Motor and Speech Disorders in Classic Galactosemia

  • Nancy L. PotterEmail author
  • Yves Nievergelt
  • Lawrence D. Shriberg
Research Report
Part of the JIMD Reports book series (JIMD, volume 11)


Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders.

Method This is a case–control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4–16 years. Speech was assessed using the Percentage of Consonants Correct (PCC) metric from responses to the Goldman-Fristoe Test of Articulation-2 and from a 5-min recorded speech sample, hand and tongue strength using the Iowa Oral Performance Instrument, and coordination using the Movement Assessment Battery for Children. The number of days on milk during the neonatal period was obtained by parent report. Analyses of covariance, distributions, and correlations were used to evaluate relationships among speech, strength, coordination, age, gender, and days on milk.

Results Children with galactosemia had weaker hand and tongue strength and most (66%) had significant coordination disorders, primarily affecting balance and manual dexterity. Among children with galactosemia, children with more speech errors and classified as childhood apraxia of speech (n = 7) and ataxic dysarthria (n = 1), had poorer balance and manual dexterity, but not weaker hand or tongue strength, compared to the children with fewer speech errors. The number of days on milk during the neonatal period was associated with more speech errors in males but not in females.

Conclusion Children with galactosemia have a high prevalence of co-occurring speech, coordination, and strength disorders, which may be evidence of a common underlying etiology, likely associated with diffuse cerebellar damage, rather than distinct disorders.


Manual Dexterity Speech Disorder Nondominant Hand Tongue Strength Speech Error 
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.



Childhood Apraxia of Speech


Kolmogorov-Smirnov one sample one-tail test statistic


Kolmogorov-Smirnov two sample one-tail test statistic


Movement Assessment Battery for Children


Motor Speech Disorder-Not Otherwise Specified


Percentage of Consonants Correct from an Articulation Test


Percentage of Consonants Correct from a 5-minute Conversational Speech Sample



This research was supported by National Institute on Deafness and Other Communication Disorders Grant DC000496 and by a core grant to the Waisman Center from the National Institute of Child Health and Development (Grant HD03352). We thank the following colleagues for their contributions to this study: Heather Karlsson, Heather Lohmeier, Jane McSweeny, Leslie Power, Lola Rickey, Sue Siemsen, Christie Tilkens, The Galactosemia Foundation, Galactosemic Families of Minnesota, and the children and parents who participated in this study.


