1. Adams R, Taylor J, Duncan A, Bishop S. {{Erratum to: Peer Victimization and Educational Outcomes in Mainstreamed Adolescents with Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2016 (Nov);46(11):3567-3569.
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2. Adams R, Taylor J, Duncan A, Bishop S. {{Peer Victimization and Educational Outcomes in Mainstreamed Adolescents with Autism Spectrum Disorder (ASD)}}. {J Autism Dev Disord};2016 (Nov);46(11):3557-3566.
The majority of adolescents with ASD spend a significant amount of the school day in general education settings; yet, many of these students exhibit problems at school. The current manuscript examined whether specific types of peer victimization were associated with a range of educational outcomes. Participants from study 1 included parents of 1221 adolescents from the Interactive Autism Network. Study 2 included 54 adolescent males and one of their parents that were recruited from a clinic registry. Both studies found that all types of victimization were associated with educational outcomes. These findings indicate that, in addition to improving overall well-being of students with ASD, reducing peer victimization could have positive effects on educational performance of these students.
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3. Brennan L, Fein D, Como A, Rathwell IC, Chen CM. {{Use of the Modified Checklist for Autism, Revised with Follow Up-Albanian to Screen for ASD in Albania}}. {J Autism Dev Disord};2016 (Nov);46(11):3392-3407.
The Modified Checklist for Autism in Toddlers Revised-Albanian screener (M-CHAT-R-A) was used to screen 2594 toddlers, aged 16-30 months, at well-child visits. Two hundred fifty-three (9.75 %) screened positive; follow up on failed items were conducted by phone with 127 (50 %); the remainder were lost to follow-up. Twenty-six toddlers (21 %) continued to screen positive; 19 received full evaluations, which assessed for ASD with the Autism Diagnostic Observation Schedule and developmental delays with the Parents Assessment of Developmental Status-Developmental Milestones. All evaluated children had significant delays; 17 of the 19 met criteria for Autism/ASD. Removal of three items improved performance. Although Albania and the US are quite different in culture and language, key features of ASD appeared very similar.
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4. Deckers A, Muris P, Roelofs J, Arntz A. {{A Group-Administered social Skills Training for 8- to 12- Year-Old, high-Functioning Children With Autism Spectrum Disorders: An Evaluation of its Effectiveness in a Naturalistic Outpatient Treatment Setting}}. {J Autism Dev Disord};2016 (Nov);46(11):3493-3504.
A social skills training (SST) for high-functioning children with autism spectrum disorders (ASD) was evaluated in an outpatient setting using a combined between- and within-subject design in which SST and a waiting list condition were compared. According to parents and teachers, the SST produced greater improvement of social skills than the waiting list, and these effects were maintained at 3 months follow-up. No between-group effects were found for loneliness, although in general scores on this outcome measure decreased from pre- to follow-up. The effects of SST were unaffected by social anxiety, ADHD symptoms, Theory of Mind, or desire for social interaction. Altogether, SST seems an effective intervention for high-functioning children with ASD that can be applied in daily clinical practice.
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5. Denman K, Smart C, Dallos R, Levett P. {{How Families Make Sense of Their Child’s Behaviour When on an Autism Assessment and Diagnosis Waiting List}}. {J Autism Dev Disord};2016 (Nov);46(11):3408-3423.
Families waiting for an Autism Spectrum Condition assessment often experience difficulties explaining, or making sense of, the referred young person’s behaviour. Little is known about this sense making, or how clinicians might support this ambiguity. This paper explored finite details of how five families do ‘sense-making’ in conversations with each other, while on the waiting list for an ASC assessment. A Discursive Psychology analysis of these conversations found that sense making was affected by (1) an interactional pattern of interruptions impeding the progress of sense making narratives; (2) face saving to maintain positive identities and shared understanding; and (3) difficulties in word finding within sense making narratives. These practices challenged the production of a coherent family sense making narrative.
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6. Ekhlaspour L, Baskaran C, Campoverde KJ, Sokoloff NC, Neumeyer AM, Misra M. {{Bone Density in Adolescents and Young Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord};2016 (Nov);46(11):3387-3391.
