The neuropsychological profile of galactosaemia

Doyle, Claire; Channon, Shelley; Orlowska, Danuta; Lee, Philip J.

doi:10.1007/s10545-010-9154-y

Cited by 41 publications

(68 citation statements)

References 20 publications

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“…Intellectual disability occurs in at least 50% of affected individuals (Waggoner et al 1990;Schweitzer et al 1993;Shield et al 2000;Doyle et al 2010;Waisbren et al 2012;Coss et al 2013;Rubio-Agusti et al 2013). Abnormal myelination was first documented in galactosaemia in 1971 (Haberland et al 1971;Lebea and Pretorius 2005).…”

Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

et al. 2016

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Classical galactosaemia is a rare disorder of carbohydrate metabolism caused by galactose-1-phosphate uridyltransferase (GALT) deficiency (EC 2.7.7.12). The disease is life threatening if left untreated in neonates and the only available treatment option is a long-term galactose restricted diet. While this is lifesaving in the neonate, complications persist in treated individuals, and the cause of these, despite early initiation of treatment, and shared GALT genotypes remain poorly understood. Systemic abnormal glycosylation has been proposed to contribute substantially to the ongoing pathophysiology. The gross N-glycosylation assembly defects observed in the untreated neonate correct over time with treatment. However, N-glycosylation processing defects persist in treated children and adults.Congenital disorders of glycosylation (CDG) are a large group of over 100 inherited disorders affecting largely N-and O-glycosylation.In this review, we compare the clinical features observed in galactosaemia with a number of predominant CDG conditions.We also summarize the N-glycosylation abnormalities, which we have described in galactosaemia adult and paediatric patients, using an automated high-throughput HILIC-UPLC analysis of galactose incorporation into serum IgG with analysis of the corresponding N-glycan gene expression patterns and the affected pathways.

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Section: Congenital Disorders Of Glycosylationmentioning

confidence: 99%

Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review

et al. 2016

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Outcome Measuresmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

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Duarte galactosemia (DG) is a mild allelic variant of classic galactosemia that results from partial impairment of galactose-1P uridylyltransferase (GALT). Although infants with DG are detected by newborn screening in some US states at close to 1/4,000 live births, most are discharged from follow-up very early in life and there is no consensus on whether these children are at increased risk for any of the long-term developmental delays seen in classic galactosemia. There is also no consensus on whether infants with DG benefit from dietary restriction of galactose. Reflecting the current uncertainty, some states choose to identify infants with DG by newborn screening and others do not. As a first step toward characterizing the developmental outcomes of school-age children with DG, we conducted a pilot study, testing 10 children with DG and 5 unaffected siblings from the same group of families. All children tested were between 6 and 11 years old. We used standardized direct assessments and parent-response surveys to collect information regarding cognition, communication, socio-emotional, adaptive behavior, and physical development for each child. Despite the small sample size, our data demonstrated some notable differences between cases and controls in socio-emotional development, in delayed recall, and in auditory processing speed. These results confirm that direct assessment of school-age children with DG can detect subtle but potentially problematic developmental deficits, and underscore the need for a larger study which has sufficient power to evaluate these outcomes while controlling for potentially confounding factors.

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“…Evaluation of cognitive abilities, including measurement of intelligence, is therefore an important aspect of the follow-up of children and adults. Studies show mean IQ scores below average, however, with large interindividual variability (Donnell et al 1961;Komrower and Lee 1970;Waggoner et al 1990;Schweitzer et al 1993;Kaufman et al 1994Kaufman et al , 1995Hansen et al 1996;Rasmussen et al 1996;Badawi et al 1996;Shield et al 2000;Widhalm et al 2002;Antshel et al 2004;Doyle et al 2010;Schadewaldt et al 2010;Coss et al 2013;Rubio-Agusti et al 2013), with many patients (45-72%) scoring in the low to very low range (IQ <85) (Schweitzer et al 1993;Rasmussen et al 1996;Shield et al 2000;Hoffmann et al 2011). Start of treatment after the 8th week of life seems to increase the risk for decreased cognitive abilities (Waggoner et al 1990;Schweitzer et al 1993).…”

Section: Introductionmentioning

confidence: 99%