目的:先天性中枢通气不足综合征(CCHS)和下丘脑功能障碍的快速发作性肥胖,通气不足,自主神经失调(ROHHAD)是罕见的自主神经失调,有神经认知发育中断的风险。我们的目的是总结这些条件下神经认知结果的研究,提前了解如何在整个发展过程中最好地支持这些人,并促进未来的研究。
方法:我们对CCHS和ROHHAD的神经认知结果进行了叙述性综述,补充了我们儿科自主医学中心(CAMP)的CCHS和ROHHAD患者以前未发表的数据。
结果:患有CCHS和ROHHAD的个体经历了从高于平均水平到低于平均水平的广泛的神经认知功能,但工作记忆困难的风险特别大,处理速度,感知推理,和视觉技能。强调流体认知的评估框架似乎特别适合这些条件。由于小组人数少,数据收集方法多样,很难确定疾病因素(包括CCHSPHOX2B基因型)与认知结局之间的关联.然而,结果表明,幼儿期是一个特别脆弱的时期,可能是由于间歇性缺氧反复发作对大脑和认知发育的破坏性影响。
结论:建议将神经认知监测作为CCHS和ROHHAD常规临床护理的组成部分,作为疾病状态的标志,并确保尽早提供教育支持和残疾调整。协作努力对于获得增强我们对CCHS和ROHHAD神经认知结果的理解所需的样本至关重要。
OBJECTIVE: Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) are rare disorders of autonomic regulation with risk for disrupted neurocognitive development. Our aim is to summarize research on neurocognitive outcomes in these conditions, advance understanding of how to best support these individuals throughout development, and facilitate future research.
METHODS: We conducted a narrative review of literature on neurocognitive outcomes in CCHS and ROHHAD, supplemented with previously unpublished data from patients with CCHS and ROHHAD at our Center for Autonomic Medicine in Pediatrics (CAMP).
RESULTS: Individuals with CCHS and ROHHAD experience a wide range of neurocognitive functioning ranging from above average to below average, but are at particular risk for difficulties with working memory, processing speed, perceptual reasoning, and visuographic skills. An assessment framework emphasizing fluid cognition seems especially appropriate for these conditions. Owing to small cohorts and varied methods of data collection, it has been difficult to identify associations between disease factors (including CCHS PHOX2B genotypes) and cognitive outcomes. However, results suggest that early childhood is a period of particular vulnerability, perhaps due to the disruptive impact of recurrent intermittent hypoxic episodes on brain and cognitive development.
CONCLUSIONS: Neurocognitive monitoring is recommended as a component of routine clinical care in CCHS and ROHHAD as a marker of disease status and to ensure that educational support and disability accommodations are provided as early as possible. Collaborative efforts will be essential to obtain samples needed to enhance our understanding of neurocognitive outcomes in CCHS and ROHHAD.