Patients with autism spectrum disorder (ASD) are at increased risk for fracture, and peri-pubertal boys with ASD have lower bone mineral density (BMD) than controls. Data are lacking regarding BMD in older adolescents with ASD. We compared BMD using dual-energy X-ray absorptiometry in 9 adolescents/young adults with ASD against 9 typically developing matched controls. Patients with ASD and controls were excluded if they had other underlying conditions that may affect bone. Compared to controls, patients with ASD had (i) lower femoral neck and hip BMD Z-scores, and (ii) lower spine, femoral neck and hip height adjusted BMD Z-scores even after controlling for BMI. Understanding the underlying pathophysiology will be key to developing therapies to improve BMD and reduce fracture risk.
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7. Endres D, Dersch R, Stich O, Buchwald A, Perlov E, Feige B, Maier S, Riedel A, van Elst LT. {{Vitamin D Deficiency in Adult Patients with Schizophreniform and Autism Spectrum Syndromes: A One-Year Cohort Study at a German Tertiary Care Hospital}}. {Front Psychiatry};2016;7:168.
INTRODUCTION: Vitamin D has many immunomodulatory, anti-inflammatory, and neuroprotective functions, and previous studies have demonstrated an association between vitamin D deficiency and neuropsychiatric disease. The aim of our study was to analyze the prevalence of vitamin D deficiency in a 1-year cohort of adult inpatients with schizophreniform and autism spectrum syndromes in a naturalistic inpatient setting in Germany. PARTICIPANTS AND METHODS: Our study was comprised of 60 adult schizophreniform and 23 adult high-functioning autism spectrum patients who were hospitalized between January and December of 2015. We compared our findings with a historical German reference cohort of 3,917 adults using Pearson’s two-sided chi-squared test. The laboratory measurements of 25-hydroxyvitamin D2/3 [25(OH)vitamin D] were obtained using a chemiluminescence immunoassay. RESULTS: In the schizophreniform group, we found decreased (<20 ng/ml) 25(OH)vitamin D levels in 48/60 (80.0%) of the patients. In the autism spectrum group, decreased levels were detected in 18/23 (78.3%) of the patients. 25(OH)vitamin D deficiencies were found in 57.3% of the historical control group. Particularly, severe deficiencies (<10 ng/ml) occurred much more frequently in the schizophreniform (38.3%) and autism spectrum groups (52.2%), when compared to the control group (16.3%). The recommended 25(OH)vitamin D values of >30 ng/ml were observed in only 5% of the schizophreniform patients, 8.7% of the autism spectrum patients, and 21.9% of the healthy controls. DISCUSSION: We found very high rates of 25(OH)vitamin D deficiencies in both patient groups and have discussed whether our findings might be related to alterations in the immunological mechanisms. Irrespective of the possible pathophysiological links between vitamin D deficiency and schizophrenia or autism spectrum disorders, a more frequent measurement of vitamin D levels seems to be justified in these patient groups. Further prospective, controlled, blinded, and randomized research should be conducted to analyze the effectiveness of vitamin D supplementation on the improvement of psychiatric symptoms.
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8. Garcia-Lopez C, Sarria E, Pozo P, Recio P. {{Supportive Dyadic Coping and Psychological Adaptation in Couples Parenting Children with Autism Spectrum Disorder: The Role of Relationship Satisfaction}}. {J Autism Dev Disord};2016 (Nov);46(11):3434-3447.
In couples parenting children with Autism Spectrum Disorder (ASD), the partner becomes a primary source of support for addressing the additional parenting demands. The purpose of this study was to examine the associations between supportive dyadic coping and parental adaptation, and to assess the mediating role of relationship satisfaction between them. Seventy-six couples parenting children with ASD participated. Data were gathered through self-report questionnaires and an Actor-Partner Interdependence Mediation Model was used. Mothers’ and fathers’ supportive dyadic coping was related to both their own and partner’s relationship satisfaction and parental adaptation. Findings also revealed the mediation role of relationship satisfaction, in the association between supportive dyadic coping and parental adaptation. The implications for research and clinical practice are discussed.
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9. Gilson CB, Carter EW. {{Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study}}. {J Autism Dev Disord};2016 (Nov);46(11):3583-3596.
