Serum levels of SOD and risk of autism spectrum disorder: A case-control study

BackgroundAutism is a severe developmental disorder with poorly understood etiology. This study examined the clinical significance of serum superoxide dismutase (SOD) level, a marker of oxidative stress, in children with autism spectrum disorder (ASD) and typically-developing children between the ages of 2 and 6 years.MethodsNinety-six children diagnosed with ASD and 96 sex and age matched typically-developing children were assessed for serum levels of SOD at admission. S0D were assayed by colorimetry, and severity of ASD was evaluated with the Childhood Autism Rating Scale (CARS) Score. The influence of serum SOD levels on ASD was performed by conditional logistic regression analysis, which allows adjustment for confounding factors.ResultsThe median serum SOD levels were significantly (P < 0.001) lower in children with ASD as compared to typically-developing children [146 (IQR: 133–165) U/ml and 180 (168–199) U/ml, respectively]. Levels of SOD increased with decreasing severity of ASD as defined by the CARS score (r = −0.432, P < 0.0001). After adjusting for all other possible covariates, SOD remained can be seen as an independent indictor of ASD with an adjusted odds ratio (OR) of 0.955 (95% confidence interval [CI], 0.942–0.969; P < 0.001). Based on the receiver operating characteristic (ROC) curve, the optimal cutoff value of serum level of SOD as an indicator for auxiliary diagnosis of ASD was projected to be 160U/ml, which yielded a sensitivity of 84.7% and a specificity of 71.4%, with the area under the curve at 0.811 (95%CI, 0.747–0.874).ConclusionsOur data suggests that the decreased serum SOD levels could be implicated in the pathophysiology and progression of autism in Chinese children and can be used as an independent risk indicator of ASD.     

Gender dysphoria and autism spectrum disorder: A narrative review

Abstract

The current literature shows growing evidence of a link between gender dysphoria (GD) and autism spectrum disorder (ASD). This study reviews the available clinical and empirical data. A systematic search of the literature was conducted using the following databases: PubMed, Web of Science, PsycINFO and Scopus; utilizing different combinations of the following search terms: autism, autism spectrum disorder (ASD), Asperger’s disorder (AD), co-morbidity, gender dysphoria (GD), gender identity disorder (GID), transgenderism and transsexualism. In total, 25 articles and reports were selected and discussed. Information was grouped by found co-occurrence rates, underlying hypotheses and implications for diagnosis and treatment. GD and ASD were found to co-occur frequently – sometimes characterized by atypical presentation of GD, which makes a correct diagnosis and determination of treatment options for GD difficult. Despite these challenges there are several case reports describing gender affirming treatment of co-occurring GD in adolescents and adults with ASD. Various underlying hypotheses for the link between GD and ASD were suggested, but almost all of them lack evidence.     

Empirical research evaluating non-traditional approaches to managing sleep problems in children with autism

Objective: This paper examines the efficacy of non-behavioural and non-pharmacological approaches to the treatment of sleep disturbance in individuals with autism spectrum disorder. Methods: A systematic search of electronic databases and reference lists identified eight studies that met inclusion criteria. Studies were evaluated according to (a) treatment used, (b) participants, (c) experimental design, (d) baseline measures, (e) dependent variables, (f) follow-up measures, (g) reliability and treatment integrity, (h) results and certainty of evidence and (i) implications for treatment. Results: Positive outcomes were reported for the use of massage therapy and vitamin supplements. Aromatherapy was reported to have no effect on sleep. No studies were found that examined other non-traditional treatment approaches, nor did any of the studies provide conclusive evidence. Conclusions: The limited corpus of evidence and the methodological limitations suggests that the efficacy of non-traditional approaches to treatment of sleep problems in individuals with autism is yet to be demonstrated.     

