Murdoch Children's Research Institute, Australian Centre for Child Neuropsychological Studies, Melbourne, Australia.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S327-34. doi: 10.1007/s10545-009-1284-8. Epub 2009 Oct 15.
Cobalamin C (cblC) disease, an inborn error of vitamin B(12) metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is known of the long-term effects of the disorder on cognition and behaviour in children. Here, the complete neuropsychological profiles of two 12-year-old girls with cblC disease are presented. The two girls were tested longitudinally with standardized neuropsychological tests including intellectual ability, attention and memory, as well as executive, adaptive and behavioural function. The results indicate the presence of intellectual dysfunction, attention problems, and concerns with behavioural aspects of executive function. Both patients demonstrated a pattern of decreasing intellectual function over time, which may reflect a growing developmental gap in comparison with their same age peers. These impairments are in contrast to the relatively spared verbal expression and comprehension abilities, as well as strengths in sociability. The findings highlight a pattern of neuropsychological strengths and weaknesses that may distinguish cblC disease from other inborn errors of metabolism. Overt sociability such as observed in these two patients may actually mask underlying cognitive deficits because the patients appear to function at a more advanced level than that reflected by quantitative assessment of intellectual and cognitive functioning. This is of clinical and functional importance and suggests that accurate determination of cognitive, adaptive and social abilities necessitates an in-depth and broad evaluation. The presence of significant intellectual and cognitive deficits also underscores the need to document and monitor cognitive development in children with cblC disease and to consider remediative and adaptive learning strategies.
钴胺素 C（cblC）病是一种先天性维生素 B(12)代谢错误，会导致神经代谢、神经化学和神经解剖变化。对于该疾病对儿童认知和行为的长期影响知之甚少。在这里，我们呈现了两名患有 cblC 病的 12 岁女孩的完整神经心理学特征。这两名女孩接受了标准化神经心理学测试的纵向测试，包括智力能力、注意力和记忆力，以及执行、适应和行为功能。结果表明存在智力功能障碍、注意力问题以及执行功能的行为方面的问题。两名患者的智力功能随着时间的推移逐渐下降，这可能反映出与同龄人的发展差距越来越大。这些损伤与相对保留的言语表达和理解能力以及社交能力的优势形成对比。这些发现强调了一种神经心理学上的优势和劣势模式，这可能将 cblC 病与其他先天性代谢错误区分开来。就像在这两名患者中观察到的那样，明显的社交能力实际上可能掩盖了潜在的认知缺陷，因为患者的表现似乎比智力和认知功能的定量评估所反映的更先进。这具有临床和功能重要性，表明准确确定认知、适应和社会能力需要进行深入和广泛的评估。存在明显的智力和认知缺陷也强调了有必要记录和监测患有 cblC 病的儿童的认知发展，并考虑补救和适应性学习策略。
