自闭症前期:儿科医生应了解的自闭症早期诊断知识

Mohammed Al-Beltagi
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引用次数: 0

摘要

自闭症,也被称为自闭症谱系障碍,是一种复杂的神经发育障碍,通常在儿童生命的前三岁被诊断出来。它具有一系列症状特征,可以在任何年龄诊断,包括青春期和成年期。然而,早期诊断对于有效的管理、预后和护理至关重要。不幸的是,目前还没有建立起针对自闭症的胎儿、产前或新生儿筛查项目,这使得早期发现变得困难。这篇综述的目的是阐明自闭症在出生前、出生时和生命早期的早期检测,在一个我们称之为“前自闭症”的阶段,典型的症状还不明显。一些胎儿、新生儿和婴儿的生物标志物可以预测即将出生的婴儿患自闭症的风险增加。通过开发生物标记阵列,我们可以创建一个客观的诊断工具,对每个患者的自闭症严重程度进行诊断和排序。这些生物标志物可以是遗传、免疫、激素、代谢、氨基酸、急性期反应物、新生儿脑干功能生物物理活动、行为特征、身体测量或放射标志物。然而,每种生物标志物都有其准确性和局限性。有几个因素会使早期发现自闭症成为一项真正的挑战。为了改善早期发现,我们需要克服各种挑战,例如提高社区对自闭症早期症状的认识,改善获得诊断工具的机会,减少与自闭症诊断相关的污名,以及解决与该疾病相关的各种文化敏感概念。
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Pre-autism: What a paediatrician should know about early diagnosis of autism‎
Autism, also known as an autism spectrum disorder, is a complex neurodevelopmental disorder usually diagnosed in the first three years of a child's life. A range of symptoms characterizes it and can be diagnosed at any age, including adolescence and adulthood. However, early diagnosis is crucial for effective management, prognosis, and care. Unfortunately, there are no established fetal, prenatal, or newborn screening programs for autism, making early detection difficult. This review aims to shed light on the early detection of autism prenatally, natally, and early in life, during a stage we call as “pre-autism” when typical symptoms are not yet apparent. Some fetal, neonatal, and infant biomarkers may predict an increased risk of autism in the coming baby. By developing a biomarker array, we can create an objective diagnostic tool to diagnose and rank the severity of autism for each patient. These biomarkers could be genetic, immunological, hormonal, metabolic, amino acids, acute phase reactants, neonatal brainstem function biophysical activity, behavioral profile, body measurements, or radiological markers. However, every biomarker has its accuracy and limitations. Several factors can make early detection of autism a real challenge. To improve early detection, we need to overcome various challenges, such as raising community awareness of early signs of autism, improving access to diagnostic tools, reducing the stigma attached to the diagnosis of autism, and addressing various culturally sensitive concepts related to the disorder.
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