无神经系统症状的X连锁肾上腺白质营养不良男孩的认知功能评估  

Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy

作　　者：Cox C.S Dubey P Raymond G.V H.W. Moser 李一明 

机构地区：[1]Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, United States,Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第5期19-20,共2页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Background: 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. Objective: To describe the cognitive profile of 52 neurologically asymptomatic boys with X-linked adrenoleukodystrophy (mean± SD age, 6.7± 3.6 years). Methods: 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 ageappropriate 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. Results: 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. Conclusions: 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.Background： Various studies have demonstrated abnormal neuropsychological function in boys with the childhood cerebral phenotype of X-linked adrenoleukodystrephy. Not much is known about the cognitive function of neurologically a,symptomatic boys with X-linked adrenoleukodystrophy who have normal brain magnetic resonance imaging results. Objective： To describe the cognitive profile of 52 neurologically asymptomatic boys with X-linked adrenoleukodystrophy （mean±SD age, 6.7 ±3.6 years） . Methods： 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 ageappropriate 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. Results： 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. Conclusions： 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.

关 键 词：肾上腺白质营养不良 神经系统症状 认知功能 X连锁 男孩 功能评估 神经心理测试 社会经济地位 磁共振成像检查 年龄相关 

分 类 号：R446.112[医药卫生—诊断学] R722.12[医药卫生—临床医学]