Ulrike Mütze1, Magdalena Walter2, Mareike Keller2, Gwendolyn Gramer2, Sven F Garbade2, Florian Gleich2, Dorothea Haas2, Roland Posset2, Sarah C Grünert3, Julia B Hennermann4, Eva Thimm5, Junmin Fang-Hoffmann2, Steffen Syrbe6, Jürgen G Okun2, Georg F Hoffmann2, Stefan Kölker2. 1. Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: Ulrike.Muetze@med.uni-heidelberg.de. 2. Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. 3. Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany. 4. Villa Metabolica, Department of Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany. 5. Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany. 6. Division of Pediatric Epileptology, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Abstract
OBJECTIVE: To evaluate the clinical outcomes at age 1.5 ± 0.5 years of infants with vitamin B12 deficiency identified by newborn screening (NBS). STUDY DESIGN: Prospective multicenter observational study on health outcomes of 31 infants with vitamin B12 deficiency identified by NBS. Neurodevelopment was assessed by the Denver Developmental Screening Test. RESULTS: In 285 862 newborns screened between 2016 and 2019, the estimated birth prevalence of vitamin B12 deficiency was 26 in 100 000 newborns, with high seasonal variations (lowest in summer: 8 in 100 000). Infants participating in the outcome study (N = 31) were supplemented with vitamin B12 for a median (range) of 5.9 (1.1-16.2) months. All achieved age-appropriate test results in Denver Developmental Screening Test at age 15 (11-23) months and did not present with symptoms characteristic for vitamin B12 deficiency. Most (81%, n = 25) mothers of affected newborns had a hitherto undiagnosed (functional) vitamin B12 deficiency, and, subsequently, received specific therapy. CONCLUSIONS: Neonatal vitamin B12 deficiency can be screened by NBS, preventing the manifestation of irreversible neurologic symptoms and the recurrence of vitamin B12 deficiency in future pregnancies through adequate treatment of affected newborns and their mothers. The high frequency of mothers with migrant background having a newborn with vitamin B12 deficiency highlights the need for improved prenatal care.
OBJECTIVE: To evaluate the clinical outcomes at age 1.5 ± 0.5 years of infants with vitamin B12deficiency identified by newborn screening (NBS). STUDY DESIGN: Prospective multicenter observational study on health outcomes of 31 infants with vitamin B12deficiency identified by NBS. Neurodevelopment was assessed by the Denver Developmental Screening Test. RESULTS: In 285 862 newborns screened between 2016 and 2019, the estimated birth prevalence of vitamin B12deficiency was 26 in 100 000 newborns, with high seasonal variations (lowest in summer: 8 in 100 000). Infants participating in the outcome study (N = 31) were supplemented with vitamin B12 for a median (range) of 5.9 (1.1-16.2) months. All achieved age-appropriate test results in Denver Developmental Screening Test at age 15 (11-23) months and did not present with symptoms characteristic for vitamin B12deficiency. Most (81%, n = 25) mothers of affected newborns had a hitherto undiagnosed (functional) vitamin B12deficiency, and, subsequently, received specific therapy. CONCLUSIONS: Neonatal vitamin B12deficiency can be screened by NBS, preventing the manifestation of irreversible neurologic symptoms and the recurrence of vitamin B12deficiency in future pregnancies through adequate treatment of affected newborns and their mothers. The high frequency of mothers with migrant background having a newborn with vitamin B12deficiency highlights the need for improved prenatal care.
Authors: Jaka Sikonja; Urh Groselj; Maurizio Scarpa; Giancarlo la Marca; David Cheillan; Stefan Kölker; Rolf H Zetterström; Viktor Kožich; Yann Le Cam; Gulcin Gumus; Valentina Bottarelli; Mirjam van der Burg; Eugenie Dekkers; Tadej Battelino; Johan Prevot; Peter C J I Schielen; James R Bonham Journal: Int J Neonatal Screen Date: 2022-05-06