Objective: To explore susceptibility genes for autism spectrum disorders (ASD). Methods: Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates. Results: A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2 (0.8146)] and four medium-confidence genes [ERBB2 (0.1322), LAMC3 (0.1117), PPFIA4 (0.1059), DISC1 (0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO: 0048812), regulation of neuroblast proliferation (GO: 1902692), modulation of excitatory postsynaptic potential (GO: 0098815), and dendrite morphogenesis (GO: 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes. Conclusion Abnormal neuron projection morphogenesis (GO: 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.

Objective To explore the behavioral problems of autistic children and their parents' autistic trait and the relationship with the family function.Methods A total of 29 autism families were from West China Hospital from July 2014 to September 2015,and 30 normal families were recruited as the controls.Every family had one child and a pair of parents.All the parents were asked to finish the Autism Spectrum Quotient(AQ),and the mothers were asked to finish the Achenbach Child Behavior Checklist Quality (CBCL)and Family Assessment Device (FAD).Additionally,the autistic children's primary caregivers also received an autism diagnostic interview to provide the details of the autistic features of their children.For the research,rank sun test,t-test,chi-square test and Spearman correlation analysis were used.Results (1) The general average score of each dimension in FAD for autistic families was significantly higher than that for control families(Z=-5.368--3.037,P＜0.01);AQ social skills of fathers of autistic children was higher than that of controls'(3.86± 1.43 vs.2.73± 1.20; Z=-3.109,P＜0.01).AQ social skills (3.66±1.26 vs.2.23±1.25) and communication (2.72±1.75 vs.1.57±1.38)of mothers of autistic children was significantly higher than that of controls' (Z=-3.151,-2.231,both P＜0.05).The subscales of social problems,compulsive,withdraw and hyperactivity of the autistic children was significantly higher than that of the controls(Z=-4.554,-3.872,-5.260,-3.764,all P＜0.01).(2)The CBCL subscales of autistic children (schizoidia and total scores) and the FAD total scores was positively correlated (r=0.712,0.657,both P＜0.01),and compulsive cores,AQ communication of mothers of autistic children and AQ social skills of fathers and FAD problem solving was positively correlated (r=0.626,0.580,0.574,all P＜0.01).Conclusions Autistic children's family function exists many problems,which may be correlated with autistic children's behavioral problems and parents' autistic trait,especially problem solving domain.

Objective To explore the behavioral problems of autistic children and their parents' autistic trait and the relationship with the family function.Methods A total of 29 autism families were from West China Hospital from July 2014 to September 2015,and 30 normal families were recruited as the controls.Every family had one child and a pair of parents.All the parents were asked to finish the Autism Spectrum Quotient(AQ),and the mothers were asked to finish the Achenbach Child Behavior Checklist Quality (CBCL)and Family Assessment Device (FAD).Additionally,the autistic children's primary caregivers also received an autism diagnostic interview to provide the details of the autistic features of their children.For the research,rank sun test,t-test,chi-square test and Spearman correlation analysis were used.Results (1) The general average score of each dimension in FAD for autistic families was significantly higher than that for control families(Z=-5.368--3.037,P＜0.01);AQ social skills of fathers of autistic children was higher than that of controls'(3.86± 1.43 vs.2.73± 1.20; Z=-3.109,P＜0.01).AQ social skills (3.66±1.26 vs.2.23±1.25) and communication (2.72±1.75 vs.1.57±1.38)of mothers of autistic children was significantly higher than that of controls' (Z=-3.151,-2.231,both P＜0.05).The subscales of social problems,compulsive,withdraw and hyperactivity of the autistic children was significantly higher than that of the controls(Z=-4.554,-3.872,-5.260,-3.764,all P＜0.01).(2)The CBCL subscales of autistic children (schizoidia and total scores) and the FAD total scores was positively correlated (r=0.712,0.657,both P＜0.01),and compulsive cores,AQ communication of mothers of autistic children and AQ social skills of fathers and FAD problem solving was positively correlated (r=0.626,0.580,0.574,all P＜0.01).Conclusions Autistic children's family function exists many problems,which may be correlated with autistic children's behavioral problems and parents' autistic trait,especially problem solving domain.

OBJECTIVETo explore the relationship between the behavior phenotypes of patients with autism spectrum disorder (ASD) and their parents through family study.

METHODSForty-five core families with ASD and 30 control families from Chengdu area were examined using Autism Spectrum Quotient (AQ). Descriptive statistical analysis, correlation analysis, and Logistic regression analysis were used to investigate the effect of various factors, especially genetic factors that may affect the pathogenesis of ASD.

RESULTSThe social skills factor and communication factor of the father's AQ scale, as well as the mother's age of childbearing and AQ social skills factor are related to whether children with ASD (R were 0.46, 0.39, 0.39 and 0.36, P<0.05). The communication factor of the parents' AQ and mother's attention to detail factor are related to whether children will show developmental anomaly before the age of 36 months (R were 0.55, 0.51 and 0.54, P<0.05). The social skill problems of parents and father's communication problems are risk factors for children with autism.

CONCLUSIONASD may be influenced by both genetic and environmental factors. The autistic behavior phenotype of parents is a risk factor for ASD and is associated with developmental anomalies of early childhood.

Adult ; Autism Spectrum Disorder ; diagnosis ; genetics ; psychology ; Child ; Child Behavior ; psychology ; Child, Preschool ; Communication ; Female ; Humans ; Infant ; Interviews as Topic ; Logistic Models ; Male ; Parents ; psychology ; Phenotype ; Social Behavior ; Surveys and Questionnaires