Autism spectrum disorder (ASD)

自闭症谱系障碍 ( ASD )
  • 文章类型: Journal Article
    (1)背景:自闭症谱系障碍(ASD)是一种神经发育障碍,与各种躯体疾病高度相关,这些疾病可以被ASD的核心症状掩盖,从而使诊断复杂化。识别共同发生的躯体疾病对于为ASD人群提供有效的医疗保健和社会服务至关重要,并影响其长期结果。在此ASD诊断过程中,对同时发生的体细胞状况进行系统评估至关重要。因此,这项研究旨在确定初始躯体评估(ISA)的组织和内容。(2)方法:我们对2005年1月至2019年12月以英文和法文发布的ASD诊断过程的临床实践指南(CPG)进行了系统回顾,并在评估指南研究和评估之后进行了评估。第二版(AGREE-II)。(3)结果:我们选择了14个质量不均匀的CPG,方法学得分在32.3和91.9之间。临床检查是ISA的第一步,以及儿科的参与,神经儿科,大多数CPG强烈推荐遗传专家。建议包括听力筛查测试(10/14),视觉检查(8/14),和系统的遗传调查(4/14)。CPG还描述了应根据许多警告信号进行的其他调查。(4)结论:在ASD诊断过程中,有必要筛查自愿的国际警告标志,以进行全面和系统的ISA。“转诊表”可用于指导临床医生并改善协调过程。该工具可以加强ASD患者并发躯体疾病的流行病学数据。
    (1) Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is highly associated with various somatic conditions that can be masked by the core symptoms of ASD and thus complicate the diagnosis. Identifying co-occurring somatic disorders is critical for providing effective healthcare and social services for ASD populations and influences their long-term outcomes. A systematic assessment of co-occurring somatic conditions is essential during this ASD diagnostic process. Therefore, this study aimed to identify the organization and content of the initial somatic assessment (ISA). (2) Methods: We conducted a systematic review of the clinical practice guidelines (CPG) for the ASD diagnostic process published between January 2005 and December 2019 in English and French and performed an appraisal following the Appraisal of Guidelines Research and Evaluation, second edition (AGREE-II). (3) Results: We selected 14 CPGs that were heterogeneous in quality, with methodological scores between 32.3 and 91.9. Clinical examinations are the first step in the ISA, and the participation of pediatric, neuropediatric, and genetic specialists was highly recommended by the majority of the CPGs. The recommendations included hearing screening tests (10/14), visual examinations (8/14), and systematic genetic investigations (4/14). The CPGs also described additional investigations that should be conducted based on numerous warning signs. (4) Conclusions: Screening for consensual international warning signs is necessary to perform a comprehensive and systematic ISA during the ASD diagnostic process. A \"referral form\" could be used to guide clinicians and improve the coordination process. This tool may reinforce epidemiological data on co-occurring somatic disorders in patients with ASD.
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  • 文章类型: Journal Article
    背景:结果报告疫苗研究中的偏倚是所有研究人员中普遍存在的问题,他们倾向于报告支持他们的信念和价值观或赞助机构的选择性结果和结论。特别是在COVID-19大流行期间,这种偏见通过前所未有的相互矛盾的疫苗研究而浮出水面。许多研究人员强烈建议并报告了COVID-19疫苗的安全性和有效性。那些接受COVID-19疫苗和疫苗的研究人员,总的来说,通常对其他提出不同于医学正统观念并反对医学共识的观点的研究人员不屑一顾。
    方法:本分析的目的是使用定性和/或定量方法严格评估七项疫苗研究,以确定结果报告偏倚,并评估其对符合医学共识的既定结论的潜在影响。四项研究声称发现自闭症与(a)血液汞水平之间没有关联,(b)麻疹,腮腺炎,风疹(MMR)疫苗,和(c)含硫柳汞的疫苗。另外三项研究声称婴儿死亡率和疫苗剂量之间没有关联,通用水痘疫苗接种和带状疱疹,以及大流行性流感疫苗和胎儿损失。
    结果:结果报告偏倚和独立再分析的存在证明了对观察到的效应的方向和大小的影响-提出了关于原始研究设计和结论的稳健性的问题,并挑战了当前的医学共识。医学共识证明疫苗与自闭症谱系障碍(ASD)有任何因果关系,然而,没有提出其他合理的理由。医学共识将ASD的显着增加归因于更好的病例确定和扩大的临床诊断。根据2018年的数据,据估计,44名8岁儿童中有1名患有ASD。从1990年到2019年,美国估计有200万新的ASD病例。终身社会成本超过7万亿美元(2019年美元)。维持医学共识会阻碍公共卫生的发展吗?还是已经这样做了?
