Classic galactosemia: dietary dilemmas

Bosch, Annet M.

doi:10.1007/s10545-010-9157-8

Cited by 48 publications

(27 citation statements)

References 29 publications

(37 reference statements)

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“…Although FP's status as the older sibling would suggest her PA skills would be more developed than her sibling MP, MP's skills were notably more advanced than his older sister. The finding of vastly contrasting PA skills between siblings with GAL is consistent with previous research findings where intrafamily variability has been reported (Lambert and Boneh 2004;Hughes et al 2009;Coman et al 2010, Doyle et al 2010Bosch 2011).…”

Section: Discussionsupporting

confidence: 90%

“…In contrast, galactose restriction was implemented at birth for MP, thus avoiding the diverse system failure associated with the accumulation of galactose and its by-products in the blood and tissues (Fridovich and Walter 2008). Research to date suggests that differential developmental outcomes observed in the disorder are not related to conditions during the neonatal (e.g., age at diagnosis and restriction of galactose intake or severity of neonatal crisis) or postnatal period [e.g., adherence to diet] (Cleary et al 1995;Bosch 2011). Rather, developmental outcome may be influenced by prenatal conditions (Fridovich andWalter 2008, Potter et al 2008;Berry and Elsas 2011) such as harmful intrauterine levels of galactitol causing early but static neural injury (Ridel et al 2005).…”

Section: Discussionmentioning

confidence: 99%

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Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

et al. 2012

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Educational achievement, which for individuals with the metabolic disorder classic galactosemia (GAL) is significantly lower than in the wider population, correlates with self-reported quality of life. Phonological awareness skills underpin the development of literacy, and although literacy is a key contributor to successful academic outcomes, no study to date has investigated phonological awareness skills in children with GAL. This study investigated phonological awareness (PA) in four school-aged children with the disorder, two of whom were siblings. Age range for the children was 7 years 7 months to 9 years 2 months. Each child was assessed with the Phonological Awareness criterionreferenced subtest from the Clinical Evaluation of Language Fundamentals-Fourth Edition. Included in the data for analysis was each child's performance measures obtained from their most recent assessment of cognitive and lexical development. A number of descriptive analyses were undertaken on the data. One child, who met her age criterion for PA, had cognitive and lexical development skills in the average range. The remaining three children failed to meet their age criteria. Although these three children presented with clinically similar cognitive and lexical development skills, disparate PA skills were identified. The PA skills of one of the sibling pair were notably more advanced than his older sibling. The limitations of relying on behavioural test results in children with GAL to predict those most at risk of reduced skill development are discussed in terms future research directions.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

et al. 2012

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“…Indeed, it has been suggested that endogenous production of galactose may play a pivotal role in the pathogenesis of long-term complications in classic galactosemia (Berry et al 1995). Despite reports that suggest increased tolerance to exogenous galactose in adulthood (Lee et al 2003, Panis et al 2006a, b), which have led some to encourage a liberalization of galactose intake for this age group (Hughes et al 2009), others suggest it may be unwise to relax the diet in adulthood until the pathophysiology underlying the long-term complications in classic galactosemia is clearly understood (Bosch 2011). …”

Section: Discussionmentioning

confidence: 99%

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Jumbo-Lucioni¹,

Garber²,

Kiel³

et al. 2012

J of Inher Metab Disea

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Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long‐term complications including cognitive disability, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction. Further, there remains uncertainty surrounding what constitutes a ‘best practice’ for treating this disorder. To explore the extent and implications of this uncertainty, we conducted a small but global survey of healthcare providers who follow patients with classic galactosemia, seeking to compare established protocols for diagnosis, intervention, and follow‐up, as well as the outcomes and outcome frequencies seen in the patient populations cared for by these providers. We received 13 survey responses representing five continents and 11 countries. Respondents underscored disparities in approaches to diagnosis, management and follow‐up care. Notably, we saw no clear relationship between differing approaches to care and long‐term outcomes in the populations studied. Negative outcomes occurred in the majority of cases regardless of when treatment was initiated, how tightly galactose intake was restricted, or how closely patients were monitored. We document here what is, to our knowledge, the first global comparison of healthcare approaches to classic galactosemia. These data reinforce the idea that there is currently no one best practice for treating patients with classic galactosemia, and underscore the need for more extensive and statistically powerful comparative studies to reveal potential positive or negative impacts of differing approaches.

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“…Galactose is found in dairy foods including breast and commercially available bottle formulae (Bosch, 2011), and in the absence of GALT, galactose metabolites accumulate to toxic proportions potentially leading to diverse system failure and death in the neonate subsequent to the introduction of breast/formula feeding (Fridovich & Walter, 2008). Substitution of dairy with soy products rapidly reduces the neonatal toxicity (Gubbels et al, 2011;Hughes et al, 2009).…”

Section: Introductionmentioning

confidence: 99%

Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia

Lewis

DeJonge

Coman

2014

Early Child Development and Care

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Classic galactosemia: dietary dilemmas

Cited by 48 publications

References 29 publications

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia

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