Deutsches Diabetes Zentrum, Abteilung Klinische Biochemie und Pathobiochemie, Auf'm Hennekamp 65, D-40225 Düsseldorf, Germany.
Pediatrics. 2010 Feb;125(2):e374-81. doi: 10.1542/peds.2008-3325. Epub 2010 Jan 25.
To conduct a longitudinal assessment of long-term cognitive outcome in patients with classical galactosemia.
Inclusion criteria were (1) previous assessment of IQ dating back >10 years with tests being comparable with the recent German tests HAWIK-III and HAWIE-R, (2) absence of illnesses other than galactosemia, (3) absence of foreign language problems, (4) enzymatic-metabolic proof of classical galactosemia, (5) compliance with dietary therapy, and (6) written informed consent. Twenty-three patients who fulfilled these criteria were found. They underwent the first IQ test at a mean age of 11 +/- 5 years and the second 13.6 to 15.5 years later at a mean age of 26 +/- 5 years. Results were corrected for the obsolescence of test norms (Flynn effect).
Mean total IQ scores on the first and second tests were 78 +/- 14 and 73 +/- 15, respectively, and not significantly different. IQ scores in the average range were observed for 7 patients on the first test and for 5 patients on the second test. For 17 patients, the intraindividual IQ scores remained essentially unchanged. Five patients showed a decrease and 1 an increase of the IQ score over time. No consistent pattern of change was found with respect to performance or verbal IQ subscores or in achievements in the individual subtest.
The results confirm the presence of reduced cognitive ability in classical galactosemia and present evidence for an absence of substantial galactosemia-induced aggravation of this impairment with increasing age, at least in patients from 4 to 40 years of age. It remains to be clarified whether a reduction of cognitive function in galactosemia may be initiated by an in utero toxicity of endogenously formed galactose and which role such a process may play in the development of intellectual deficiencies that are later maintained throughout life.
对经典型半乳糖血症患者的长期认知结局进行纵向评估。
纳入标准为（1）以前的智商评估时间超过 10 年，测试与最近的德国 HAWIK-III 和 HAWIE-R 测试可比，（2）除半乳糖血症外无其他疾病，（3）无外语问题，（4）有经典型半乳糖血症的酶代谢证据，（5）遵守饮食疗法，以及（6）书面知情同意。符合这些标准的 23 名患者被发现。他们在平均年龄 11 ± 5 岁时进行了第一次智商测试，然后在平均年龄 26 ± 5 岁时进行了第二次测试。结果进行了测试规范陈旧性校正（Flynn 效应）。
第一次和第二次测试的平均总智商得分分别为 78 ± 14 和 73 ± 15，无显著差异。第一次测试中有 7 名患者的智商得分处于平均范围，第二次测试中有 5 名患者的智商得分处于平均范围。对于 17 名患者，个体内智商得分基本保持不变。5 名患者的智商得分随时间下降，1 名患者智商得分上升。未发现个体亚测试的表现或言语智商子分数或成就有一致的变化模式。
这些结果证实了经典型半乳糖血症患者认知能力降低，并提供了证据表明，随着年龄的增长，这种损害不会因半乳糖血症而显著恶化，至少在 4 至 40 岁的患者中是如此。尚不清楚半乳糖血症中认知功能的降低是否可能是由内源性形成的半乳糖的宫内毒性引发的，以及这种过程在智力缺陷的发展中可能起什么作用，这些缺陷在以后的生活中一直存在。
