1. Amiri AM, Peltier N, Goldberg C, Sun Y, Nathan A, Hiremath SV, Mankodiya K. {{WearSense: Detecting Autism Stereotypic Behaviors through Smartwatches}}. {Healthcare (Basel)};2017 (Feb 28);5(1)
Autism is a complex developmental disorder that affects approximately 1 in 68 children (according to the recent survey conducted by the Centers for Disease Control and Prevention-CDC) in the U.S., and has become the fastest growing category of special education. Each student with autism comes with her or his own unique needs and an array of behaviors and habits that can be severe and which interfere with everyday tasks. Autism is associated with intellectual disability, impairments in social skills, and physical health issues such as sleep and abdominal disturbances. We have designed an Internet-of-Things (IoT) framework named WearSense that leverages the sensing capabilities of modern smartwatches to detect stereotypic behaviors in children with autism. In this work, we present a study that used the inbuilt accelerometer of a smartwatch to detect three behaviors, including hand flapping, painting, and sibbing that are commonly observed in children with autism. In this feasibility study, we recruited 14 subjects to record the accelerometer data from the smartwatch worn on the wrist. The processing part extracts 34 different features in each dimension of the three-axis accelerometer, resulting in 102 features. Using and comparing various classification techniques revealed that an ensemble of 40 decision trees has the best accuracy of around 94.6%. This accuracy shows the quality of the data collected from the smartwatch and feature extraction methods used in this study. The recognition of these behaviors by using a smartwatch would be helpful in monitoring individuals with autistic behaviors, since the smartwatch can send the data to the cloud for comprehensive analysis and also to help parents, caregivers, and clinicians make informed decisions.
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2. Bahi A. {{Hippocampal BDNF overexpression or microR124a silencing reduces anxiety- and autism-like behaviors in rats}}. {Behav Brain Res};2017 (Mar 08)
MicroRNA124a (miR124a) has emerged recently as a key player for multiple neuropsychiatric disorders including depression, anxiety, alcoholism, and cocaine addiction. Although we have previously reported that miR124a and its target the brain-derived neutrophic factor (BDNF) play an important role in autism-like behaviors, the molecular and behavioral dysfunctions remain unknown. The aim of this study was to understand the effects of sustained decreases in miR124a and increases of BDNF in the dentate gyrus (DG) on neonatal isolation-induced anxiety-and autism like behaviors in rats. Here we report that lentiviral-mediated silencing of miR124a in the adult DG attenuated neonatal isolation-induced anxiety-like behavior in the elevated plus maze (EPM) and open-field (OF) tests. Also, miR124a silencing decreased autism-like phenotype in the marble burying test (MBT), self-grooming (SG), and social interaction tests. Pearson’s correlations demonstrated that high levels of BDNF, a direct target of miR124a, were negatively correlated with miR124a expression. Interestingly, viral-mediated BDNF overexpression in the DG also reversed the neonatal isolation-induced anxiety-and autism like phenotypes. Collectively, these findings suggest that miR124a, through its target BDNF, may influence neonatal isolation-induced anxiety-and autism like behaviors. In conclusion, these results do support the hypothesis that miR124a in discrete hippocampal areas contributes to anxiety- and autism-like behaviors and may be involved in the neuroadaptations underlying the development of autism spectrum disorders as a persistent and lasting condition, and therefore provide a clearer mechanistic framework for understanding the physiopathology of such psychiatric illnesses.
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3. Bennett JA, Hodgetts S, Mackenzie ML, Haqq AM, Zwaigenbaum L. {{Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study}}. {Int J Mol Sci};2017 (Feb 28);18(3)
Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.
