Autistic Behavior Research Articles

Screen time and autistic-like behaviors among preschool children in China

ABSTRACT Screen time is becoming increasingly common in daily life. Early and excessive screen use has raised growing concerns for children’s neuropsychological development. The purpose of this study was to evaluate the association between exposure to screen time in early life and the presence of autistic-like behaviors among preschool children. 29,461 child-caregiver dyads at kindergartens in Longhua New District of Shenzhen, China, were enrolled in this cross-sectional study. Information concerning socio-demographic characteristics, frequency and duration of children’s electronic screen exposure for each year since birth, and autistic-like behaviors (measured by the Autism Behavior Checklist) were collected using a self-administered structured questionnaire completed by the primary caregivers. A series of logistic regression models assessed the association between screen time and autistic-like behaviors. Results indicated that younger initial age, longer daily screen time and longer cumulative years of screen exposure since birth were associated with the presence of autistic-like behaviors at preschool age. The risk was enhanced with the increase of both daily screen time and cumulative years of screen exposure during preschool period. Moreover, the cross-over analysis indicated that the first three years following birth might be a sensitive period for children when screen exposure increases the risk of experiencing autistic-like behaviors. In conclusion, our study implied that screen exposure in early life might increase the occurrence of autistic-like behaviors among preschoolers. These findings support the need for early interventions into preschoolers’ screen use, however longitudinal studies are necessary to further confirm the causal relationship between early screen time and the incidence of later autistic-like behaviors among preschool children.

An Investigation of the Dynamic Thiol/Disulfide Homeostasis, As a Novel Oxidative Stress Plasma Biomarker, in Children With Autism Spectrum Disorders.

We aimed to investigate the role of impaired oxidant-antioxidant homeostasis on the etiopathogenesis of autism with a novel oxidative stress (OS) marker, dynamic thiol/disulfide homeostasis (DTDH), and relationship between the symptom severity and markers. A total of 60 children with ASD aged 3-10 years and 54 unaffected children were investigated for the plasma DTDH parameters. A sociodemographic-data form, K-SADS-PL, Childhood Autism Rating Scale, Abnormal Behavior Checklist, Autism Behavior Checklist, and a developmentally appropriate IQ test were administered to all participants. Distortion of DTDH to the OS-side in the autism group was determined with lower plasma levels of native and total thiol, in contrast to a higher disulfide and thiol oxidation-reduction ratio. However, biomarkers had no correlation with the symptom severity of autism. Cutoff values for each parameter on the ROC curve might be useful to predict ASD and each DTDH biomarker was detected as an independent predictor of ASD. The present study demonstrated a disturbed redox status and absence of an expected compensatory increase in antioxidant response in a pediatric sample of ASD by measuring dynamic oxidation/reduction shifts with a novel, practical and reproducible analytical technique, and contributes to data regarding oxidative hypothesis on autism and raises the question of the place of antioxidants in autism treatment. Our results may suggest predictive usefulness of the plasma DTDH biomarkers in ASD, despite the study being conducted with a modestly small sample size that makes further research with a larger replication sample necessary to substantiate the findings. LAY SUMMARY: Dynamic thiol/disulfide homeostasis is a novel plasma marker used to determine the oxidative stress which is a natural result of disequilibrium between the oxidants and antioxidants in the human body. There is increasing interest regarding a central biological linking role of oxidative stress among the other etiological factors of autism. Our findings on the disturbed plasma dynamic thiol/disulfide homeostasis in children with autism and the absence of an expected antioxidant response against increased oxidative stress supports the data concerning the role of oxidative stress on the etiology of autism and the need of further research on the place of antioxidants in autism treatment.

Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene.

Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neuroligin in social circuitry and the impact of genetic variation to this gene is not fully understood. Indeed, in animal studies designed to model autism, there remains controversy regarding the role of neuroligin dysfunction in the expression of disrupted social behaviours. The model organism, Caenorhabditis elegans, offers an informative experimental platform to investigate the impact of genetic variants on social behaviour. In a number of paradigms, it has been shown that inter-organismal communication by chemical cues regulates C. elegans social behaviour. We utilize this social behaviour to investigate the effect of autism-associated genetic variants within the social domain of the research domain criteria. We have identified neuroligin as an important regulator of social behaviour and segregate the importance of this gene to the recognition and/or processing of social cues. We also use CRISPR/Cas9 to edit an R-C mutation that mimics a highly penetrant human mutation associated with autism. C. elegans carrying this mutation phenocopy the behavioural dysfunction of a C. elegans neuroligin null mutant, thus confirming its significance in the regulation of animal social biology. This highlights that quantitative behaviour and precision genetic intervention can be used to manipulate discrete social circuits of the worm to provide further insight into complex social behaviour.

A Developmental Profile of Children With Autism Spectrum Disorder in China Using the Griffiths Mental Development Scales.

The purpose of this study was to profile the mental development of children aged 18 to 96 months with autism spectrum disorder (ASD) using the Chinese version of the Griffiths Mental Development Scales (GMDS), and to explore the relationships between developmental levels and ASD severity, the sex of the child and the age of ASD diagnosis. Children with ASD (n = 398; 337 boys, 61 girls) were recruited and ASD severity evaluated using the Autism Behavior Checklist and the Childhood Autism Rating Scale, while the GMDS was used to evaluate the children’s mental development. Study participants were divided into groups according to GMDS general and subscale quotients, ASD severity, sex, and age. The majority of groups divided according to the GMDS quotients exhibited an unbalanced distribution in respect of the six domains of the GMDS and there were significant differences within the six subscale quotients. Autism severity, sex and age had significant effects on the overall level of development of autistic children. The quotients recorded for the children with more severe ASD were significantly lower than those for the children with less severe ASD. A markedly higher proportion of developmental delay was recorded for girls than boys in relation to the performance subscale. The locomotor quotient decreased in line with age at diagnosis, while autism severity and age had significant effects on the general and subscale quotients and sex had a significant effect on performance quotient. Children with ASD exhibit an uneven cognitive development profile, and their overall developmental levels are affected by autism severity, sex and age. Specific cognitive domains differ according to sex in children with ASD. Locomotor skills tend to decrease according to the age at diagnosis for autistic children aged 18 to 84 months. Autism severity and age are also associated with the level of functioning in different cognitive areas. These findings contribute to define the cognitive developmental profiles of children with ASD.

Expanding the Catatonia Tent: Recognizing Electroconvulsive Therapy Responsive Syndromes.

Catatonia is a motor and mood disorder of behavior increasingly recognized in systemic medically ill. Neuroleptic malignant syndrome, delirious mania, self injurious behaviors in autism, and limbic encephalitis are conditions in which ECT-responsive catatonia is increasingly recognized and effectively treated.

Safety and efficacy of complementary and alternative medicine in the treatment of autism spectrum disorder: A protocol for systematic review and meta-analysis.

Introduction:The purpose of this study is to evaluate the efficacy and safety of complementary and alternative medicine in the treatment of autism spectrum disorder.Methods and analysis:We will electronically search Pubmed, Medline, Embase, Web of Science, the Cochrane Central Register of Controlled Trial, China National Knowledge Infrastructure, China Biomedical Literature Database, China Science Journal Database, and Wan-fang Database from their inception. Also, we will manually retrieve other resources, including reference lists of identified publications, conference articles, and gray literature. The clinical randomized controlled trials or quasi-randomized controlled trials related to complementary and alternative medicine treating autism spectrum disorder will be included in the study. The language is limited to Chinese and English. Research selection, data extraction, and research quality assessment will be independently completed by 2 researchers. Data were synthesized by using a fixed-effect model or random-effect model depend on the heterogeneity test. The Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) scores will be the primary outcomes. The scores of the Autism Treatment Evaluation Checklist and the Ritvo-Freeman Real Life Rating Scale will also be assessed as secondary outcomes. RevMan V.5.3 statistical software will be used for meta-analysis, and the level of evidence will be assessed by Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Continuous data will be expressed in the form of weighted mean difference or standardized mean difference with 95% confidence intervals (CIs), whereas dichotomous data will be expressed in the form of relative risk with 95% CIs.Ethics and dissemination:The protocol of this systematic review does not require ethical approval because it does not involve humans. We will publish this article in peer-reviewed journals and presented at relevant conferences.Systematic review registration:OSF Registries, DOI: 10.17605/OSF.IO/ HA97R (https://osf.io/ha97r)

Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship

Recent work by Licznerski etal. suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane proton leak, leading to increased metabolism and changes in protein synthesis that trigger impaired synaptic maturation and autistic behaviors.

Nutritional status of children with autism spectrum disorders in Zhengzhou

Objective To investigate the nutritional status of children with autism spectrum disorders, and to provide a reference for improving their nutritional status. Methods 120 children with autism spectrum disorder who were treated in the rehabilitation center of Affiliated Children’s Hospital of Zhengzhou University from September 2016 to September 2018 were selected as case group, and 120 normal children in the physical examination center of the same hospital were selected as the healthy group. The children’s status was assessed by using the Clancy Autism Behavior Scale (CABS), and the serum nutrients levels were compared between these two groups. Results Compared with the healthy group, the Vitamin A[(83.44±9.20, 59.45±4.42) mg/L], Vitamin B6[(64.15±11.22, 32.02±5.75) m/L], Vitamin C[(60.62±10.26, 47.63±13.12) m/L], protein[(120.45±30.51, 104.46±9.38) g/L], iron[(134.25±18.16, 112.17±6.02) mg/L], calcium[(72.96±10.62, 66.57±4.11) m/L], zinc[(70.85±5.76, 62.52± 10.66) mg/L] and folic acid [(31.38±6.77, 20.29±6.26) mg/L], eicosapentaenoic acid (EPA) [(0.72±0.22, 0.55±0.14) μmol/L], decosahexaenoic acid (DHA) [(1.54±0.35, 1.22±0.26) μmol/L] and arachidonic acid (AA) [(5.51±0.76, 5.03±0.16) μmol/L] were lower ( t = 25.75, 27.92, 8.54, 5.49, 12.64, 6.30, 7.53, 13.18, 7.14, 8.04, 6.77, P <0.05), the low body weight(49.17%, 63.33%) and wasting (38.33%, 46.67%) in autism spectrum disorder group were higher significantly (χ 2 =4.89, 6.71, P <0.05). Conclusion The nutritional status of children with autism spectrum disorder is different from that of normal children. The lack of serum nutrients will lead to a high incidence of malnutrition. 【摘要】 目的 研究孤独症谱系障碍儿童营养状况，为改善孤独症谱系障碍儿童营养提供参考。 方法 选取2016年9 月一2018年9月在郑州大学附属儿童医院收治的孤独症谱系障碍儿童120例（孤独症谱系障碍组），选择同期健康儿童 120例（健康组）。采用克氏孤独症行为量表（Clancy Autism Behavior Scale，CABS)评估儿童状况，调查血清营养素及营养 状况。 结果 与健康组比，孤独症谱系障碍组儿童维生素A[(83.44±9.20,59.45±4.42) mg/L]、维生素B6 [(64.15±11.22, 32.02±5.75) m/L]、维生素 C [(60.62 ± 10.26, 47.63 ± 13.12 ) mg/L]、蛋白质[(120.45 ± 30.51，104.46 ± 9. 38 ) g/L ]、铁 [(134.25±18.16，112.17±6.02)m/L]、钙[(72.96± 10.62,66.57±4.11 ) m/L]、锌[(70.85±5.76,62.52± 10.66) mg/L]、叶酸 [(31.38±6.77,20.29±6.26)mg/L]、二十二碳五烯酸[(0.72±0.22,0.55±0.14) μmol/L]、二十二碳六烯酸[(1.54±0.35，1.22± 0.26) μmol/L]、花生四烯酸[(5.51±0.76,5.03±0.16) μmol/L]均明显降低（ t 值分别为 25.75,27.92,8.54,5.49，12.64,6.30, 7.53，13.18,7.14,8.04,6.77， P 值均<0.05)，低体质量（49.17%，63.33%)、消瘦（38.33%，46.67%)检出率明显增高（χ 2 值分 别为4.89,6.71，P值均<0.05)。 结论 孤独症谱系障碍儿童营养状况与正常儿童存在差别，血清营养素缺乏。

