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

Objective To investigate the subtle changes of the brain function at olfactory region of MD patients with olfactory dysfunction at resting state, through the application of fMRI-BOLD. Methods This study enrolled 28 MD patients with olfactory dysfunction(Case group) who had been treated from February 2016 to March 2017, and 23 healthy volunteers (Control group) with matching gender, age and education background to the Case group.All subjects were examined by Symptoms Checklists-90(SCL-90), Hamilton Depression Rating Scale-24 (HAMD-24), 70% isopropyl alcohol inhalation test, and fMRI at resting state. The two independent samples t test was used to compare the two groups' educational years, psychological scales and olfactory test scores.Regional homogeneity(ReHo)analysis was conducted for the whole brain of subjects.The ReHo values at some brain regions of both groups were compared through two independent sample t-test.The ReHo values,extracted from the case group's brain regions with differences, were run through by Pearson correlation analysis.Results There was a negative correlation between the HAMD-24 score(r=-0.413,P=0.029)and the severity of olfactory decline in the MD patients with olfactory dysfunction.In addition,it was found by fMRI that Case group,as compared to Control group,demonstrate declined ReHo values at left orbital frontal gyrus(cluster=80,t=3.27),bilateral cingulate gyrus(right cluster=204,t=4.34,left cluster=204,t=3.63),bilateral middle frontal gyrus(right cluster=56,t=3.67,left cluster=28, t=3.50),rightinsular(cluster=40,t=3.53),bilateral amygdala(right cluster=76,t=3.66,left cluster=86,t=2.93),but increased ReHo values at bilateral inferior frontal gyrus(right cluster=44,t=3.62,left cluster=33,t=3.25), right thalamus(cluster=34, t=3.21)and bilateral gyri rectus(right cluster=45,t=3.78,left cluster=24,t=3.01)(AlphaSim correction,P<0.001).Moreover,there was a positive correlation between the ReHo value at left orbital frontal gyrus and the olfactory test distance(r=0.628,P<0.05).But the ReHo value at left orbital frontal gyruswas negatively correlated with HAMD-24 (r=-0.414,P=0.029). There was no correlation with other clinical data.Conclusion The abnormal brain functional activities of left orbital frontal gyrus at resting state might be related to the olfactory dysfunction of patients with depression.

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.

This patient suffered from severe subglottic stenosis(grade Ⅳb). During partial cricotracheal resection, we cut through the cricothyroid membrane and the cricoid arch along the line from the lower edge of the thyroid cartilage to 5 mm of the inferior thyroid cartilage corner anteromedially. This can protect the cricothyroid joint, effectively protect the recurrent laryngeal nerve, and also support the airway. Strictly adhere to airway separation, avoid excessive separation of scars, and combine with reasonable postoperative management to achieve a safe extubation.
Humans ; Constriction, Pathologic/surgery* ; Trachea/surgery* ; Airway Extubation ; Laryngostenosis/surgery* ; Larynx/surgery* ; Cricoid Cartilage/surgery* ; Treatment Outcome