Voice disorders in children with classic galactosemia

Potter, Nancy L.

doi:10.1007/s10545-010-9213-4

Cited by 22 publications

(27 citation statements)

References 30 publications

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“…This finding would be in line with previously reported motor (speech) disorders in galactosemia (Potter, 2011;Potter et al, 2013;Rubio-Agusti et al, 2013;Shriberg et al, 2011). Hypoactivity of the posterior STG and PT has been observed in patients with specific language impairment (SLI) (Badcock et al, 2012) and CAS as well (Liegeois et al, 2003).…”

Section: Discussionsupporting

confidence: 92%

“…Cognitive impairments include lower intelligence, memory impairments, slower information processing, as well as voice, motor (speech), and language impairments (Antshel et al, 2004;Doyle et al, 2010;RubioAgusti et al, 2013;Timmers et al, 2011;Widhalm et al, 2002). Childhood apraxia of speech (CAS) or verbal dyspraxia has traditionally been reported as an explanation for the speech and language impairments in galactosemia (Nelson et al, 1991;Robertson et al, 2000;Waggoner et al, 1990), although recent estimations indicate that only about 20-25% of the patients with galactosemia meet the criteria (Potter, 2011;Shriberg et al, 2011). In addition, patients with galactosemia have impairments in language planning (Potter et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

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Affected functional networks associated with sentence production in classic galactosemia

et al. 2015

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Section: Discussionsupporting

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Affected functional networks associated with sentence production in classic galactosemia

et al. 2015

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“…A total of 163 children between 4 and 16 years of age participated in this case-control study, which was part of a larger study of CAS (Potter et al 2008;Potter 2011;Shriberg et al 2011). There were 32 children with galactosemia, 21 males and 11 females, and 130 control children, 5 males and 5 females from each 6-month age group from 4-16 years of age .…”

Section: Methodsmentioning

confidence: 99%

“…The above assessments were conducted among children with galactosemia in their homes using a protocol that included measures in addition to those discussed in the present study (Potter et al 2008;Potter 2011;Shriberg et al 2011). Controls were assessed in a quiet schoolroom during the school day.…”

Section: Methodsmentioning

confidence: 99%

Motor and Speech Disorders in Classic Galactosemia

2013

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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.

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“…In contrast, in classical galactosaemia long-term follow-up studies of patients have shown that, in spite of a severely galactose-restricted diet, most patients develop abnormalities such as disturbed mental and/or motor development and females develop hypergonadotropic hypogonadism (Bosch et al 2002). In classical galactosaemia there is also impairment of speech, resulting from disruption in motor planning and programming or motor execution (Potter 2011). In our patient the global developmental delay, microcephaly and generalised epilepsy most likely reflect the combination of hyperinsulinaemic hypoglycaemia and galactokinase deficiency.…”

Section: Control Probandmentioning

confidence: 60%

Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

et al. 2011

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Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period. Galactosaemia has not previously been reported in a neonate with concomitant CHI.Aims: To report the first case of a patient with CHI and galactokinase deficiency, and to describe the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined galactokinase deficiency and CHI.Patients/methods: A 3-day-old baby girl from consanguineous parents presented with poor feeding, irritability and seizures. Capillary blood glucose testing using bedside test strips and glucometer showed a glucose level of 18 mmol/L, but the actual laboratory blood glucose level was only 1.8 mmol/L. After discontinuation of oral feeding (stopping provision of dietary galactose), the bedside capillary blood glucose correlated with laboratory glucose concentrations. Results: Biochemically the patient had CHI (blood glucose level 2.3 mmol/L with simultaneous serum insulin level of 30 mU/L) and galactokinase deficiency (elevated serum galactose level 0.62 mmol/L). Homozygous loss of function mutations in ABCC8 and GALK1 were found, which explained the patient's CHI and galactokinase deficiency, respectively.Conclusion: This is the first reported case of CHI and galactokinase deficiency occurring in the same patient. Severe hypoglycaemia in neonates with CHI may go undetected with bedside blood glucose meters in patients with galactokinase deficiency.

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Voice disorders in children with classic galactosemia

Cited by 22 publications

References 30 publications

Affected functional networks associated with sentence production in classic galactosemia

Affected functional networks associated with sentence production in classic galactosemia

Motor and Speech Disorders in Classic Galactosemia

Galactokinase Deficiency in a Patient with Congenital Hyperinsulinism

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