  1. Belton E, Salmond CH, Watkins KE, Vargha-Khadem F, Gadian DG (2003) Bilateral brain abnormalities associated with dominantly inherited verbal orofacial dyspraxia. Hum Brain Mapp 18:194–200PubMedCrossRefGoogle Scholar
  2. Berry GT (2012) Galactosemia: when is it a newborn screening emergency? Mol Genet Metab 106:7–11PubMedCrossRefGoogle Scholar
  3. Berry GT, Elsas LJ (2011) Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia. J Inherit Metab Dis 34:249–255PubMedCrossRefGoogle Scholar
  4. Doya K (2000) Complementary roles of basal ganglia and cerebellum in learning and motor control. Curr Op Neurobiol 10:732–739PubMedCrossRefGoogle Scholar
  5. Dubroff JG, Ficicioglu C, Segal S, Wintering NA, Alavi A, Newberg AB (2008) FDG-PET findings in patients with galactosaemia. J Inherit Metab Dis 31:533–539PubMedCrossRefGoogle Scholar
  6. Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, Land JA, Rubio-Gozalbo E (2011) Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis 34:357–366PubMedCrossRefGoogle Scholar
  7. Gaines R, Missiuna C (2007) Early identification: are speech/language-impaired toddlers at increased risk for developmental coordination disorder? Child Care Health Dev 33:325–332PubMedCrossRefGoogle Scholar
  8. Gallup AC, White DD, Gallup GG Jr (2007) Handgrip strength predicts sexual behavior, body morphology, and aggression in male college students. Evolution Human Behav 28:423–429CrossRefGoogle Scholar
  9. Goldman R, Fristoe M (2000) Goldman Fristoe test of articulation, 2nd edn. MN, AGS Publishing, Circle PinesGoogle Scholar
  10. Gubbels CS, Welt CK, Dumoulin JC, Robben SG et al (2012) The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis [Epub ahead of print].Google Scholar
  11. Häger-Ross C, Rösblad B (2002) Norms for grip strength in children aged 4–16 years. Acta Paediatr 91:617–625PubMedCrossRefGoogle Scholar
  12. Henderson SD, Sugden DA (1992) The movement assessment battery for children. The Psychological Corporation, LondonGoogle Scholar
  13. Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP (2009) Outcomes of siblings with classical galactosemia. J Pediatr 5:721–726Google Scholar
  14. Northwest IOPI (2005) Iowa oral performance instrument: user’s manual. IOPI Medical LLC, Carnation, WAGoogle Scholar
  15. Johnson EO, Breslau N (2000) Increased risk of learning disabilities in low birth weight boys at age 11 years. Biol Psychiatry 47:490–500PubMedCrossRefGoogle Scholar
  16. Jumbo-Lucioni PP, Garber K, Kiel J et al (2012) Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis 35:1037–49.Google Scholar
  17. Lof GL, Watson MM (2008) A nationwide survey of nonspeech oral motor exercise use: implications for evidence-based practice. Lang Speech Hear Serv Sch 39:392–407PubMedCrossRefGoogle Scholar
  18. MATLAB version R2012a ( (2012) Natick, Massachusetts, The MathWorks Inc.Google Scholar
  19. Murdoch BE, Attard MD, Ozanne AE, Stokes PD (1995) Impaired tongue strength and endurance in developmental verbal dyspraxia: a physiological analysis. Int J Lang Comm Dis 30:51–64CrossRefGoogle Scholar
  20. Penhune VB, Steele CJ (2012) Parallel contributions of cerebellar, striatal and M1 mechanisms to motor sequence learning. Behav Brain Res 226:579–591PubMedCrossRefGoogle Scholar
  21. Pieters S, De Block K, Scheiris J et al (2012) How common are motor problems in children with a developmental disorder: rule or exception? Child Care Health Dev 38:139–145PubMedCrossRefGoogle Scholar
  22. Potter NL (2011) Voice disorders in children with classic galactosemia. J Inherit Metab Dis 34:377–385PubMedCrossRefGoogle Scholar
  23. Potter NL, Hall S, Karlsson HB et al (2012) Reference data for the Madison Speech Assessment Protocol (MSAP): A Database of 150 Participants 3-to-18 Years of Age with Typical Speech (Tech. Rep. No. 18). Phonology Project, Waisman Center, University of Wisconsin-MadisonGoogle Scholar
  24. Potter NL, Lazarus JA, Johnson JM, Steiner RD, Shriberg LD (2008) Correlates of language impairment in children with galactosaemia. J Inherit Metab Dis 31:524–532PubMedCrossRefGoogle Scholar
  25. Raynor AJ (2001) Strength, power, and coactivation in children with developmental coordination disorder. Dev Med Child Neurol 43:676–684PubMedCrossRefGoogle Scholar
  26. Robin DA, Somodi LB, Luschei ES (1991) Measurement of tongue strength and endurance in normal and articulation disordered subjects. In: Moore CA, Yorkston KM, Beukelman DR (eds) Dysarthria and apraxia of speech: perspectives on management. Paul H Brookes Pub Co, Baltimore, pp 173–184Google Scholar
  27. Shriberg LD, Fourakis M, Hall SD et al (2010) Extensions to the Speech Disorders Classification System (SDCS). Clin Linguist Phon 24:795–824PubMedCrossRefGoogle Scholar
  28. Shriberg LD, Potter NL, Strand EA (2011) Prevalence and phenotype of childhood apraxia of speech in youth with galactosemia. J Speech Lang Hear Res 54:487–519PubMedCrossRefGoogle Scholar
  29. Stoodley CJ, Schmahmann JD (2009) Functional topography in the human cerebellum: a meta-analysis of neuroimaging studies. Neuroimage 44:489–501PubMedCrossRefGoogle Scholar
  30. Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13:802–818PubMedCrossRefGoogle Scholar
  31. Waisbren SE, Potter NL, Gordon CM et al (2012) The adult galactosemic phenotype. J Inherit Metab Dis 35:279–286PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Nancy L. Potter
    • 1
    Email author
  • Yves Nievergelt
    • 2
  • Lawrence D. Shriberg
    • 3
  1. 1.Department of Speech and Hearing SciencesWashington State University SpokaneSpokaneUSA
  2. 2.Department of MathematicsEastern Washington UniversityCheneyUSA
  3. 3.Waisman CenterUniversity of Wisconsin-MadisonMadisonUSA

Personalised recommendations