1. Anwar A, Marini M, Abruzzo PM, Bolotta A, Ghezzo A, Visconti P, Thornalley PJ, Rabbani N. {{Quantitation of plasma thiamine, related metabolites and plasma protein oxidative damage markers in children with autism spectrum disorder and healthy controls}}. {Free Radic Res};2016 (Nov 2):1-6.
AIMS/HYPOTHESIS: To assess thiamine and related metabolite status by analysis of plasma and urine in autistic children and healthy controls, correlations to clinical characteristics and link to plasma protein markers of oxidative damage. METHODS: 27 children with autism (21 males and 6 females) and 21 (15 males and 6 females) age-matched healthy control children were recruited. The concentration of thiamine and related phosphorylated metabolites in plasma and urine and plasma protein content of dityrosine, N-formylkynurenine and 3-nitrotyrosine was determined. RESULTS: Plasma thiamine and thiamine monophosphate concentrations were similar in both study groups (median [lower-upper quartile]): autistic children – 6.60 nM (4.48-8.91) and 7.00 nM (5.51-8.55), and healthy controls – 6.82 nM (4.47-7.02) and 6.82 nM (5.84-8.91), respectively. Thiamine pyrophosphate (TPP) was decreased 24% in autistic children compared to healthy controls: 6.82 nM (5.81-8.52) versus 9.00 nM (8.41-10.71), p < .01. Urinary excretion of thiamine and fractional renal clearance of thiamine did not change between the groups. No correlation was observed between clinical markers and the plasma and urine thiamine concentration. Plasma protein dityrosine content was increased 88% in ASD. Other oxidative markers were unchanged. CONCLUSIONS/INTERPRETATION: Autistic children had normal plasma and urinary thiamine levels whereas plasma TPP concentration was decreased. The latter may be linked to abnormal tissue handling and/or absorption from gut microbiota of TPP which warrants further investigation. Increased plasma protein dityrosine may reflect increased dual oxidase activity in response to change in mucosal immunity and host-microbe homeostasis. Lien vers le texte intégral (Open Access ou abonnement)
2. Beggiato A, Peyre H, Maruani A, Scheid I, Rastam M, Amsellem F, Gillberg CI, Leboyer M, Bourgeron T, Gillberg C, Delorme R. {{Gender differences in autism spectrum disorders: Divergence among specific core symptoms}}. {Autism Res};2016 (Nov 3)
Community-based studies have consistently shown a sex ratio heavily skewed towards males in autism spectrum disorders (ASD). The factors underlying this predominance of males are largely unknown, but the way girls score on standardized categorical diagnostic tools might account for the underrecognition of ASD in girls. Despite the existence of different norms for boys and girls with ASD on several major screening tests, the algorithm of the Autism Diagnosis Interview-Revised (ADI-R) has not been reformulated. The aim of our study was to investigate which ADI-R items discriminate between males and females, and to evaluate their weighting in the final diagnosis of autism. We then conducted discriminant analysis (DA) on a sample of 594 probands including 129 females with ASD, recruited by the Paris Autism Research International Sibpair (PARIS) Study. A replication analysis was run on an independent sample of 1716 probands including 338 females with ASD, recruited through the Autism Genetics Resource Exchange (AGRE) program. Entering the raw scores for all ADI-R items as independent variables, the DA correctly classified 78.9% of males and 72.9% of females (P < 0.001) in the PARIS cohort, and 72.2% of males and 68.3% of females (P < 0.0001) in the AGRE cohort. Among the items extracted by the stepwise DA, four belonged to the ADI-R algorithm used for the final diagnosis of ASD. In conclusion, several items of the ADI-R that are taken into account in the diagnosis of autism significantly differentiates between males and females. The potential gender bias thus induced may participate in the underestimation of the prevalence of ASD in females. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
3. Bjorkman B, Gimbler Berglund I, Enskar K, Faresjo M, Huus K. {{Peri-radiographic guidelines for children with autism spectrum disorder: a nationwide survey in Sweden}}. {Child Care Health Dev};2016 (Nov 2)
OBJECTIVE: This study aimed to investigate the prevalence of guidelines and routines used nationwide when children with autism spectrum disorder (ASD) are taken care of and examined in a radiology department during a peri-radiographic process. METHOD: A nationwide survey was compiled and distributed to 94 radiology departments throughout Sweden, i.e. those performing more than 100 000 radiographic examinations annually. The survey was designed as a web questionnaire with seven questions on possible guidelines and/or routines for the departments when preparing and taking care of children with ASD in conjunction with a radiographic procedure. The data were scrutinized, using descriptive statistics. RESULTS: In total, 86 radiology departments responded to the survey (response rate 92%). Of those departments, 40 did not examine children with ASD. None of the departments included in the study had existing guidelines underpinning the routines when preparing and performing radiographic examinations for children diagnosed with ASD. A few departments (n = 8) would set aside more time for the procedure if it were known in advance that the child to be examined had been diagnosed with ASD. Also, some departments (n = 7) had radiographers who were more experienced in the care of children who would be appointed to perform examinations for children with ASD. CONCLUSION: It is suggested that guidelines should be developed in order to increase interaction in a supportive way and decrease anxiety during the peri-radiographic process with children with ASD.
