ArticleJournal of biomedicine & biotechnology2011
Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.
Article in Journal of biomedicine & biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
5 citing papers in PubMed, 2 syntheses or guidelines pooled it, 9 citations in OpenAlex.
- Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.Epileptic disorders : international epilepsy journal with videotape · 2026Pooled it
- Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.Journal of inherited metabolic disease · 2019Pooled it
- Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.Indian journal of pediatrics · 2025Article
- Socio-Epidemiological Factors with Negative Impact on Infant Morbidity, Mortality Rates, and the Occurrence of Birth Defects.Healthcare (Basel, Switzerland) · 2021Review
- Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications.BMC pediatrics · 2019Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including inborn errors of metabolism (IEM) and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, gas chromatography-mass spectrometry (GC-MS), and tandem mass spectrometry (MS-MS), proved to be substantially helpful for the exploration of the NDD etiologies in this clinical investigation. The findings in this paper provided latest epidemiologic information on the etiology distribution of NDDs in Chinese, and the syndromic NDDs caused by citrin deficiency and the novel chromosomal karyotype, respectively, further expanded the etiology spectrum of NDDs.
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