1. Ahram DF, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H, Kambouris M. {{Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder}}. {Clin Case Rep};2016 (Dec);4(12):1125-1131.
Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.
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2. AlAyadhi LY, Hashmi JA, Iqbal M, Albalawi AM, Samman MI, Elamin NE, Bashir S, Basit S. {{High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families}}. {Neuroscience};2016 (Dec 17);339:561-570.
Single nucleotide polymorphisms (SNPs)-based genotyping using microarray platform is now frequently used to detect copy number variants (CNVs) in the human genome. Here, we report CNVs identified using Illumina Human Omni 2.5M oligonucleotide microarrays in 11 multiplex families with autism spectrum disorder (ASD) referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH). Of the 11 families, 22 patients with ASD (all males) and their parents, were recruited for the present study. In total, 43 individuals were genotyped with high-resolution array. Abnormal microarray results were seen in all 22 patients with ASD. A total of 17 shared CNVs were selected for further analysis. Out of these 17 CNVs, we discovered one novel CNV, previously not described, and 16 recurrent CNVs that overlap with the genomic imbalances defined in the autism database, autism chromosome rearrangement database and database of genomic variants. Recurrent CNVs include 11 common and 5 rare CNVs. All rare CNVs are duplications except a 16-kb deletion on chr2q36.3. Rare gain of copy numbers includes a 2-kb duplication on chr9q21.13, overlapping duplications of 107kb and 181kb on chrXp22.33 in 2 different families and a 10-kb duplication on chr18q21.13. A novel loss of copy number on chr3q23 was found in four ASD cases. This CNV results in deletion of intron 2 of calsyntenin 2 (CLSTN2) encoding synaptic protein calsyntenin 2. CLSTN2 is expressed exclusively in the brain, with high levels occurring in cortical gamma-aminobutyric acid (GABA)ergic interneurons and in medial temporal lobe regions. These results verify the diagnostic relevance of genome-wide small common and rare CNVs and provide further evidence of the high diagnostic yield of microarray for genetic testing in children with ASD.
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3. Carter CJ, Blizard RA. {{Autism genes are selectively targeted by environmental pollutants including pesticides, heavy metals, bisphenol A, phthalates and many others in food, cosmetics or household products}}. {Neurochem Int};2016 (Oct 27)
The increasing incidence of autism suggests a major environmental influence. Epidemiology has implicated many candidates and genetics many susceptibility genes. Gene/environment interactions in autism were analysed using 206 autism susceptibility genes (ASG’s) from the Autworks database to interrogate approximately 1 million chemical/gene interactions in the comparative toxicogenomics database. Any bias towards ASG’s was statistically determined for each chemical. Many suspect compounds identified in epidemiology, including tetrachlorodibenzodioxin, pesticides, particulate matter, benzo(a)pyrene, heavy metals, valproate, acetaminophen, SSRI’s, cocaine, bisphenol A, phthalates, polyhalogenated biphenyls, flame retardants, diesel constituents, terbutaline and oxytocin, inter alia showed a significant degree of bias towards ASG’s, as did relevant endogenous agents (retinoids, sex steroids, thyroxine, melatonin, folate, dopamine, serotonin). Numerous other suspected endocrine disruptors (over 100) selectively targeted ASG’s including paraquat, atrazine and other pesticides not yet studied in autism and many compounds used in food, cosmetics or household products, including tretinoin, soy phytoestrogens, aspartame, titanium dioxide and sodium fluoride. Autism polymorphisms influence the sensitivity to some of these chemicals and these same genes play an important role in barrier function and control of respiratory cilia sweeping particulate matter from the airways. Pesticides, heavy metals and pollutants also disrupt barrier and/or ciliary function, which is regulated by sex steroids and by bitter/sweet taste receptors. Further epidemiological studies and neurodevelopmental and behavioural research is warranted to determine the relevance of large number of suspect candidates whose addition to the environment, household, food and cosmetics might be fuelling the autism epidemic in a gene-dependent manner.
