Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Siegen, Germany.
J Inherit Metab Dis. 2011 Apr;34(2):421-7. doi: 10.1007/s10545-011-9297-5. Epub 2011 Feb 24.
Long-term outcome in classic galactosemia is disappointing with impaired IQ, reduced bone mineral density, and fertility problems. Moreover, speech impairment is common with conflicting reports regarding frequency, pattern, and relation to IQ.
To evaluate speech and cognitive performance in patients with galactosemia.
Speech performance was evaluated by means of the Hierarchische Wortlisten, a German word-repetition test for the diagnosis of apraxia of speech, using real words and pseudo-words. Cognitive performance was evaluated by use of age-appropriate German versions of the Wechsler Scales.
In a cohort of 32 patients (12 females, 20 males; mean age 21.2 ± 7.2 years) with classic galactosemia, the mean IQ was 76.2 ± 14.8. Eighty-four percent of the patients passed the speech test with errors. Speech errors were much more related to pseudo-words than real words and were predominantly observed in words with three and four syllables. The performance in producing words was correlated to the IQ scores.
Impairment of speech affects a significant number of patients with galactosemia, appears in early childhood, and persists into adulthood. The pattern of speech impairment may allow labeling as apraxia of speech. In many cases impaired speech is related to decreased IQ.
经典型半乳糖血症的长期预后较差，患者存在智商受损、骨密度降低和生育问题。此外，言语障碍很常见，但其发生频率、模式及与智商的关系存在争议。
评估半乳糖血症患者的言语和认知表现。
采用 Hierarchische Wortlisten 评估言语表现，该方法使用真实词和假词，是一种用于诊断构音障碍的德语单词重复测试。认知表现采用适合年龄的德语韦氏量表进行评估。
在经典型半乳糖血症患者队列中（12 名女性，20 名男性；平均年龄 21.2 ± 7.2 岁），平均智商为 76.2 ± 14.8。84%的患者通过了言语测试，但存在错误。言语错误与假词的关系比真实词更密切，且主要发生在有三个和四个音节的单词中。单词发音的表现与智商得分相关。
言语障碍影响了大量半乳糖血症患者，在儿童早期出现，并持续到成年期。言语障碍的模式可能表明存在构音障碍。在许多情况下，言语障碍与智商下降有关。
