1. Ahmad SF, Nadeem A, Ansari MA, Bakheet SA, Al-Ayadhi LY, Attia SM. {{Downregulation in Helios transcription factor signaling is associated with immune dysfunction in blood leukocytes of autistic children}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2018; 85: 98-104.
Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder in which immunological imbalance has been suggested to be a major etiological component. Helios, a transcription factor, has been studied extensively in the context of human T cell regulation in health and disease, yet the role of Helios signaling has not been examined in children with ASD. In the present study, we investigated the production of Helios in CD4(+), CD8(+), and TIM-3(+), CXCR3(+) cells in typically developing (TD) controls and children with ASD and in peripheral blood mononuclear cells (PBMCs). We assayed the production of IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Foxp3(+)Helios(+) cells, and determined Helios mRNA and protein expression levels in PBMCs, in TD controls and children with ASD. Our results revealed that children with ASD had lower numbers of CD4(+)Helios(+) CD8(+)Helios(+), TIM-3(+)Helios(+), and CXCR3(+)Helios(+) cells as compared to TD controls. Our results also showed that children with ASD had decreased IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Helios(+)Foxp3(+) production compared to that in TD controls. Moreover, our results indicated that children with ASD had lower Helios mRNA and protein expression levels compared to those in TD controls. These results suggest that the Helios transcription factor may be critical to immune alterations in children with ASD. Therefore, our results suggest that targeting Helios signaling might offer a strategy for developing ASD therapies.
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2. Alster P, Koziorowski DM, Za Bek M, Dzierzecki S, Ma Dry J, Duszynska-Wa SK, Grygarowicz H, Zielonko J, Krolicki L, Friedman A. {{Making a Difference-Positive Effect of Unilateral VIM Gamma Knife Thalamotomy in the Therapy of Tremor in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)}}. {Frontiers in neurology}. 2018; 9: 512.
Fragile X Tremor Ataxia Syndrome (FXTAS) is a syndrome based on expansion of the repeats of CGG triplets. The symptoms include action tremor and cerebellar gait ataxia. Additionally symptomatology of FXTAS may be associated to parkinsonism, executive function deficits, dementia, neuropathy and dysautonomia. We present a case of a patient who after 20 year history of progressive tremor and ataxia, was diagnosed after genetic examination as mutation of FXTAS. For the treatment of tremor the patient underwent Gamma Knife (GK) thalamotomy. Reduced tremor on the right side and improvement in everyday activities were observed in the outcome of the treatment. GK thalamotomy, in the context of this patient, did not significantly affect the ataxia.
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3. Arun P, Chavan BS. {{Development of a screening instrument for autism spectrum disorder: Chandigarh Autism Screening Instrument}}. {The Indian journal of medical research}. 2018; 147(4): 369-75.
Background & objectives: There is a paucity of trained professionals for the diagnosis of autism spectrum disorder (ASD), and a large number of cases go undetected and are diagnosed only during adolescence. There is no screening instrument specifically developed for screening of Indian population for ASD. This study was undertaken to develop a screening instrument to screen ASD in north Indian Hindi speaking population by multipurpose health workers. Methods: A 37-item instrument in Hindi with dichotomous yes/no responses [Chandigarh Autism Screening Instrument (CASI)] was developed to be applied on children aged 1.5-10 yr. The instrument was pilot tested and then reliability and validity of this instrument were tested. The sample included children with intellectual disability (n=75), ASD (n=83), other developmental disorders (n=87) and typically developing children (n=160). Results: Reliability, construct and content validity testing of the instrument were performed, and a score of 10 as cut-off had sensitivity of 89.16 per cent, specificity of 89.13 per cent, positive predictive value of 67.89 per cent and negative predictive value of 96.96 per cent. A shorter four-item version (CASI Bref) has also been developed with good sensitivity (73.49%) and specificity (90.68%) at a cut-off score of 2. Interpretation & conclusions: CASI was found to be a valid instrument for screening general Hindi speaking population of north India with adequate sensitivity and specificity.