The employment outcomes for young adults with autism or intellectual disability (ID) lag far behind those of their peers without disabilities. Most postsecondary education programs for students with disabilities incorporate internship experiences to foster employment skills. However, the proximity of job coaches may inadvertently hinder social opportunities and independence. We used a multiple-probe, single-case experimental design across three college students with autism or ID to examine the effects of a coaching package on task engagement and social interactions. For all participants, interactions increased and task engagement maintained when job coaches reduced proximity and delivered prompts discreetly through bug-in-ear devices. Participants considered the intervention beneficial and unobtrusive. We present implications for supporting employment preparation within postsecondary education programs.
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10. Grainger C, Williams DM, Lind SE. {{Judgment of Learning Accuracy in High-functioning Adolescents and Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov);46(11):3570-3582.
This study explored whether adults and adolescents with autism spectrum disorder (ASD) demonstrate difficulties making metacognitive judgments, specifically judgments of learning. Across two experiments, the study examined whether individuals with ASD could accurately judge whether they had learnt a piece of information (in this case word pairs). In Experiment 1, adults with ASD demonstrated typical accuracy on a standard ‘cue-alone’ judgment of learning (JOL) task, compared to age- and IQ-matched neurotypical adults. Additionally, in Experiment 2, adolescents with ASD demonstrated typical accuracy on both a standard ‘cue-alone’ JOL task, and a ‘cue-target’ JOL task. These results suggest that JOL accuracy is unimpaired in ASD. These results have important implications for both theories of metacognition in ASD and educational practise.
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11. Green D, Chandler S, Charman T, Simonoff E, Baird G. {{Brief Report: DSM-5 Sensory Behaviours in Children With and Without an Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov);46(11):3597-3606.
Atypical responses to sensory stimuli are a new criterion in DSM-5 for the diagnosis of an autism spectrum disorder (ASD) but are also reported in other developmental disorders. Using the Short Sensory profile (SSP) and Autism Diagnostic Interview-Revised we compared atypical sensory behaviour (hyper- or hypo-reactivity to sensory input or unusual sensory interests) in children aged 10-14 years with (N = 116) or without an ASD but with special educational needs (SEN; N = 72). Atypical sensory behaviour was reported in 92 % of ASD and 67 % of SEN children. Greater sensory dysfunction was associated with increased autism severity (specifically restricted and repetitive behaviours) and behaviour problems (specifically emotional subscore) on teacher and parent Strengths and Difficulties Questionnaires but not with IQ.
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12. Happe FG, Mansour H, Barrett P, Brown T, Abbott P, Charlton RA. {{Demographic and Cognitive Profile of Individuals Seeking a Diagnosis of Autism Spectrum Disorder in Adulthood}}. {J Autism Dev Disord};2016 (Nov);46(11):3469-3480.
Little is known about ageing with autism spectrum disorder (ASD). We examined the characteristics of adults referred to a specialist diagnostic centre for assessment of possible ASD, 100 of whom received an ASD diagnosis and 46 did not. Few demographic differences were noted between the groups. Comorbid psychiatric disorders were high in individuals with ASD (58 %) and non-ASD (59 %). Individuals who received an ASD diagnosis had higher self-rated severity of ASD traits than non-ASD individuals. Within the ASD group, older age was associated with higher ratings of ASD traits and better cognitive performance. One interpretation is that general cognitive ability and the development of coping strategies across the lifespan, do not necessarily reduce ASD traits but may mitigate their effects.
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13. Hundley RJ, Shui A, Malow BA. {{Relationship Between Subtypes of Restricted and Repetitive Behaviors and Sleep Disturbance in Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov);46(11):3448-3457.
We examined the association of two types of restricted and repetitive behaviors, repetitive sensory motor (RSM) and insistence on sameness (IS), with sleep problems in children with autism spectrum disorder (ASD). Participants included 532 children (aged 2-17) who participated in the Autism Speaks Autism Treatment Network research registry. Confirmatory factor analysis of the Autism Diagnostic Interview-Revised detected the presence of RSM and IS. RSM behaviors were positively associated with parent-reported sleep problems, and this relationship remained significant after controlling for anxiety symptoms. IS was not significantly associated with sleep problems. Better understanding of the relationship between specific types of repetitive behaviors and sleep problems may allow providers to tailor interventions to the individual presentations of their patients with ASD.
