Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency

Ljungblad, Ulf; Astrup, Henriette; Mørkrid, Lars; Hager, Helle Borgstrøm; Lindberg, Morten; Eklund, Erik A.; Bjørke‐Monsen, Anne‐Lise; Rootwelt, Terje; Tangeraas, Trine

doi:10.1016/j.pediatrneurol.2022.03.003

Cited by 9 publications

(31 citation statements)

References 33 publications

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“…Only short‐term safety for obstetric use has been documented, 8,9 but the longer‐term effect of the inhibition of methionine synthase has not been evaluated. In a previous publication, we found that nitrous oxide correlates with both infant tHcy and MMA levels several months after birth in infants with clinically diagnosed B12 deficiency, suggesting nitrous oxide as a possible risk factor for early infant B12 deficiency 16 …”

Section: Introductionmentioning

confidence: 78%

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

et al. 2022

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Aim Risk factors for vitamin B12 deficiency in infants are not fully understood. The aim of the study was to assess predictors of total homocysteine and methylmalonic acid analysed in newborn screening dried blood spots. Methods In a Norwegian case control study, we analysed total homocysteine and methylmalonic acid in newborn screening dried blood spots of 86 infants clinically diagnosed with vitamin B12 deficiency during 2012–2018. Results were compared to 252 healthy infants and 400 dried blood spot controls. Medical records were reviewed, and mothers completed questionnaires. Results Both total homocysteine and methylmalonic acid were significantly higher on newborn screening dried blood spots in infants later clinically diagnosed with vitamin B12 deficiency than controls. Multiple regression analysis showed that the dose of nitrous oxide during labour was the strongest predictor for total homocysteine level in newborn screening dried blood spots for all infants, with larger effect in infants later clinically diagnosed with vitamin B12 deficiency than controls. Conclusion Nitrous oxide dose during labour was a predictor for total homocysteine and may impact the interpretation of total homocysteine analysis in newborn screening. Nitrous oxide is suggested as a contributing risk factor for infants prone to develop vitamin B12 deficiency.

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Section: Introductionmentioning

confidence: 78%

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

et al. 2022

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“…Two infants were withdrawn from the study by their parents after inclusion, leaving 252 infants for analyses. Details on inclusion, background characteristics and clinical and biochemical findings have been published elsewhere 12–14 . The infants were categorised into three groups: 170 born at gestational age ≥37 weeks and appropriate weight for gestational age, 39 born at a gestational age of ≥37 weeks and 43 born preterm at gestational age 32–36 + 6 weeks.…”

Section: Resultsmentioning

confidence: 99%

“…We invited infants born at gestational age ≥32 weeks, without identified perinatal neurological disease 12–14 . All infants were recruited at Vestfold Hospital Trust and were examined by a paediatrician at invitation.…”

Section: Methodsmentioning

confidence: 99%

“…We invited infants born at gestational age ≥32 weeks, without identified perinatal neurological disease. [12][13][14] All infants were recruited at Vestfold Hospital Trust and were examined by a paediatrician at invitation. Small for gestational age was defined as birth weight below the 10th percentile for gestational age.…”

Section: Study Populationmentioning

confidence: 99%

“…Details on inclusion, background characteristics and clinical and biochemical findings have been published elsewhere. [12][13][14] The infants were categorised into three groups: 170 born at gestational age ≥37 weeks and appropriate weight for gestational age, 39 born at a gestational age of ≥37 weeks and 43 born preterm at gestational age 32-36 + 6 weeks. The 7/43 (16%) infants born preterm and small for gestational age were categorised as preterm.…”

Section: Characteristics Of Populationmentioning

confidence: 99%

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Lower iron stores were associated with suboptimal gross motor scores in infants at 3–7 months

et al. 2022

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Iron is an essential micronutrient for the developing brain and is needed for myelination and maturation of the brain and for cognitive functions. 1 Iron deficiency in infancy is common in both high-income and low-income countries. The infants depend on sufficient availability of micronutrients to achieve rapid growth and development.Early identification and prevention of iron deficiency is especially important since early iron supplementation has been shown to result in better motor skills at 9 and 12 months of age when compared to non-supplemented infants. [2][3][4] Ferritin levels are widely used as a biomarker of iron stores. 5 Since ferritin exhibits large age-dependent variations during the first 6 months of life, 6 as well as being an acute-phase protein increasing with infection and inflammation, 7 reticulocyte haemoglobin (ret-Hb) is increasingly used in this age group to estimate iron stores.

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Evaluation and optimization of newborn screening by structured long-term follow-up—using the example of inherited metabolic diseases

Mütze,

Kölker

2023

Bundesgesundheitsbl

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ZusammenfassungDas Neugeborenenscreening (NGS) ist ein hoch erfolgreiches Programm der Sekundärprävention mit dem Ziel, schwere Folgeschäden von angeborenen, meist genetisch bedingten Erkrankungen durch möglichst frühe präsymptomatische Identifizierung zu verhindern. Bisherige Studien zeigen wichtige Errungenschaften von NGS-Programmen, decken aber auch eine Reihe von relevanten Schwächen auf. Dazu gehören der zumeist unvollständig verstandene natürliche Verlauf und die phänotypische Vielfalt seltener Krankheiten sowie die unzureichende Möglichkeit einer präzisen, frühen Vorhersage des individuellen Krankheitsschweregrads und damit die Unsicherheiten bei der Falldefinition, der Risikostratifizierung und der Behandlungsindikation.Vor dem Hintergrund der rasanten Entwicklungen in den genetischen Hochdurchsatztechnologien und der damit verbundenen Möglichkeiten einer zukünftigen erheblichen Ausweitung der NGS-Programme erscheint es überfällig, die strukturierte Langzeitbeobachtung und die hierauf basierende Evaluation des langzeitlichen Gesundheitsnutzens für die im NGS identifizierten Menschen mit seltenen Krankheiten obligatorisch im NGS-Programm zu verankern. Der vorliegende Beitrag erläutert die Bedeutung der Langzeitbeobachtung für die Evaluation und die kontinuierliche Optimierung des NGS. Klinische Langzeitverläufe der im NGS identifizierten Menschen mit angeborenen Stoffwechselkrankheiten werden beispielhaft dargestellt.

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Breastfed Infants With Spells, Tremor, or Irritability: Rule Out Vitamin B12 Deficiency

Cited by 9 publications

References 33 publications

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

Nitrous oxide in labour predicted newborn screening total homocysteine and is a potential risk factor for infant vitamin B12 deficiency

Lower iron stores were associated with suboptimal gross motor scores in infants at 3–7 months

Evaluation and optimization of newborn screening by structured long-term follow-up—using the example of inherited metabolic diseases

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