1. Beranova S, Stoklasa J, Dudova I, Markova D, Kasparova M, Zemankova J, Urbanek T, Talasek T, Luukka P, Hrdlicka M. {{A possible role of the Infant/Toddler Sensory Profile in screening for autism: a proof-of-concept study in the specific sample of prematurely born children with birth weights <1,500 g}}. {Neuropsychiatr Dis Treat};2017;13:191-200. OBJECTIVE: The objective of this study was to explore the potential of the Infant/Toddler Sensory Profile (ITSP) as a screening tool for autism spectrum disorders (ASD) in prematurely born children. METHODS: Parents of 157 children with birth weights <1,500 g (aged 2 years, corrected for prematurity; 88 boys, 69 girls) completed a screening battery that included the ITSP, Modified Checklist for Autism in Toddlers (M-CHAT), and the Communication and Symbolic Behavior Scales Developmental Profile Infant-Toddler Checklist (CSBS-DP-ITC). Children with known disabilities were excluded. All the children who were screened positive on any of the screening tools subsequently underwent clinical examination including the Autism Diagnostic Observation Schedule. RESULTS: We used classification trees to answer the question whether ITSP (or some of its subscales) could be combined with the M-CHAT and/or the CSBS-DP-ITC or its subscales into an effective ASD screening tool. Using the CSBS-DP-ITC, overall score, and the Sensation Seeking subscale of the ITSP, we obtained a screening tool that was able to identify all of the ASD children in our sample (confirmed by cross-validation). The proposed screening tool is scored as follows: 1) if the overall CSBS-DP-ITC value is <45.5, then the screening is positive; 2) if the overall CSBS-DP-ITC value is >/=45.5 and the z-score of the Sensation Seeking subscale of ITSP is >/=1.54, then the screening is positive; 3) otherwise, the screening is negative. CONCLUSION: The use of CSBS-DP-ITC in combination with the Sensation Seeking subscale of the ITSP improved the accuracy of autism screening in preterm children.
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2. Chiang H, Teng C. {{1372PRISK OF CANCER IN PATIENTS WITH AUTISM SPECTRUM DISORDER: A NATIONWIDE POPULATION-BASED LONGITUDINAL STUDY}}. {Ann Oncol};2014 (Sep 01);25(suppl_4):iv482.
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3. Cortelazzo A, Pietri T, De Felice C, Leoncini S, Guerranti R, Signorini C, Timperio AM, Zolla L, Ciccoli L, Hayek J. {{Proteomic analysis of the Rett syndrome experimental model mecp2Q63X mutant zebrafish}}. {J Proteomics};2017 (Feb 10);154:128-133.
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Recently, a zebrafish carrying a mecp2-null mutation has been developed with the resulting phenotypes exhibiting defective sensory and thigmotactic responses, and abnormal motor behavior reminiscent of the human disease. Here, we performed a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish. We found a total of 20 proteins differentially expressed between wild-type and mutant zebrafish, suggesting skeletal and cardiac muscle functional defects, a stunted glycolysis and depleted energy availability. This molecular evidence is directly linked to the mecp2-null zebrafish observed phenotype. In addition, we identified changes in expression of proteins critical for a proper redox balance, suggesting an enhanced oxidative stress, a phenomenon also documented in human patients and RTT murine models. The molecular alterations observed in the mecp2-null zebrafish expand our knowledge on the molecular cascade of events that lead to the RTT phenotype. BIOLOGICAL SIGNIFICANCE: We performed a proteomic study of a non-mammalian vertebrate model (zebrafish, Danio rerio) for Rett syndrome (RTT) at larval and adult stages of development. Our results reveal major protein expression changes pointing out to defects in energy metabolism, redox status imbalance, and muscle function, both skeletal and cardiac. Our molecular analysis grants the mecp2-null zebrafish as a valuable RTT model, triggering new research approaches for a better understanding of the RTT pathogenesis and phenotype expression. This non-mammalian vertebrate model of RTT strongly suggests a broad impact of Mecp2 dysfunction.