Gaze patterns during scene processing in typical adults and adults with autism spectrum disorders

BackgroundLittle is known about how adults with autism spectrum disorder (ASD) process dynamic social scenes.MethodWe studied gaze behavior in 16 adults with ASD without intellectual impairment and 16 sex- and age-matched controls during passive scene processing.ResultsAdding more characters to a scene resulted in a drop in time spent looking at faces, and an increase in time spent looking at bodies (static trials) or off-person (dynamic trials) [Scene Type × AOI × Mode: F(2, 60) = 3.54, p = .04, η²_p = .11]. Unlike controls, adults with ASD showed only a small drop in the number of fixations made [Mode × Group: F(1, 30) = 11.30, p = .002, η²_p = .27] and no increase in the duration of face fixations [Mode × AOI × Group: F(2, 60) = 3.50, p = .04, η²_p = .11] when dynamic cues were added. Thus, particularly during dynamic trials, adults with ASD spent less time looking at faces and slightly more time looking off-person than did controls [Mode × AOI × Group: F(2, 60) = 3.10 p = .05, η²_p = .09]. Exhibiting more autistic traits and being less empathic were both associated with spending less time fixating on faces [.34 < |r| < .55, p < .05].ConclusionsThese results suggest that adults with ASD may be less sensitive to, or have more difficulty processing, dynamic cues—particularly those conveyed in faces. The findings demonstrate the importance of using dynamic displays in studies involving this clinical population.     

Use of video modelling to teach complex and meaningful job skills to an adult with autism spectrum disorder

Objective: To examine the effectiveness of a video modelling (VM) intervention to teach job-related telephone skills to an adult with Autism Spectrum Disorder (ASD). Methods: A multiple baseline design across four telephone-relevant behaviours was used to assess the effects of the intervention on the participant’s ability to respond to telephone calls. Results: Use of the VM intervention led to immediate improvements in listening and responding to both orders and complaints; more gradual improvements were also observed in the participant’s professional speech. All skill increases were maintained at follow-up. Conclusion: VM may be an effective method of teaching complex vocational skills to adults with ASD, although a stronger focus on social skills may be warranted in the future.     

孤独谱系障碍诊治新进展

孤独谱系障碍(Autism Spectrum Disorders , ASD)是一种严重的神经发育障碍性疾病,起病于婴幼儿时期 ,主要表现为语言发育障碍、社交技能缺陷、重复刻板的动作以及狭隘的兴趣等.ASD的病因复杂 ,发病机制不明 ,临床表现多样[1] ,且致残性极高.2015年6月4日国家多部委联合发布的《全国精神卫生工作规划(2015—2020年)》将儿童自闭症防治列为重点工作.当前面临的首要挑战 ,是早期检测识别、有效干预治疗[2] .美国精神障碍诊断与统计手册(The Diagnostic and Statistical Manual of Mental Disorders ,DSM )关于自闭症的诊断标准经过了半个多世纪的演化,尤其是近年来在大量相关理论和临床研究的进展下日臻完善[3].对 ASD患者要采用综合性的治疗方法 ,最重要的是教育训练和心理行为治疗[4] ,目的是矫正异常行为 ,消除睡眠障碍 ,控制冲动、自伤等症状.随着现代神经免疫、分子生物学和神经电生理等学科的发展 ,为ASD的治疗研发带来了更多的机遇和挑战.现就近年国内外关于ASD的研究 ,从诊断和生物医学干预治疗等方面进行综述.     

Low-level lead exposure and autistic behaviors in school-age children

IntroductionThe association between lead exposure and autism spectrum disorder is inconclusive. We hypothesized an association between higher blood lead concentrations and more autistic behaviors, including impaired social interactions and communication, stereotypical behaviors, and restricted interests, among school-age children.MethodsData from 2473 Korean children aged 7–8 years who had no prior history of developmental disorders were analyzed. Two follow-up surveys were conducted biennially until the children reached 11–12 years of age. Blood lead concentrations were measured at every survey, and autistic behaviors were evaluated at 11–12 years of age using the Autism Spectrum Screening Questionnaire (ASSQ) and Social Responsiveness Scale (SRS). The associations of blood lead concentration with ASSQ and SRS scores were analyzed using negative binomial, logistic, and linear regression models.ResultsBlood lead concentrations at 7–8 years of age (geometric mean: 1.64 μg/dL), but not at 9–10 and 11–12 years of age, were associated with more autistic behaviors at 11–12 years of age, according to the ASSQ (β = 0.151; 95% confidence interval [CI]: 0.061, 0.242) and SRS (β = 2.489; 95% CI: 1.378, 3.600). SRS subscale analysis also revealed associations between blood lead concentrations and social awareness, cognition, communication, motivation, and mannerisms.ConclusionEven low blood lead concentrations at 7–8 years of age are associated with more autistic behaviors at 11–12 years of age, underscoring the need for continued efforts to reduce lead exposure.     