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4. Bi XA, Liu Y, Jiang Q, Shu Q, Sun Q, Dai J. {{The Diagnosis of Autism Spectrum Disorder Based on the Random Neural Network Cluster}}. {Front Hum Neurosci}. 2018; 12: 257.
As the autism spectrum disorder (ASD) is highly heritable, pervasive and prevalent, the clinical diagnosis of ASD is vital. In the existing literature, a single neural network (NN) is generally used to classify ASD patients from typical controls (TC) based on functional MRI data and the accuracy is not very high. Thus, the new method named as the random NN cluster, which consists of multiple NNs was proposed to classify ASD patients and TC in this article. Fifty ASD patients and 42 TC were selected from autism brain imaging data exchange (ABIDE) database. First, five different NNs were applied to build five types of random NN clusters. Second, the accuracies of the five types of random NN clusters were compared to select the highest one. The random Elman NN cluster had the highest accuracy, thus Elman NN was selected as the best base classifier. Then, we used the significant features between ASD patients and TC to find out abnormal brain regions which include the supplementary motor area, the median cingulate and paracingulate gyri, the fusiform gyrus (FG) and the insula (INS). The proposed method provides a new perspective to improve classification performance and it is meaningful for the diagnosis of ASD.
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5. Dwyer P, Xu B, Tanaka JW. {{Investigating the perception of face identity in adults on the autism spectrum using behavioural and electrophysiological measures}}. {Vision research}. 2018.
In the present study, we investigated face processing in individuals with self-reported Autism Spectrum Disorder (ASD, n=16) and typically developing control participants (n=16) using behavioural and electrophysiological measures. As a measure of their face memory, we admistered the Cambridge Face Memory Test to participants in the ASD group. The results showed that the scores of the ASD participants were reliably below the age- and gender-matched norms of neurotypical individuals. To measure brain responses to faces, we used the fast periodic visual stimulation method, presenting photographs of a same-identity face (i.e., base face) at a constant frequency of 6 Hz (F) interleaved with different-identity faces (i.e., the oddball faces) presented at 1.2 Hz. The 6 Hz presentation of the base face and 1.2 Hz presentation of the oddball face elicited periodic brain responses corresponding to face detection and face individuation processes, respectively. Participants viewed four blocks of upright faces and four blocks of inverted faces. The results showed an enhanced EEG response to upright base faces at 6 Hz frequency and its harmonics compared to inverted faces, and the response was most focal over medial occipital channels. An enhanced response was found to upright oddball faces at 1.2 Hz and its harmonics compared to the inverted faces, and the response was centred over occipito-temporal channels in the right hemisphere. Critically, no differences or interactions were found between the ASD and typically developing groups in the responses to either the 6 Hz base faces or the 1.2 oddball faces. These results suggest that in individuals with ASD, the earlier stage of face perception, as measured by the fast periodic visual stimulation paradigm, can be dissociated from the later memory stage of face processing, as assessed by the Cambridge Face Memory Test .
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6. Friedman C, Feldner HA. {{Physical Therapy Services for People With Intellectual and Developmental Disabilities: The Role of Medicaid Home and Community Based Service Waivers}}. {Physical therapy}. 2018.