Gray matter covariations and core symptoms of autism: the EU-AIMS Longitudinal European Autism Project

BackgroundVoxel-based morphometry (VBM) studies in autism spectrum disorder (autism) have yielded diverging results. This might partly be attributed to structural alterations being associating with the combined influence of several regions rather than with a single region. Further, these structural covariation differences may relate to continuous measures of autism rather than with categorical case–control contrasts. The current study aimed to identify structural covariation alterations in autism, and assessed canonical correlations between brain covariation patterns and core autism symptoms.MethodsWe studied 347 individuals with autism and 252 typically developing individuals, aged between 6 and 30 years, who have been deeply phenotyped in the Longitudinal European Autism Project. All participants’ VBM maps were decomposed into spatially independent components using independent component analysis. A generalized linear model (GLM) was used to examine case–control differences. Next, canonical correlation analysis (CCA) was performed to separately explore the integrated effects between all the brain sources of gray matter variation and two sets of core autism symptoms.ResultsGLM analyses showed significant case–control differences for two independent components. The first component was primarily associated with decreased density of bilateral insula, inferior frontal gyrus, orbitofrontal cortex, and increased density of caudate nucleus in the autism group relative to typically developing individuals. The second component was related to decreased densities of the bilateral amygdala, hippocampus, and parahippocampal gyrus in the autism group relative to typically developing individuals. The CCA results showed significant correlations between components that involved variation of thalamus, putamen, precentral gyrus, frontal, parietal, and occipital lobes, and the cerebellum, and repetitive, rigid and stereotyped behaviors and abnormal sensory behaviors in autism individuals.LimitationsOnly 55.9% of the participants with autism had complete questionnaire data on continuous parent-reported symptom measures.ConclusionsCovaried areas associated with autism diagnosis and/or symptoms are scattered across the whole brain and include the limbic system, basal ganglia, thalamus, cerebellum, precentral gyrus, and parts of the frontal, parietal, and occipital lobes. Some of these areas potentially subserve social-communicative behavior, whereas others may underpin sensory processing and integration, and motor behavior.

Smartphone-Based Self-Monitoring, Treatment, and Automatically Generated Data in Children, Adolescents, and Young Adults With Psychiatric Disorders: Systematic Review.

BackgroundPsychiatric disorders often have an onset at an early age, and early identification and intervention help improve prognosis. A fine-grained, unobtrusive, and effective way to monitor symptoms and level of function could help distinguish severe psychiatric health problems from normal behavior and potentially lead to a more efficient use of clinical resources in the current health care system. The use of smartphones to monitor and treat children, adolescents, and young adults with psychiatric disorders has been widely investigated. However, no systematic review concerning smartphone-based monitoring and treatment in this population has been published.ObjectiveThis systematic review aims at describing the following 4 features of the eligible studies: (1) monitoring features such as self-assessment and automatically generated data, (2) treatment delivered by the app, (3) adherence to self-monitoring, and (4) results of the individual studies.MethodsWe conducted a systematic literature search of the PubMed, Embase, and PsycInfo databases. We searched for studies that (1) included a smartphone app to collect self-monitoring data, a smartphone app to collect automatically generated smartphone-based data, or a smartphone-based system for treatment; (2) had participants who were diagnosed with psychiatric disorders or received treatment for a psychiatric disorder, which was verified by an external clinician; (3) had participants who were younger than 25 years; and (4) were published in a peer-reviewed journal. This systematic review was reported in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The risk of bias in each individual study was systematically assessed.ResultsA total of 2546 unique studies were identified through literature search; 15 of these fulfilled the criteria for inclusion. These studies covered 8 different diagnostic groups: psychosis, eating disorders, depression, autism, self-harm, anxiety, substance abuse, and suicidal behavior. Smartphone-based self-monitoring was used in all but 1 study, and 11 of them reported on the participants’ adherence to self-monitoring. Most studies were feasibility/pilot studies, and all studies on feasibility reported positive attitudes toward the use of smartphones for self-monitoring. In 2 studies, automatically generated data were collected. Three studies were randomized controlled trials investigating the effectiveness of smartphone-based monitoring and treatment, with 2 of these showing a positive treatment effect. In 2 randomized controlled trials, the researchers were blinded for randomization, but the participants were not blinded in any of the studies. All studies were determined to be at high risk of bias in several areas.ConclusionsSmartphones hold great potential as a modern, widely available technology platform to help diagnose, monitor, and treat psychiatric disorders in children and adolescents. However, a higher level of homogeneity and rigor among studies regarding their methodology and reporting of adherence would facilitate future reviews and meta-analyses.