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14. Landini M, Merelli I, Raggi ME, Galluccio N, Ciceri F, Bonfanti A, Camposeo S, Massagli A, Villa L, Salvi E, Cusi D, Molteni M, Milanesi L, Marabotti A, Mezzelani A. {{Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort}}. {Int J Mol Sci};2016 (Oct 22);17(10)
Since involved in synaptic transmission and located on X-chromosome, neuroligins 3 and 4X have been studied as good positional and functional candidate genes for autism spectrum disorder pathogenesis, although contradictory results have been reported. Here, we performed a case-control study to assess the association between noncoding genetic variants in NLGN3 and NLGN4X genes and autism, in an Italian cohort of 202 autistic children analyzed by high-resolution melting. The results were first compared with data from 379 European healthy controls (1000 Genomes Project) and then with those from 1061 Italian controls genotyped by Illumina single nucleotide polymorphism (SNP) array 1M-duo. Statistical evaluations were performed using Plink v1.07, with the Omnibus multiple loci approach. According to both the European and the Italian control groups, a 6-marker haplotype on NLGN4X (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, p-value = 2.58 x 10-6 for the European controls; odds ratio = 2.42, p-value = 6.33 x 10-3 for the Italian controls). Furthermore, several haplotype blocks at 5-, 4-, 3-, and 2-, including the first 5, 4, 3, and 2 SNPs, respectively, showed a similar association with autism. We provide evidence that noncoding polymorphisms on NLGN4X may be associated to autism, suggesting the key role of NLGN4X in autism pathophysiology and in its male prevalence.
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15. Lane C, Milne E, Freeth M. {{Characteristics of Autism Spectrum Disorder in Sotos Syndrome}}. {J Autism Dev Disord};2016 (Oct 22)
Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score >/=60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD.
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16. Llambias C, Magill-Evans J, Smith V, Warren S. {{Equine-Assisted Occupational Therapy: Increasing Engagement for Children With Autism Spectrum Disorder}}. {Am J Occup Ther};2016 (Nov/Dec);70(6):7006220040p7006220041-7006220040p7006220049.
Engagement in meaningful activities is essential to development and is often reduced in children with autism spectrum disorder (ASD) who have limited engagement in activities or relationships. A multiple-baseline design was used with 7 children with ASD ages 4-8 yr to assess the effect of including a horse in occupational therapy intervention on task engagement. The children showed improvements in engagement. Including horses in occupational therapy sessions may be a valuable addition to conventional treatments to increase task engagement of children with ASD. Factors related to the environment, therapeutic strategies, and individual participation need to be considered in understanding why this intervention may be effective and developing a theoretical basis for implementation.
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17. Majumder P, Chu JF, Chatterjee B, Swamy KB, Shen CJ. {{Co-regulation of mRNA translation by TDP-43 and Fragile X Syndrome protein FMRP}}. {Acta Neuropathol};2016 (Nov);132(5):721-738.
For proper mammalian brain development and functioning, the translation of many neuronal mRNAs needs to be repressed without neuronal activity stimulations. We have discovered that the expression of a subclass of neuronal proteins essential for neurodevelopment and neuron plasticity is co-regulated at the translational level by TDP-43 and the Fragile X Syndrome protein FMRP. Using molecular, cellular and imaging approaches, we show that these two RNA-binding proteins (RBP) co-repress the translation initiation of Rac1, Map1b and GluR1 mRNAs, and consequently the hippocampal spinogenesis. The co-repression occurs through binding of TDP-43 to mRNA(s) at specific UG/GU sequences and recruitment of the inhibitory CYFIP1-FMRP complex by its glycine-rich domain. This novel regulatory scenario could be utilized to silence a significant portion of around 160 common target mRNAs of the two RBPs. The study establishes a functional/physical partnership between FMRP and TDP-43 that mechanistically links several neurodevelopmental disorders and neurodegenerative diseases.
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18. Malkki H. {{Neurodevelopmental disorders: Maternal antibodies induce autism-like phenotype in mice}}. {Nat Rev Neurol};2016 (Oct 21)
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19. Pecora LA, Mesibov GB, Stokes MA. {{Sexuality in High-Functioning Autism: A Systematic Review and Meta-analysis}}. {J Autism Dev Disord};2016 (Nov);46(11):3519-3556.
