Patient's question:
Only then can he sit properly; now at 1 year old, he still cannot stand well on his own and can only walk with support; low muscle tone; excessive drooling recently. His ability to respond to people and objects is also poor. Recently, he was seen by Professor Huang Shaoping at the Second Affiliated Hospital of Xi'an Jiaotong University, and the diagnosis was mental retardation. Some screening tests were also conducted, suggesting it may be related to genetic metabolic diseases, and it is recommended to visit Xinhua Hospital for further screening.Doctor's answer:
1. The cause of psychomotor developmental delay is undetermined, which could be due to central nervous system degeneration caused by congenital intrauterine infection, genetic diseases, metabolic diseases, and so on;2. Considering your child's condition—1 year old, with motor, object response, language, and social interaction skills all at the level of the 9th month—blood ammonia levels should be noted in the tests, even though the increase is not significant. Therefore, amino acid metabolic diseases should be considered;
3. Additionally, your child should undergo tests for congenital intrauterine infections, such as TORCH infections, as well as assessments of glucose metabolism.