现状。诊断替代效应。

近几十年来,诊断替代的过程一直在发生,智力障碍诊断的使用逐渐减少,自闭症谱系障碍的诊断增加,除其他原因外,这是由于专业人员的敏感性提高,以及寻求自闭症谱系障碍的早期诊断(目标是在 18 至 24 个月之间诊断),然而,这种情况在智力障碍的情况下不会发生,因为其诊断标准需要进行经过验证的个性化智力测试。 5-6岁。

标准 E 的应用: 临床指南:

临床实践指南推荐 运用临床判断,高于使用算法或特定测试,用于区分任何年龄的智力障碍和自闭症谱系障碍。但是,可以考虑以下建议:

1. 进行定量的认知和适应性行为评估。

在评估智力障碍人士是否患有 ASD 的潜在诊断时,有必要 了解孩子的真实认知能力 (基于智商、发育商数或其他发育量化)并了解这些分数可能会受到与认知能力无关的原因(例如行为障碍的存在)的影响。因此,建议负责诊断的临床医生直接进行认知测量测试或对测试期间个体的行为进行详细描述。以配对的方式, 适应性行为的测量 它将提供背景来解释已确定的困难在全球范围内产生的临床影响。

2. 应评估是否存在可能影响认知评估的其他合并症残疾(视觉、听觉、运动)。

的评估 存在共病运动或感觉障碍 (视力、听力等)应纳入鉴别诊断,特别是考虑到患有神经遗传疾病和中度或重度智力障碍的个体同时出现多种残疾的频率很高。如果存在感觉障碍,重要的是要考虑对这些特定人群使用经过验证的工具(例如,失明儿童的特定发育量表),并考虑包括这些特定问题的专家在内的多学科评估。

3. 由于标准 E 要求对于 ASD 和 ID 的共病诊断,社交沟通技能必须低于一般发育水平的预期水平,因此 评估者必须评估他或她确定观察到的缺陷是否与儿童发展水平的预期一致的能力。.

到。你必须考虑 达到一定发展水平时预期的行为。然而, 孩子的实际年龄也相关,因为生活经历对行为的影响不容忽视。例如,18 个月大的孩子的预期行为与 4 岁的孩子或青少年不同。由于更多的生活经历,青少年可能能够坐得更久,对使用某些设备或物体有更多的经验,并且能够更熟练地进行日常生活活动(训练)。

b.如果是 小孩子,DSM-5 警告说,区分智力障碍和自闭症谱系障碍尤其困难。在很小的时候,可能很难甚至不可能确定社交沟通技能是否存在定量或定性问题(延迟与偏差),因为当孩子太小而无法发展多种技能时,异步发展概况更加微妙。

c.与上述相关, 区分何时出现症状但不满足标准 E 很重要。,包括无法确定症状是否存在、不存在或不适用的情况。例如,如果存在共济失调或运动失用症等运动障碍,导致儿童无法进行指向等定向随意运动,则将标准 E 定义为“不适用”可以更好地表达不满足诊断标准的原因。同样,对于尚未达到表现所需的发育水平的个体,可能无法判断某些症状是否存在,因此自闭症的症状可能会在晚些时候变得明显。

4. 在老年人中, 发展路径 可能特别有用。

临床医生必须具体评估社交沟通技能是否始终与其他发展领域成正比,或者有时它们是否是最重要的困难。同样重要的是要记住,自闭症谱系障碍的诊断可能会随着时间的推移而改变。例如,如上所述,在具有非常严重智力障碍的儿童能够发展到一定的同等心理年龄之前,可能无法判断他或她是否患有自闭症谱系障碍(ASD)。另一方面,在轻度或中度智力障碍的情况下,评估者在将 ASD 诊断分配给儿童期、青春期或成年后期时应谨慎。任何人(无论有或没有智力障碍)都不可能在幼儿期之后突然表现出社交沟通缺陷以及重复和刻板行为,这些行为足以达到 ASD 诊断的资格。如果在患有智力障碍的老年人中考虑这种可能性,则有必要考虑所发现的社交沟通困难是否不仅仅反映了由于智力障碍而导致的社交不成熟,或者是由于生活转变而导致的心理状态的潜在变化(例如,完成学业后社交接触减少)。

5.特定ASD筛查和诊断测试的应用。

尽管行政当局 ASD 筛查和诊断测试 虽然在多种情况下都非常有用,但评估者必须首先考虑缩放的后果和结果的解释。在临床和研究背景下,对于患有智力障碍、共济失调、最近开始行走、严重构音障碍或运动性失用以及严重视力或听力障碍的个体,结果的解释可能会受到显着限制。因此,尽管尝试依赖定量行为观察是积极的,但如果某种工具不适合个人的能力,那么使用某种工具可能会出现问题。

有趣的是,当特定的自闭症评估测试应用于 具有明确遗传综合征的个体,观察到高频率的自闭症特征,但尽管如此,自闭症谱系障碍的诊断假设从未被提出。例如,史密斯-马吉尼斯综合征(Smith-Magenis Syndrome)的自闭症发病率高达 90%,这是一种以严重智力障碍为特征并伴有多种先天性异常的疾病。大约 63% 的脆性 X 综合征患者(智力障碍的最常见原因之一)具有自闭症特征。大约 93% 的威廉姆斯-布勒伦综合征患者(一种以严重发育迟缓为特征的疾病)也表现出自闭症症状。

6. 当应用临床判断时, 评估者的偏见和动机 必须考虑在内。使用一个 多学科团队 对于允许多个观察者和观点非常有用。

对于拥有以下资格的临床医生 自闭症谱系障碍 (ASD) 初级培训,当面对患有某些医学、神经、运动或其他疾病的个人时,可能有必要寻求有意义的支持,而这些疾病在没有智力障碍的自闭症谱系障碍患者中不太常见。评估者必须意识到 标准化测试在不同人群中表现不同, 和 他们自己的偏见和特质,例如它们赋予某些分数或观察结果的相对权重,并不以相同的方式适用于所有人口群体。此外,评估者必须掌握有关被评估个人的社会历史的足够信息,包括与家庭、社会文化和现有社会支持相关的方面,以便评估主要照顾者对个人应对不同社会情况的能力的反应是否适当。

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Thurm A、Farmer C、Salzman E、Lord C、Bishop S。现状:区分智力障碍和自闭症谱系障碍。前精神病学[互联网]。 2019年[引用2021年7月9日];10.可从: https://www.frontiersin.org/articles/10.3389/fpsyt.2019.00526/full