Preliminary research examining sexuality within High-Functioning Autism (HFA) has been yet to consider the impact sex may have on the sexual/romantic functioning of this population. A systematic database search was carried out to identify 27 observational and cross-sectional publications meeting predetermined inclusion criteria. Using standardised mean differences, a random-effects meta-analysis pooled data from 9 eligible studies. Exhibiting higher levels of sexual understanding, females with HFA were subject to more adverse sexual experiences than males with HFA and neurotypical counterparts. Males reported greater desire for, and engagement in both solitary and dyadic sexual contact. Findings have provided initial insight into characterising the sexuality of males and females with HFA, yet also necessitated the need for future research in the field.
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20. Safari MR, Ghafouri-Fard S, Noroozi R, Sayad A, Omrani MD, Komaki A, Eftekharian MM, Taheri M. {{FOXP3 gene variations and susceptibility to autism: A case-control study}}. {Gene};2016 (Oct 14)
Autism Spectrum Disorders (ASD) are a group of heterogeneous neurodevelopmental disorders associated with immune system dysregulation. There are supporting evidences for the role of Forkhead Box P3 (FOXP3) gene as a lineage specification factor of regulatory T cells in the pathogenesis of ASD. The aim of this study was to explore possible relationship between genetic variants rs2232365 and rs3761548 of FOXP3 and ASD in 523 ASD patients versus 472 control individuals. Allele frequency analyses showed significant overpresentation of rs2232365-G allele in cases versus controls. In addition, rs2232365 GG genotype was associated with ASD in dominant inheritance model. Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. Our study indicated that rs2232365 is associated with ASD.
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21. Schupak BM, Parasher RK, Zipp GP. {{Reliability of Electrodermal Activity: Quantifying Sensory Processing in Children With Autism}}. {Am J Occup Ther};2016 (Nov/Dec);70(6):7006220030p7006220031-7006220030p7006220036.
OBJECTIVE: We established test-retest reliability of electrodermal markers used to quantify physiological response to sensation using the Sensory Challenge Protocol in children with and without autism spectrum disorder (ASD). METHOD: Electrodermal activity (EDA) was measured during rest and in response to sensory inputs. Fourteen children with ASD and 18 typically developing children were tested and retested after 2-6 wk on skin conductance response, skin conductance level, nonspecific skin conductance response, and habituation. RESULTS: Test-retest reliability was evaluated with intraclass correlation coefficients (ICCs). Rest-phase coefficients for both groups were moderate (.65-.73). ICCs during response to sensation ranged from moderate to good for amplitude (.60-.81) and magnitude (.50-.75). In addition, moderate to excellent reliability (.51-.93) was observed for nonspecific response measures. CONCLUSION: EDA measures are reliable physiological markers that can quantify response to sensation in children with and without ASD.
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22. Singer AB, Windham GC, Croen LA, Daniels JL, Lee BK, Qian Y, Schendel DE, Fallin MD, Burstyn I. {{Maternal Exposure to Occupational Asthmagens During Pregnancy and Autism Spectrum Disorder in the Study to Explore Early Development}}. {J Autism Dev Disord};2016 (Nov);46(11):3458-3468.
Maternal immune activity has been linked to children with autism spectrum disorder (ASD). We examined maternal occupational exposure to asthma-causing agents during pregnancy in relation to ASD risk. Our sample included 463 ASD cases and 710 general population controls from the Study to Explore Early Development whose mothers reported at least one job during pregnancy. Asthmagen exposure was estimated from a published job-exposure matrix. The adjusted odds ratio for ASD comparing asthmagen-exposed to unexposed was 1.39 (95 % CI 0.96-2.02). Maternal workplace asthmagen exposure was not associated with ASD risk in this study, but this result does not exclude some involvement of maternal exposure to asthma-causing agents in ASD.
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23. Smith AD, Kenny L, Rudnicka A, Briscoe J, Pellicano E. {{Drawing Firmer Conclusions: Autistic Children Show No Evidence of a Local Processing Bias in a Controlled Copying Task}}. {J Autism Dev Disord};2016 (Nov);46(11):3481-3492.
