1. Akers JS, Higbee TS, Gerencser KR, Pellegrino AJ. {{An evaluation of group activity schedules to promote social play in children with autism}}. {J Appl Behav Anal};2018 (May 14)
Children with autism spectrum disorder (ASD) often have deficits in social skills and may avoid engaging in play activities with typically developing peers. The purpose of this study was to identify the utility of activity schedules, with embedded scripts, to teach three children with ASD to play a complex social game. Specifically, children with ASD were taught to play hide-and-seek with typically developing peers. Once the activity schedules were introduced, participants began engaging in independent hide-and-seek behaviors. A secondary purpose of this study was to systematically fade the activity schedules to the least intrusive version. We faded all of the scripts and the majority of activity schedule components for the three participants. Participants continued to play hide-and-seek with the faded versions of the schedules in a novel environment and 2 weeks after treatment concluded.
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2. Becerra-Culqui TA, Lynch FL, Owen-Smith AA, Spitzer J, Croen LA. {{Parental First Concerns and Timing of Autism Spectrum Disorder Diagnosis}}. {J Autism Dev Disord};2018 (May 12)
Specific developmental concerns can distinguish between an early versus later diagnosis of autism spectrum disorder (ASD). Caregiver survey responses of children >/= 9 years-of-age (2012) with ASD were used to evaluate developmental concerns and associations with age of diagnosis [early (< 3 years: n = 106) vs. later (>/= 3 years: n = 432)] using logistic regression. Concerns arose at mean age 18 and 35-months for children diagnosed early versus later, respectively. Concerns about poor eye contact (aOR 1.81, CI 1.08, 3.05), pointing/gesturing (aOR 2.74, CI 1.60, 4.70), response to own name (aOR 3.03, CI 1.75, 5.23), and babbling/speaking (aOR 1.67, CI 0.98, 2.82) were associated with an early diagnosis. Caregivers and pediatricians are critical in early identification and timely entry into intervention.
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3. Bertilsson I, Gyllensten AL, Opheim A, Gard G, Sjodahl Hammarlund C. {{Understanding one’s body and movements from the perspective of young adults with autism: A mixed-methods study}}. {Res Dev Disabil};2018 (May 14);78:44-54.
BACKGROUND: There are but a few studies of how persons with autism perceive their bodies and movements. Difficulties in perceiving the surrounding world along with disturbed motor coordination and executive functions may affect physical and psychological development. AIMS: To explore the experiences of body and movements in young adults with autism and how two physiotherapeutic instruments may capture these experiences. PROCEDURES: Eleven young adults (16-22 years) with autism were interviewed and assessed using Bruininks-Oseretsky Test of Motor Proficiency (BOT2) and Body Awareness Scale Movement Quality and Experience (BAS MQ-E). Following a mixed- methods design, the interviews were deductively analyzed and conceptually integrated to the results of the two assessments. RESULTS: Experiencing conflicting feelings about their bodies/movements, led to low understanding of themselves. The assessments captured these experiences relatively well, presenting both movement quality and quantity. Positive experiences and better movement quality related to having access to more functional daily strategies. CONCLUSION: Combining motor proficiency and body awareness assessments was optimal to understand the participants’ experiences. IMPLICATIONS: To capture body and movement functions in persons with autism in this standardized manner will lead to improved and reliable diagnoses, tailored interventions, increased body awareness and activity, and enhanced quality of life.
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4. Coffey JM, Vadas A, Puleo Y, Lewis K, Pirone G, Rudolph HL, Helms E, Wood TD, Flynn-Charlebois A. {{Synthesis and Characterization of a deuterium labeled Stercobilin: A Potential Biomarker for Autism}}. {J Labelled Comp Radiopharm};2018 (May 14)
Stercobilin is an end-stage metabolite of hemoglobin, a component of red blood cells. It has been found that there is a significantly lower concentration of stercobilin in the urine of people diagnosed with Autism Spectrum Disorders (ASD), suggesting potential utility as a biomarker. In vitro, we have synthesized stercobilin from its precursor bilirubin through a reduction reaction proceeded by an oxidation reaction. In addition, we have isotopically labeled the stercobilin product with deuterium using this protocol. Nuclear Magnetic Resonance (NMR) investigations show the products of the unlabeled stercobilin (Rxn 1) and the deuterated stercobilin (Rxn 2) both had a loss of signals in the 5.0-7.0 ppm range indicating proper conversion to stercobilin. Changes in the multiplicity of the sp3 region of the proton NMR suggest proper deuterium incorporation. Mass Spectrometry (MS) studies of Rxn 1 show a difference in fragmentation patterns than that of Rxn 2 proposing potential locations for deuterium incorporation. This isotopologue of stercobilin is stable (> 6 months), and further analysis permits investigation for its use as a biomarker and potential quantitative diagnostic probe for ASD.
