[P3-166] Risk factors and etiological characteristics of intellectual disability/global developmental delay in Chinese children: a prospective study
Intellectual disability/global developmental delay (ID/GDD) is at present the primary disabling cause in Chinese children, which is seriously affects the quality of the patients’ life. However, because of different social and economic environment from western countries, the data of high risk factors and etiological characteristics are lack in Chinese population. Herein, we conducted a prospective study in 103 Chinese children with different severity of ID/GDD through medical history collection, metabolic screening, karyotype analysis, genome-wide CNVs detection and relevant molecular tests. Results showed that the group of children with mild ID/GDD accounted for 71.8% (74/103). About 16.5% (17/103) of the ID/GDD children were affected by perinatal factors including neonatal asphyxia, preterm labor, intracranial hemorrhage and bilirubin encephalopathy. Maternal history of abnormal pregnancy and adverse family history were two of the highest risk factors. Children were more prone to develop severe mental retardation if there was consanguineous marriage or unexplained death or mental disorder or epilepsy within three generations (p < 0.05). If parents’ reproductive age was older than 40 years old, their children were prone to develop severe ID/GDD compare to those parents at 20-30 years of age (p < 0.05). Chromosomal abnormalities, including abnormal karyotype and/or CNVs, are the most common genetic risk factors, accounting for 28.2% (29/103). This study addressed the importance of high risk factors and etiological characteristics, which are critical to take corresponding steps including strengthening pregnancy care and high-risk maternal labor monitoring to improve early intervene of ID/GDD patients in Chinese population.