扩散张量成像在孤独症谱系障碍中的研究进展

孤独症谱系障碍（ASD）是一类以社交、情感互动障碍,以及兴趣狭隘、行为刻板为基本特征的神经发育障碍性疾病。扩散张量成像（DTI）技术能够定量评价脑白质纤维束结构,可用于评价ASD病人全脑或特定白质纤维束结构的异常,也可用于分析ASD病人脑白质纤维束异常与临床症状、年龄及性别的相关性等。就DTI成像原理及其在ASD中的应用进展进行综述。     

Genetic predictors of celiac disease,lactose intolerance,and vitamin D function and presence of peptide morphins in urine of children with neurodevelopmental disorders

Gastrointestinal disturbances, nutritional deficiencies, and food intolerances are frequently observed in children with neurodevelopmental disorders (NDD). To reveal possible association of celiac disease risk variants (HLA-DQ), lactose intolerance associated variant (LCT-13910C>T) as well as variant associated with vitamin D function (VDR FokI) with NDD, polymerase chain reaction-based methodology was used. Additionally, intestinal peptide permeability was estimated in NDD patients and healthy children by measuring the level of peptides in urine using high-performance liquid chromatography. Levels of opioid peptides, casomorphin 8, and gluten exorphin C were significantly elevated in urine samples of NDD patients (P?=?0.004 and P?=?0.005, respectively), but no association of genetic risk variants for celiac disease and lactose intolerance with NDD was found. Our results indicate that increased intestinal peptide permeability observed in analyzed NDD patients is not associated with genetic predictors of celiac disease or lactose intolerance. We have also found that FF genotype of VDR FokI and lower serum levels of vitamin D (25-OH) showed association with childhood autism (CHA), a subgroup of NDD. We hypothesize that vitamin D might be important for the development of CHA.     

Kyste arachnoïdien temporal gauche et troubles spécifiques des apprentissages associés à un trouble envahissant du développement non spécifié (TED-NoS) : apports d’une approche intégrative neuro-psychomotrice neuropsychologique,psychopathologique et neurochirurgicale à propos d’une observation chez un enfant (le cas François)

Left temporal arachnoid cyst and specific learning disorders associated with pervasive developmental disorders – not otherwise specified (PDD-NOS): contributions of an integrative neuro-psychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François). With DSM-IV and DSM-IV-TR, the terminology of pervasive developmental disorders (PDD) covers two main categories of infantile disorders: disorders of “strictly” autistic nature and pervasive developmental disorders – not otherwise specified (PDD-NOS). Under the terminology of multiple complex developmental disorder (MCDD), it is proposed to classify children presenting symptoms approaching the psychotic disharmonies and usually diagnosed as PDD-NOS. Such a category of developmental disorders is now included without nosographic distinction in the autistic spectrum in the Diagnostic and Statistical Manual of mental disorders (DSM-V).Case reportWe are reporting a case report of a 6-year-old boy which shows a PDD-NoS/MCDD complex symptomatology type. This child presents multiple disorders: minor neurological signs (soft signs), neuro-psychomotor disorders, developmental coordination disorder (DCD), communication, thought, and regulation of emotions disorders, attention deficit disorders (ADD); in the presence of a high verbal intellectual potential, which makes it difficult to establish a clear diagnosis. A cerebral magnetic resonance imaging (MRI) was carried out due to the presence of minor neurological signs (soft signs) and of neurodevelopmental multiple disorders. The MRI revealed a voluminous arachnoid temporo-polar left cyst with a marked mass effect on the left temporal lobe.DiscussionA neurosurgical intervention allowed to observe the gradual disappearance of the specific symptomatology (in particular soft signs, neuro-psychomotor functions and autistic symptoms) secondary to the interference of the cyst's pressure with intracranial areas involving neurological and psychopathological abnormalities, underlying at the same time the reversibility of the disorders after decompression as demonstrated in some studies. There are always, with a quantitative and qualitative decrease, an emotional dysregulation, a DCD, an ADD as well as impairments in the executive functions.ConclusionThis clinical case underlines the necessity of an evaluation in a transdisciplinary way and to follow the developmental evolution of the child in order to focus adapted therapeutics. Furthermore, with neurodevelopmental disorders not specified, it is important to examine the presence of soft signs with standardized neuro-psychomotor assessment, and then, to propose an MRI investigation. To our knowledge, this is the first report in the literature with a school age child of an unusual association between a temporal arachnoid cyst associated with PDD-NOS/MCDD.