title: Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
abstract: Cobalamin C (CblC) disease is the most common inborn error of cobalamin metabolism and recent data has indicated a higher prevalence among children of Hispanic heritage in particular. The purpose of this study was to (a) describe the neuropsychological characteristics of a pilot sample of Hispanic children with CblC disease and (b) explore potential differences in outcome based on underlying genetic mutation(s) and biochemical levels. Six Hispanic children (ages 2-10) diagnosed with CblC disease through newborn screening (NBS) underwent neuropsychological evaluation with a bilingual examiner. Biochemical levels and underlying mutation(s) were obtained through medical records. The overall sample performed below normative expectations across neuropsychological domains, including general cognition, adaptive functioning, language ability, and visual-motor integration. Underlying mutations and associative clinical phenotypes were found to significantly predict general cognitive abilities, while plasma methionine and Hcy at the time of diagnosis were significantly correlated with language outcomes. Despite limited sample size, results indicate that Hispanic children with CblC disease detected through NBS and treated early experience neuropsychological deficits even when treated with current standard treatments. However, consistent with prior research in non-Hispanic children with CblC disease, underlying mutations and early biochemical levels may predict better outcomes in this population as well.
authors.affiliation: a Department of Child and Adolescent Psychiatry and Behavioral Sciences , The Children's Hospital of Philadelphia (CHOP) , Philadelphia , Pennsylvania , USA.
authors.forename: Ashley M
authors.initials: AM
authors.lastname: Whitaker
authors.affiliation: a Department of Child and Adolescent Psychiatry and Behavioral Sciences , The Children's Hospital of Philadelphia (CHOP) , Philadelphia , Pennsylvania , USA.
authors.forename: Nina Hattiangadi
authors.initials: NH
authors.lastname: Thomas
authors.affiliation: a Department of Child and Adolescent Psychiatry and Behavioral Sciences , The Children's Hospital of Philadelphia (CHOP) , Philadelphia , Pennsylvania , USA.
authors.forename: Lauren S
authors.initials: LS
authors.lastname: Krivitzky
authors.affiliation: b Department of Pediatrics, Division of Human Genetics , CHOP , Philadelphia , Pennsylvania.
authors.forename: Can H
authors.initials: CH
authors.lastname: Ficicioglu
mesh_terms: D000367:Age Factors; D019540:Area Under Curve; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006630:Hispanic or Latino; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007805:Language Development Disorders / Q000209:etiology; D008297:Male; D008715:Methionine / Q000097:blood; D015997:Neonatal Screening; D009483:Neuropsychological Tests; D014805:Vitamin B 12 / Q000235:genetics / Q000378:metabolism; D014806:Vitamin B 12 Deficiency / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D008715:Methionine; D014805:Vitamin B 12
keywords: Cobalamin; Hispanic; cognitive development; metabolism; newborn screening