaction, but there is no evidence for purely environmental causes in a substantial number of cases. Clinical research suggests that ASD may be a multi-system disorder in at least a subgroup of subjects, affecting the gastro-intestinal (GI) tract, the immune system and perhaps other systems. Behavioural treatments remain the cornerstone of management, and are mainly aimed at stimulation of the domains of impaired development and reducing secondary behaviours. These treatments are constantly being refined, but the main progress in this area may be the increase of research on effectiveness.