Objective:To analyze the assessment tools for quality of life of children with autism spectrum disorder (ASD) at home and abroad, so as to provide a basis for healthcare professionals to select and revise the assessment tools suitable for the quality of life of children with ASD in China.Methods:A scoping review method was used to systematically search the literature on quality of life assessment tools for children with ASD included in PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data, China Biology Medicine disc and VIP. The search period was from the establishment of the database to March 12, 2025. Literature that met the inclusion criteria was screened, basic information about the assessment tools was extracted, and the search results were reported in a normalized manner.Results:A total of 3 905 articles were retrieved and 29 articles were finally included. Eleven quality of life assessment scales for children with ASD were included, including two scales developed to characterize children with ASD.Conclusions:There is a wide variety of quality of life assessment tools for children with ASD, with good overall reliability and validity, but no standardized indigenous scales are developed in China. Existing quality of life assessment tools for children with ASD should be sinicized and improved, and localized assessment tools should be developed.

Objective:To analyze the assessment tools for quality of life of children with autism spectrum disorder (ASD) at home and abroad, so as to provide a basis for healthcare professionals to select and revise the assessment tools suitable for the quality of life of children with ASD in China.Methods:A scoping review method was used to systematically search the literature on quality of life assessment tools for children with ASD included in PubMed, Embase, Web of Science, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data, China Biology Medicine disc and VIP. The search period was from the establishment of the database to March 12, 2025. Literature that met the inclusion criteria was screened, basic information about the assessment tools was extracted, and the search results were reported in a normalized manner.Results:A total of 3 905 articles were retrieved and 29 articles were finally included. Eleven quality of life assessment scales for children with ASD were included, including two scales developed to characterize children with ASD.Conclusions:There is a wide variety of quality of life assessment tools for children with ASD, with good overall reliability and validity, but no standardized indigenous scales are developed in China. Existing quality of life assessment tools for children with ASD should be sinicized and improved, and localized assessment tools should be developed.

Objective:To explore the current status of medication adherence to immunosuppressants in lung transplant recipients and to analyze its correlation with medication beliefs and perceived social support.Methods:This was a cross-sectional study. From June 2022 to April 2023, totally 233 lung transplant recipients who were followed up in the Department of Lung Transplantation at China-Japan Friendship Hospital were selected by convenience sampling. The Basel Assessment of Adherence to Immunosuppressive Medications Scale (BAASIS), the Chinese version of the Beliefs about Medicines Questionnaire, and the Perceived Social Support Scale (PSSS) were used for the survey. Multiple linear regression analysis was conducted to explore the correlation between medication adherence to immunosuppressants, medication beliefs, and perceived social support in these lung transplant recipients.Results:A total of 233 questionnaires were distributed, with 213 valid responses received (91.42%). The incidence of non-adherence to immunosuppressants among the 213 transplant recipients was 41.78% (89/213), with the most common issue being not taking medication on time (27.23%, 58/213). Multiple linear regression analysis showed that age and perceived social support were influencing factors of medication adherence ( P<0.05) . Conclusions:The current level of medication adherence to immunosuppressants in lung transplant recipients is relatively poor. Medication adherence is correlated with age and the level of perceived social support. Healthcare providers should pay attention to medication adherence in younger patients and enhance their perceived social support to increase adherence to immunosuppressive medications.

OBJECTIVE: To explore the genetic basis for two children with sporadic neurofibromatosis type 1 (NF1) complicated with nephrotic syndrome (NS). METHODS: Clinical data of the children were collected. Both children were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing. RESULTS: Both children had café-au-lait macules, subaxillary freckle and Lisch nodules. Child 1 also had congenital tibiofibular pseudarthrosis on the left side. Genetic testing revealed that child 1 has harbored a heterozygous c.844C>T variant in the exon 8 of the NF1 gene, whilst child 2 has harbored a heterozygous c.1246C>T variant in the exon 11 of the NF1 gene. Both children were diagnosed with NF1 and have developed pronounced proteinuria, hypoalbuminemia, hypercholesterolemia and pitting edema at the ages of 3 and 10, respectively. Renal biopsy of child 2 has revealed minimal change nephropathy, and the diagnosis of nephrotic syndrome was established. Child 1 was treated with glucocorticoid, and child 2 was treated with glucocorticoid in combination with mycophenolate mofetil. The NS was relieved with no recurrence during 1 year's follow-up. CONCLUSION NF1 combined with NS is rare in the clinical settings. The prognosis of children with NF1 combined with minimal change nephropathy is relatively good. Detection of NF1 gene variant can facilitate early identification and diagnosis of NF1.
Child ; Humans ; Neurofibromatosis 1/genetics* ; Nephrotic Syndrome/genetics* ; Nephrosis, Lipoid ; Glucocorticoids ; Genetic Testing