Development and initial validation of the child intermittent Exotropia Questionnaire among child strabismus patients

Objectives:To translate the Child Intermittent Exotropia Questionnaire(Child-IXTQ)from English to Chinese and to evaluate its reliability and validity in Chinese childhood strabismus patients.Method:A consecutive sample of 143 child strabismus patients was recruited from the Department of Ophthalmology at a medical center in Southwest China.In addition,100 visually normal adults and 100 patients with other eye diseases were recruited.The Brislin translation model was followed to develop the Chinese version of Child-IXTQ.Reliability was established using Cronbach's a and test-retest.Validity was established encompassing content validity,construct validity,convergent validity,criterion-related validity and discriminative validity.Results:The correlation coefficients between each item score with the total score ranged from 0.370 to 0.813.Two subscales were extracted by principal component analysis,with a content validity of 0.91.The correlation coefficients between two factor scores with the total score were 0.709 and 0.939.Criterion-related validity was estimated by the correlating the Child-IXTQ with the PedsQL 4.0,and the correlation coefficient was 0.522.In addition,the Child-IXTQ discriminated accurately between strabismus patients and normal children,or children with other eye diseases that possessed good discriminative validity.Cronbach's a coefficient for the internal consistency was 0.907 and the test-retest reliability was 0.962.Conclusions:Our study indicates that the Child-IXTQ is a reliable and valid instrument for assessing the health-related quality of life among children with strabismus.

Whole-exome sequencing of a multicenter cohort identifies genetic changes associated with clinical phenotypes in pediatric nephrotic syndrome

Understanding the association between the genetic and clinical phenotypes in children with nephrotic syndrome(NS)of different etiologies is critical for early clinical guidance.We employed whole-exome sequencing(WES)to detect monogenic causes of NS in a multicenter cohort of 637 patients.In this study,a genetic cause was identified in 30.0%of the idiopathic steroid-resistant nephrotic syndrome(SRNS)patients.Other than congenital nephrotic syndrome(CNS),there were no significant differences in the incidence of monogenic diseases based on the age at manifestation.Causative mutations were detected in 39.5%of patients with focal segmental glomerulosclerosis(FSGS)and 9.2%of those with minimal change disease(MCD).In terms of the patterns in patients with different types of steroid resistance,a single gene mutation was identified in 34.8%of patients with primary resistance,2.9%with secondary resistance,and 71.4%of children with multidrug resistance.Among the various intensified immunosuppressive therapies,tacrolimus(TAC)showed the highest response rate,with 49.7%of idiopathic SRNS patients achieving complete remission.Idiopathic SRNS patients with monogenic disease showed a similar multidrug resistance pattern,and only 31.4%of patients with monogenic disease achieved a partial remission on TAC.During an average 4.1-year follow-up,21.4%of idiopathic SRNS patients with monogenic disease progressed to end-stage renal disease(ESRD).Collectively,this study provides evidence that genetic testing is necessary for presumed steroid-resistant and idiopathic SRNS patients,especially those with primary and/or multidrug resistance.