Prenatal Phthalate Exposure and Social Responsiveness Scores in Early Childhood Using Quantile Regression: The HOME and EARLI Studies

Background/Aim: Prenatal exposure to phthalates, non-persistent chemicals used in some consumer products, may adversely affect neurodevelopment. However, linear regression estimates effects at the mean of a neurodevelopmental trait and the effect of phthalates may be underestimated if sub-populations at the ‘tails’ of distributions are more susceptible. To address this gap, we assessed the relation between prenatal phthalate exposure and children’s Autism Spectrum Disorder (ASD)-related behaviors using quantile regression. Methods: We used harmonized data from the Health Outcomes and Measures of the Environment (HOME) Study, a general population cohort (n= 276) and Early Autism Risk Longitudinal Investigation (EARLI) (n=145) Study, an enriched risk cohort of moms who had a child with ASD. We measured maternal concentrations of 9 phthalate metabolites in urine samples collected twice during pregnancy. Caregivers reported children’s behaviors associated with ASD on the Social Responsiveness Scale (SRS) at age 3-8 years; higher scores indicate more ASD-related behaviors. We estimated covariate-adjusted differences in continuous SRS T-scores with increasing log10-transformed phthalate metabolite concentrations using quantile regression. Results: In HOME, monobenzyl phthalate, monoethyl phthalate, and di-2-ethylhexyl phthalate (ΣDEHP) metabolite concentrations were modestly associated with increased SRS T-scores at the 50th or 75th percentile compared to the 25th. For example, each 10-fold increase in ΣDEHP concentrations was associated with higher SRS T-scores at the 50th (β:3; 95% CI:2, 7) and 75th (β:3; 95% CI:-1, 7) percentiles, but not the 25th (β:1; 95% CI: 0, 5). In EARLI, there were predominately inverse and less precise associations between phthalate metabolite concentrations and SRS T-scores across percentiles.Conclusion: In the HOME Study, concentrations of some phthalate were associated with more autistic behaviors among children with higher SRS T-scores; inconsistencies with the EARLI Study may be due to differences in cohort specific participant characteristics.

Chronic bryostatin-1 rescues autistic and cognitive phenotypes in the fragile X mice

