Premonitory urges located in the tongue for tic disorder: Two case reports and review of literature.

BACKGROUND: Premonitory urges (PUs) was defined as the uncomfortable physical sensations of inner tension that can be relieved by producing movement responses. Nearly 70%-90% patients with Tourette syndrome reported experiences of PUs. CASE SUMMARY: In this paper, we present two cases of young patients with PUs located in their tongue, which is very rare and easily misdiagnosed in clinical work. Both two young patients complained of an itchy tongue and cannot help biting their tongue. These two cases were worth reporting because it was rare that PUs was the initial symptom and located in the tongue. The results indicated that PUs seem to play an important role in the generation of tics. CONCLUSION: Thus, PUs may be the first process, and an essential part, of the formation of tics.

Chinese children with autism: A multiple chemical elements profile in erythrocytes.

Several lines of evidence suggested that abnormal levels of certain chemical elements may contribute to the development of autism spectrum disorders (ASD). The present work aimed to investigate the multiple chemical elements profile in the erythrocytes of autistic versus typically developing children (TDC) of China. Analyses were carried out to explore the possible association between levels of elements and the risk as well as the severity of ASD. Erythrocyte levels of 11 elements (32%) among 34 detected elements in autistic group were significantly different from those in the TDC group. To our knowledge, this is the first study which compared the levels of rare earth elements in erythrocytes between children with or without ASD. Five elements including Pb, Na, Ca, Sb, and La are associated with the Childhood Autism Rating Scale (CARS) total score. Also, a series of tendencies were found in this research which was believed to affect auditory response, taste, smell, and touch, as well as fear or nervousness. It can be concluded that Chinese autistic children suffer from multi-chemical element imbalances which involves a complex combination of genetic and environmental factors. The results showed a significant correlation between abnormal levels of several chemical elements and the severity of the autistic syndrome. LAY SUMMARY: It is suggested that abnormal levels of some chemical elements may contribute to the development of autism spectrum disorders (ASD). In this work, the impact of element imbalances on the risk and severity of ASD was investigated, focusing on the analysis of abnormal levels of the multi-chemical elements profile in erythrocytes compared with typically developing children. Furthermore, the results showed a significant correlation between abnormal levels of several chemical elements and the severity of the autistic syndrome. Autism Res 2018, 11: 834-845. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

Alterations of White Matter Connectivity in Preschool Children with Autism Spectrum Disorder.

Purpose To investigate the topologic architecture of white matter connectivity networks in preschool-aged children with a diagnosis of autism spectrum disorder (ASD) versus typical development (TD). Materials and Methods Forty-two participants were enrolled, including 21 preschool children with ASD (14 male children and seven female children; mean age, 4.56 years ± 0.97 [standard deviation]) and 21 children with TD (11 males and 10 females; mean age, 5.13 years ± 0.82). The diagnosis of ASD was determined according to the Diagnostic and Statistical Manual of Mental Disorders Global Assessment of Functioning scores (mean score, 8.00 ± 0.50). All participants underwent diffusion-tensor imaging (DTI) and T2-weighted imaging on a 3-T magnetic resonance system. A graph theoretical analysis was applied to investigate the topologic organization of the brain network including global and local topologic parameters. Statistical analysis was then performed for the comparison between the groups. Results Compared with the TD group, children with ASD demonstrated shortened characteristic path length (t1 = 0.536, t2 = 0.534, t3 = 0.523, t4 = 0.510, and t5 = 0.501; P < .05) and increased global efficiency (t1 = 0.499, t2 = 0.497, t3 = 0.486, t4 = 0.473, and t5 = 0.465; P < .05) and clustering coefficient (t1 = 0.673, t2 = 0.750, t3 = 0.757, t4 = 0.738, and t5 = 0.741; P < .05). Significant increases in nodal efficiency were mainly found in left pallidum (0.037 vs 0.032, respectively; P < .01) and right caudate nucleus (0.037 vs 0.032, respectively; P < .01) of the basal ganglia network. Conclusion Significantly altered patterns of global and local brain network topography may underlie the abnormal brain development in preschool children with ASD compared with those who have TD. The identification of altered structural connectivity in basal ganglia and paralimbic-limbic networks may point toward potential imaging biomarkers for preschool-age patients with ASD. © RSNA, 2018.

Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.

Autism spectrum disorder (ASD) is a genetically heterogeneous neurodevelopmental disorder characterized by impairments in social interaction and communication, and by restricted and repetitive behaviors. The genetic architecture of ASD has been elucidated, including chromosomal rearrangements, de novo or inherited rare variants, and copy number variants. However, the genetic mechanism of Chinese families with ASD children is explored rarely. To identify genetic pathogenesis, we performed massively parallel sequencing on 13 Chinese ASD trio families, and found two de novo variations. The novel de novo splice alteration c.664 + 2T > G in the DEAF1 gene and the novel de novo missense mutation c.95 C > T in the AADAT gene associated with ASD may be important clues for exploring the etiology of this disorder.

[A Preliminary Study on Effect of Transcutaneous Electrical Acupoint Stimulation for Children with Autism].

OBJECTIVE: To investigate the clinical efficacy of transcutaneous electrical acupoint stimulation (TEAS) in treating children with autism spectrum disorders. METHODS: Forty-one autistic children receiving rehabilitation training were randomized into TEAS (n=21) and control (n=20) groups. The control group only received rehabilitation training. The TEAS group received both rehabilitation training and TEAS treatment[2 Hz/15 Hz alternating frequencies through two pairs of skin electrodes placed at Hegu (LI 4)-Neiguan (PC 6) on unilateral side, and Zusanli (ST 36)-Sanyinjiao (SP 6) on the contralateral side]. The treatment was given 30 min per day for 12 weeks. The outcome assessment was quantified with a series of rating scales including Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS) and Parent Symptom Questionnaire (PSQ). RESULTS: (1) The TEAS group showed more significant improvement than the control group in ABC (P<0.01). 38.1% effective rate (8/21) was observed in the TEAS group compared to 5.0% (1/20) in the control group (P<0.05). The CARS scores of both groups were reduced (P<0.0001) after treatment. The TEAS group showed significantly lower score compared to the control group (P<0.0001). (2)There was a distinctly reduced PSQ score in both TEAS and control groups (P<0.001) after treatment.(3)TEAS intervention showed better effect in children under 6 years old with moderate or severe autistic symptoms. CONCLUSIONS: TEAS intervention can significantly improve the autistic symptoms.

Plasma Oxytocin and Arginine-Vasopressin Levels in Children with Autism Spectrum Disorder in China: Associations with Symptoms.

Autism spectrum disorder (ASD) is defined by impairments of social interaction and the presence of obsessive behaviors. The "twin" nonapeptides oxytocin (OXT) and arginine-vasopressin (AVP) are known to play regulatory roles in social behaviors. However, the plasma levels and behavioral relevance of OXT and AVP in children with ASD have seldom been investigated. It is also unknown whether their mothers have abnormal plasma peptide levels. Here, using well-established methods of neuropeptide measurement and a relatively large sample size, we determined the plasma levels of the two neuropeptides in 85 normal children, 84 children with ASD, and 31 mothers from each group of children. As expected, children with ASD had lower plasma OXT levels than gender-matched controls (P = 0.028). No such difference was found for plasma AVP concentrations. Correlation analysis showed that ASD children with higher plasma OXT concentrations tended to have less impairment of verbal communication (Rho = -0.22, P = 0.076), while those with higher plasma AVP levels tended to have lower levels of repetitive use of objects (Rho = -0.231, P = 0.079). Unlike the findings in children, maternal plasma OXT levels showed no group difference. However, plasma AVP levels in the mothers of ASD children tended to be lower than in the mothers of normal children (P = 0.072). In conclusion, our results suggest that the OXT system is dysregulated in children with ASD, and that OXT and AVP levels in plasma seem to be associated with specific autistic symptoms. The plasma levels of OXT or AVP in mothers and their ASD children did not seem to change in the same direction.

Mothers of autistic children: lower plasma levels of oxytocin and Arg-vasopressin and a higher level of testosterone.

