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.

Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study

“…We undertook this pilot study to assess how school-age children with DG would perform relative to their unaffected peers in areas of development either previously implicated as problematic in this population (Powell et al 2009) or known to be affected in children with classic galactosemia (e.g., (Antshel et al 2004;Bosch et al 2004;Doyle et al 2010;Potter et al 2008;Potter et al 2013)). We used a combination of standardized direct tests and parent-report surveys to assess cognitive, communication, socio-emotional, adaptive behavior, and physical development of 10 children with DG and 5 unaffected siblings, all ages 6-11 years old.…”

“…For this pilot study, we focused on developmental areas known to be affected in children with classic galactosemia (e.g., (Antshel et al 2004;Bosch et al 2004;Doyle et al 2010;Potter et al 2008;Potter et al 2013)). Whenever a standardized measure was available, we used such an instrument to allow comparison with population norms in which standard scores (SS and T-scores) adjust for age and gender.…”

“…Receptive and expressive language were assessed using the Listening Comprehension and Oral Expression subtests of the Oral and Written Language Scales, Second Edition (OWLS-II). Tongue strength was assessed using the Iowa Oral Performance Instrument (IOPI) with the standard tongue bulb (IOPI Northwest 2005; (Potter et al 2013)). …”

“…Six of the seven children in the DG, parental concerns group, and two of the five children in the control group had total scores at or below the 5th percentile of the reference range on the MABC, which is the most frequently used cutoff score for diagnosing a coordination disorder (Potter et al 2013) ( Table 5). All of the children in the DG, no parental concerns group, had scores above the 5th percentile on motor skills, though one scored just above the cutoff (at the 6th percentile).…”

“…Of the 10 children with DG, parents of seven had expressed concern regarding one or more developmental areas; parents of the other three said that they did not have concerns. Our goal was to assess how children with DG would perform relative to their unaffected peers in those areas of development known to be affected in children with CG (e.g., (Antshel et al 2004;Bosch et al 2004;Doyle et al 2010;Potter et al 2008;Potter et al 2013)), using standardized tests of cognition, communication, socio-emotional, adaptive behavior, and physical development. In addition, we assessed how well a parent-response survey correlated with the results of direct testing.…”