    结论:利益冲突(例如,金融),卫生监管机构和制药业之间比比皆是,这影响了最终被认为是医学共识的东西。结果报告偏见在某种程度上是所有研究人员固有的,掩盖了医学和科学真理。公共卫生的进步要求研究人员具有诚信,开放和愿意合作解决矛盾的发现。事实上,它通常是通过细致,严谨,科学调查矛盾的发现,医学科学已经进步,并有助于改善公共健康-因为医学共识和正统观念可能是不正确的。
    BACKGROUND: Outcome reporting bias in vaccine studies is a widespread problem among all researchers who have a tendency to report selective results and conclusions that support their beliefs and values or those of sponsoring agencies. Especially during the COVID-19 pandemic, this bias surfaced through the unprecedented proliferation of conflicting vaccine studies. Many researchers strongly recommend and report on the safety and effectiveness of the COVID-19 vaccine. Those researchers who embrace the COVID-19 vaccine and vaccines, in general, are often dismissive of other researchers who present views that differ from medical orthodoxy and oppose medical consensus.
    METHODS: The aim of this analysis is to critically evaluate seven vaccine studies using qualitative and/or quantitative approaches to identify outcome reporting bias and assess its potential impact on the stated conclusions that align with medical consensus. Four studies claim to have found no association between autism and (a) blood levels of mercury, (b) measles, mumps, and rubella (MMR) vaccine, and (c) thimerosal-containing vaccines. Three other studies claim no association exists between infant mortality rate and the number of vaccine doses, universal varicella vaccination and herpes zoster, and pandemic influenza vaccines and fetal losses.
    RESULTS: The presence of outcome reporting bias and independent reanalysis demonstrated an impact on both the direction and magnitude of the observed effect - raising questions concerning the robustness of the original study design and conclusions and challenging the current medical consensus. Medical consensus has exonerated vaccines as having any causal relationship to autism spectrum disorders (ASDs), yet no other reasonable cause has been proposed. Medical consensus attributes significant ASD increases to better case ascertainment and broadened clinical diagnosis. According to 2018 data, an estimated 1 in 44 eight-year-olds has been identified with ASD. From 1990 to 2019, there have been an estimated two million new cases of ASD in the US, with lifetime social costs exceeding $7 trillion (in 2019 dollars). Can perpetuating medical consensus impede the advancement of public health? Or has it already done so?
    CONCLUSIONS:  Conflicts of interest (e.g., financial) that abound between health regulatory agencies and the pharmaceutical industry impact what is ultimately reckoned as medical consensus. Outcome reporting bias that is inherent to all researchers to some degree, obscures medical and scientific truth. Advancement of public health requires that researchers have integrity and an openness and willingness to collaborate to resolve contradictory findings. In fact, it is usually through meticulous, rigorous, scientific investigation of contradictory findings that medical science has advanced and contributed to improvements in public health - since medical consensus and orthodoxy can be incorrect.
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  • 文章类型: Journal Article
    背景:被诊断患有自闭症谱系障碍(ASD)的个体的需求与沙特阿拉伯目前可用的服务之间存在很大差距。服务通常很难获得,质量不一致,不完整,不满意,而且昂贵。因此,全国需要就自闭症儿童评估和管理的适当标准达成专家共识。
    方法:由代表沙特阿拉伯自闭症患者管理的所有相关专业和机构的专业人员组成了一个指南制定小组(GDC)。他们在21个月内定期开会。指南的制定过程包括五个步骤,从审查现有指南开始,到讨论和撰写本手稿结束。采用了正式的投票程序,并讨论了建议,直到达成共识。
    结果:在以下方面达成了共识:需要由经验丰富的多学科小组对转诊为ASD的儿童进行专门的诊断评估。应该对它们进行医学病因评估,仔细回顾了他们的行为史,并直接观察症状。鼓励纵向评估,以反映症状对个人功能能力的影响,而与他们的家庭,在同龄人中,在学校环境中。对语言的额外正式评估,认知,和适应能力以及感官状态对于完成诊断过程至关重要。干预措施应该是个性化的,适当的发展,密集,使用与干预目标相关的绩效数据来评估和调整干预措施。必须识别目标症状,以解决和开发监控系统来跟踪变化。
    结论:ASD是一种复杂的疾病,临床表现差异很大,因此需要一系列协调工作的专业人员进行评估和干预。行为和环境干预是实现最佳结果的关键,与特定症状的药物结合使用。父母参与干预措施对于维持治疗收益至关重要。
    BACKGROUND: There is a large gap between the needs of individuals diagnosed with autism spectrum disorder (ASD) and the currently available services in Saudi Arabia. Services are often difficult to access, inconsistent in quality, incomplete, unsatisfactory, and costly. As such, there is a national need for expert consensus on the appropriate standards for the assessment and management of children on the autism spectrum.