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4. Chen C, Shen YD, Xun GL, Cai WX, Shi LJ, Xiao L, Wu RR, Zhao JP, Ou JJ. {{Aggressive behaviors and treatable risk factors of preschool children with autism spectrum disorder}}. {Autism Res};2017 (Mar 07)
Aggressive behaviors of children with autism spectrum disorder (ASD) are common. We conducted this study to describe the aggressive mode of preschool children with ASD and examine the associations between specific aggressive behaviors and two treatable factors: sleep problems and attention deficit hyperactivity disorder (ADHD) symptoms. In total, 577 typically developing (TD) children and 490 children with ASD were investigated in this study. The Institute for Basic Research – Modified Overt Aggression Scale (IBR-MOAS) was used to assess aggressive behaviors. Children’s social impairments, sleep problems and ADHD symptoms were also measured with specific scales. The total IBR-MOAS score was significantly higher (worse) in the TD group [4.47 (5.36)] than in the ASD group [3.47 (5.63), P = 0.004]. The aggressive modes differed between groups: when compared with each other, the TD group received higher scores on Verbal and Physical Aggression Toward Others (all P < 0.01), while the ASD group had higher scores on Physical Aggression Against Self (P = 0.006). The linear regression model demonstrated that the aggressive behaviors of children with ASD were significantly associated with two treatable factors: sleep problems and ADHD symptoms. These findings have substantial clinical implications: treatment of these two risk factors may be helpful in managing aggressive behavior in children with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
5. Chin Wong L, Hung PL, Jan TY, Lee WT. {{Variations of stereotypies in individuals with Rett syndrome: A nationwide cross-sectional study in Taiwan}}. {Autism Res};2017 (Mar 08)
Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 14 +/- 6) compared to those with typical RTT (mean: 9 +/- 5) (P = 0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P = 0.003, P = 0.006, P = 0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P = 0.012), clapping (P = 0.044), and mouthing with single hand (P = 0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
6. Costa AP, Steffgen G, Samson AC. {{Expressive Incoherence and Alexithymia in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Mar 06)
Expressive incoherence can be implicated in socio-emotional communicative problems in autism spectrum disorder (ASD). The present study examined expressive incoherence in 37 children with ASD and 41 typically developing (TD) children aged 3-13 years old during a frustration task. The role of alexithymia in expressive incoherence was also assessed. Compared to TD children, children with ASD had higher expressive incoherence, such as more neutral and positive emotion expressions during negative behaviors, but not in the expression of negative emotions during positive behaviors. Further analyses revealed that alexithymia moderated the expressions of positive emotions during negative behaviors. These results suggest that children with ASD may benefit from interventions targeting alexithymia to increase emotional coherence, which may improve socio-emotional communication.
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7. Craig F, Fanizza I, Russo L, Lucarelli E, Alessandro L, Pasca MG, Trabacca A. {{Social communication in children with autism spectrum disorder (asd): Correlation between DSM-5 and autism classification system of functioning-social communication (ACSF:SC)}}. {Autism Res};2017 (Mar 07)
The aim of this study was to classify children with Autism Spectrum Disorder (ASD) according to Autism Classification System of Functioning: Social Communication (ACSF:SC) criteria, in order to investigate the association between social communication ability, ASD severity, adaptive functioning, cognitive abilities and psychoeducational profile. The severity of social communication impairment was specified through Diagnostic and Statistical Manual of Mental Disorders-5th edition (DSM-5) and ACSF:SC tool. The ADOS-2, Vineland-II and PEP-3 were administered to all participants. We found a positive correlation between DSM-5 levels and ACSF:SC-Typical Performance (r = 0.35; P = 0.007) and ACSF:SC-Capacity (r = 0.31; P = 0.01) levels. Children included in the five levels of ACSF:SC (Typical Performance and Capacity) showed statistically significant differences in ADOS-2 (Social Affect), Vineland-II (Communication and Socialization), and PEP-3 (Communication, motor skills, maladaptive behavior) scores. The results of this study indicate that ACSF:SC provide a better understanding of functional profile of children with ASD based on the social communication abilities. Children with greater severity of social communication showed more difficulty in adaptive behavior and psychoeducational profiles. In conclusion, the ACSF:SC could help clinicians and therapists not only to understand the strength and weakness of preschool children with ASD but also to devise specific treatment in order to promote their social integration. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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8. Endres D, Maier S, Feige B, Posielski NA, Nickel K, Ebert D, Riedel A, Philipsen A, Perlov E, Tebartz van Elst L. {{Altered Intermittent Rhythmic Delta and Theta Activity in the Electroencephalographies of High Functioning Adult Patients with Autism Spectrum Disorder}}. {Front Hum Neurosci};2017;11:66.