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4. Ciccarelli M, Hodges A. {{A personal digital assistant intervention reduced job coaching support hours without reducing work performance among workers with autism}}. {Aust Occup Ther J};2016 (Dec);63(6):441-442.
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5. Inga Jacome MC, Morales Chacon LM, Vera Cuesta H, Maragoto Rizo C, Whilby Santiesteban M, Ramos Hernandez L, Noris Garcia E, Gonzalez Fraguela ME, Fernandez Verdecia CI, Vegas Hurtado Y, Siniscalco D, Goncalves CA, Robinson-Agramonte ML. {{Peripheral Inflammatory Markers Contributing to Comorbidities in Autism}}. {Behav Sci (Basel)};2016 (Dec 14);6(4)
This study evaluates the contribution of peripheral biomarkers to comorbidities and clinical findings in autism. Seventeen autistic children and age-matched typically developing (AMTD), between three to nine years old were evaluated. The diagnostic followed the Diagnostic and Statistical Manual of Mental Disorders 4th Edition (DMS-IV) and the Childhood Autism Rating Scale (CARS) was applied to classify the severity. Cytokine profile was evaluated in plasma using a sandwich type ELISA. Paraclinical events included electroencephalography (EEG) record. Statistical analysis was done to explore significant differences in cytokine profile between autism and AMTD groups and respect clinical and paraclinical parameters. Significant differences were found to IL-1beta, IL-6, IL-17, IL-12p40, and IL-12p70 cytokines in individuals with autism compared with AMTD (p < 0.05). All autistic patients showed interictalepileptiform activity at EEG, however, only 37.5% suffered epilepsy. There was not a regional focalization of the abnormalities that were detectable with EEG in autistic patients with history of epilepsy. A higher IL-6 level was observed in patients without history of epilepsy with interictalepileptiform activity in the frontal brain region, p < 0.05. In conclusion, peripheral inflammatory markers might be useful as potential biomarkers to predict comorbidities in autism as well as reinforce and aid informed decision-making related to EEG findings in children with Autism spectrum disorders (ASD). Lien vers le texte intégral (Open Access ou abonnement)
6. Ishihara MK, Tamanaha AC, Perissinoto J. {{Comprehension of ambiguity for children with Specific Language Impairment and Autism Spectrum Disorder}}. {Codas};2016 (Dec 12):0.
Purpose: To verify and compare the performance of children and adolescents with Specific Language Impairment (SLI) and Autism Spectrum Disorder (ASD) using a formal, standardized test that assesses language competence, more specifically comprehension of ambiguity. Methods: The sample comprised 19 individuals aged 6 to 14 years, of both genders, divided into two groups: ASD Group (9) and SLI Group (10). Participants were assessed using the Test of Language Competence – TLC; Ambiguous Sentences subtest (Wiig, Secord, 1989). Analysis included the comparison of the total scores in both groups. Results: We found significant difference between the groups, with better performance of the SLI Group compared with that of the ASD Group. Conclusion: It was possible to analyze and compare the performance of both groups in a metalinguistic activity. We observed better performance of the SLI group compared with that of the ASD Group in the interpretation of ambiguous information.
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7. Kwan V, Unda BK, Singh KK. {{Wnt signaling networks in autism spectrum disorder and intellectual disability}}. {J Neurodev Disord};2016;8:45.
