Objective To investigate the clinical features,magnetic resonance imaging (MRI),treatment,and follow-up of patients with glutaric aciduria type Ⅰ (GA-1).Methods Four pediatric patients with GA-1 diagnosed in our hospital were included in this study.They were treated with special diets and carnitine supplements.MRI and tandem mass spectrometry (MS/MS) were performed,and the mental development indices were measured.Results GA-1 was confirmed 2 months,13 months,4 months,and 7 months after birth.Seizure had been observed before the disease diagnosis in three patients and disappeared after treatment.In all four patients,T2-weighted brain MRI showed frontotemporal atrophy or hypoplasia and enlarged subarachnoid space in the sylvian fissures and anterior to the temporal lobes.Diffusion weighted imaging revealed high-density lesions over both the putamen and globus pallidus.The patients were followed up for 4 to 5 years.Plasma amino acids and acylcamitine profile were monitored every 3-5 months.The mean C5DC level and C5DC/C8 were kept the higher limits of the normal ranges,especially in case 3.During the follow-up,the body weight was at-2 SD-0 and the height at-1 SD-0.Intellectual development test showed that case 1 and case 4 had mildly abnormal intelligence,whereas case 2 and case 3 had extremely severe intellectual disability.Gene test confirmed the presence of gene mutations in all four cases,including IVS10-2A ＞ C homozygous mutation in cases 1,3,and 4 and [IVS10-2A ＞ C] + [c.245G ＞c(p.Arg82Pro)] hybrid mutation in case 2.Two female children were smoothly enrolled by local kindergarten,while two male children were unable to walk alone due to delayed motor development and spastic paralysis.Conclusions The phenotype of GA-1 patients is not remarkably correlated with its genotype correlation.Newborn screening is essential for identifying GA-1 patients.

Objective:To investigate the psychological crisis status of parents of pediatric bipolar disorder (PBD) patients and establish a risk prediction model, in order to provide a reference for medical workers to screen parents' mental health status early.Methods:This study was a cross-sectional study. Using the convenient sampling method, a total of 478 parents of children with PBD who were treated in the Second Affiliated Hospital of Wenzhou Medical University in Zhejiang Province from January 2020 to May 2021 were selected as the research subjects. They were randomly divided into the modeling group ( n=318) and the validation group ( n=160) in a ratio of 2∶1. Questionnaires were conducted using general information questionnaires and Symptom Self-rating Scale. Univariate analysis and logistic regression were used to analyze the influencing factors of psychological crisis in the modeling group, and H- L test and receiver operating characteristic curve were used to verify the predictive performance of the model. Results:The detection rate of psychological crisis among the parents of 318 children with PBD was 25.7%, of which the detection rate was 26.1% in the modeling group and 25.0% in the validation group. First onset ( OR=2.337, P<0.05) , parental gender ( OR=1.846, P<0.05) , conscious care burden ( OR=3.527, P<0.05) , religious belief ( OR=3.113, P<0.05) and children's age ( OR=1.969, P<0.05) were independent predictors of psychological crisis in parents of children with PBD. Conclusions:Medical workers need to be good at observing the psychological status of parents of children, predict the risk of psychological crisis in parents in advance and timely conduct targeted interventions according to the risk level, so as to improve the psychological adaptability of parents and improve their mental health.

Objective:To investigate the psychological crisis status of parents of pediatric bipolar disorder (PBD) patients and establish a risk prediction model, in order to provide a reference for medical workers to screen parents' mental health status early.Methods:This study was a cross-sectional study. Using the convenient sampling method, a total of 478 parents of children with PBD who were treated in the Second Affiliated Hospital of Wenzhou Medical University in Zhejiang Province from January 2020 to May 2021 were selected as the research subjects. They were randomly divided into the modeling group ( n=318) and the validation group ( n=160) in a ratio of 2∶1. Questionnaires were conducted using general information questionnaires and Symptom Self-rating Scale. Univariate analysis and logistic regression were used to analyze the influencing factors of psychological crisis in the modeling group, and H- L test and receiver operating characteristic curve were used to verify the predictive performance of the model. Results:The detection rate of psychological crisis among the parents of 318 children with PBD was 25.7%, of which the detection rate was 26.1% in the modeling group and 25.0% in the validation group. First onset ( OR=2.337, P<0.05) , parental gender ( OR=1.846, P<0.05) , conscious care burden ( OR=3.527, P<0.05) , religious belief ( OR=3.113, P<0.05) and children's age ( OR=1.969, P<0.05) were independent predictors of psychological crisis in parents of children with PBD. Conclusions:Medical workers need to be good at observing the psychological status of parents of children, predict the risk of psychological crisis in parents in advance and timely conduct targeted interventions according to the risk level, so as to improve the psychological adaptability of parents and improve their mental health.