Background: Autism spectrum disorder (ASD) is often associated with epilepsy. Previous studies have also shown increased rates of electroencephalographic (EEG) alteration in ASD patients without epilepsy. The aim of this study was to compare the rate of intermittent rhythmic delta and theta activity (IRDA/IRTA) events between high-functioning adult patients with ASD and matched healthy controls. Materials and Methods: Routine EEG records of 19 ASD patients and 19 matched controls were screened for IRDA/IRTA using a fully data driven analysis with fixed thresholds. IRDA/IRTA rates before and after hyperventilation (HV) as well as the HV-induced difference in IRDA/IRTA rates (HV difference) were analyzed. For inter-group measures, we used the Wilcoxon rank sum test. Results: Significantly increased HV difference was detected in the ASD group (p = 0.0497). However, the groups showed no difference in IRDA/IRTA rates before HV (p = 0.564) and after HV (p = 0.163). Conclusions: The lack of any group differences regarding IRDA/IRTA before HV might be related to the fact that we only studied non-secondary high-functioning autism in a small sample of epilepsy-free adult patients. A significantly increased HV difference might be regarded as a marker of subtle neuronal network instability possibly causing short-term disturbances via local area network inhibition and long-term effects via epileptic encephalopathy.
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9. Franz L, Chambers N, von Isenburg M, de Vries PJ. {{Autism spectrum disorder in sub-saharan africa: A comprehensive scoping review}}. {Autism Res};2017 (Mar 07)
Autism spectrum disorder (ASD) is recognized as a global public health concern, yet almost everything we know about ASD comes from high-income countries. Here we performed a scoping review of all research on ASD ever published in sub-Saharan Africa (SSA) in order to identify ASD knowledge gaps in this part of the world. Fifty-three publications met inclusion criteria. Themes included the phenotype, genetics and risk factors for ASD in SSA, screening and diagnosis, professional knowledge, interventions for ASD, parental perceptions, and social-cognitive neuroscience. No epidemiological, early intervention, school-based or adult studies were identified. For each identified theme, we aimed to summarize results and make recommendations to fill the knowledge gaps. The quality of study methodologies was generally not high. Few studies used standardized diagnostic instruments, and intervention studies were typically small-scale. Overall, findings suggest a substantial need for large-scale clinical, training, and research programmes to improve the lives of people who live with ASD in SSA. However, SSA also has the potential to make unique and globally-significant contributions to the etiology and treatments of ASD through implementation, interventional, and comparative genomic science. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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10. Fridenson-Hayo S, Berggren S, Lassalle A, Tal S, Pigat D, Meir-Goren N, O’Reilly H, Ben-Zur S, Bolte S, Baron-Cohen S, Golan O. {{‘Emotiplay’: a serious game for learning about emotions in children with autism: results of a cross-cultural evaluation}}. {Eur Child Adolesc Psychiatry};2017 (Mar 08)
Children with autism spectrum conditions (ASC) experience difficulties recognizing others’ emotions and mental states. It has been shown that serious games (SG) can produce simplified versions of the socio-emotional world. The current study performed a cross-cultural evaluation (in the UK, Israel and Sweden) of Emotiplay’s SG, a system aimed to teach emotion recognition (ER) to children with ASC in an entertaining, and intrinsically motivating way. Participants were 6-9 year olds with high functioning ASC who used the SG for 8-12 weeks. Measures included face, voice, body, and integrative ER tasks, as well as parent-reported level of autism symptoms, and adaptive socialization. In the UK, 15 children were tested before and after using the SG. In Israel (n = 38) and Sweden (n = 36), children were randomized into a SG or a waiting list control group. In the UK, results revealed that 8 weeks of SG use significantly improved participants’ performance on ER body language and integrative tasks. Parents also reported their children improved their adaptive socialization. In Israel and Sweden, participants using the SG improved significantly more than controls on all ER measures. In addition, parents in the Israeli SG group reported their children showed reduced autism symptoms after using the SG. In conclusion, Emotiplay’s SG is an effective and motivating psycho-educational intervention, cross-culturally teaching ER from faces, voices, body language, and their integration in context to children with high functioning ASC. Local evidence was found for more generalized gains to socialization and reduced autism symptoms.
