PDF(Pubmed)
Abstract：
It is the current consensus amongst the psychiatric community that children undergoing evaluation for developmental delays and/or autism spectrum disorder (ASD) should be offered genetic testing early in the diagnostic process. Identifying genetic abnormalities can provide insight into patient prognosis and may reveal other medical complications that could arise throughout a patient\'s life. Despite these recognized benefits, genetic testing is often delayed or not offered and therefore deprives families of valuable knowledge about their child\'s future health outcomes. We present a case of a six-year-old patient who presented to our child and adolescent psychiatry office for behavioral concerns. She had received an ASD diagnosis years prior to presentation, but for unknown reasons, genetic testing had never been pursued. Genetic testing was obtained in our office, and the results revealed three different mutations that were linked to ASD and various other medical complications including epilepsy. With this knowledge, the patient\'s family gained important insight into their child\'s prognosis. This case highlights the necessity for adopting a point-of-care testing (POCT) model when evaluating children with developmental delays and/or ASD. Through this model, genetic testing would be offered to families during the initial visit for these patients. This would help streamline this process and allow for more widespread detection of genetic disorders linked to ASD and coexisting medical sequelae. Having this knowledge would empower families with a better understanding of their child\'s condition and would allow families to work together with providers to determine the best possible treatment plan.
摘要：
目前，精神病学界的共识是，接受发育迟缓和/或自闭症谱系障碍（ASD）评估的儿童应在诊断过程的早期进行基因检测。识别遗传异常可以提供对患者预后的了解，并可能揭示可能在患者一生中出现的其他医学并发症。尽管有这些公认的好处，基因检测通常被延迟或不提供，因此剥夺了家庭对孩子未来健康结果的宝贵知识。我们介绍了一例6岁的患者，他向我们的儿童和青少年精神病学办公室提出了行为问题。她在就诊前几年接受了ASD诊断，但由于未知的原因,从未进行过基因检测。基因检测是在我们办公室进行的,结果显示，三种不同的突变与ASD和包括癫痫在内的各种其他医学并发症有关。有了这些知识,患者的家人对孩子的预后有了重要的了解。此案例强调了在评估发育迟缓和/或ASD儿童时采用即时测试（POCT）模型的必要性。通过这个模型,在这些患者的初次就诊期间，将向家庭提供基因检测。这将有助于简化这一过程，并允许更广泛地检测与ASD和共存的医学后遗症相关的遗传疾病。拥有这些知识将使家庭更好地了解孩子的状况，并允许家庭与提供者一起确定最佳治疗计划。
