Whitaker Ashley M, Thomas Nina Hattiangadi, Krivitzky Lauren S, Ficicioglu Can H
a Department of Child and Adolescent Psychiatry and Behavioral Sciences , The Children's Hospital of Philadelphia (CHOP) , Philadelphia , Pennsylvania , USA.
b Department of Pediatrics, Division of Human Genetics , CHOP , Philadelphia , Pennsylvania.
Appl Neuropsychol Child. 2018 Apr-Jun;7(2):143-149. doi: 10.1080/21622965.2016.1270211. Epub 2017 Jan 10.
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.
钴胺素C（CblC）病是最常见的钴胺素代谢先天性缺陷，最近的数据表明，尤其是在西班牙裔儿童中患病率更高。本研究的目的是：（a）描述患有CblC病的西班牙裔儿童试点样本的神经心理学特征；（b）根据潜在的基因突变和生化水平探索结果的潜在差异。通过新生儿筛查（NBS）被诊断为CblC病的六名西班牙裔儿童（年龄2至10岁）接受了由一名双语检查人员进行的神经心理学评估。通过病历获取生化水平和潜在的突变情况。整个样本在神经心理学领域的表现低于正常预期，包括一般认知、适应功能、语言能力和视动整合。发现潜在突变和相关临床表型可显著预测一般认知能力，而诊断时的血浆蛋氨酸和同型半胱氨酸与语言结果显著相关。尽管样本量有限，但结果表明，通过NBS检测出并早期接受治疗的患有CblC病的西班牙裔儿童即使接受当前标准治疗也会出现神经心理学缺陷。然而，与先前对非西班牙裔CblC病儿童的研究一致，潜在突变和早期生化水平也可能预测该人群更好的结果。