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11. Gorker I, Gurkan H, Demir Ulusal S, Atli E, Ikbal Atli E. {{A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder}}. {Balkan J Med Genet};2016 (Dec 01);19(2):85-90.
Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate to profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescent in situ hybridization (FISH) technique. The 22q13.3 deletion was found to be de novo in our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescent in situ hybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.
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12. Graf WD, Miller G, Epstein LG, Rapin I. {{The autism « epidemic »: Ethical, legal, and social issues in a developmental spectrum disorder}}. {Neurology};2017 (Mar 08)
Classic autism has gradually evolved into the concept of a larger « spectrum disorder. » The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments. Each group may have different views of autism/ASD diagnostic criteria, screening, testing, and the effectiveness of various interventions. All see timely diagnosis as desirable, but earlier diagnosis may not be better, morally or practically. The growing practice of genetic testing in milder ASD raises ethical questions because of its uncertain scientific validity and limited clinical utility. Individuals with autism/ASD have various kinds of needs but all want acceptance and most deserve better accommodations. Governments struggle to provide a fair allocation of appropriate special education and supportive services. This article examines the evolving dimensions of the autism/ASD diagnosis, outlines certain bioethics principles related to its evaluation and management, reviews relevant laws and disability rights, and emphasizes the societal obligation to recognize neurodevelopmental variation and human neurodiversity. Future directions in the evaluation and care of autism/ASD should attempt to integrate the roles and responsibilities of all agents caring for each unique autistic individual.
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13. Hirosawa T, Kikuchi M, Ouchi Y, Takahashi T, Yoshimura Y, Kosaka H, Furutani N, Hiraishi H, Fukai M, Yokokura M, Yoshikawa E, Bunai T, Minabe Y. {{A pilot study of serotonergic modulation after long-term administration of oxytocin in autism spectrum disorder}}. {Autism Res};2017 (Mar 07)
Oxytocin (OT) and the serotonergic system putatively play important roles in autism spectrum disorder (ASD) etiology and symptoms, but no direct neurobiological evidence exists for long-term OT administration effects on the brain’s serotonergic system. This pilot study examined 10 male participants with ASD who were administered OT intranasally for 8-10 weeks in an open-label, single-arm, nonrandomized, and uncontrolled manner. Positron emission tomography (PET) with a radiotracer (11 C)-3-amino-4-(2-[(dimethylamino)methyl]phenylthio)benzonitrile (11 C-DASB) was used before and after OT treatment. The binding potential of serotonin transporter (11 C-DASB BPND ) was then estimated. The main outcome measures were changes in 11 C-DASB BPND and their correlation with changes in symptoms. ASD participants showed significantly elevated 11 C-DASB BPND in the left inferior frontal gyrus extending to the left middle frontal gyrus. No significant correlation was found between the change in any clinical symptom and the change in 11 C-DASB BPND . This report of a pilot study is the first describing long-term effects of OT on the brain’s serotonin system in ASD. Additional randomized controlled studies must be conducted to confirm whether activation of the serotonergic system contributes to the prosocial effect of OT in people with ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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14. Jeste SS, Schor NF. {{Autism today: Have we put the cart before the horse?}}. {Neurology};2017 (Mar 08)
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15. Khanzada NS, Butler MG, Manzardo AM. {{GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia}}. {Int J Mol Sci};2017 (Feb 28);18(3)
Bipolar disorder (BPD) and schizophrenia (SCH) show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD) with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes), BPD (290 genes) and SCH (560 genes). Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e.g., diseases, tissues or functional pathways). Twenty-three genes were common to all three disorders and mapped to nine biological Superpathways including Circadian entrainment (10 genes, score = 37.0), Amphetamine addiction (five genes, score = 24.2), and Sudden infant death syndrome (six genes, score = 24.1). Brain tissues included the medulla oblongata (11 genes, score = 2.1), thalamus (10 genes, score = 2.0) and hypothalamus (nine genes, score = 2.0) with six common genes (BDNF, DRD2, CHRNA7, HTR2A, SLC6A3, and TPH2). Overlapping genes impacted dopamine and serotonin homeostasis and signal transduction pathways, impacting mood, behavior and physical activity level. Converging effects on pathways governing circadian rhythms support a core etiological relationship between neuropsychiatric illnesses and sleep disruption with hypoxia and central brain stem dysfunction.