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4. Coyne P, Evans M, Karger J. {{Use of a UDL Literacy Environment by Middle School Students With Intellectual and Developmental Disabilities}}. {Intellect Dev Disabil};2017 (Feb);55(1):4-14.
Universal Design for Learning (UDL) has been shown to have benefits for students with disabilities. However, little is known about its potential to support literacy for students with intellectual and developmental disabilities (IDD). This qualitative study explored (a) to what extent students with IDD are able to use Udio, an online UDL literacy environment; and (b) how students with IDD experienced and perceived Udio. A grounded theory approach was used to analyze classroom observations, as well as teacher and student interviews. Electronic usage logs and student-produced discussions and projects were analyzed descriptively. Students independently navigated the environment and used embedded supports, including audio-assisted reading and sentence starters. In addition, findings indicate that age-relevant content, choice, and opportunities to socialize in online discussions were especially engaging for students. Further research is warranted to determine how UDL environments affect the literacy development of students with IDD.
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5. Giserman Kiss I, Feldman MS, Sheldrick RC, Carter AS. {{Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA)}}. {J Autism Dev Disord};2017 (Feb 08)
There is a critical need for evidence-based, broadband behavioral, and ASD screening measures for use in pediatric and early educational settings to ensure that young children at risk for developing social-emotional disorders and/or ASD are provided with early intervention services to optimize long-term outcomes. The BITSEA is a 42-item screener designed to identify social-emotional/behavioral problems and delays/deficits in social-emotional competence among 11-48-month-olds; 19 items describe behaviors consistent with ASD. Secondary data analysis was employed to develop cut-scores for ASD subscales using Receiver Operating Curves, discriminating children with (n = 223) and without (n = 289) ASD. Cut-scores demonstrated moderate-to-high discriminative power, sensitivity, specificity, and PPV. Findings highlight feasibility of using a broadband social-emotional competence and behavior problem screener to improve early detection of ASD.
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6. Kaluzna-Czaplinska J, Jozwik-Pruska J, Axt A. {{Chromatographic determination of harmalans in the urine of autistic children}}. {Biomed Chromatogr};2017 (Feb 09)
This paper presents a new approach to autism- a complex and still enigmatic condition. We present the results of our preliminary research which was based on the detection of the hallucinogenic substance 6- (or 10-) methoxyharmalan in the urine samples of autistic children with the use of chromatographic methods. Additionally, we aim to describe the relationship between the level of tryptophan and harmalan, and the influence of supplementation on the level of this compound. We applied HPLC-UV/Vis, HPLC-DAD and LC-MS in order to determine McIsaac’s compound in the urine samples obtained from autistic children (n = 132) and healthy individuals (n = 10). The level of tryptophan was quantified with the use of GC-MS. Our research shows the presence of the McIsaac’s compound in 110 samples of ASD children contrary to healthy children, where it was not found. No relationship between the level of tryptophan and 6-methoxyharmalan was noticed. The study shows a strong influence of melatonin supplementation on the presence of the McIsaac’s compound. We believe that the results of our research can contribute to a better understanding of autism spectrum disorders. Moreover, our findings can form the basis for other studies focused on autism, eventually making it possible to understand its etiology.
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7. Liska A, Bertero A, Gomolka R, Sabbioni M, Galbusera A, Barsotti N, Panzeri S, Scattoni ML, Pasqualetti M, Gozzi A. {{Homozygous Loss of Autism-Risk Gene CNTNAP2 Results in Reduced Local and Long-Range Prefrontal Functional Connectivity}}. {Cereb Cortex};2017 (Feb 10):1-13.
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8. Maynard TM, Manzini MC. {{Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain}}. {Neuron};2017 (Feb 08);93(3):476-479.
The ever-expanding number of genes that are mutated in autism is showing us how imbalances in fundamental cellular processes can lead to disease. A recent study by Tarlungeanu et al. (2016) identifies a form of ASD resulting from a failure of the brain to properly import amino acids.