Background: Care and supports for people with intellectual and developmental disabilities (IDD) in natural community contexts are increasing. Many people with IDD use physical therapy services to support their community participation. Medicaid Home and Community Based Services (HCBS) 1915(c) waivers are the largest providers of long-term services and supports for people with IDD. However, little is known about physical therapy provision under this program. Objective: The aim of this study was to compare the operational definitions of physical therapy service under the HBCS 1915(c) waiver system and to describe projected physical therapy service utilization, spending, and reimbursement for people with IDD across states. Design: This was a cross-sectional, descriptive study. Methods: This study analyzed fiscal year 2015 HCBS IDD waivers from across the nation (N = 111), focusing on physical therapy utilization (total projected spending, total participants, reimbursement rates, and average annual service provision per participant). Service definitions were also analyzed to determine trends across waivers. Results: Fifty-one waivers (45.9%) provided 61 different types of physical therapy services in fiscal year 2015. States utilized waivers to provide long-term remedial care rather than the acute short-term physical therapy. HCBS waiver physical therapy services were often provided in participants’ homes and communities to expand physical therapy access and secure the benefits of providing physical therapy services in natural environments. Although most states have adopted similar definitions of physical therapy service, procedures and services vary. Limitations: Medicaid HCBS waivers are state projections made to the federal government rather than actual utilization data. Conclusions: Physical therapy service definitions, projected service utilization, spending, and reimbursement for people with IDD who use Medicaid HCBS waivers varies greatly between states. Physical therapy may be utilized less than expected given the reported benefits for people with IDD.
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7. Garbarino VR, Gilman TL, Daws LC, Gould GG. {{Extreme Enhancement or Depletion of Serotonin Transporter Function and Serotonin Availability in Autism Spectrum Disorder}}. {Pharmacological research}. 2018.
A variety of human and animal studies support the hypothesis that serotonin (5-hydroxytryptamine or 5-HT) system dysfunction is a contributing factor to the development of autism in some patients. However, many questions remain about how developmental manipulation of various components that influence 5-HT signaling (5-HT synthesis, transport, metabolism) persistently impair social behaviors. This review will summarize key aspects of central 5-HT function important for normal brain development, and review evidence implicating perinatal disruptions in 5-HT signaling in the pathophysiology of autism spectrum disorder. We discuss the importance, and relative dearth, of studies that explore the possible correlation to autism in the interactions between important intrinsic and extrinsic factors that may disrupt 5-HT homeostasis during development. In particular, we focus on exposure to 5-HT transport altering mechanisms such as selective serotonin-reuptake inhibitors or genetic polymorphisms in primary or auxiliary transporters of 5-HT, and how they relate to neurological stores of serotonin and its precursors. A deeper understanding of the many mechanisms by which 5-HT signaling can be disrupted, alone and in concert, may contribute to an improved understanding of the etiologies and heterogeneous nature of this disorder. We postulate that extreme bidirectional perturbations of these factors during development likely compound or synergize to facilitate enduring neurochemical changes resulting in insufficient or excessive 5-HT signaling, that could underlie the persistent behavioral characteristics of autism spectrum disorder.
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8. Hayes J, Ford T, Rafeeque H, Russell G. {{Clinical practice guidelines for diagnosis of autism spectrum disorder in adults and children in the UK: a narrative review}}. {BMC Psychiatry}. 2018; 18(1): 222.
BACKGROUND: Research suggests that diagnostic procedures for Autism Spectrum Disorder are not consistent across practice and that diagnostic rates can be affected by contextual and social drivers. The purpose of this review was to consider how the content of clinical practice guidelines shapes diagnoses of Autism Spectrum Disorder in the UK; and investigate where, within those guidelines, social factors and influences are considered. METHODS: We electronically searched multiple databases (NICE Evidence Base; TRIP; Social Policy and Practice; US National Guidelines Clearinghouse; HMIC; The Cochrane Library; Embase; Global health; Ovid; PsychARTICLES; PsychINFO) and relevant web sources (government, professional and regional NHS websites) for clinical practice guidelines. We extracted details of key diagnostic elements such as assessment process and diagnostic tools. A qualitative narrative analysis was conducted to identify social factors and influences. RESULTS: Twenty-one documents were found and analysed. Guidelines varied in recommendations for use of diagnostic tools and assessment procedures. Although multidisciplinary assessment was identified as the ‘ideal’ assessment, some guidelines suggested in practice one experienced healthcare professional was sufficient. Social factors in operational, interactional and contextual areas added complexity to guidelines but there were few concrete recommendations as to how these factors should be operationalized for best diagnostic outcomes. CONCLUSION: Although individual guidelines appeared to present a coherent and systematic assessment process, they varied enough in their recommendations to make the choices available to healthcare professionals particularly complex and confusing. We recommend a more explicit acknowledgement of social factors in clinical practice guidelines with advice about how they should be managed and operationalised to enable more consistency of practice and transparency for those coming for diagnosis.