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16. Mitchell R, Barton S, Harvey AS, Williams K. {{Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review}}. {Syst Rev};2017 (Mar 08);6(1):49.
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as « tuberous sclerosis-associated neuropsychiatric disorders », or « TAND ». ASD in TSC is of particular importance because (1) it affects up to 50% of people with TSC and is a source of considerable difficulty for them and their families and (2) it provides a model for considering neurobiological pathways involved in ASD. Multiple factors are implicated in the development of ASD in TSC, including (1) seizures and related electrophysiological factors, (2) cerebral pathology, (3) genotype and (4) child characteristics. However, the neurobiological pathway remains unclear. We will conduct a systematic review to investigate and synthesise existing evidence about the role of these risk factors, individually and in combination, in leading to the development of ASD. METHODS: Our review will report on all studies that include one or more of four predefined risk factors in the development of ASD in children with TSC. We will search five databases: MEDLINE, EMBASE, PubMed, The Cochrane Library and Web of Science (Conference Proceedings Citation Index). Studies will be selected for reporting after two authors independently (1) review all titles and abstracts, (2) read full text of all appropriate papers and (3) assess for bias using the Newcastle-Ottawa Scale recommended by the Guidelines for Meta-Analysis and Systematic Reviews of Observational Studies (MOOSE guidelines) and the ROBINS-I. DISCUSSION: To our knowledge, this is the first systematic review investigating multiple risk factors in the development of ASD in children with TSC. Clarifying the evidence in this area will be important to researchers in the field and to clinicians providing prognostic information to families. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42016042841.
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17. Onay H, Kacamak D, Kavasoglu AN, Akgun B, Yalcinli M, Kose S, Ozbaran B. {{Mutation analysis of the NRXN1 gene in autism spectrum disorders}}. {Balkan J Med Genet};2016 (Dec 01);19(2):17-22.
The aim of this study was to identify the sequence mutations in the Neurexin 1 (NRXN1) gene that has been considered as one of the strong candidate genes. A total of 30 children and adolescents (aged 3-18) with non syndromic autism were enrolled this study. Sequencing of the coding exons and the exon-intron boundaries of the NRXN1 gene was performed. Two known mutations were described in two different cases. Heterozygous S14L was determined in one patient and heterozygous L748I was determined in another patient. The S14L and L748I mutations have been described in the patients with autism before. Both of these mutations were inherited from their father. In this study, two of 30 (6.7%) autism spectrum disorder (ASD) patients carrying NRXN1 gene mutations were detected. It indicates that variants in the NRXN1 gene might confer a risk of developing nonsyndromic ASD. However, due to the reduced penetrance in the gene, the causal role of the NRXN1 gene mutations must be evaluated carefully in all cases.