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4. Bock I, Nemeth K, Pentelenyi K, Balicza P, Balazs A, Molnar MJ, Roman V, Nagy J, Levay G, Kobolak J, Dinnyes A. {{Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance}}. {Gene};2016 (Dec 31);595(2):131-141.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with unknown genetic and environmental causation in most of the affected individuals. On the other hand, there are a growing number of ASD-associated syndromes, where the exact genetic origin can be revealed. Here we report a method, which included the targeted next generation sequencing (NGS) and filtering of 101 ASD associated genes, followed by database search. Next, RNA sequencing was used to study the region of interest at the transcriptional level. Using this workflow, we identified a de novo mutation in the euchromatic histone-lysine N-methyltransferase 1 gene (EHMT1) of an autistic patient with dysmorphisms. Sequencing of EHMT1 transcripts showed that the premature termination codon (Trp1138Ter) created by a single nucleotide change elicited nonsense-mediated mRNA decay, which led to haploinsufficiency already at the transcriptional level. Database and literature search provided evidence that this mutation caused Kleefstra syndrome (KS), which was confirmed by the presence of the disorder-specific phenotype in the patient. We provide a proof of principle that the implemented method is capable to elucidate the genetic etiology of individuals with syndromic autism. The novel mutation detected in the EHMT1 gene is responsible for KS’s symptoms. In addition, further genetic factors might be involved in the ASD pathogenesis of the patient including a missense DPP6 mutation (Arg322Cys), which segregated with the autistic phenotype within the family.
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5. Branigan HP, Tosi A, Gillespie-Smith K. {{Spontaneous lexical alignment in children with an autistic spectrum disorder and their typically developing peers}}. {J Exp Psychol Learn Mem Cogn};2016 (Nov);42(11):1821-1831.
It is well established that adults converge on common referring expressions in dialogue, and that such lexical alignment is important for successful and rewarding communication. The authors show that children with an autistic spectrum disorder (ASD) and chronological- and verbal-age-matched typically developing (TD) children also show spontaneous lexical alignment. In a card game, both groups tended to refer to an object using the same name as their partner had previously used for the same or a different token of the object. This tendency to align on a pragmatically conditioned aspect of language did not differ between ASD and TD groups, and was unaffected by verbal/chronological age, or (in the ASD group) Theory of Mind or social functioning. The authors suggest that lexical priming can lead to automatic lexical alignment in both ASD and TD children’s dialogue. Their results further suggest that ASD children’s conversational impairments do not involve an all-encompassing deficit in linguistic imitation. (PsycINFO Database Record
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6. Chang YC, Locke J. {{A systematic review of peer-mediated interventions for children with autism spectrum disorder}}. {Res Autism Spectr Disord};2016 (Jul);27:1-10.
BACKGROUND: Peer mediated intervention (PMI) is a promising practice used to increase social skills in children with autism spectrum disorder (ASD). PMIs engage typically developing peers as social models to improve social initiations, responses, and interactions. METHOD: The current study is a systematic review examining PMIs for children and adolescents with ASD conducted using group designs. Five studies met the pre-specified review inclusion criteria: four randomized controlled trials and one pre- and post-test design. RESULTS: Four of the studies were conducted in school settings, whereas one study was conducted in a camp setting. The studies all reported that participants improved in social skills (e.g., social initiations, social responses, social communication) post intervention. Additionally, sustainment, generalization, and fidelity of implementation were examined. CONCLUSION: PMI is a promising approach to address social skills in children with ASD, and this approach can be conducted in meaningful real-word contexts, such as schools. Limitations of the studies as well as future directions are discussed.
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7. Chericoni N, de Brito Wanderley D, Costanzo V, Diniz-Goncalves A, Leitgel Gille M, Parlato E, Cohen D, Apicella F, Calderoni S, Muratori F. {{Pre-linguistic Vocal Trajectories at 6-18 Months of Age As Early Markers of Autism}}. {Front Psychol};2016;7:1595.
