Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state

Wang, Ying; Sango-Jordan, Marilyn; Casini, Michèle

doi:10.1038/gim.2014.21

Cited by 9 publications

(9 citation statements)

References 23 publications

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“…We found that children diagnosed with MCAD deficiency through newborn screening used physician services, ED care, and were hospitalized at significantly higher rates compared to a population-based cohort of children with negative newborn screening results over the first several years of age. Previous studies have found that children diagnosed with fatty acid oxidation disorders experience higher rates of health services use relative to children with other inherited metabolic disorders [33, 34]. Thus, this overall finding was not unexpected.…”

Section: Discussionsupporting

confidence: 56%

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Karaceper

Khangura

Wilson

et al. 2019

Orphanet J Rare Dis

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BackgroundWe describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort.MethodsEligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence.ResultsThroughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1–2.5 visits per child per year; hospitalization: 0.5–0.6 visits per child per year), after which rates gradually declined.ConclusionsThis study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.

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Section: Discussionsupporting

confidence: 56%

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Karaceper

Khangura

Wilson

et al. 2019

Orphanet J Rare Dis

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“…Although, newborn screening for FAOD has led to a significant reduction in deaths and serious adverse events (24), acute care utilization remains high in these patients compared to age-matched controls. In line with our study, a retrospective cohort study in patients with IEMs identified through newborn screening between 2006-2007 reported that 44% (27 out of 61) of patients with a FAOD had IEM-related acute care utilization during their first year of life (26). Another recent study from Canada reported that children with MCADD experienced on average 0.6 hospital admissions per year, from six to 12 months of age (27).…”

Section: Discussionsupporting

confidence: 88%

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

Hoogeveen¹,

Amerongen²,

Weynschenk³

et al. 2020

Preprint

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Background - Patients with inborn errors of metabolism causing fasting intolerance are at risk of acute metabolic decompensations. Disease specific emergency protocols are widely available, but long-term data on safety and efficacy outcomes are lacking. We hypothesized that a generic emergency protocol can be safe and effective in patients with inborn errors of metabolism causing fasting intolerance. Results - We retrospectively evaluated our generic emergency protocol in 128 patients with a hepatic glycogen storage disease or fatty acid oxidation defect between February 1, 2014 and April 24, 2019. In total, 127 hospital admissions were documented in 54 out of 128 patients (42%). Hypoglycemia (glucose concentration <3.9 mmol/l) was reported in 15% of admissions. Hypoglycemia at admission was uncommon in patients with ketotic glycogen storage disease and verbal patients with a fatty acid oxidation defect. Convulsions, coma or death were not reported. Conclusions - Generic emergency protocols can be safe and effective for home management by the caregivers and the first hour in-hospital management of metabolic emergencies in patients with hepatic glycogen storage disease and medium-chain Acyl CoA dehydrogenase deficiency.

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“…Patients with LC-FAODs can present with a wide range of symptoms varying from severe neonatal hypoglycemia, hepatomegaly, and cardiomyopathy to milder adolescent and adult phenotypes with recurrent rhabdomyolysis and exercise intolerance. The most common chronic manifestations of the disorders are frequent episodes of myalgia, recurrent rhabdomyolysis induced by exercise, fasting or illness, cardio- myopathy, and an associated decreased quality of life (Spiekerkoetter et al 2010; Rinaldo et al 2002; Wilcken 2010; Lindner et al 2011; Wang et al 2014). …”

Section: Introductionmentioning

confidence: 99%

Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Gillingham

Heitner

Martin

et al. 2017

J of Inher Metab Disea

119

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Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state

Cited by 9 publications

References 23 publications

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients

Triheptanoin versus trioctanoin for long‐chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

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