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18. South M, Carr AW, Stephenson KG, Maisel ME, Cox JC. {{Short report: Symptom overlap on the srs-2 adult self-report between adults with asd and adults with high anxiety}}. {Autism Res};2017 (Mar 07)
Many people diagnosed with autism spectrum disorder (ASD) also experience significant symptoms of anxiety, while many people with anxiety disorders likewise experience social difficulties. These concerns can be difficult to tease apart in general clinical settings. The Social Responsiveness Scale (SRS) is one of the most frequently used measures of dimensional ASD symptoms. In order to investigate the overlap of autism and anxiety on the SRS, we compared three groups of adults (an ASD group, n = 40; a high anxious group, n = 56; and a typical comparison group, n = 29) using the new Adult Self Report version of the SRS-2nd Edition (SRS-2-ASR) alongside a battery of anxiety questionnaires. Based on previous research with children from the parent-report SRS (first edition), we hypothesized that the SRS-2-ASR would have difficulty discriminating between the ASD and high anxious groups. Results showed that both these clinical groups scored significantly higher on the SRS than a typical control group. Discriminant validity was poor, including sensitivity of 0.65 when including all participants and 0.48 when only the two clinical groups were included. In particular, the Social Motivation subscale of the SRS-ASR failed to distinguish between ASD and anxiety groups. As recommended in the SRS-2 manual, we highlight the need for caution when using the SRS-2-ASR to support diagnostic decision making, especially in clinical settings involving anxiety, ADHD, or other concerns that can affect reciprocal social communication and/or behavioral flexibility. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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19. Uljarevic M, Baranek G, Vivanti G, Hedley D, Hudry K, Lane A. {{Heterogeneity of sensory features in autism spectrum disorder: Challenges and perspectives for future research}}. {Autism Res};2017 (Mar 07)
Pronounced heterogeneity is apparent across every facet of autism spectrum disorder (ASD) and it remains difficult to predict likely future potential among individuals who share a common diagnosis of ASD on the basis of early presentation. In this commentary we argue that a fine-grained understanding of individual differences in sensory features and their influence across the life span can constrain noted clinical heterogeneity in ASD. We organize our discussion around the following three critical themes: (a) considering sensory features as dimensional construct; (b) taking an « individual differences » approach; and (c) adopting a comprehensive, multidimensional and multimodal approach to measurement of sensory features. We conclude that future research will need to investigate individual differences in sensory features via: (1) multidimensional and cross-disciplinary examination, (2) prospective longitudinal designs, and (3) dimensional and developmental frameworks that emphasize the potential value of early individual variability as indicators of later outcomes, not only in relation to the categorical diagnostic outcome status but also the presence of other clinical features. This is a key time for sensory-related research and in this commentary we provide some of the steps that, in our opinion, can shape future research in this area. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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20. Van der Hallen R, Lemmens L, Steyaert J, Noens I, Wagemans J. {{Ensemble perception in autism spectrum disorder: Member-identification versus mean-discrimination}}. {Autism Res};2017 (Mar 07)
To efficiently represent the outside world our brain compresses sets of similar items into a summarized representation, a phenomenon known as ensemble perception. While most studies on ensemble perception investigate this perceptual mechanism in typically developing (TD) adults, more recently, researchers studying perceptual organization in individuals with autism spectrum disorder (ASD) have turned their attention toward ensemble perception. The current study is the first to investigate the use of ensemble perception for size in children with and without ASD (N = 42, 8-16 years). We administered a pair of tasks pioneered by Ariely [2001] evaluating both member-identification and mean-discrimination. In addition, we varied the distribution types of our sets to allow a more detailed evaluation of task performance. Results show that, overall, both groups performed similarly in the member-identification task, a test of « local perception, » and similarly in the mean identification task, a test of « gist perception. » However, in both tasks performance of the TD group was affected more strongly by the degree of stimulus variability in the set, than performance of the ASD group. These findings indicate that both TD children and children with ASD use ensemble statistics to represent a set of similar items, illustrating the fundamental nature of ensemble coding in visual perception. Differences in sensitivity to stimulus variability between both groups are discussed in relation to recent theories of information processing in ASD (e.g., increased sampling, decreased priors, increased precision). Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
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21. Ward J, Hoadley C, Hughes JE, Smith P, Allison C, Baron-Cohen S, Simner J. {{Atypical sensory sensitivity as a shared feature between synaesthesia and autism}}. {Sci Rep};2017 (Mar 07);7:41155.