BACKGROUND: Genetic factors play a major role in the risk for neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying genetic factors have become better understood in recent years due to advancements in next generation sequencing. These studies have uncovered a vast number of genes that are impacted by different types of mutations (e.g., de novo, missense, truncation, copy number variations). ABSTRACT: Given the large volume of genetic data, analyzing each gene on its own is not a feasible approach and will take years to complete, let alone attempt to use the information to develop novel therapeutics. To make sense of independent genomic data, one approach is to determine whether multiple risk genes function in common signaling pathways that identify signaling « hubs » where risk genes converge. This approach has led to multiple pathways being implicated, such as synaptic signaling, chromatin remodeling, alternative splicing, and protein translation, among many others. In this review, we analyze recent and historical evidence indicating that multiple risk genes, including genes denoted as high-confidence and likely causal, are part of the Wingless (Wnt signaling) pathway. In the brain, Wnt signaling is an evolutionarily conserved pathway that plays an instrumental role in developing neural circuits and adult brain function. CONCLUSIONS: We will also review evidence that pharmacological therapies and genetic mouse models further identify abnormal Wnt signaling, particularly at the synapse, as being disrupted in ASDs and contributing to disease pathology.
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8. Larson FV, Wagner AP, Jones PB, Tantam D, Lai MC, Baron-Cohen S, Holland AJ. {{Psychosis in autism: comparison of the features of both conditions in a dually affected cohort}}. {Br J Psychiatry};2016 (Dec 15)
BACKGROUND: There is limited information on the presentation and characteristics of psychotic illness experienced by people with autism spectrum disorder (ASD). AIMS: To describe autistic and psychotic phenomenology in a group of individuals with comorbid ASD and psychosis (ASD-P) and compare this group with populations affected by either, alone. METHOD: We studied 116 individuals with ASD-P. We compared features of their ASD with people with ASD and no comorbid psychosis (ASD-NP), and clinical characteristics of psychosis in ASD-P with people with psychosis only. RESULTS: Individuals with ASD-P had more diagnoses of atypical psychosis and fewer of schizophrenia compared with individuals with psychosis only. People with ASD-P had fewer stereotyped interests/behaviours compared with those with ASD-NP. CONCLUSIONS: Our data show there may be a specific subtype of ASD linked to comorbid psychosis. The results support findings that psychosis in people with ASD is often atypical, particularly regarding affective disturbance.
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9. Liu T, Chen Y, Chen D, Li C, Qiu Y, Wang J. {{Altered electroencephalogram complexity in autistic children shown by the multiscale entropy approach}}. {Neuroreport};2016 (Dec 15)
Autism spectrum disorder (ASD) is a severe neurodevelopment disorder. This study tests the hypothesis that children with ASD show atypical intrinsic complexity of brain activity. Electroencephalogram data were collected from boys with ASD and matching normal typically developing children while performing an observation and an imitation task. The multiscale entropy was estimated within the 0.5-30 Hz frequency band over 30 time scales using a coarse-grained procedure. A decreased electroencephalogram complexity was observed in the ASD children both during the observation and during the imitation tasks. On comparing the two tasks, significant differences were observed between groups in the right hemisphere, and also the central cortex for the observation task. Multiscale entropy could provide further evidence of the relationship between ASD and cerebral dysfunction.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/.
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10. Morales-Suarez-Varela M, Peraita-Costa I, Llopis-Gonzalez A. {{Systematic review of the association between particulate matter exposure and autism spectrum disorders}}. {Environ Res};2016 (Dec 13);153:150-160.
Particulate matter (PM) as an environmental pollutant is suspected to be associated with autism spectrum disorders. The aim of the present study was to review the epidemiological literature currently available on the relation between PM exposure and diagnosis of ASD. The PubMed database was searched from November 2015 up to January 2016 by one of the authors. We included observational studies (cohort and case-control studies) published in English carried out in children within the last 10 years, measuring PM exposure and health outcomes related to ASD. 13 studies met the inclusion criteria. Four of the studies found no association between PM exposure and ASD. The other 8 studies show positive associations restricted to specific exposure windows which however do not reach statistical significance at times. To conclude, the evidence from the studies allows us to conclude that there is an association between PM exposure and ASD whose strength varies according to the particle size studied with the association with PM2.5 and diesel PM being stronger. Given the potential importance for public health, cohort studies with proper adjustment for confounding variables and identification of critical windows of exposure are urgently needed to further improve knowledge about potential causal links between PM exposure and the development of ASD.
