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 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 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 the optimization of surgical procedures for laryngotracheal stenosis and its effect analysis.Methods:The data of 32 patients with acquired laryngotracheal stenosis who received surgical treatment from October 2015 to December 2021 were analyzed retrospectively. The age ranged from 19 to 72 years, with an average of (34.0±9.0) years. The medical history ranged from 1 to 32 months (median 3 months). As for etiology, there were 30 cases of iatrogenic laryngotracheal stenosis, including 20 cases of tracheal intubation and 10 cases of tracheotomy (7 cases of percutaneous tracheotomy and 3 cases of traditional tracheotomy). There were 1 case of laryngotracheal trauma and 1 case of airway Penicillium marneffei infection. According to Myer-Cotton grading system, grade Ⅳ stenosis was found in 14 cases, including 12 cases involving trachea and 2 cases involving trachea and subglottic area.There were 18 cases of grade Ⅲ, all of which involved the cervical trachea 5 cases failed in operation in other hospitals. According to stenosis grading, course of disease, primary disease control and the patient′s general condition, the surgical plan was determined individually. The operations of end-to-end anastomosis, circumferential tracheal partial resection, T-tube placement and CO 2 laser tracheal scar resection were performed respectively. The recovery of airway function and perioperative complications were observed one year after operation. Results:End-to-end anastomosis was performed in 16 cases, and partial circumferential tracheal resection in 2 cases, and tracheal granulation (scar) resection by CO 2 laser in 2 cases and T-tube insertion in 12 cases. Eighteen cases which performed end-to-end anastomosis, partial resection of circumferential trachea in and 2 cases which performed laser tracheal scar resection were all recovered airway function at one stage. After 1 year, 19 cases were cured and 1 case was effective. Of 12 patients with T tube implantation, 11 cases were successfully extubated after 6-12 months, 7 cases were cured after 1 year, 2 cases were effective and 3 cases were ineffective. Among the 3 cases of failure, 2 cases were successfully extubated by sleeve resection and end-to-end anastomosis in the second stage, and the other case refused to accept other treatment methods and the T-tube was placed again, and the tube was blocked and the patient survived. During the follow-up period, the total cure rate was 87.5%, the effective rate was 9.4%, and the total extubation rate was 96.9%.The most common complication was subcutaneous emphysema, accounting for 78% (25/32), but no serious mediastinal emphysema or pneumothorax occurred. In the T-tube implantation group, granulation tissue grew in different degrees around the neck wound after operation, and improved or disappeared after 6-9 months. Anterior cervical tracheal fistula occurred in 4 cases of T-tube implantation group after extubation, which were cured by sealing the stoma. There were no complications such as severe bleeding or perioperative death. Conclusion:When there were various factors, the optimization of the surgical plan according to the degree of stenosis, the course of disease, the control of primary disease and the general condition was an important guarantee to improve the curative effect of laryngotracheal stenosis.

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