Journal of Inherited Metabolic Disease

, Volume 34, Issue 2, pp 421–427 | Cite as

Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia

  • Björn Hoffmann
  • Udo Wendel
  • Susanne Schweitzer-Krantz



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.


Apraxia Real Word Full Scale Intelligence Quotient Galactosemia Speech Impairment 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Apraxia of speech


Full scale intelligence quotient


Performance intelligence quotient


Verbal intelligence quotient


Galactose-1-phosphate uridyltransferase



This study was supported by a grant of the Sanitätsrat Dr. Emil Alexander Huebner und Frau Gemahlin-Stiftung. The sponsor had no role in planning, conducting, or analyzing the study. We are indebted to the patients with galactosemia who participated in this study. W. Angerstein and N. Hoffmüller kindly reviewed the manuscript and gave advice regarding diagnosis and definition of apraxia of speech. M. Schimeczek provided information regarding interpretation of the Hierarchische Wortlisten.


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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Björn Hoffmann
    • 1
    • 2
  • Udo Wendel
    • 1
  • Susanne Schweitzer-Krantz
    • 3
  1. 1.Department of General PediatricsUniversity Children’s Hospital, Heinrich-Heine-University DüsseldorfSiegenGermany
  2. 2.DRK Children’s Hospital SiegenSiegenGermany
  3. 3.Evangelisches Krankenhaus DüsseldorfDüsseldorfGermany

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