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9. Khanjani Z, Azmoodeh S, Mahmoudaliloo M, Noorazar G. {{A Comparison of Autistic Like Traits in the Relatives of Patients with Autism and Schizophrenia Spectrum Disorder}}. {Iranian journal of psychiatry}. 2018; 13(2): 148-53.
Objective: This study aimed to identify autistic like traits in relatives of patients with schizophrenia and autism spectrum disorder. Method: causal-comparative research design was utilized. Fifty individuals among the first degree relatives of patients with autism spectrum disorder and 50 individuals among the first degree relatives of patients with schizophrenia spectrum disorder were selected. Autistic-like traits were evaluated by Autism-Spectrum Quotient (AQ). Multivariate analysis of variance was used to compare the autistic like traits in two groups. Results: First degree relatives of individuals with autism spectrum disorder got higher scores in deficiency of social skill, deficiency of communication, deficiency of attention, and attention to details. As well as they got lower scores in deficiency of imagination, in comparison to relatives of individuals with schizophrenia spectrum disorder. Conclusion: Relatives of individuals with autism spectrum disorder compared to relatives of patients with schizophrenia spectrum disorder showed higher rates of autistic like traits. Only the exception was imagination subscale.
10. Locke J, Shih W, Kang-Yi CD, Caramanico J, Shingledecker T, Gibson J, Frederick L, Mandell DS. {{The impact of implementation support on the use of a social engagement intervention for children with autism in public schools}}. {Autism}. 2018: 1362361318787802.
Several interventions have demonstrated efficacy in improving social outcomes for children with autism; however, few have been successfully implemented in schools. This study compared two implementation strategies to improve the use of a social engagement intervention for children with autism in public schools. In total, 31 children with autism in grades K-5 and 28 school personnel participated in a randomized controlled trial. Schools were randomized to (1) training in Remaking Recess, a social engagement intervention, or (2) training in Remaking Recess with implementation support. Linear regression with random effects was used to test the intervention effects on implementation fidelity and social outcomes (peer engagement, social network inclusion, and friendship nominations). In both groups, implementation fidelity improved after training but remained low. Children in the Remaking Recess with implementation support condition had significantly higher social network inclusion and received more friendship nominations than children in the Remaking Recess-only condition (p = 0.03). Children in both groups experienced reduced solitary engagement (p < 0.001) and increased joint engagement (p < 0.001). The results suggest that implementation supports may have an effect on outcomes above and beyond the intervention, and that further research is needed into the active intervention mechanisms. Lien vers le texte intégral (Open Access ou abonnement)
11. Najdowski AC, St Clair M, Fullen JA, Child A, Persicke A, Tarbox J. {{Teaching children with autism to identify and respond appropriately to the preferences of others during play}}. {Journal of applied behavior analysis}. 2018.
We observed three children with autism spectrum disorder during structured play dates in which play partners displayed interest or disinterest in the toys with which they were playing. We then taught subjects to identify play partners’ preferences and to make appropriate toy offers using a multiple-exemplar training package consisting of rules, midplay preference questions, prompting, and praise with observed generalization across untrained partners.
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12. Qin B, Wang L, Zhang Y, Cai J, Chen J, Li T. {{Enhanced Topological Network Efficiency in Preschool Autism Spectrum Disorder: A Diffusion Tensor Imaging Study}}. {Frontiers in psychiatry}. 2018; 9: 278.