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11. Quesnel-Vallieres M, Dargaei Z, Irimia M, Gonatopoulos-Pournatzis T, Ip JY, Wu M, Sterne-Weiler T, Nakagawa S, Woodin MA, Blencowe BJ, Cordes SP. {{Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders}}. {Mol Cell};2016 (Dec 15);64(6):1023-1034.
A key challenge in understanding and ultimately treating autism is to identify common molecular mechanisms underlying this genetically heterogeneous disorder. Transcriptomic profiling of autistic brains has revealed correlated misregulation of the neuronal splicing regulator nSR100/SRRM4 and its target microexon splicing program in more than one-third of analyzed individuals. To investigate whether nSR100 misregulation is causally linked to autism, we generated mutant mice with reduced levels of this protein and its target splicing program. Remarkably, these mice display multiple autistic-like features, including altered social behaviors, synaptic density, and signaling. Moreover, increased neuronal activity, which is often associated with autism, results in a rapid decrease in nSR100 and splicing of microexons that significantly overlap those misregulated in autistic brains. Collectively, our results provide evidence that misregulation of an nSR100-dependent splicing network controlled by changes in neuronal activity is causally linked to a substantial fraction of autism cases.
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12. Rudra A, Ram JR, Loucas T, Belmonte MK, Chakrabarti B. {{Bengali translation and characterisation of four cognitive and trait measures for autism spectrum conditions in India}}. {Mol Autism};2016;7:50.
BACKGROUND: Autism is characterised by atypical social-communicative behaviour and restricted range of interests and repetitive behaviours. These features exist in a continuum in the general population. Behavioural measures validated across cultures and languages are required to quantify the dimensional traits of autism in these social and non-social domains. Bengali is the seventh most spoken language in the world. However, there is a serious dearth of data on standard measures of autism-related social and visual cognition in Bengali. METHODS: Bengali translations of two measures related to social-communicative functioning (the Children’s Reading the Mind in the Eyes Test (RMET) and a facial emotion recognition test with stimuli taken from the Karolinska Directed Emotional Faces database), one measure of visual perceptual disembedding (the Embedded Figures Test), and a questionnaire measure (the Children’s Empathy Quotient) were tested in 25 children with autism spectrum conditions (ASC) and 26 control children (mean age = 10.7 years) in Kolkata, India. Group differences were analysed by t test and multiple regression (after accounting for potential effects of gender, IQ, and age). RESULTS: Behavioural and trait measures were associated with group differences in the expected directions: ASC children scored lower on the Children’s Empathy Quotient and the RMET, as well as on facial emotion recognition, but were faster and more accurate on the Embedded Figures Test. Distributional properties of these measures within groups are similar to those reported in Western countries. CONCLUSIONS: These results provide an empirical demonstration of cross-cultural generalisability and applicability of these standard behavioural and trait measures related to autism, in a major world language.
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13. Strunk D, Weber P, Rothlisberger B, Filges I. {{Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?}}. {Mol Cytogenet};2016;9:88.
BACKGROUND: Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism. CASE PRESENTATION: We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of two de novo microdeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, including FBXL4, POU3F2, PRDM13, CCNC, COQ3 and GRIK2. We compared phenotypes of patients with similar deletions and looked at the involvement of the genes in neuronal networks in order to determine the pathogenicity of our patient’s deletions. CONCLUSIONS: We suggest that both deletions on 6q are causing his disease phenotype since they harbour several genes which are implicated in pathways of neuronal development and function. Further studies regarding the interaction between PRDM13 and GRIK2 specifically may be interesting.
