Zachor Ditza Antebi
Harefuah. 2012 Mar;151(3):162-4, 189.
Autism spectrum disorders [ASD] are complex neurobehavioraL disorders defined by social and communication deficits and repetitive and stereotyped behaviors. The current estimated prevalence of ASD is approximately 1:100, which reflects a 15-fold increase from studies published a half-century ago. ASD is a highly heritable disorder, however, the exact cause of ASD is still unknown. ASD is associated with altered functional and structural connectivity patterns in the frontal and temporo-limbic brain regions that occur early in life. It is now believed that environmental factors may modulate phenotypical expression of ASD that are associated with the genetic predisposition. Several possible risk factors for ASD were investigated and included advanced parental age, birth complications, prematurity, Low birth weight and assisted conception. Numerous epidemioLogical reports have failed to confirm any association between immunizations and MMR specifically or thimerosaL exposure and risk for ASD. The diagnosis of ASD can be reLiably made in the second year of Life and appears to be relatively stable over time. However, diagnosis of very young children can be quite complex due to their clinical heterogeneity and varying patterns of onset that can differ from the typical autism symptoms of an older child. It is further challenging to distinguish between developmental and/or speech delay and ASD at this early age. Standardized tests for ASD diagnosis, developmental level and adaptive skiLls have been successfully used for accurate diagnosis of ASD. Research has recently focused on possible basic measures and/or biological markers that can assist with early diagnosis of ASD. Recent studies suggest that substantial gains can be achieved by intensive behavioral intervention initiated prior to 24 months, as neural plasticity is increased and chaLLenging behaviors are less prominent. Effective early intervention should begin soon after the diagnosis is made, and be individualized, intensive, and comprehensive and should include parent education, and behavioral intervention. It is highly important for pediatricians and experts in child neurology, development and child psychiatry to recognize the early signs of ASD, diagnostic tools and effective intervention methods.
自闭症谱系障碍(ASD)是一种复杂的神经行为障碍,其特征为社交和沟通缺陷以及重复刻板行为。目前估计ASD的患病率约为1:100,这相较于半个世纪前发表的研究结果增长了15倍。ASD是一种高度可遗传的疾病,然而,其确切病因仍然未知。ASD与生命早期发生的额叶和颞叶-边缘脑区功能和结构连接模式改变有关。现在认为,环境因素可能会调节与遗传易感性相关的ASD表型表达。研究了几种可能的ASD风险因素,包括父母年龄较大、出生并发症、早产、低出生体重和辅助受孕。大量流行病学报告未能证实免疫接种(特别是麻疹、腮腺炎和风疹疫苗接种,MMR)或硫柳汞暴露与ASD风险之间存在任何关联。ASD的诊断在生命的第二年即可可靠地做出,并且随着时间的推移似乎相对稳定。然而,由于幼儿的临床异质性和不同的起病模式,可能与大龄儿童的典型自闭症症状不同,因此对幼儿的诊断可能相当复杂。在这个早期阶段,区分发育和/或语言迟缓与ASD更是具有挑战性。用于ASD诊断、发育水平和适应技能的标准化测试已成功用于ASD的准确诊断。最近的研究集中在可能有助于ASD早期诊断的基本措施和/或生物标志物上。最近的研究表明,在24个月之前开始强化行为干预可以取得显著成效,因为此时神经可塑性增加,具有挑战性的行为不太突出。有效的早期干预应在诊断后尽快开始,并且应个性化、强化和全面,应包括家长教育和行为干预。对于儿科医生以及儿童神经学、发育和儿童精神病学专家来说,认识ASD的早期迹象、诊断工具和有效干预方法非常重要。