title: Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia.
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To evaluate speech and cognitive performance in patients with galactosemia.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of General Pediatrics, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Siegen, Germany. mail@kinderarzt-hoffmann.de
authors.forename: Björn
authors.initials: B
authors.lastname: Hoffmann
authors.forename: Udo
authors.initials: U
authors.lastname: Wendel
authors.forename: Susanne
authors.initials: S
authors.lastname: Schweitzer-Krantz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003072:Cognition Disorders / Q000150:complications / Q000175:diagnosis*; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D005260:Female; D005693:Galactosemias / Q000150:complications / Q000175:diagnosis*; D005858:Germany; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D010700:Phonetics; D015203:Reproducibility of Results; D013060:Speech; D013064:Speech Disorders / Q000150:complications / Q000175:diagnosis