Metabolic evaluation of children with global developmental delay
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Eun, S.-H. | - |
dc.contributor.author | Hahn, S.H. | - |
dc.date.accessioned | 2021-09-05T00:01:31Z | - |
dc.date.available | 2021-09-05T00:01:31Z | - |
dc.date.created | 2021-06-17 | - |
dc.date.issued | 2015 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/95957 | - |
dc.description.abstract | Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the “treatable” causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes. © 2015 by The Korean Pediatric Society. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | Korean Pediatric Society | - |
dc.subject | methyl CpG binding protein | - |
dc.subject | Apgar score | - |
dc.subject | clinical assessment | - |
dc.subject | congenital disorder of glycosylation | - |
dc.subject | cost effectiveness analysis | - |
dc.subject | developmental disorder | - |
dc.subject | electroencephalography | - |
dc.subject | environmental factor | - |
dc.subject | fluorescence in situ hybridization | - |
dc.subject | functional neuroimaging | - |
dc.subject | gene technology | - |
dc.subject | global developmental delay | - |
dc.subject | hepatosplenomegaly | - |
dc.subject | human | - |
dc.subject | inborn error of metabolism | - |
dc.subject | intellectual impairment | - |
dc.subject | mass spectrometry | - |
dc.subject | metabolic disorder | - |
dc.subject | microarray analysis | - |
dc.subject | neurologic disease | - |
dc.subject | newborn screening | - |
dc.subject | next generation sequencing | - |
dc.subject | nuclear magnetic resonance imaging | - |
dc.subject | nuclear magnetic resonance spectroscopy | - |
dc.subject | outcome assessment | - |
dc.subject | phakomatosis | - |
dc.subject | Review | - |
dc.subject | teratology | - |
dc.title | Metabolic evaluation of children with global developmental delay | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Eun, S.-H. | - |
dc.identifier.doi | 10.3345/kjp.2015.58.4.117 | - |
dc.identifier.scopusid | 2-s2.0-84927724527 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, v.58, no.4, pp.117 - 122 | - |
dc.relation.isPartOf | Korean Journal of Pediatrics | - |
dc.citation.title | Korean Journal of Pediatrics | - |
dc.citation.volume | 58 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 117 | - |
dc.citation.endPage | 122 | - |
dc.type.rims | ART | - |
dc.type.docType | Review | - |
dc.identifier.kciid | ART001982873 | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.subject.keywordPlus | methyl CpG binding protein | - |
dc.subject.keywordPlus | Apgar score | - |
dc.subject.keywordPlus | clinical assessment | - |
dc.subject.keywordPlus | congenital disorder of glycosylation | - |
dc.subject.keywordPlus | cost effectiveness analysis | - |
dc.subject.keywordPlus | developmental disorder | - |
dc.subject.keywordPlus | electroencephalography | - |
dc.subject.keywordPlus | environmental factor | - |
dc.subject.keywordPlus | fluorescence in situ hybridization | - |
dc.subject.keywordPlus | functional neuroimaging | - |
dc.subject.keywordPlus | gene technology | - |
dc.subject.keywordPlus | global developmental delay | - |
dc.subject.keywordPlus | hepatosplenomegaly | - |
dc.subject.keywordPlus | human | - |
dc.subject.keywordPlus | inborn error of metabolism | - |
dc.subject.keywordPlus | intellectual impairment | - |
dc.subject.keywordPlus | mass spectrometry | - |
dc.subject.keywordPlus | metabolic disorder | - |
dc.subject.keywordPlus | microarray analysis | - |
dc.subject.keywordPlus | neurologic disease | - |
dc.subject.keywordPlus | newborn screening | - |
dc.subject.keywordPlus | next generation sequencing | - |
dc.subject.keywordPlus | nuclear magnetic resonance imaging | - |
dc.subject.keywordPlus | nuclear magnetic resonance spectroscopy | - |
dc.subject.keywordPlus | outcome assessment | - |
dc.subject.keywordPlus | phakomatosis | - |
dc.subject.keywordPlus | Review | - |
dc.subject.keywordPlus | teratology | - |
dc.subject.keywordAuthor | Developmental disabilities | - |
dc.subject.keywordAuthor | Inborn errors | - |
dc.subject.keywordAuthor | Metabolism | - |
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