Al-Beltagi Mohammed
Department of Pediatric, Faculty of Medicine, Tanta University, Tanta 31511, Algahrbia, Egypt.
Department of Pediatric, University Medical Center, King Abdulla Medical City, Arabian Gulf University, Dr. Sulaiman Al Habib Medical Group, Manama 26671, Manama, Bahrain.
World J Clin Pediatr. 2023 Dec 9;12(5):273-294. doi: 10.5409/wjcp.v12.i5.273.
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.
自闭症，也称为自闭症谱系障碍，是一种复杂的神经发育障碍，通常在儿童生命的头三年被诊断出来。它具有一系列症状，可在任何年龄被诊断，包括青春期和成年期。然而，早期诊断对于有效管理、预后和护理至关重要。不幸的是，目前尚无针对自闭症的既定胎儿、产前或新生儿筛查项目，这使得早期检测变得困难。本综述旨在阐明在我们称之为“自闭症前期”（此时典型症状尚不明显）的阶段，自闭症在产前、出生时及生命早期的早期检测情况。一些胎儿、新生儿和婴儿生物标志物可能预示即将出生的婴儿患自闭症的风险增加。通过开发一种生物标志物阵列，我们可以创建一种客观的诊断工具，用于诊断每个患者的自闭症并对其严重程度进行排名。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、身体测量或放射学标志物。然而，每种生物标志物都有其准确性和局限性。几个因素会使自闭症的早期检测成为一项真正的挑战。为了改善早期检测，我们需要克服各种挑战，例如提高社区对自闭症早期迹象的认识、改善诊断工具的可及性、减少与自闭症诊断相关的污名化，以及处理与该疾病相关的各种文化敏感概念。