    METHODS: A guideline development group (GDC) was formed by professionals representing all related specialties and institutions involved in the management of individuals on the autism spectrum in Saudi Arabia. They met on a regular basis over 21 months. The guideline development process consisted of five steps starting from reviewing existing guidelines and ending with discussing and writing this manuscript. A formal voting process was utilized and recommendations were discussed until a consensus was reached.
    RESULTS: There was consensus on the following: A specialized diagnostic assessment needs to be carried out by an experienced multidisciplinary team for children referred to assess for ASD. They should be assessed for medical etiology, their behavioral history carefully reviewed, and symptoms directly observed. Longitudinal assessments are encouraged to reflect the effects of symptoms on the individual\'s ability to function while with their family, among peers, and in school settings. An additional formal assessment of language, cognitive, and adaptive abilities as well as sensory status is essential to complete the diagnostic process. Interventions should be individualized, developmentally appropriate, and intensive, with performance data relevant to intervention goals to evaluate and adjust interventions. Target symptoms must be identified to address and develop monitoring systems to track change.
    CONCLUSIONS: ASD is a complex condition with widely varying clinical manifestations, thus requiring evaluation and intervention by a range of professionals working in coordination. Behavioral and environmental interventions are the key to optimal outcomes, in conjunction with medications when indicated for specific symptoms. Parental involvement in interventions is vital to sustaining therapeutic gains.
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  • 文章类型: Journal Article
    Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate diagnosis and treatment. There are established guidelines with regard to the identification and treatment of ADHD and ASD as independent conditions. However, ADHD and ASD were not formally recognised diagnostically as co-occurring conditions until the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) was published in 2013. Hence, awareness and understanding of both conditions when they co-occur is less established and there is little guidance in the clinical literature. This has led to uncertainty among healthcare practitioners when working with children, young people and adults who present with co-existing ADHD and ASD. The United Kingdom ADHD Partnership (UKAP) therefore convened a meeting of professional experts that aimed to address this gap and reach expert consensus on the topic that will aid healthcare practitioners and allied professionals when working with this complex and vulnerable population.
    UK experts from multiple disciplines in the fields of ADHD and ASD convened in London in December 2017. The meeting provided the opportunity to address the complexities of ADHD and ASD as a co-occurring presentation from different perspectives and included presentations, discussion and group work. The authors considered the clinical challenges of working with this complex group of individuals, producing a consensus for a unified approach when working with male and female, children, adolescents and adults with co-occurring ADHD and ASD. This was written up, circulated and endorsed by all authors.
    The authors reached a consensus of practical recommendations for working across the lifespan with males and females with ADHD and ASD. Consensus was reached on topics of (1) identification and assessment using rating scales, clinical diagnostic interviews and objective supporting assessments; outcomes of assessment, including standards of clinical reporting; (2) non-pharmacological interventions and care management, including psychoeducation, carer interventions/carer training, behavioural/environmental and Cognitive Behavioural Therapy (CBT) approaches; and multi-agency liaison, including educational interventions, career advice, occupational skills and training, and (3) pharmacological treatments.
    The guidance and practice recommendations (Tables 1, 4, 5, 7, 8 and 10) will support healthcare practitioners and allied professionals to meet the needs of this complex group from a multidisciplinary perspective. Further research is needed to enhance our understanding of the diagnosis, treatment and management of individuals presenting with comorbid ADHD and ASD.
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  • 文章类型: Journal Article
    This study aimed to investigate the prevalence of guidelines and routines used nationwide when children with autism spectrum disorder (ASD) are taken care of and examined in a radiology department during a peri-radiographic process.
    A nationwide survey was compiled and distributed to 94 radiology departments throughout Sweden, i.e. those performing more than 100 000 radiographic examinations annually. The survey was designed as a web questionnaire with seven questions on possible guidelines and/or routines for the departments when preparing and taking care of children with ASD in conjunction with a radiographic procedure. The data were scrutinized, using descriptive statistics.
    In total, 86 radiology departments responded to the survey (response rate 92%). Of those departments, 40 did not examine children with ASD. None of the departments included in the study had existing guidelines underpinning the routines when preparing and performing radiographic examinations for children diagnosed with ASD. A few departments (n = 8) would set aside more time for the procedure if it were known in advance that the child to be examined had been diagnosed with ASD. Also, some departments (n = 7) had radiographers who were more experienced in the care of children who would be appointed to perform examinations for children with ASD.
    It is suggested that guidelines should be developed in order to increase interaction in a supportive way and decrease anxiety during the peri-radiographic process with children with ASD.
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