Skip to main content
SpringerLink
Log in

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

  • GALACTOSEMIA
  • Published:
Journal of Inherited Metabolic Disease

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.

Conclusion

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Abbreviations

AOS:

Apraxia of speech

FSIQ:

Full scale intelligence quotient

PIQ:

Performance intelligence quotient

VIQ:

Verbal intelligence quotient

GALT:

Galactose-1-phosphate uridyltransferase

References

  • Ad Hoc Committee on Childhood Apraxia of Speech of the American Speech-Language-Hearing Association (2007) Childhood apraxia of speech: position statement. American Speech-Language-Hearing Association, Rockville, MD

  • Antshel KM, Epstein IO, Waisbren SE (2004) Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 18:658–664

    Article  PubMed  Google Scholar 

  • Badawi N, Cahalane SF, McDonald M, Mulhair P, Begi B, O'Donohue A, Naughten E (1996) Galactosaemia—a controversial disorder. Screening & outcome. Ireland 1972–1992. Ir Med J 89:16–17

    PubMed  CAS  Google Scholar 

  • Fishler K, Koch R, Donnell GN, Wenz E (1980) Developmental aspects of galactosemia from infancy to childhood. Clin Pediatr 19:38–44

    Article  CAS  Google Scholar 

  • Flynn JR (1987) Massive IQ gains in 14 nations: what IQ tests really measure. Psychol Bull 101:171–191

    Article  Google Scholar 

  • Forges T, Monnier-Barbarino P, Leheup B, Jouvet P (2006) Pathophysiology of impaired ovarian function in galactosaemia. Hum Reprod Update 12:573–584

    Article  PubMed  CAS  Google Scholar 

  • Friedman JH, Levy HL, Boustany RM (1989) Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology 39:741–742

    PubMed  CAS  Google Scholar 

  • Hansen TW, Henrichsen B, Rasmussen RK, Carling A, Andressen AB, Skjeldal O (1996) Neuropsychological and linguistic follow-up studies of children with galactosaemia from an unscreened population. Acta Paediatr 85:1197–1201

    Article  PubMed  CAS  Google Scholar 

  • Jan JE, Wilson RA (1973) Unusual late neurological sequelae in galactosaemia. Dev Med Child Neurol 15:72–74

    Article  PubMed  CAS  Google Scholar 

  • Kaufman F, Kogut MD, Donnell GN, Koch H, Goebelsmann U (1979) Ovarian failure in galactosaemia. Lancet 2:737–738

    Article  PubMed  CAS  Google Scholar 

  • Kaufman FR, Reichardt JK, Ng WG et al (1994) Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 125:225–227

    Article  PubMed  CAS  Google Scholar 

  • Kaufman FR, McBride-Chang C, Manis FR, Wolff JA, Nelson MD (1995) Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur J Pediatr 154:S2–S5

    Article  PubMed  CAS  Google Scholar 

  • Koch TK, Schmidt KA, Wagstaff JE, Ng WG, Packman S (1992) Neurologic complications in galactosemia. Pediatr Neurol 8:217–220

    Article  PubMed  CAS  Google Scholar 

  • Komrower GM, Lee DH (1970) Long-term follow-up of galactosaemia. Arch Dis Child 45:367–373

    Article  PubMed  CAS  Google Scholar 

  • Liepold M (1998) Hierarchische Wortlisten. Ein Nachsprechtest für die Sprechdiagnostik. Verlag Modernes Lernen, Dortmund

  • Liu G, Hale GE, Hughes CL (2000) Galactose metabolism and ovarian toxicity. Reprod Toxicol 14:377–384

    Article  PubMed  CAS  Google Scholar 

  • Manis FR, Cohn LB, McBride-Chang C, Wolff JA, Kaufman FR (1997) A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine. J Inherit Metab Dis 20:549–555

    Article  PubMed  CAS  Google Scholar 

  • Nelson D (1995) Verbal dyspraxia in children with galactosemia. Eur J Pediatr 154:S6–S7

    Article  PubMed  CAS  Google Scholar 

  • Nelson CD, Waggoner DD, Donnell GN, Tuerck JM, Buist NR (1991) Verbal dyspraxia in treated galactosemia. Pediatrics 88:346–350

    PubMed  CAS  Google Scholar 

  • Panis B, Forget PP, Van Kroonenburgh MJ et al (2004) Bone metabolism in galactosemia. Bone 35:982–987

    Article  PubMed  CAS  Google Scholar 

  • Potter NL, Lazarus JA, Johnson JM, Steiner RD, Shriberg LD (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31:524–532

    Article  PubMed  CAS  Google Scholar 

  • Robertson A, Singh RH (2000) Outcomes analysis of verbal dyspraxia in classic galactosemia. Genet Med 2:142–148

    Article  PubMed  CAS  Google Scholar 

  • Satzger W, Dragon E, Engel R (1996) Zur Normäquivalenz von HAWIE-R und HAWIE. Diagnostica 43:119–138

    Google Scholar 

  • Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U (2010) Longitudinal assessment of intellectual achievement in patients with classical galactosaemia. Pediatrics 125:e374–e381

    Article  PubMed  Google Scholar 

  • Schallberger U (1987) HAWIK und HAWIK-R: ein empirischer Vergleich. Diagnostica 33:1–13

    Google Scholar 

  • Scheibenreiter S, Knoll E, Widhalm K (1992) Long-term results in children with classical galactosemia. Wien Klin Wochenschr 104:514–517

    PubMed  CAS  Google Scholar 

  • Schweitzer S, Shin Y, Jakobs C, Brodehl J (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152:36–43

    Article  PubMed  CAS  Google Scholar 

  • Shield JP, Wadsworth EJ, MacDonald A et al (2000) The relationship of genotype to cognitive outcome in galactosaemia. Arch Dis Child 83:248–250

    Article  PubMed  CAS  Google Scholar 

  • Shriberg LD, Aram DM, Kwiatkowski J (1997) Developmental apraxia of speech: I. descriptive and theoretical perspectives. J Speech Lang Hear Res 40:273–285

    PubMed  CAS  Google Scholar 

  • Smith I, Beasley MG, Ades AE (1990) Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65:472–478

    Article  PubMed  CAS  Google Scholar 

  • Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13:802–818

    Article  PubMed  CAS  Google Scholar 

  • Waisbren SE, Norman TR, Schnell RR, Levy HL (1983) Speech and language deficits in early-treated children with galactosemia. J Pediatr 102:75–77

    Article  PubMed  CAS  Google Scholar 

  • Webb AL, Singh RH, Kennedy MJ, Elsas LJ (2003) Verbal dyspraxia and galactosemia. Pediatr Res 53:396–402

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

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.

Author information

Authors and Affiliations

  1. Department of General Pediatrics, University Children’s Hospital, Heinrich-Heine-University Düsseldorf, Siegen, Germany

    Björn Hoffmann & Udo Wendel

  2. DRK Children’s Hospital Siegen, Wellersbergstr. 66, 57072, Siegen, Germany

    Björn Hoffmann

  3. Evangelisches Krankenhaus Düsseldorf, Düsseldorf, Germany

    Susanne Schweitzer-Krantz

Authors
  1. Björn Hoffmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Udo Wendel
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Susanne Schweitzer-Krantz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Björn Hoffmann.

Additional information

Communicated by: Peter Burgard

Competing interests: None declared

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hoffmann, B., Wendel, U. & Schweitzer-Krantz, S. Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis 34, 421–427 (2011). https://doi.org/10.1007/s10545-011-9297-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-011-9297-5

Keywords

Search

Navigation