Drawing tasks are frequently used to test competing theories of visuospatial skills in autism. Yet, methodological differences between studies have led to inconsistent findings. To distinguish between accounts based on local bias or global deficit, we present a simple task that has previously revealed dissociable local/global impairments in neuropsychological patients. Autistic and typical children copied corner elements, arranged in a square configuration. Grouping cues were manipulated to test whether global properties affected the accuracy of reproduction. All children were similarly affected by these manipulations. There was no group difference in the reproduction of local elements, although global accuracy was negatively related to better local processing for autistic children. These data speak against influential theories of visuospatial differences in autism.
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24. Soke GN, Rosenberg SA, Hamman RF, Fingerlin T, Robinson C, Carpenter L, Giarelli E, Lee LC, Wiggins LD, Durkin MS, DiGuiseppi C. {{Brief Report: Prevalence of Self-injurious Behaviors among Children with Autism Spectrum Disorder-A Population-Based Study}}. {J Autism Dev Disord};2016 (Nov);46(11):3607-3614.
Self-injurious behaviors (SIB) have been reported in more than 30 % of children with an autism spectrum disorder (ASD) in clinic-based studies. This study estimated the prevalence of SIB in a large population-based sample of children with ASD in the United States. A total of 8065 children who met the surveillance case definition for ASD in the Autism and Developmental Disabilities Monitoring (ADDM) Network during the 2000, 2006, and 2008 surveillance years were included. The presence of SIB was reported from available health and/or educational records by an expert clinician in ADDM Network. SIB prevalence averaged 27.7 % across all sites and surveillance years, with some variation between sites. Clinicians should inquire about SIB during assessments of children with ASD.
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25. Suh J, Orinstein A, Barton M, Chen CM, Eigsti IM, Ramirez-Esparza N, Fein D. {{Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov);46(11):3505-3518.
The study examines whether « optimal outcome » (OO) children, despite no longer meeting diagnostic criteria for Autism Spectrum Disorder (ASD), exhibit personality traits often found in those with ASD. Nine zero acquaintance raters evaluated Broader Autism Phenotype (BAP) and Big Five personality traits of 22 OO individuals, 27 high functioning individuals with ASD (HFA), and 23 typically developing (TD) peers. HFA children displayed higher ratings than their peers on all BAP traits. OO were indistinguishable from TD, with the exception of greater extraversion (e.g., increased talkativeness), a potential tendency to be less emotionally stable, and pragmatic language deficits such as getting sidetracked in conversation. Overall, OO individuals are not showing BAP characteristics, but may be subject to other mild ADHD-like characteristics.
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26. Walker SJ, Beavers DP, Fortunato J, Krigsman A. {{A Putative Blood-Based Biomarker for Autism Spectrum Disorder-Associated Ileocolitis}}. {Sci Rep};2016 (Oct 21);6:35820.
Gastrointestinal symptoms are common in children with autism spectrum disorder (ASD). A significant proportion of children with ASD and gastrointestinal symptoms have histologic evidence of ileocolitis (inflammation of the terminal ileum and/or colon). We previously reported the molecular characterization of gastrointestinal biopsy tissue from ASD children with ileocolitis (ASDIC+) compared to anatomically similar inflamed tissue from typically developing children with inflammatory bowel disease (IBD; i.e. Crohn’s disease or ulcerative colitis) and typically developing children with gastrointestinal symptoms but no evidence of gastrointestinal mucosal inflammation (TDIC-). ASDIC+ children had a gene expression profile that, while primarily overlapping with known IBD, had distinctive differences. The present study confirms these findings and replicates this molecular characterization in a second cohort of cases (ASDIC+) and controls (TDIC-). In these two separate case/control mucosal-based cohorts, we have demonstrated overlap of 59 differentially expressed transcripts (DETs) unique to inflamed ileocolonic tissue from symptomatic ASDIC+ children. We now report that 9 of these 59 transcripts are also differentially expressed in the peripheral blood of the second cohort of ASDIC+ children. This set of transcripts represents a putative blood-based biomarker for ASD-associated ileocolonic inflammation.