Fragile X syndrome (FXS), an X-chromosome linked intellectual disability, is the leading monogenetic cause of autism spectrum disorder (ASD), a neurodevelopmental condition that currently has no specific drug treatment. Building upon the demonstrated therapeutic effects on spatial memory of bryostatin-1, a relatively specific activator of protein kinase C (PKC)ε, (also of PKCα) on impaired synaptic plasticity/maturation and spatial learning and memory in FXS mice, we investigated whether bryostatin-1 might affect the autistic phenotypes and other behaviors, including open field activity, activities of daily living (nesting and marble burying), at the effective therapeutic dose for spatial memory deficits. Further evaluation included other non-spatial learning and memory tasks. Interestingly, a short period of treatment (5 weeks) only produced very limited or no therapeutic effects on the autistic and cognitive phenotypes in the Fmr1 KO2 mice, while a longer treatment (13 weeks) with the same dose of bryostatin-1 effectively rescued the autistic and non-spatial learning deficit cognitive phenotypes. It is possible that longer-term treatment would result in further improvement in these fragile X phenotypes. This effect is clearly different from other treatment strategies tested to date, in that the drug shows little acute effect, but strong long-term effects. It also shows no evidence of tolerance, which has been a problem with other drug classes (mGluR5 antagonists, GABA-A and -B agonists). The results strongly suggest that, at appropriate dosing and therapeutic period, chronic bryostatin-1 may have great therapeutic value for both ASD and FXS.

Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism

Often included within ‘high-risk sibling’ studies, the Autism Observation Scale for Infants (AOSI) has only one independent replication study and no evaluation with community-ascertained cohorts. We administered the AOSI and established clinical measures with 103 infants (68% male) at ‘high autism likelihood’ on the Social Attention and Communication Surveillance - Revised (SACS-R) tool, at 9–14 months of age and again 6 months later. AOSI Total scores showed adequate internal consistency and strong inter-rater agreement (live- or video-coded) and were approximately normally distributed at each visit. Modest significant associations presented between Time 1 AOSI scores and concurrent developmental/adaptive skills measures. Concurrent associations were stronger at Time 2, particularly between AOSI Total and Autism Diagnostic Observation Schedule (ADOS) Social Affect scores. AOSI scores were only moderately associated across Time 1 and 2 assessments, as were Time 1 AOSI with Time 2 ADOS scores. These data from a clinically indicated cohort broadly replicate previous AOSI validity accounts from ‘high-risk sibling’ studies, particularly beyond the first year. Strong inter-rater agreement indicates viable AOSI inclusion within protocols necessitating blinded evaluation (e.g. intervention trials). Moderate within-participant stability suggests that, like ‘high-risk siblings,’ community-ascertained infants experience variable early trajectories. Lay Abstract We investigated whether a commonly used research assessment – the Autism Observation Scale for Infants (AOSI) – accurately measures autism behaviours among infants showing early signs of autism identified within the community. The AOSI is often included in studies tracking the development of infants at increased likelihood of autism, such as the infant siblings of diagnosed children. However, the suitability of this measure has not previously been tested with community-referred infants. We administered the AOSI with infants when aged 9 to 14 months and again 6 months later. Our researchers – independent of the AOSI development team and newly trained on this measure – were able to administer the brief interactive assessment and score it accurately. The infants’ AOSI scores were linked to their scores on other established and validated clinical assessments, particularly at the second visit when average age was 18 months. Stronger correspondence of AOSI and other scores at this second visit suggests early autism behaviours are better established and more consistent by 18 months of age, even though these infants showed clear enough signs of possible autism to prompt referral to our study around 12 months of age. However, the moderate association of AOSI scores over time suggests that, like infant siblings – who mostly do not develop autism – community-identified infants showing early signs may also have variable developmental pathways in early life.

Parent training for Autism Spectrum Disorder.

The main purpose of the present study was to investigate the effectiveness of behaviour therapy training to mothers of autistic children on verbal and non-verbal improvement of their children. A total of 33 mothers of autistic children were selected for training based on non-probability purposive sampling procedure. Autism Spectrum Disorder (ASD) Knowledge Scale was used to assess mothers' knowledge about autism and Vineland Adaptive Behaviour Scale was used for assessment of the communication skill in autistic children. This study revealed that behaviour therapy training significantly improved communication skills of children with autism by training mothers. The results of paired t-test revealed that trained mothers developed improved communication skills. These results showed improvement in communication skills of autistic children whose mothers were trained in behaviour therapy.

Reliability and Validity of the Simplified Chinese Version of the Aberrant Behavior Checklist in Chinese Autism Population.