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9. Monteiro P, Feng G. {{SHANK proteins: roles at the synapse and in autism spectrum disorder}}. {Nat Rev Neurosci};2017 (Feb 09)
Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.
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10. Mottron L. {{Should we change targets and methods of early intervention in autism, in favor of a strengths-based education?}}. {Eur Child Adolesc Psychiatry};2017 (Feb 08)
Early intensive behavioral intervention (EIBI) and its recent variant, naturalist developmental behavioral intervention (NDBI) aim to increase socialization and communication, and to decrease repetitive and challenging behaviors in preschool age autistic children. These behaviorist techniques are based on the precocity and intensity of the intervention, face-to-face interaction, errorless learning, and information fragmentation. Once considered to be « scientifically proven », the efficacy of these approaches has been called into question in the last decade due to poor-quality data, small effects, low cost-efficiency, and the evolution of ethical and societal standards. Grounded on a reappraisal of the genetic and cognitive neuroscience of autism, we question three aspects of EIBI/NDBI: their focus on prerequisites for typical socio-communicative behaviors, their lack of consideration of autistic language development and learning modes, and their negative view of repetitive behaviors and restricted interests. We propose alternative predictions for empirical validation, based on the strengths of prototypical autistic children: (a) their non-verbal intelligence should be normally distributed and within the normal range; (b) improving access to non-communicative verbal and written auditory language material should favor their subsequent speech development and
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11. Oberwelland E, Schilbach L, Barisic I, Krall SC, Vogeley K, Fink GR, Herpertz-Dahlmann B, Konrad K, Schulte-Ruther M. {{Young adolescents with autism show abnormal joint attention network: A gaze contingent fMRI study}}. {Neuroimage Clin};2017;14:112-121.
Behavioral research has revealed deficits in the development of joint attention (JA) as one of the earliest signs of autism. While the neural basis of JA has been studied predominantly in adults, we recently demonstrated a protracted development of the brain networks supporting JA in typically developing children and adolescents. The present eye-tracking/fMRI study now extends these findings to adolescents with autism. Our results show that in adolescents with autism JA is subserved by abnormal activation patterns in brain areas related to social cognition abnormalities which are at the core of ASD including the STS and TPJ, despite behavioral maturation with no behavioral differences. Furthermore, in the autism group we observed increased neural activity in a network of social and emotional processing areas during interactions with their mother. Moreover, data indicated that less severely affected individuals with autism showed higher frontal activation associated with self-initiated interactions. Taken together, this study provides first-time data of JA in children/adolescents with autism incorporating the interactive character of JA, its reciprocity and motivational aspects. The observed functional differences in adolescents ASD suggest that persistent developmental differences in the neural processes underlying JA contribute to social interaction difficulties in ASD.
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12. Polimanti R, Gelernter J. {{Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder}}. {PLoS Genet};2017 (Feb 10);13(2):e1006618.
