Neurodevelopmental diseases are increasingly recognized to be caused by “de novo” variants with the expanding use of next‐generation sequencing. The apparent de novo variants may actually be low‐level hereditary parental mosaic variants, which could increase the recurrence risk of disease by >50% and is thought to be an underappreciated cause of neurodevelopmental diseases. Our study aimed to investigate the frequency of parental mosaicism in “de novo” neurodevelopmental diseases. A total of 237 patients (and parents) with neurodevelopmental diseases carrying apparent de novo pathogenic or likely pathogenic variants were recruited consecutively. Deep next‐generation sequencing was performed on parental samples to identify parental mosaicism. Fourteen parental disease‐causing mosaicism variants (3.0%) in 11 genes were detected with alternate allele frequency (AAF) 0.22%–34%. Three parents showed milder clinical phenotypes than their offspring with relatively high AAF (23.33%, 25%, 34% separately). One recurrent variant was identified prenatally. A review of cohort study on parental mosaicism in neurodevelopmental diseases was performed. Our study highlights that identifying the parental mosaic disease‐causing variants especially the low‐level mosaicism will contribute to improving the accuracy of genetic counseling and prenatal diagnosis for reproductive risks.
Background Physical activity and eating behavior are associated with hypertension in children and adolescents. Revealing the associations between physical activity patterns, eating behavior patterns and high blood pressure (HBP) could help improve the problem of hypertension from the actual children’s physical activities and eating behaviors. Methods The students aged 8–15 years was selected from two nine-year primary and secondary schools using stratified cluster random sampling method. The students’ body height, weight, systolic blood pressure (SBP) and diastolic blood pressure (DBP) were measured, and their physical activity time and eating behaviors were surveyed by using CLASS questionnaire and self-made eating behavior questionnaire. Exploratory factor analysis (EFA) was used to extract moderate-high intensity physical activity factor (MHPAF), sedentary physical activity factor (SPAF), healthy eating behavior factor (HEBF), unhealthy eating behavior factor (UHEBF). MHPAF ≥ SPAF was defined as moderate-high intensity physical activity pattern (MHPAP), MHPAF < SPAF was defined as sedentary physical activity pattern (SPAP). HEBF ≥ UHEBF was defined as healthy eating behavior pattern (HEBP), while the opposite was defined as unhealthy eating behavior pattern (UHEBP). Results The MHPAF and UHEBF in boys were significantly higher than those in girls (P < 0.01), while the SPAF in girls was significantly higher than that in boys (P < 0.05). The SPAF was positively correlated with SBP in girls (β (SE) = 1.36 (0.50), P = 0.07), and was positively correlated with SBP (β (SE) = 4.81 (1.22), P < 0.001) and DBP (β (SE) = 1.36 (0.49), P = 0.006) in boys. The MHPAF was negatively correlated with DBP (β(SE)=-0.94 (0.41), P = 0.022) in boys. In boys, the SPAP increased the risks of HBP (OR (95% CI):3.34 (1.30–8.63)) and high DBP (OR (95% CI):3.08 (1.02–9.34)) compared with MHPAP. Conclusion Compared with the boys with MHPAP, boys with SPAP may increase the risks of HBP and high DBP. The SPAF may be positively associated with SBP in boys and girls, while the MHPAF may be negatively associated with DBP in boys.
Background Body image dissatisfaction and aggressive behavior have become important public health problem in children and adolescents, and body image dissatisfaction may increase the occurrence of aggressive behavior. The aim of this study was to explore the correlation between body image dissatisfaction and aggressive behavior among Chinese children in different developmental stages. Methods The stratified cluster sampling method was used to effectively survey 518 children aged 8–15 years. The Body Shape Questionnaire and the Buss-Warren Aggressive Questionnaire scale were used to measure body image dissatisfaction and aggressive behavior. Pubertal development stages were divided into three stages according to Tanner criteria. Results There was a main correlation path of body image dissatisfaction - hostility - anger - indirect aggression - physical aggression in boys with stage I and stage II and in girls with stage I and stage III. In addition, there were direct paths of hostility - indirect aggression, hostility - verbal aggression, anger - physical aggression, and anger - verbal aggression in boys with stage I; hostility - indirect aggression, hostility - verbal aggression, and anger - physical aggression in boys with stage II and in girls with stage I; and anger - physical aggression, and anger - verbal aggression in girls with stage III. Conclusion Body image dissatisfaction might positively correlate with aggression through hostility among Chinese children and adolescents, and their association paths were different in different puberty stages.