Background: The Aberrant Behavior Checklist (ABC) is a widely used scale in autism clinical intervention research for the assessment of core symptoms and comorbid emotional and behavioral problems among people with autism. The aim of this study was to examine the psychometric properties of the Simplified Chinese version of the Aberrant Behavior Checklist (SC-ABC) using a sample of people with autism in a Chinese population.Methods: In total, we enrolled 799 patients aged 1.5–33 years old. We collected data using the SC-ABC (n = 799), Autism Behavior Checklist (n = 743), Attention Deficit Hyperactivity Disorder Rating Scale-IV (ADHD-RS-IV) (n = 433) and Achenbach Child Behavior Checklist (CBCL) (n = 319). Eighty-four patients were separately assessed with the SC-ABC by two caregivers simultaneously. Forty-four patients were assessed with the SC-ABC again by same caregiver 2 weeks after the first assessment. SC-ABC data from the whole sample were used for confirmatory factor analysis. We evaluated criterion validity using Spearman's correlation coefficient between scores of the SC-ABC and scores of the Autism Behavior Checklist, ADHD-RS-IV and CBCL separately in the whole sample and different age groups. We calculated the intragroup correlation coefficients and Spearman's correlation coefficient for interrater reliability in 84 samples and test-retest reliability in 44 samples. We conducted Cronbach's α for internal consistency.Results: For the SC-ABC, the intragroup correlation coefficients of five subscales and the total score in interrater and test-retest reliability ranged from 0.87 to 0.92 and from 0.93 to 0.97 (all P < 0.01). The Spearman's correlation coefficient of five subscales and the total score in interrater and test-retest reliability ranged from 0.78 to 0.85 and 0.86 to 0.94, respectively (all P < 0.01). Cronbach's α of five subscales and the total score ranged from 0.75 to 0.96 (all P < 0.01). The Spearman's correlation coefficient for criterion validity for the whole sample and different age groups ranged from 0.39 to 0.76 (all P < 0.01). The model fit for the original five factor model was acceptable, with fit indices of SMR = 0.062 and RMSEA = 0.052.Conclusions: The SC-ABC has satisfactory psychometric properties and can be used in the assessment of core symptoms and comorbid emotional and behavioral problems in patients with autism.

An Autoencoder-Based Deep Learning Classifier for Efficient Diagnosis of Autism

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a lack of social communication and social interaction. Autism is a mental disorder investigated by social and computational intelligence scientists utilizing advanced technologies such as machine learning models to enhance clinicians’ ability to provide robust diagnosis and prognosis of autism. However, with dynamic changes in autism behaviour patterns, these models’ quality and accuracy have become a great challenge for clinical practitioners. We applied a deep neural network learning on a large brain image dataset obtained from ABIDE (autism brain imaging data exchange) to provide an efficient diagnosis of ASD, especially for children. Our deep learning model combines unsupervised neural network learning, an autoencoder, and supervised deep learning using convolutional neural networks. Our proposed algorithm outperforms individual-based classifiers measured by various validations and assessment measures. Experimental results indicate that the autoencoder combined with the convolution neural networks provides the best performance by achieving 84.05% accuracy and Area under the Curve (AUC) value of 0.78.

Use of positive behaviour support plan for challenging behaviour in autism

The aim of a positive behaviour support (PBS) plan is to improve the quality of a person's life by supporting the person to lead a meaningful life and learn new skills without unnecessary restrictions. PBS uses person‐centred values as well as behavioural science and evidence to inform how to work with people who are at risk of displaying behaviour that challenges. Here, the authors describe how a PBS was effectively used to reduce anxiety and challenging behaviour in a person with autism.

