ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Prevalence of prolonged transitional neonatal hypoglycemia and associated factors in Ethiopia: A systematic review and meta-analysis.PloS one · 2025Pooled it
- Severe Vitamin D Deficiency as a Trigger for Metabolic Seizures in Infancy: A Case Series and a Comprehensive Review of the Literature.Nutrients · 2026Review
- Article
- 22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus Spontaneously.Genes · 2026Article
- Flexible read-aware genotype imputation from sequence using biobank sized reference panels.Nature communications · 2025Article
- Article
- Primary and secondary defects of the thymus.Immunological reviews · 2024Review
- Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.American journal of obstetrics and gynecology · 2024Article
- Exploring the origins of neurodevelopmental proteasomopathies associated with cardiac malformations: are neural crest cells central to certain pathological mechanisms?Frontiers in cell and developmental biology · 2024Article
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.Orphanet journal of rare diseases · 2023Article
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.International journal of molecular sciences · 2023Review
- Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations.Frontiers in genetics · 2023Article
- A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening.Case reports in genetics · 2023Article
- Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results.Prenatal diagnosis · 2022Article
- Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- Variants of significance: medical genetics and surgical outcomes in congenital heart disease.Current opinion in pediatrics · 2020Review
- Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases.Open life sciences · 2020Article
- Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
purposeHypocalcemia is a common endocrinological condition in 22q11.2 deletion syndrome. Neonatal hypocalcemia may affect neurodevelopment. We hypothesized that neonatal hypocalcemia would be associated with rare, more severe forms of intellectual disability in 22q11.2 deletion syndrome.
methodsWe used a logistic regression model to investigate potential predictors of intellectual disability severity, including neonatal hypocalcemia, neonatal seizures, and complex congenital heart disease, e.g., interrupted aortic arch, in 149 adults with 22q11.2 deletion syndrome. Ten subjects had moderate-to-severe intellectual disability.
resultsThe model was highly significant (P < 0.0001), showing neonatal seizures (P = 0.0018) and neonatal hypocalcemia (P = 0.047) to be significant predictors of a more severe level of intellectual disability. Neonatal seizures were significantly associated with neonatal hypocalcemia in the entire sample (P < 0.0001), regardless of intellectual level. There was no evidence for the association of moderate-to-severe intellectual disability with other factors such as major structural brain malformations in this sample.
conclusionThe results suggest that neonatal seizures may increase the risk for more severe intellectual deficits in 22q11.2 deletion syndrome, likely mediated by neonatal hypocalcemia. Neonatal hypocalcemia often remains unrecognized until the postseizure period, when damage to neurons may already have occurred. These findings support the importance of early recognition and treatment of neonatal hypocalcemia and potentially neonatal screening for 22q11.2 deletions.
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