Background: The functional mechanism behind autism spectrum disorder (ASD) is not clear, but it is related to a brain connectivity disorder. Previous studies have found that functional brain connectivity of ASD is linked to both increased connections and weakened connections, and the inconsistencies in functional brain connectivity may be related to age. The functional connectivity in adolescents and adults with ASD is generally less than in age-matched controls; functional connectivity in younger children with the disorder appears to be higher. As the basis of the functional network, the structural network is less studied. This study intends to further study the pathogenesis of ASD by analyzing the white matter network of ASD preschool children. Materials and Methods: In this study, Diffusion Tensor Imaging (DTI) was used to scan preschool children (aged 2-6 years, 39 children with ASD, 19 children as controls), and graph theory was used for analysis. Result: Enhanced topological network efficiency was found in the preschool children with ASD. A higher nodal efficiency was found in the left precuneus, thalamus, and bilateral superior parietal cortex, and the nodal efficiency of the left precuneus was positively associated with the severity of ASD. Conclusion: Our research shows the white matter network efficiency of preschoolers with ASD. It supports the theory of excessive early brain growth in ASD, and it shows left brain lateralization. It opens the way for new research perspectives of children with ASD.
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13. Robillard M, Roy-Charland A, Cazabon S. {{The Role of Cognition on Navigational Skills of Children and Adolescents With Autism Spectrum Disorders}}. {Journal of speech, language, and hearing research : JSLHR}. 2018; 61(7): 1579-90.
Purpose: This study examined the role of cognition on the navigational process of a speech-generating device (SGD) among individuals with a diagnosis of autism spectrum disorder (ASD). The objective was to investigate the role of various cognitive factors (i.e., cognitive flexibility, sustained attention, categorization, fluid reasoning, and working memory) on the ability to navigate an SGD with dynamic paging and taxonomic grids in individuals with ASD. Method: Twenty individuals aged 5 to 20 years with ASD were assessed using the Leiter International Performance Scale-Revised (Roid & Miller, 1997) and the Automated Working Memory Assessment (Alloway, 2007). They also completed a navigational task using an iPad 4 (Apple, 2017; taxonomic organization). Results: Significant correlations between all of the cognitive factors and the ability to navigate an SGD were revealed. A stepwise linear regression suggested that cognitive flexibility was the best predictor of navigational ability with this population. Conclusion: The importance of cognition in the navigational process of an SGD with dynamic paging in children and adolescents with ASD has been highlighted by the results of this study.
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14. Safra L, Ioannou C, Amsellem F, Delorme R, Chevallier C. {{Distinct effects of social motivation on face evaluations in adolescents with and without autism}}. {Sci Rep}. 2018; 8(1): 10648.
Individual differences in social motivation have an influence on many behaviours in both clinical and non-clinical populations. As such, social motivation has been identified as a biological trait that is particularly well-suited for dimensional approaches cutting across neuropsychological conditions. In the present paper, we tested whether social motivation had a similar impact in the general population and in a neuropsychological condition characterized by diminished social motivation: Autism Spectrum Disorders (ASD). More precisely, we evaluated the effect of social motivation on face evaluations in 20 adolescents with ASD and 20 matched controls using avatars parametrically varying in dominance and trustworthiness. In line with previous research, we found in the control group that participants with higher levels of social motivation relied more on perceived trustworthiness when producing likeability judgments. However, this pattern was not found in the ASD group. Social motivation thus appears to have a different effect in ASD and control populations, which raises questions about the relevance of subclinical or non-clinical populations to understand ASD.
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15. Shovlin S, Tropea D. {{Transcriptome level analysis in Rett syndrome using human samples from different tissues}}. {Orphanet journal of rare diseases}. 2018; 13(1): 113.