&lt;p&gt;A de novo &lt;em&gt;CTNNB1&lt;/em&gt; Novel Splice Variant in an Adult Female with Severe Intellectual Disability&lt;/p&gt;

The catenin beta-1 (CTNNB1) gene, encoding a sub-unit of the cadherin/catenin protein complex that is involved in the Wnt signalling pathway important for proper interneuron development, is considered to be causative for the rare autosomal dominant mental retardation syndrome, formerly called MRD19 but later renamed neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Its main characteristics are moderate to severe intellectual disability (ID), disruptive autistic behaviours, microcephaly, absent or limited speech, facial dysmorphisms, peripheral hypertonia/spasticity, motor delay and visual defects. So far, 35 patients have been reported with a de novo loss-of-function variant in CTNNB1. In two other patients, a deletion comprising the full gene was found. Four out of the 37 patients were of adult age (range: 27–51 years), while the majority was infant or adolescent (range: 0–20 years). Here, a 32-year-old severely intellectually disabled female patient is described in whom exome sequencing disclosed a de novo heterozygous splice site variant in the CTNNB1 gene [Chr3(GRCh37): g.41267064G>T; NM_001904.3: 23. c.734+1G>T; r. spl?]. Somatic investigation disclosed significant microcephaly and minor facial dysmorphisms. Neurological examination demonstrated severe kyphoscoliosis, distal spastic tetraparesis, especially of the legs with increased tendon reflexes and bilateral Babinski sign, resulting in severely impaired walking capability with a broad-based gait. Apart from strabismus, no ophthalmological abnormalities were found. Here, the reported variant in the CTNNB1 gene was not published earlier nor is included in the international databases. This specific variant is considered to be causative for the severe ID, autism and the somato-neurological phenotype of the patient and corresponds with a diagnosis of NEDSDV.

Stereotypies and restricted and repetitive behaviours in autism (Estereotipias y conductas restrictivas y repetitivas en autismo)

ABSTRACT In 1999 Ángel Rivière highlights the need to increase research on restricted and repetitive behaviours (RRB) in autism. These RRBs comprise the eighth dimension of his Autism Spectrum Inventory. This dimension was organized in a single axis, Flexibility, and linked the processes of Anticipation and Sense of the Activity. He linked these three dimensions with the executive dysfunction described in the disorder. In 20 years of research, advances have focused on the characterization of these RRBs. Subtypes have been defined: Repetitive Sensory Motor Behaviours-RSM (typically stereotypies) and Insistence on Sameness-IS (repetitive rituals and interests). The underlying processes and connections with other especially relevant variables, such as sensory atypicality, intolerance to uncertainty and anxiety, are being studied. The findings allow us to reorganize the perspective of the connections proposed by Rivière between the RRBs and executive dysfunction. These two decades have resulted in a vision with a greater focus on the individual and personal well-being, which opens the field to the application of other study methodologies.

The effect of fecal microbiota transplantation on autistic-like behaviors in Fmr1 KO mice

The importance of alterations in bidirectional communication between gut and brain has become obvious in neuropsychiatric disorders. Gastrointestinal (GI) disturbances are very common in autism spectrum disorders (ASD), and the GI microbiota profiles in children with ASD are significantly different from those in the general population. Fragile X syndrome (FXS) is an inheritable developmental disability in humans, and patients with FXS exhibit autistic behaviors such as mental retardation and impaired social communication or interaction. We hypothesized that an increase in specific gut microbiota by fecal microbiota transplantation (FMT) would mitigate autistic-like behaviors. To test this hypothesis, we measured the effects of FMT from normal mice to Fmr1 KO mice on autistic-like behaviors using several behavioral tests. Because the amounts of A. muciniphila in Fmr1 KO mice was very low, we assessed A. muciniphila population, tested the expression of MUC2, and analyzed goblet cells in the gut after the FMT. We found that FMT ameliorated autistic-like behaviors, especially memory deficits and social withdrawal, and we observed that the levels of A. muciniphila were normalized to wild-type levels. In addition, FMT attenuated the increased levels of TNFα and Iba1 in the brains of Fmr1 KO mice. These results suggest that FMT could be a useful tool for the treatments of cognitive deficits and social withdrawal symptoms observed in FXS or ASD because it increases the population of A. muciniphila and decreases TNFα and Iba1 levels.