Several studies have suggested that there is a link between synaesthesia and autism but the nature of that link remains poorly characterised. The present study considers whether atypical sensory sensitivity may be a common link between the conditions. Sensory hypersensitivity (aversion to certain sounds, touch, etc., or increased ability to make sensory discriminations) and/or hyposensitivity (desire to stimulate the senses , or a reduced response to sensory stimuli are a recently introduced diagnostic feature of autism spectrum conditions (ASC). Synaesthesia is defined by unusual sensory experiences and has also been linked to a typical cortical hyper-excitability. The Glasgow Sensory Questionnaire (GSQ) was administered to synaesthetes and people with ASC. Both groups reported increased sensory sensitivity relative to controls with a large effect size. Both groups also reported a similar pattern of both increased hyper- and hypo-sensitivities across multiple senses. The AQ (Autism-Spectrum Quotient) scores were elevated in the synaesthetes, and one subscale of this measure (attention to detail) placed synaesthetes within the autistic range. A standard laboratory test of visual stress (the Pattern Glare Test), administered online, corroborated the findings of increased sensitivity to aversive visual stimuli in synaesthetes. We conclude that atypical sensory sensitivity is an important shared feature between autism and synaesthesia.
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22. Wiggins LD, Barger B, Moody E, Soke G, Pandey J, Levy S. {{Brief Report: The ADOS Calibrated Severity Score Best Measures Autism Diagnostic Symptom Severity in Pre-School Children}}. {J Autism Dev Disord};2017 (Mar 06)
The severity of autism spectrum disorder (ASD) is often measured by co-occurring conditions, such as intellectual disability or language delay, rather than deficits in social interaction, and restricted interests and repetitive behaviors. The Autism Diagnostic Observation Schedule calibrated severity score (ADOS CSS) was created to facilitate comparison of the diagnostic features of ASD independent of related conditions over time. We examined the relationship between the ADOS CSS, ADOS total score, and clinician rated degree of impairment (DOI) in the Study to Explore Early Development. Like others, we confirmed that, among the measures we evaluated, the ADOS CSS was least influenced by developmental functioning and demographic factors and is therefore the best measure of core features of ASD in pre-school children.
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23. Zare S, Mashayekhi F, Bidabadi E. {{The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population}}. {J Clin Neurosci};2017 (Mar 08)
Autism is a heterogeneous and multifactorial disease that results from the interaction between genetic vulnerability and environmental factors. Several studies showed that many of genes that play role in autism are component of signaling networks that regulate growth and synaptic plasticity, play an important role in the etiology of autism. Contactin associated-like 2 (CNTNAP2) gene is a member of the superfamily of synaptic adhesion proteins and encodes a scaffold protein called CASPR2 that is involved in the interaction of neuron-glia and clusters K+ channels in myelinated axons. CNTNAP2 is highly expressed during the nervous system development. In this study the association of rs7794745 CNTNAP2 gene polymorphism and autism was investigated. Two hundred patients with autism and 260 healthy individuals were included in this study. Genomic DNA was extracted from peripheral blood cells. Genotypes were analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Statistical analysis was performed using the software MedCalc (12.1). The genotype frequencies of AA, AT, TT were 35.3%, 50.7% and 13.8% in controls and these values were 32% and 68% and 0% in patients with autism, respectively (P=0.0001) (OR=0.01, 95% CI 0.001-0.32). The frequency of A and T alleles were 66%, 34% in patients and 60%, 40% in controls, respectively (P=0.11). The results of this study showed that there is a significant association between rs7794745 CNTNAP2 gene polymorphism and autism in the studied population. However, to obtain a definitive conclusion larger studies with more patients and controls are needed to confirm the results.