ObjectiveChildren at different developmental stages show different physical development and psychological cognitive characteristics and may pay different attention to body parts. The purpose of this study was to analyze the associations between body image dissatisfaction (BID) and body anthropometric indices (BAIs) among Chinese children and adolescents at different developmental stages.MethodsA total of 609 Chinese primary and secondary school students aged 8–15 years (329 boys and 280 girls) were selected using stratified cluster sampling. The students' body height, sitting height (SH), weight, chest circumference (CC), hip circumference (HC), waist circumference (WC), scapular skinfold thickness (SST), triceps skinfold thickness (TST), and abdominal skinfold thickness (AST) were measured. Boys' testicular volumes and first spermatorrhea and girls' breast measures and menarche were assessed using the Tanner stage standard. A body shape questionnaire (BSQ) was used to survey the subject's BID.ResultsIn boys with testicular volume < 4 ml, the hip-to-height ratio (HHR) was positively correlated with BSQ score (β = 8.17, P < 0.01). In boys with testicular volume ≥4 ml and nonfirst spermatorrhea, the HHR and SST were positively correlated with BSQ score (β = 2.51, P = 0.04; β = 4.98, P < 0.01). In boys with first spermatorrhea, weight was positively correlated with BSQ score (β = 10.30, P < 0.01). In girls with breast development < Tanner stage II, waist-to-height ratio (WHtR) was positively correlated with BSQ score (β = 5.12, P < 0.01); In girls with breast development ≥ Tanner stage II and nonmenarche, chest-to-sitting height ratio (CSHR) was positively correlated with BSQ score (β = 10.82, P < 0.01), and waist-to-hip ratio (WHR) was negatively correlated with BSQ score (β = −3.61, P = 0.04). In girls with menarche, WHtR and sitting height-to-height ratio (SHHR) were positively correlated with BSQ score (β = 6.09, P < 0.01; β = 2.05, P = 0.02).ConclusionThe associations between body image dissatisfaction and anthropometric indices among Chinese children and adolescents at different developmental stages are different.
BackgroundNegative gender cognitive attitudes (disliking one’s own gender or wanting to be the opposite gender) and unhealthy eating behaviors have become common in Chinese children and adolescents. The aim of this study was to analyze the associations between negative gender attitudes and eating behaviors among Chinese children and adolescents.MethodsPrimary and secondary school students aged 8–15 years were selected as participants using a stratified cluster random sampling method. The self-designed questionnaire was used to investigate the participants’ negative gender cognitive attitudes. Eating frequency questionnaire was used to investigate participants’ eating behaviors. Under the leading reading of standardized training investigators, the questionnaire for children aged 8–15 years was completed by themselves in the form of centralized filling.ResultsA total of 6.5% [43/657, boys: 6.1% (21/347), girls: 7.1% (22/310)] of children disliked their own gender, 8.8% [58/657, boys: 5.5% (19/347), girls: 12.6% (39/310)] of children wanted to be of the opposite gender, and the proportion of girls with negative gender attitudes was higher than that of boys (P < 0.05). Boys who disliked their own gender or wanted to be the opposite gender had higher frequencies of unhealthy eating behaviors and lower frequencies of healthy eating behaviors than boys who liked their own gender or did not want to be the opposite gender (P < 0.05). Girls who disliked their own gender or wanted to be the opposite gender had higher frequencies of protein eating behaviors than girls who liked their own gender or did not want to be the opposite gender (P < 0.05). There was a significant interaction between disliking one’s own gender and wanting to be the opposite gender in midnight snack eating among boys (P < 0.05) and in carbonated drink and high protein eating behaviors among girls (P < 0.05).ConclusionBoys with negative gender cognitive attitudes express more unhealthy eating behaviors and fewer healthy eating behaviors; girls with negative gender cognitive attitudes exhibit more protein eating behaviors.
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