The mechanisms of neuro-genetic disorders have been mostly investigated in the brain, however, for some pathologies, transcriptomic analysis in multiple tissues represent an opportunity and a challenge to understand the consequences of the genetic mutation. This is the case for Rett Syndrome (RTT): a neurodevelopmental disorder predominantly affecting females that is characterised by a loss of purposeful movements and language accompanied by gait abnormalities and hand stereotypies. Although the genetic aetiology is largely associated to Methyl CpG binding protein 2 (MECP2) mutations, linking the pathophysiology of RTT and its clinical symptoms to direct molecular mechanisms has been difficult.One approach used to study the consequences of MECP2 dysfunction in patients, is to perform transcriptomic analysis in tissues derived from RTT patients or Induced Pluripotent Stem cells. The growing affordability and efficiency of this approach has led to a far greater understanding of the complexities of RTT syndrome but is also raised questions about previously held convictions such as the regulatory role of MECP2, the effects of different molecular mechanisms in different tissues and role of X Chromosome Inactivation in RTT.In this review we consider the results of a number of different transcriptomic analyses in different patients-derived preparations to unveil specific trends in differential gene expression across the studies. Although the analyses present limitations- such as the limited sample size- overlaps exist across these studies, and they report dysregulations in three main categories: dendritic connectivity and synapse maturation, mitochondrial dysfunction, and glial cell activity.These observations have a direct application to the disorder and give insights on the altered mechanisms in RTT, with implications on potential diagnostic criteria and treatments.
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16. Sotoudeh Navroodi SO, Nicknam M, Ahmadi A, Roodbarde FP, Azami S. {{Examining the Effectiveness of Group Positive Parenting Training on Increasing Hope and Life Satisfaction in Mothers of Children with Autism}}. {Iranian journal of psychiatry}. 2018; 13(2): 128-34.
Objective: Parents of children with autism spectrum disorders are exposed to mental distress because of having a disabled child more than parents with children with other psychological disorders, and their children’s disorder has a negative effect on their hope and life satisfaction. The present study aimed to examining the effectiveness of group positive parenting training on increasing hope and life satisfaction in mothers of children with autism. Method: This was a quasi-experimental study with pretest, posttest, and control and experimental groups. Mothers with autistic children (6-15 years) in Rasht consisted the statistical population of the study. All the children had a medical record and autism diagnosis based on DSM-IV-TR by a psychiatrist. Hope Questionnaires by Snyder and Life Satisfaction Questionnaire by Diener were implemented. Participants of the experimental group received positive parenting training for 8 sessions, and participants of the control group were put in the state of waiting. Descriptive statistics (mean, standard deviation, frequency, and percentage) and inferential statistics (univariate and multivariate covariance analysis) were used for data analysis. Results: In this study, 27 mothers of children with autism were examined. The mean and standard deviation of the age of mothers in the experimental group was 36.14+/- 2.47 years and it was 37+/- 3.62 years for mothers in the control group. The results of univariate covariance analysis revealed a significant difference between the scores of pretest and posttest of the experimental and control groups in life satisfaction (Sum of square = 16.558, F = 13.534, DF = 1, P = 0.002, =n^2 = 0.361). Conclusion: The results of this study showed that using group positive parenting training can have a positive effect on dimensions of hope and life satisfaction in mothers of children with autism spectrum disorder.
17. Yang Q, Huang P, Li C, Fang P, Zhao N, Nan J, Wang B, Gao W, Cui LB. {{Mapping alterations of gray matter volume and white matter integrity in children with autism spectrum disorder: evidence from fMRI findings}}. {Neuroreport}. 2018.
This study aimed to identify the neuroanatomical substrates and white matter connectivity in children with autism spectrum disorder (ASD) and the association between gray matter and structural connectivity. A total of 36 children including patients with ASD and healthy controls between 6 and 15 years of age were enrolled in this study. High-resolution structural MRI and functional MRI were performed and analyzed using voxel-based morphometry and tract-based spatial statistics. The relationship between gray matter volume and structural connectivity was generated using Pearson correlation analysis. Voxel-based morphometry analysis showed significantly reduced areas of gray matter in the left cerebellum. Tract-based spatial statistics analysis showed white matter abnormalities in several distinct clusters within the right inferior frontal gyrus (opercular part), the left inferior parietal lobule, and the right mentary motor area. Neither ASD nor healthy controls showed a significant correlation between gray matter volume and white matter integrity. Our study confirmed the presence of several structural and regional abnormalities in ASD children. These findings suggest that there are significant differences in some brain regions in children with autism relative to healthy children, but no association between them.
