Motor and Speech Disorders in Classic Galactosemia

Abstract

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.

Competing interests: None declared

Appendices

One Sentence Synopsis

Children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders.

Details of the Contributions of Individual Authors

Nancy L. Potter conducted the study and drafted the manuscript, Yves Nievergelt performed the data analyses and assisted in drafting the manuscript, Lawrence D. Shriberg was the PI on the grant that funded the present study, assisted in planning the study, analyzed the speech samples, and edited the manuscript.

Name of One Author Who Serves as Guarantor

Nancy L. Potter accepts full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish.

Details of Funding

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). The authors confirm independence from the sponsors; the sponsors have not influenced the content of the article.

Details of Ethics Approval

The Institutional Review Boards of the University of Wisconsin-Madison and Washington State University approved this study.

Patient Consent Statement

A parent of each participant provided written consent, children age 12 years and older provided written consent, and children 11 years and younger provided written or verbal informed assent.