Cox Christiane S, Dubey Prachi, Raymond Gerald V, Mahmood Asif, Moser Ann B, Moser Hugo W
Kennedy Krieger Institute, The Johns Hopkins University, Baltimore, MD 21205, USA.
Arch Neurol. 2006 Jan;63(1):69-73. doi: 10.1001/archneur.63.1.69.
Various studies have demonstrated abnormal neuropsychological function in boys with the childhood cerebral phenotype of X-linked adrenoleukodystrophy. Not much is known about the cognitive function of neurologically asymptomatic boys with X-linked adrenoleukodystrophy who have normal brain magnetic resonance imaging results.
To describe the cognitive profile of 52 neurologically asymptomatic boys with X-linked adrenoleukodystrophy (mean +/- SD age, 6.7 +/- 3.6 years).
Neuropsychological tests included evaluation of IQ (full-scale IQ, verbal IQ, and performance IQ), 5 major cognitive domains (language, visuospatial skills, perception, visuomotor or graphomotor skills, memory, and attention or executive function), adaptive skills, and academic achievement. Standardized z scores relative to age-appropriate published norms were generated. Association between age and cognitive performance was evaluated using nonparametric Spearman rank correlation and robust median regression adjusting for full-scale IQ and socioeconomic status.
All but 4 patients had normal cognitive function. There was a negative correlation between age and visual perception as well as age and visuomotor skills after adjustment for full-scale IQ and socioeconomic status.
This study provides, to our knowledge, the first evidence of overall normal cognitive function in neurologically and radiologically normal boys with X-linked adrenoleukodystrophy, indicating no evidence of neurodevelopmental abnormalities despite the inherent ABCD1 mutation. Subtle deterioration with age was observed in some functional domains. This suggests that prevention and timely institution of therapy can potentially preserve cognitive function seen in patients with the cerebral X-linked adrenoleukodystrophy phenotype. X-linked adrenoleukodystrophy should be considered a candidate disorder for neonatal screening.
多项研究表明，患有X连锁肾上腺脑白质营养不良儿童脑型的男孩存在神经心理功能异常。对于脑磁共振成像结果正常的X连锁肾上腺脑白质营养不良且无神经系统症状的男孩的认知功能了解甚少。
描述52名无神经系统症状的X连锁肾上腺脑白质营养不良男孩（平均±标准差年龄，6.7±3.6岁）的认知概况。
神经心理学测试包括智商评估（全量表智商、言语智商和操作智商）、5个主要认知领域（语言、视觉空间技能、感知、视动或书写运动技能、记忆以及注意力或执行功能）、适应技能和学业成绩。生成相对于适合年龄的已发表常模的标准化z分数。使用非参数Spearman等级相关性和校正全量表智商和社会经济地位的稳健中位数回归评估年龄与认知表现之间的关联。
除4名患者外，所有患者的认知功能均正常。在校正全量表智商和社会经济地位后，年龄与视觉感知以及年龄与视动技能之间存在负相关。
据我们所知，本研究首次证明了X连锁肾上腺脑白质营养不良且神经和影像学正常的男孩总体认知功能正常，表明尽管存在固有的ABCD1突变，但没有神经发育异常的证据。在某些功能领域观察到随年龄增长有细微恶化。这表明预防和及时进行治疗可能会保留患有脑型X连锁肾上腺脑白质营养不良表型患者的认知功能。X连锁肾上腺脑白质营养不良应被视为新生儿筛查的候选疾病。