The human brain is the outcome of innumerable evolutionary processes; the systems genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five psychiatric disorders, attention deficit hyperactivity disorder, autism spectrum disorder (ASD), bipolar disorder, major depressive disorder, and schizophrenia (SCZ), using GWAS summary statistics from the Psychiatric Genomics Consortium. Machine learning-derived scores were used to investigate two natural-selection scenarios: complete selection (loci where a selected allele reached fixation) and incomplete selection (loci where a selected allele has not yet reached fixation). ASD GWAS results positively correlated with incomplete-selection (p = 3.53*10-4). Variants with ASD GWAS p<0.1 were shown to have a 19%-increased probability to be in the top-5% for incomplete-selection score (OR = 1.19, 95%CI = 1.11-1.8, p = 9.56*10-7). Investigating the effect directions of minor alleles, we observed an enrichment for positive associations in SNPs with ASD GWAS p<0.01 and top-5% incomplete-selection score (permutation p<10-4). Considering the set of these ASD-positive-associated variants, we observed gene-expression enrichments for brain and pituitary tissues (p = 2.3*10-5 and p = 3*10-5, respectively) and 53 gene ontology (GO) enrichments, such as nervous system development (GO:0007399, p = 7.57*10-12), synapse organization (GO:0050808, p = 8.29*10-7), and axon guidance (GO:0007411, p = 1.81*10-7). Previous genetic studies demonstrated that ASD positively correlates with childhood intelligence, college completion, and years of schooling. Accordingly, we hypothesize that certain ASD risk alleles were under positive selection during human evolution due to their involvement in neurogenesis and cognitive ability. Lien vers le texte intégral (Open Access ou abonnement)
13. Schenkelberg MA, Rosenkranz RR, Milliken GA, Menear K, Dzewaltowski DA. {{Implications of Social Groups on Sedentary Behavior of Children with Autism: A Pilot Study}}. {J Autism Dev Disord};2017 (Feb 08)
This pilot study compared sedentary behavior (SB) of children with autism (ASD) to typically developing peers (TD), and evaluated the influence of social contexts within free play (FP) and organized activity settings on SB of children with ASD during an inclusive summer camp. Participants with ASD were matched with TD peers by age and gender, and a modified OSRAC-P was utilized to assess SB and social context by setting. SB did not differ by diagnosis (ASD, TD), setting, or social contexts. In FP, children with ASD spent significantly more time in SB within social contexts compared to solitary contexts. ASD-related social deficits may facilitate SB in children with ASD during summer camp FP social contexts, compared to a solitary context.
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14. Serdarevic F, Ghassabian A, van Batenburg-Eddes T, White T, Blanken LM, Jaddoe VW, Verhulst FC, Tiemeier H. {{Infant muscle tone and childhood autistic traits: A longitudinal study in the general population}}. {Autism Res};2017 (Feb 09)
In a longitudinal population-based study of 2,905 children, we investigated if infants’ neuromotor development was associated with autistic traits in childhood. Overall motor development and muscle tone were examined by trained research assistants with an adapted version of Touwen’s Neurodevelopmental Examination between ages 2 and 5 months. Tone was assessed in several positions and items were scored as normal, low, or high tone. Parents rated their children’s autistic traits with the Social Responsiveness Scale (SRS) and the Pervasive Developmental Problems (PDP) subscale of the Child Behavior Checklist at 6 years. We defined clinical PDP if scores were >98th percentile of the norm population. Diagnosis of autism spectrum disorder (ASD) was clinically confirmed in 30 children. We observed a modest association between overall neuromotor development in infants and autistic traits. Low muscle tone in infancy predicted autistic traits measured by SRS (adjusted beta = 0.05, 95% CI for B: 0.00-0.02, P = 0.01), and PDP (adjusted beta = 0.08, 95% CI for B: 0.04-0.10, P < 0.001). Similar results emerged for the association of low muscle tone and clinical PDP (adjusted OR = 1.36, 95% CI: 1.08-1.72, P = 0.01) at age 6 years. Results remained unchanged if adjusted for child intelligence. There was no association between high muscle tone and SRS or PDP. Exclusion of children with ASD diagnosis did not change the association. This large study showed a prospective association of infant muscle tone with autistic traits in childhood. Our findings suggest that early detection of low muscle tone might be a gateway to improve early diagnosis of ASD. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. Lien vers le texte intégral (Open Access ou abonnement)
15. van Schalkwyk GI, Volkmar FR, Corlett PR. {{A Predictive Coding Account of Psychotic Symptoms in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 10)
The co-occurrence of psychotic and autism spectrum disorder (ASD) symptoms represents an important clinical challenge. Here we consider this problem in the context of a computational psychiatry approach that has been applied to both conditions-predictive coding. Some symptoms of schizophrenia have been explained in terms of a failure of top-down predictions or an enhanced weighting of bottom-up prediction errors. Likewise, autism has been explained in terms of similar perturbations. We suggest that this theoretical overlap may explain overlapping symptomatology. Experimental evidence highlights meaningful distinctions and consistencies between these disorders. We hypothesize individuals with ASD may experience some degree of delusions without the presence of any additional impairment, but that hallucinations are likely indicative of a distinct process.