This study explores pre-linguistic vocal trajectories in infants with autism spectrum disorder (ASD) during caregiver-infant interaction. Home videos were obtained from 10 infants with ASD and 10 typically developing infants (TD), covering three time periods: 0-6 months (T1, 47 video sequences), 6-12 months (T2, 47 video sequences), and 12-18 months (T3, 48 video sequences). In total 142 video sequences were analyzed. Vocalizations, long reduplicated babbling, 2-syllable babbling, and first words were investigated longitudinally. Face-gazing was also analyzed, to evaluate the social quality of vocal behaviors. Results show a lower rate of vocalizations in the ASD group at T2, and a lower rate of first words at T3, compared to the TD group. However, the prevalence of non-social babbling, appeared higher in the ASD group. The implications of these findings for screening programs are discussed.
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8. Gev T, Rosenan R, Golan O. {{Unique effects of The transporters animated series and of parental support on emotion recognition skills of children with ASD: Results of a randomized controlled trial}}. {Autism Res};2016 (Nov 3)
Emotion recognition (ER) and understanding deficits are characteristic of autism spectrum disorder (ASD). The Transporters (TT) animated series has shown promising results in teaching children with ASD to recognize emotions, with mixed findings about generalization and maintenance of effects. This study aimed to evaluate the unique role of TT and of parental support in the acquisition, generalization, and maintenance of acquired ER skills in children with ASD. 77 Israeli children with high functioning ASD, aged 4-7 were randomly assigned into four groups according to a 2 x 2 design of the factors Series (TT, control series) and Parental Support (with/without). Thirty typically developing children, matched to the ASD groups on mental age, were tested with no intervention. Participants’ ER (on three generalization levels) and emotional vocabulary (EV) were tested pre and post 8 weeks of intervention, and at 3 months’ follow-up. Compared to the control series, watching TT significantly improved children’s ER skills at all generalization levels, with good skill maintenance. All groups improved equally on EV. The amount of parental support given, in the groups that had received it, contributed to the generalization and maintenance of ER skills. Autism severity negatively correlated with ER improvement. The current study provides evidence to the unique role of TT in ER skill acquisition, generalization, and maintenance in children with high functioning ASD. In addition, this study provides evidence for a successful cultural adaptation of TT to a non-English speaking culture. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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9. Ghalichi F, Ghaemmaghami J, Malek A, Ostadrahimi A. {{Effect of gluten free diet on gastrointestinal and behavioral indices for children with autism spectrum disorders: a randomized clinical trial}}. {World J Pediatr};2016 (Nov);12(4):436-442.
BACKGROUND: Genetic and environmental factors are both responsible for the etiology of autism spectrum disorders (ASD). Although epidemiological studies have been conducted to clarify the association between restriction diets and ASD, the conclusion remains unclear. This study was undertaken to investigate the effect of gluten free diet (GFD) on gastrointestinal symptoms and behavioral indices in children with ASD. METHODS: In this randomized clinical trial, 80 children diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) were assigned into GFD (n=40) and regular diet (RD) (n=40) groups for 6 weeks. At the beginning and end of the intervention, the ROME capital SHA, Cyrillic questionnaire for evaluating gastrointestinal symptoms and Gilliam Autism Rating Scale 2 questionnaire (GARS-2) for assessing psychometric properties were completed. RESULTS: Of the 80 children, 53.9% had gastrointestinal abnormalities. In the GFD group, the prevalence of gastrointestinal symptoms decreased significantly (P<0.05) after intake of GFD (40.57% vs. 17.10%) but increased insignificantly in the RD group (42.45% vs. 44.05%). GFD intervention resulted in a significant decrease in behavioral disorders (80.03+/-14.07 vs. 75.82+/-15.37, P<0.05) but an insignificant increase in the RD group (79.92+/-15.49 vs. 80.92+/-16.24). CONCLUSION: This study suggested that GFD may be effective in controlling gastrointestinal symptoms and ASD behaviors. Lien vers le texte intégral (Open Access ou abonnement)
10. Leaf JB, Leaf JA, Milne C, Taubman M, Oppenheim-Leaf M, Torres N, Townley-Cochran D, Leaf R, McEachin J, Yoder P. {{An Evaluation of a Behaviorally Based Social Skills Group for Individuals Diagnosed with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov 2)
In this study we evaluated a social skills group which employed a progressive applied behavior analysis model for individuals diagnosed with autism spectrum disorder. A randomized control trial was utilized; eight participants were randomly assigned to a treatment group and seven participants were randomly assigned to a waitlist control group. The social skills group consisted of 32, 2 h sessions. Teachers implemented a variety of behaviorally based procedures. A blind evaluator measured participants’ behavior immediately prior to intervention, immediately following intervention, and during 16 and 32-week maintenance probes. Results of the study demonstrated that participants made significant improvements with their social behavior (p < .001) following intervention, and the results were maintained up to 32 weeks after intervention had concluded. Lien vers le texte intégral (Open Access ou abonnement)
11. Malkki H. {{Neurodevelopmental disorders: Maternal antibodies induce autism-like phenotype in mice}}. {Nat Rev Neurol};2016 (Oct 21)
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12. Miller KM, Xing G, Walker CK. {{Meconium exposure and autism risk}}. {J Perinatol};2016 (Nov 03)
OBJECTIVE: This study aims to determine whether fetal meconium passage is associated with autism. STUDY DESIGN: This retrospective birth cohort analysis of 9 945 896 children born in California 1991 to 2008 linked discharge diagnosis and procedure codes for prenatal stressors, meconium-stained amniotic fluid (MSAF) and meconium aspiration syndrome (MAS) with autism diagnoses for 47 277 children through 2012. We assessed the relative risk of autism by meconium status using logistic regression, adjusting for demographic and clinical features. RESULTS: Children exposed to meconium (MSAF and MAS) were more likely to be diagnosed with autism in comparison with unexposed children (0.60% and 0.52%, vs 0.47%, respectively). In adjusted analyses, there was a small increase in autism risk associated with MSAF exposure (adjusted relative risk (aRR) 1.18, 95% confidence interval (CI) 1.12 to 1.25), and a marginal association that failed to achieve significance between MAS and autism (aRR 1.08, 95% CI 0.98 to 1.20). CONCLUSION: Resuscitation of neonates with respiratory compromise from in utero meconium exposure may mitigate long-term neurodevelopmental damage.Journal of Perinatology advance online publication, 3 November 2016; doi:10.1038/jp.2016.200.