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14. Tchaconas A, Adesman A. {{Diagnostic Evaluation of Children with Autism Spectrum Disorders: Clinician Compliance with Published Guidelines}}. {J Dev Behav Pediatr};2016 (Dec 15)
OBJECTIVE: To assess to what extent child neurologists (CNs) and developmental-behavioral pediatricians (DBPs) order diagnostic tests that are not recommended/indicated and/or fail to order tests that are recommended/indicated when evaluating children with an autism spectrum disorder (ASD). METHOD: CNs and DBPs in the United States were asked which laboratory tests they would « routinely order » for a preschool child with ASD and IQ = 58 (ASD + Intellectual Disability (ID)), and a preschool child with ASD and IQ = 85 (ASD-ID). Chi-square tests were performed to identify differences (CNs vs DBPs) in laboratory testing. RESULTS: The sample consisted of 267 respondents (127 CN’s; 140 DBPs). When evaluating ASD + ID or ASD – ID, inappropriate tests (>/=1) were ordered by 76.8% and 76.4% of MDs, respectively. There was no significant difference between specialties in compliance with evaluation guidelines for ASD + ID (CN = 20.5% vs DBP = 16.4%; chi = 0.73). No significant differences were noted (DBP vs CN) regarding the percent ordering inappropriate tests for either clinical case or within each specialty when comparing testing for ASD + ID versus ASD – ID. Relative to DBPs, CNs were more likely to order EEGs and MRIs when evaluating children with ASD + ID or ASD – ID. 10% and 40% of respondents did not order any recommended genetic tests when evaluating ASD + ID and ASD – ID, respectively. CONCLUSION: When evaluating children with ASD, many CNs and DBPs fail to order tests that should be routinely performed and often order tests that are not routinely indicated yet are neither benign nor inexpensive. Recommended molecular genetic tests are often not ordered. Clinical guidelines must be updated and better promulgated.
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15. Thomaidis L, Choleva A, Kyprianou M. {{Age-related issues of instruments screening for autism in young children}}. {Neuropsychiatr Dis Treat};2016;12:3093-3095.
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16. Valencia-Naranjo N, Robles-Bello MA. {{Learning potential and cognitive abilities in preschool boys with fragile X and Down syndrome}}. {Res Dev Disabil};2016 (Dec 13);60:153-161.
BACKGROUND: Enhancing cognitive abilities is relevant when devising treatment plans. AIMS: This study examined the performance of preschool boys with Down syndrome and fragile X syndrome in cognitive tasks (e.g., nonverbal reasoning and short-term memory), as well as in improving cognitive functions by means of a learning potential methodology. METHODS AND PROCEDURES: The basic scales corresponding to the Skills and Learning Potential Preschool Scale were administered to children with Down syndrome and others with fragile X syndrome, matched for chronological age and nonverbal cognitive development level. RESULTS: The fragile X syndrome group showed stronger performance on short-term memory tasks than the Down syndrome group prior to intervention, with no differences recorded in nonverbal reasoning tasks. In addition, both groups’ cognitive performance improved significantly between pre- and post-intervention. However, learning potential relative to auditory memory was limited in both groups, and for rule-based categorization in Down syndrome children. CONCLUSION: The scale offered the opportunity to assess young children’s abilities and identify the degree of cognitive modifiability. Furthermore, factors that may potentially affect the children’s performance before and during learning potential assessment are discussed.
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17. Yang Y, Tian Y, Fang J, Lu H, Wei K, Yi L. {{Trust and Deception in Children with Autism Spectrum Disorders: A Social Learning Perspective}}. {J Autism Dev Disord};2016 (Dec 16)
Previous research has demonstrated abnormal trust and deception behaviors in children with Autism Spectrum Disorders (ASD), and we aimed to examine whether these abnormalities were primarily due to their specific deficits in social learning. We tested 42 high-functioning children with ASD and 38 age- and ability-matched typically developing (TD) children in trust and deception tasks and a novel condition with reduced social components. Results indicated that while TD children improved their performance with more social components, children with ASD lacked this additional performance gain, though they performed similarly as TD children in the condition with reduced social components. Our findings highlight that deficits of ASD in trust and deception are primarily associated with failure of use of social cues.
