The long-term consequences and need for therapy in children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) identified via newborn screening (NBS) remains controversial. Initial clinical descriptions were severe; however, while most cases identified through NBS have remained asymptomatic, clinical concerns have been raised in these populations. It is not clear whether these children are asymptomatic because of the success of NBS, or because the normal clinical course of these disorders is relatively benign. To evaluate these possibilities in our program, we evaluated the clinical outcomes of children with SCADD or IBDD identified by the Georgia NBS compared to the health status of a healthy age-matched control group. We also assessed parental anxiety during a phone interview both subjectively and objectively using the Pediatric Inventory for Parents (PIP), a validated measure of illness-related parental stress. The general health of 52 SCADD and nine IBDD cases from 2007 to 2016 were compared to the general health of unaffected control children obtained through the Centers for Disease Control and Prevention (CDC) parent listserv. We also collected statements from parents who participated in a phone survey regarding events they experienced during and after their diagnostic process. Overall, the children with SCADD and IBDD had no major health problems. There was no significant difference in cognitive development (p = .207). We identified a slightly higher incidence of reported neonatal hypoglycemia in the SCADD group; two of these occurred in the context of maternal diabetes. All interviewed parents reported extreme anxiety during the diagnostic period and current feelings of uncertainty about their child's future. PIP scores for all six caregivers who responded to that portion of the survey were consistent with some degree of parental stress. The greatest reported stressor was the unknown long-term impact of the illness. All children with SCADD and IBDD had no significant long-term sequelae. The phone interviews revealed substantial parental anxiety about the identification and follow-up of SCADD and IBDD. Based on our findings, the anxiety parents experience may be unwarranted given that we see no disease-associated morbidity or mortality in these children. Consideration should be given to the removal of these conditions from NBS panels, or if that is not possible, clinicians could educate parents on the benign nature of these diagnoses and release them from follow-up without treatment.

中文翻译：

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父母焦虑症的增加和临床过程的良性发展：乔治亚州的新生儿筛查发现婴儿患有短链酰基辅酶A脱氢酶缺乏症和异丁酰辅酶A脱氢酶缺乏症。

通过新生儿筛查（NBS）确定的患有短链酰基辅酶A脱氢酶缺乏症（SCADD）或异丁酰辅酶A脱氢酶缺乏症（IBDD）的儿童的长期后果和治疗需求仍存在争议。最初的临床描述很严重。然而，尽管通过国家统计局确定的大多数病例仍无症状，但这些人群的临床表现仍令人担忧。目前尚不清楚这些儿童是否无症状是由于NBS的成功，还是因为这些疾病的正常临床过程是相对良性的。为了在我们的计划中评估这些可能性，我们评估了佐治亚州国家统计局确定的SCADD或IBDD儿童的临床结局，并将其与健康的年龄匹配对照组的健康状况进行了比较。我们还在电话采访中使用父母的儿科病历（PIP）对父母的焦虑进行了主观和客观评估，这是一种与疾病相关的父母压力的经过验证的度量。将2007年至2016年的52例SCADD和9例IBDD病例的总体健康状况与通过疾病控制与预防中心（CDC）父母名单服务获得的未患病对照儿童的总体健康状况进行了比较。我们还从参加电话调查的父母那里收集了有关他们在诊断过程中和诊断过程中经历的事件的陈述。总体而言，患有SCADD和IBDD的儿童没有严重的健康问题。认知发展没有显着差异（p = .207）。我们在SCADD组中发现了所报告的新生儿低血糖的发生率略高。其中两个发生在孕产妇糖尿病的背景下。所有接受采访的父母都报告了在诊断期间的极度焦虑，以及目前对孩子未来的不确定感。回答调查那部分的所有六名保姆的PIP分数与一定程度的父母压力相吻合。报道的最大压力源是未知的长期疾病影响。所有患有SCADD和IBDD的儿童均无明显的长期后遗症。电话采访显示，父母对SCADD和IBDD的识别和随访存在极大的焦虑。根据我们的发现，鉴于我们没有看到这些儿童的疾病相关发病率或死亡率，因此父母的焦虑情绪可能没有根据。应该考虑从NBS面板中删除这些条件，