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13. Park HR, Kim IH, Kang H, Lee DS, Kim BN, Kim DG, Paek SH. {{Nucleus accumbens deep brain stimulation for a patient with self-injurious behavior and autism spectrum disorder: functional and structural changes of the brain: report of a case and review of literature}}. {Acta Neurochir (Wien)};2016 (Nov 3)
The aim of this report was to investigate the clinical outcome of deep brain stimulation (DBS) for autism spectrum disorder (ASD) and the functional and structural changes in the brain after DBS. We present a 14-year-old boy with ASD and self-injurious behavior (SIB) refractory with medical and behavioral therapy. He was treated by bilateral nucleus accumbens (NAc) DBS. Remarkable clinical improvement was observed following NAc DBS. Brain fluorodeoxyglucose-positron emission tomography (FDG-PET) and magnetic resonance imaging (MRI) volumetric studies revealed that the metabolism in the prefrontal and the frontal cortex as well as the occipital cortex was markedly decreased in association with the decreased cortical volumes in those areas 2 years after NAc DBS. The therapeutic potential of NAc DBS is suggested for the clinical improvement of patients with ASD and SIB with structural and functional changes after DBS.
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14. Rigles B. {{The Relationship Between Adverse Childhood Events, Resiliency and Health Among Children with Autism}}. {J Autism Dev Disord};2016 (Nov 2)
Previous research has shown a negative relationship between adverse childhood events (ACEs) and health and resiliency among the general population, but has not examined these associations among children with autism. Purpose To determine the prevalence of ACEs among children with autism and how ACEs are associated with resiliency and health. Methods A quantitative analysis was conducted using data from the 2011-2012 National Survey of Children’s Health. Results Children with autism experience significantly more ACEs than their peers, which is negatively associated with their health. However, resiliency is not significantly associated with ACEs in this population. ACEs disproportionately affect children with autism, which is negatively associated with health, but not resiliency. Further investigation into why children with autism experience more ACEs but maintain resiliency is warranted.
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15. Wei H, Ma Y, Ding C, Jin G, Liu J, Chang Q, Hu F, Yu L. {{Reduced Glutamate Release in Adult BTBR Mouse Model of Autism Spectrum Disorder}}. {Neurochem Res};2016 (Nov);41(11):3129-3137.
Autism spectrum disorder (ASD) is a developmental disorder characterized by impairments in social and communication abilities, as well as by restricted and repetitive behaviors. The BTBR T + Itpr3 tf (BTBR) mice have emerged as a well characterized and widely used mouse model of a range of ASD-like phenotype, showing deficiencies in social behaviors and unusual ultrasonic vocalizations as well as increased repetitive self-grooming. However, the inherited neurobiological changes that lead to ASD-like behaviors in these mice are incompletely known and still under active investigation. The aim of this study was to further evaluate the structure and neurotransmitter release of the glutamatergic synapse in BTBR mice. C57BL/6J (B6) mice were used as a control strain because of their high level of sociability. The important results showed that the evoked glutamate release in the cerebral cortex of BTBR mice was significantly lower than in B6 mice. And the level of vesicle docking-related protein Syntaxin-1A was reduced in BTBR mice. However, no significant changes were observed in the number of glutamatergic synapse, level of synaptic proteins, density of dendritic spine and postsynaptic density between BTBR mice and B6 mice. Overall, our results suggest that abnormal vesicular glutamate activity may underlie the ASD relevant pathology in the BTBR mice.