BACKGROUND: Autism is a pervasive neurodevelopmental disorder,thought to be caused by a combination of genetic heritability and environmental risk factors. Some autistic-like traits have been reported in mothers of autistic children. We hypothesized that dysregulation of oxytocin (OXT), Arg-vasopressin (AVP) and sex hormones, found in autistic children, may also exist in their mothers. METHODS: We determined plasma levels of OXT (40 in autism vs. 26 in control group), AVP (40 vs. 17) and sex hormones (61 vs. 47) in mothers of autistic and normal children by enzyme immunoassay and radioimmunoassay, respectively and investigated their relationships with the children's autistic behavior scores (Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC)). RESULTS: Significantly lower plasma concentrations of OXT (p<0.001) and AVP (p<0.001), as well as a higher level of plasma testosterone (p<0.05), were found in mothers of autistic children vs. those of control. The children's autistic behavior scores were negatively associated with maternal plasma levels of OXT and AVP. CONCLUSIONS: These results suggest that dysregulation of OXT, AVP and/or testosterone systems exist in mothers of autistic children, which may impact children's susceptibility to autism.

[Comparison of pathologic and clinical characteristics of young and old patients with advanced rectal cancer after neoadjuvant radiotherapy].

OBJECTIVES: To address the difference of pathologic and clinical characteristics of the young and the middle-aged and elderly patients with advanced rectal cancer after neoadjuvant radiotherapy. METHODS: A total of 252 patients undergoing radical surgery from January 2000 to January 2005 were included in this study. The patients were divided into two groups according to the age at diagnosis:young-patient group (< 40 years) and old-patient group (≥ 40 years). The pathologic and clinical materials were collected and the oncologic outcome was compared between the two arms. RESULTS: A total of 252 patients were included in this study, included 54 patients in young-patient group and 198 patients in old-patient group, respectively. There was no significant difference in gender, clinical stage and pretreatment serum carcinoembryonic antigen (CEA) between the two groups. However, the proportion of mucinous and signet-ring cell cancer was significantly higher in young-patient group (20.4% vs. 4.0%, P < 0.05), and furthermore, the proportion of pathologic stage later than IIIA was also significantly higher in the young-patient group (61.1% vs. 42.9%, P < 0.05). There was no significant difference in local recurrence rate between the patients who received neoadjuvant radiotherapy and those who did not in the young-patient group, whereas the difference was observed significant in the old-patient group (3.3% vs. 11.2%, P < 0.05). There was no significant difference in both the disease free survival and overall survival between the two arms (5y-DFS: 63.3% vs. 68.5%, P > 0.05; 5y-OS: 73.5% vs. 72.9%, P > 0.05). CONCLUSIONS: Rectal cancer in young patients has poorer histologic differentiation and more advanced pathologic stage, but the long-term survival is similar to that in middle-aged and elderly patients. The local control effect of neoadjuvant radiotherapy on rectal cancer in young patients still need to be further investigated.

[Association study of sleep apnea syndrome and polymorphisms in the serotonin transporter gene].

OBJECTIVE: To identify polymorphisms of the serotonin transporter(5-HTT) gene and to find out whether there was relationship between any such polymorphisms and sleep apnea syndrome (SAS). METHODS: For two polymorphisms of 5-HTT target DNA gene was amplified using polymerase chain reaction (PCR) and 6% non-denaturing polyacrylamide gels electrophoresis. The frequencies of the different forms of the genotypes and alleles of 5-HTT gene were analyzed in 104 patients with SAS and 150 healthy controls. RESULTS: The frequencies of the S or L alleles and the S/S, S/L or L/L genotypes in promoter region of 5-HTT gene in SAS group were not significantly different to those in healthy controls (P > 0.05). However, the frequencies of 10/10, 12/10 genotypes of 5-HTT-VNTR in SAS patients were significantly higher than those in healthy control subjects (P < 0.05). Moreover, the frequency of the allele 10 of 5-HTT-VNTR in SAS patients was significantly higher than that in healthy controls (P<0.01). CONCLUSION: The allele 10 of 5-HTT-VNTR might be a susceptible factor in the pathogenesis of SAS.