Skip to main content
SpringerLink
Log in

Correlates of language impairment in children with galactosaemia

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

Purpose

This study describes risk factors associated with language impairment in children with classic galactosaemia.

Method

Thirty-three 4–16-year-old participants with classic galactosaemia and a history of speech sound disorders completed a battery of cognitive and language measures and their parents completed a family history questionnaire.

Results

Nine of the sixteen (56%) participants with typical cognitive development and 15 of the 17 (88%) with borderline-low cognitive development had language impairments. Participants with typical cognitive development more often had an expressive language disorder, whereas those with borderline-low cognitive development more often had a mixed receptive-expressive language disorder. Participants with Q188R/Q188R genotypes had increased risk for both cognitive and language impairments. The IQs of younger siblings who did not consume milk postnatally were 10–56 points higher than the IQs of their older siblings with galactosaemia who had consumed milk postnatally. However, 4 of 5 younger siblings who were lactose-restricted from birth had language impairments. Typically-reported risk factors for language disorder, including parental history of speech/learning problems and low parental education level, were not significantly associated with cognitive or language impairments in the present sample of children with galactosaemia.

Conclusions

Children with galactosaemia and speech disorders have a 4–6 times greater risk for language impairment than children with early speech disorders of unknown origin. Early dietary lactose may increase the risk for cognitive and language impairments; however, the lack of significant associations of language impairment with days of milk consumption, and other familial and educational risk factors, is consistent with prenatal causation.

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

Similar content being viewed by others

References

  • American Psychiatric Association (2000) Diagnostic and Statistical Manual of Mental Disorders, 4th edn-TR. Washington, DC: American Psychiatric Association.

    Google Scholar 

  • American Speech-Language-Hearing Association. (2007) Childhood Apraxia of Speech [Technical Report]. Available from www.asha.org/policy.

  • 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 

  • Bosch A (2006) Classical galactosaemia revisited. J Inherit Metab Dis, 29: 516–525.

    Article  PubMed  CAS  Google Scholar 

  • Campbell TF, Dollaghan CA, Rockette HE, et al (2003) Risk factors for speech delay of unknown origin in 3-year-old children. Child Dev 74, 346–357.

    Article  PubMed  Google Scholar 

  • Canivez GL, Neitzel R, Martin BE (2005) Construct validity of the Kaufman Brief Intelligence Test, Wechsler Intelligence Scale for Children – Third Edition. J Psychoed Assess 23: 15–34.

    Article  Google Scholar 

  • Carrow-Woolfolk E (1995) OWLS: Listening Comprehension Scale & Oral Expression Scale. Circle Pines, MN: AGS Publishing.

    Google Scholar 

  • Cleary MA, Heptinstall LE, Wraith JE, Walter JH (1995) Galactosaemia: relationship of IQ to biochemical control and genotype. J Inherit Metab Dis 18: 151–152.

    Article  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 

  • Grados JJ, Russo-Garcia KA (1999) Comparison of the Kaufman Brief Intelligence Test and the Wechsler Intelligence Scale for Children – Third Edition in economically disadvantaged African American youth. J Clin Psychol. 55(9):1063–1071.

    Article  PubMed  CAS  Google Scholar 

  • Holton JB (1995) Effects of galactosemia in utero. Eur J Pediatr, 154(Supplement 1): S77–S81.

    Article  PubMed  CAS  Google Scholar 

  • Kaufman AS, Kaufman NL (2004) Kaufman Brief Intelligence Test, Second Edition. Circle Pines, MN: AGS Publishing.

    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 Suppl 154: S2–S5.

    Article  CAS  Google Scholar 

  • Levinson EM, Folino L (1994) Correlation of scores on the Gifted Evaluation Scale with those on WISC-III and Kaufman Brief Intelligence Test for students referred for gifted evaluation. Psychol Rep 74: 419–424.

    PubMed  CAS  Google Scholar 

  • Lewis BA, Shriberg LD, Freebairn LA, et al (2006) The genetic bases of speech sound disorders: evidence from spoken and written language. J Speech Lang Hear Res 49: 1294–1312.

    Article  PubMed  Google Scholar 

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

    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 

  • Nelson D (1995) Verbal dyspraxia in children with galactosemia. Eur J Pediatr Suppl 154: S6–7.

    Article  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Segal S (1998) Komrower Lecture. Galactosaemia today: the enigma and the challenge. J Inherit Metab Dis, 21: 455–471.

    Article  PubMed  CAS  Google Scholar 

  • Segal S, Berry G (2001) Disorders of galactose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill. 967–1000.

    Google Scholar 

  • Semel E, Wiig EH, Secord, W (1987) Clinical Evaluation of Language Functioning – Revised. San Antonio, TX. Psychological Corporation.

    Google Scholar 

  • Shield J, Wadsworth E, MacDonald A, et al (2000) The relationship of genotype to cognitive outcome in galactosemia. Arch Dis Child, 83(3): 248–250.

    Article  PubMed  CAS  Google Scholar 

  • Shriberg LD, Tomblin JB, McSweeny JL (1999) Prevalence of speech delay in 6-year-old children and comorbidity with language impairment. J Speech Lang Hear Res 42: 1461–1481.

    PubMed  CAS  Google Scholar 

  • Tomblin B, Smith E, Zhang X (1997) Epidemiology of specific language impairment: prenatal and perinatal risk factors. JCommun Disord 30: 325–344.

    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 

  • Wechsler D (1991) Wechsler Intelligence Scale for Children –Third Edition. San Antonio, TX, Psychological Corporation.

    Google Scholar 

  • Wechsler D (2003) Wechsler Intelligence Scale for Children – Fourth Edition. San Antonio, TX, Psychological Corporation.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Speech and Hearing Sciences, Washington State University-Spokane, Spokane, Washington, USA

    N. L. Potter & J. M. Johnson

  2. Department of Kinesiology, University of Wisconsin-Madison, Madison, Wisconsin, USA

    J.-A. C. Lazarus

  3. Departments of Pediatrics and Molecular and Medical Genetics, Oregon Clinical and Translational Research Institute, Child Development and Rehabilitation Center, Doernbecher Children’s Hospital, Oregon Health & Science University, Portland, Oregon, USA

    R. D. Steiner

  4. Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA

    L. D. Shriberg

  5. PO Box 1495, Spokane, WA, 99210–1495, USA

    N. L. Potter

Authors
  1. N. L. Potter
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J.-A. C. Lazarus
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. M. Johnson
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. R. D. Steiner
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. L. D. Shriberg
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to N. L. Potter.

Additional information

Communicating editor: Peter Burgard

Competing interests: None declared

Rights and permissions

Reprints and permissions

About this article

Cite this article

Potter, N.L., Lazarus, JA.C., Johnson, J.M. et al. Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31, 524–532 (2008). https://doi.org/10.1007/s10545-008-0877-y

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-008-0877-y

Keywords

Search

Navigation