The effect of hypocalcemia in early childhood on a

Authors: Meghan Muldoon Opal Y Ousley Lisa J Kobrynski Sheena Patel Matthew E Oster Samuel FernandezCarriba Joseph F Cubells Karlene Coleman Bradley D Pearce

Publish Date: 2014/09/30

Volume: 265, Issue: 6, Pages: 519-524

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Abstract

22q11 deletion syndrome 22qDS also known as DiGeorge syndrome is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia learning disabilities and psychiatric disorders Many patients with 22q11DS present with signs that overlap with autism spectrum disorder ASD yet the possible physiological mechanisms that link 22q11DS with ASD are unknown We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS Drawing on a longitudinal cohort of 22q11DS patients we abstracted albuminadjusted serum calcium levels from 151 participants ranging in age from newborn to 195 years mean 25 years We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior ScalesDevelopmental Profile InfantToddler Checklist CSBSDP ITC The mean SD age at calcium testing was 62 85 months whereas the mean SD age at the CSBSDP ITC assessment was 147 38 months Lower calcium was associated with significantly greater impairment in the CSBSDP ITC Social p  005 Speech p  001 and Symbolic domains p  005 in regression models adjusted for sex age at blood draw and age at the psychological assessment Nevertheless these findings are limited by the small sample size of children with combined data on calcium and CSBSDP ITC and hence will require replication in a larger cohort with longitudinal assessments Considering the role of calcium regulation in neurodevelopment and neuroplasticity low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomesWe thank Mackenzie Crawford MPH Jennifer Sarrett MA Tal Senior RN Kathryn Claypool RedCap Marc Overcash RedCap Myffy Hopkins PhD RSPH Nancy Bliwise PhD and Jessica Preslar BS for their valuable contributions to the informatics We are grateful for support from National Institutes of Health NIMH grant 1R21MH083138 Atlanta Clinical and Translational Science Institute Autism Foundation of Georgia and the Emory Neuroscience Initiative and Dr Dennis ChoiDr Cubells has participated as a study physician in clinical trials sponsored by Seaside Therapeutics Roche ScheringPlough Lilly and Biomarin He has served as a scientific consultant to Abott Laboratories Novartis and Barnes and Thornberg LLP Dr Kobrynski conducts clinical trials for Baxter Healthcare Corp and  is a consultant to Baxter and CSL Behring 2014 Dr Ousley has participated as a study examiner in a clinical trial sponsored by Biomarin

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