男性 X 连锁肾上腺脑白质营养不良成人 MRI 正常时整体认知功能完整。
Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI.
机构信息
Department of neuropsychology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Department of Medical Psychology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, PO Box 22660, 1105, AZ, Amsterdam, The Netherlands.
出版信息
Orphanet J Rare Dis. 2019 Sep 14;14(1):217. doi: 10.1186/s13023-019-1184-4.
BACKGROUND
Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhancing) lesions on MRI cognitive function is considered spared, but some form of cognitive dysfunction may nevertheless be present. The aim of this cross-sectional study was to characterize cognitive functioning of ALD men with no or minimal MRI abnormalities, which will define cognitive functioning in this category of patients.
METHODS
A neuropsychological battery covering a broad range of cognitive domains, including language, verbal and non-verbal memory, visuoconstruction, executive functioning, and psychomotor speed, was used. Means and proportions of borderline and impaired T scores ≤36 were compared to the standardized norm group and a qualitative case-by-case analysis was performed for participants with T scores ≤36 within ≥2 domains. Patients with MRI abnormalities that were extensive (Loes score > 3) or showed enhancement post-contrast were excluded.
RESULTS
Thirty-three men participated (median age 44 years, range 19-71). Mean performance on verbal fluency was poorer in patients (45.70 ± 8.85 patients vs. 50 ± 10 standardized norm group, p = 0.009), as was the percentage of borderline and impaired scores on visuoconstruction (Beery VMI: 19% patients vs. 8% standardized norm group, p = 0.02; RCFT copy: 81% patients vs. 2% standardized norm group, p < 0.0005) and mental reaction time during a complex decision task (18% patients vs. 8% standardized norm group, p = 0.055). Moreover, 9/33 (27.3%) patients had T scores ≤36 within ≥2 domains.
CONCLUSIONS
Given the heterogeneous pattern of mostly borderline scores cognitive functioning seems not impaired in the vast majority of adult ALD males with no or minimal MRI abnormalities. However, borderline to impaired cognitive dysfunction was present in 27.3%, with the majority being borderline scores. Longitudinal studies will have to determine if this reflects early cerebral disease under the detection limit of MRI.
背景
患有遗传性过氧化物酶体疾病 X 连锁肾上腺脑白质营养不良（ALD）的男性有罹患脑部炎症性脱髓鞘病变的风险。在 MRI 上没有炎症（增强后）病变的情况下，认知功能被认为是未受影响的，但仍然可能存在某种形式的认知功能障碍。本横断面研究的目的是描述无或仅有轻微 MRI 异常的 ALD 男性的认知功能，这将定义此类患者的认知功能。
方法
使用涵盖广泛认知领域的神经心理学测试，包括语言、言语和非言语记忆、视觉构建、执行功能和运动速度，测试结果以 T 分数≤36 的边缘和受损分数的平均值和比例表示，并与标准化常模组进行比较，并对 T 分数≤36 的≥2 个领域的参与者进行定性个案分析。排除 MRI 异常广泛（Loes 评分>3）或增强后强化的患者。
结果
33 名男性参与了研究（中位年龄 44 岁，范围 19-71 岁）。患者在言语流畅性方面的平均表现较差（45.70±8.85 患者与 50±10 标准化常模组，p=0.009），在视觉构建方面的边缘和受损分数比例也较差（Beery VMI：19%患者与 8%标准化常模组，p=0.02；RCFT 复制：81%患者与 2%标准化常模组，p<0.0005），在复杂决策任务中的心理反应时间也较差（18%患者与 8%标准化常模组，p=0.055）。此外，33 名患者中有 9 名（27.3%）在≥2 个领域的 T 分数≤36。
结论
鉴于大多数为边缘分数的异质模式，在绝大多数无或仅有轻微 MRI 异常的成年 ALD 男性中，认知功能似乎未受损。然而，仍有 27.3%的患者存在边缘至受损的认知功能障碍，其中大多数为边缘分数。纵向研究将不得不确定这是否反映了 MRI 检测下限下的早期脑疾病。
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