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27. Wang GX, Smith SJ, Mourrain P. {{Sub-synaptic, multiplexed analysis of proteins reveals Fragile X related protein 2 is mislocalized in Fmr1 KO synapses}}. {Elife};2016 (Oct 22);5
The distribution of proteins within sub-synaptic compartments is an essential aspect of their neurological function. Current methodology such as electron microscopy (EM) and super-resolution imaging techniques can provide precise localization of proteins, but are often limited to a small number of one-time observations with narrow spatial and molecular coverage. The diversity of synaptic proteins and synapse types demands synapse analysis on a scale that is prohibitive with current methods. Here, we demonstrate SubSynMAP, a fast, multiplexed sub-synaptic protein analysis method using wide-field data from deconvolution array tomography (ATD). SubSynMAP generates probability distributions of proteins that reveal their functional range within the averaged synapse of a particular class. This enables the differentiation of closely juxtaposed proteins. Using this method, we analyzed 15 synaptic proteins in normal and Fragile X mental retardation syndrome (FXS) model mouse cortex, and revealed disease specific modifications of sub-synaptic protein distributions across synapse classes and cortical layers.
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28. Xie N, Gong H, Suhl JA, Chopra P, Wang T, Warren ST. {{Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome}}. {PLoS One};2016;11(10):e0165499.
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing. Epigenetic modifying drugs can only transiently and modestly induce FMR1 reactivation in the presence of the elongated CGG repeat. As a proof-of-principle, we excised the expanded CGG-repeat in both somatic cell hybrids containing the human fragile X chromosome and human FXS iPS cells using the CRISPR/Cas9 genome editing. We observed transcriptional reactivation in approximately 67% of the CRISPR cut hybrid colonies and in 20% of isolated human FXS iPSC colonies. The reactivated cells produced FMRP and exhibited a decline in DNA methylation at the FMR1 locus. These data demonstrate the excision of the expanded CGG-repeat from the fragile X chromosome can result in FMR1 reactivation.
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29. Yang Y, Kucukkal TG, Li J, Alexov E, Cao W. {{Binding Analysis of Methyl-CpG Binding Domain of MeCP2 and Rett Syndrome Mutations}}. {ACS Chem Biol};2016 (Oct 21);11(10):2706-2715.
Methyl-CpG binding protein 2 (MeCP2) binds to methylated cytosine in CpG island through its methyl-CpG binding domain (MBD). Here, the effects of the Rett syndrome-causing missense mutations on binding affinity of MBD to cytosine (C), methylcytosine (mC), hydroxymethylcytosine (hmC), formylcytosine (fC), and carboxylcytosine (caC) in CpG dinucleotide are investigated. MeCP2-MBD binds to mC-containing variants of double stranded CpG stronger than any other cytosine modified CpG with the strongest affinity to mC/mC. Thirteen MBD missense mutations show reduced binding affinity for mC/mC ranging with a 2-fold decrease for T158M to 88-fold for R111G. The binding affinities of these mutants to C/C are also reduced to various degrees except for T158M. Consistent with free energy perturbation analysis, correlation of binding affinity with protein unfolding allows for grouping mutations into three clusters. Correlation of the first cluster includes mutations that have a higher tendency to unfold and have lesser affinity to mC/mC and C/C. Mutations in the second cluster have similar structural stability but various affinities to mC/mC and C/C. R111G and A140V belong to the third cluster in which the loss of protein flexibility may underlie their reduction in binding affinity to mC/mC and C/C. Most notably, R111 emerges as the key structural element that modulates the specific contacts with mCpG. Implications of the results for the mCpG binding mechanism of MeCP2-MBD are discussed. These analyses provide new insights on the structure and function relationships in MeCP2-MBD and offer new clues to their roles in the pathology of Rett syndrome.
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30. Zheng Z, Warren Z, Weitlauf A, Fu Q, Zhao H, Swanson A, Sarkar N. {{Brief Report: Evaluation of an Intelligent Learning Environment for Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Nov);46(11):3615-3621.
Researchers are increasingly attempting to develop and apply innovative technological platforms for early detection and intervention of autism spectrum disorder (ASD). This pilot study designed and evaluated a novel technologically-mediated intelligent learning environment with relevance to early social orienting skills. The environment was endowed with the capacity to administer social orienting cues and adaptively respond to autonomous real-time measurement of performance (i.e., non-contact gaze measurement). We evaluated the system with both toddlers with ASD (n = 8) as well as typically developing infants (n = 8). Children in both groups were able to ultimately respond accurately to social prompts delivered by the technological system. Results also indicated that the system was capable of attracting and pushing toward correct performance autonomously without user intervention.
