Table of Contents Author Guidelines Submit a Manuscript
Journal of Biomedicine and Biotechnology
Volume 2011, Article ID 318616, 11 pages
Research Article

Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China

1Department of Pediatrics, The First Affiliated Hospital, Jinan University, No.613, Huangpu Dadao Xi, Guangzhou 510630, China
2Guangzhou Neonatal Screening Center, Guangzhou Women and Children's Medical Center, Guangzhou 510180, China
3Institute of Reproduction and Stem Cell Engineering, Xiangya School of Medicine, Central South University, Changsha 410078, China
4Department of Pediatric Neurorehabilitation, Nanhai Maternity and Child Care Hospital, Guangzhou University of Chinese Medicine, Foshan 528200, China
5Department of Research and Development, Matsumoto Institute of Life Science International, Kanazawa 921-8154, Japan
6Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan
7Department of Gynecology and Obstetrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China

Received 13 May 2010; Accepted 30 July 2010

Academic Editor: Veikko Salomaa

Copyright © 2011 Li Guo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.