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5. Karvelis P, Seitz AR, Lawrie SM, Series P. {{Autistic traits, but not schizotypy, predict increased weighting of sensory information in Bayesian visual integration}}. {Elife};2018 (May 14);7
Recent theories propose that schizophrenia/schizotypy and autistic spectrum disorder are related to impairments in Bayesian inference that is, how the brain integrates sensory information (likelihoods) with prior knowledge. However existing accounts fail to clarify: (i) how proposed theories differ in accounts of ASD vs. schizophrenia and (ii) whether the impairments result from weaker priors or enhanced likelihoods. Here, we directly address these issues by characterizing how 91 healthy participants, scored for autistic and schizotypal traits, implicitly learned and combined priors with sensory information. This was accomplished through a visual statistical learning paradigm designed to quantitatively assess variations in individuals’ likelihoods and priors. The acquisition of the priors was found to be intact along both traits spectra. However, autistic traits were associated with more veridical perception and weaker influence of expectations. Bayesian modeling revealed that this was due, not to weaker prior expectations, but to more precise sensory representations.
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6. Miller EK, Lenke LG, Neuman BJ, Sciubba DM, Kebaish KM, Smith JS, Qiu Y, Dahl BT, Pellise F, Matsuyama Y, Carreon LY, Fehlings MG, Cheung KM, Lewis S, Dekutoski MB, Schwab FJ, Boachie-Adjei O, Mehdian H, Bess S, Shaffrey CI, Ames CP. {{External Validation of the Adult Spinal Deformity (ASD) Frailty Index (ASD-FI) in the Scoli-RISK-1 Patient Database}}. {Spine (Phila Pa 1976)};2018 (May 14)
STUDY DESIGN: Analysis of a prospective multicenter database. OBJECTIVE: To assess the ability of the recently created Adult Spinal Deformity (ASD) Frailty Index (ASD-FI) to predict odds of major complications and length of hospital stay for patients who had more severe preoperative deformity and underwent more invasive ASD surgery compared with patients in the database used to create the index. SUMMARY OF BACKGROUND DATA: Accurate preoperative estimates of risk are necessary given the high complication rates currently associated with ASD surgery. METHODS: Patients were enrolled by participating institutions in Europe, Asia, and North America from 2009 to 2011. ASD-FI scores were used to classify 267 patients as not frail (NF) (<0.3), frail (0.3-0. 5), or severely frail (SF) (>0.5). Multivariable logistic regression, adjusted for preoperative and surgical covariates such as operative time and blood loss, was performed to determine the relationship between ASD-FI category and incidence of major complications, overall incidence of complications, and length of hospital stay. RESULTS: The mean ASD-FI score was 0.3 (range, 0-0.7). We categorized 105 patients as NF, 103 as frail, and 59 as SF. The adjusted odds of developing a major complication were higher for SF patients (odds ratio = 4.4; 95% CI 2.0, 9.9) compared with NF patients. After adjusting for covariates, length of hospital stay for SF patients increased by 19% (95% CI 1.4%, 39%) compared with NF patients. The odds of developing a major complication or having increased length of stay were similar between frail and NF patients. CONCLUSIONS: Greater patient frailty, as measured by the ASD-FI, is associated with a longer hospital stay and greater risk of major complications among patients who have severe preoperative deformity and undergo invasive surgical procedures. LEVEL OF EVIDENCE: 2.
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7. Rommelse N, Visser J, Hartman C. {{Differentiating between ADHD and ASD in childhood: some directions for practitioners}}. {Eur Child Adolesc Psychiatry};2018 (May 12)
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8. Smith IN, Thacker S, Jaini R, Eng C. {{Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes}}. {J Biomol Struct Dyn};2018 (May 14):1-17.
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS). PHTS confers a high risk of breast, thyroid, and other cancers or autism spectrum disorder (ASD) with macrocephaly. It remains unclear why mutations in one gene can lead to seemingly disparate phenotypes. Thus, we sought to identify differences in ASD vs. cancer-associated germline PTEN missense mutations by investigating putative structural effects induced by each mutation. We utilized a theoretical computational approach combining in silico structural analysis and molecular dynamics (MD) to interrogate 17 selected mutations from our patient population: six mutations were observed in patients with ASD (only), six mutations in patients with PHTS-associated cancer (only), four mutations shared across both phenotypes, and one mutation with both ASD and cancer. We demonstrate structural stability changes where all six cancer-associated mutations showed a global decrease in structural stability and increased dynamics across the domain interface with a proclivity to unfold, mediating a closed (inactive) active site. In contrast, five of the six ASD-associated mutations showed localized destabilization that contribute to the partial opening of the active site. Our results lend insight into distinctive structural effects of germline PTEN mutations associated with PTEN-ASD vs. those associated with PTEN-cancer, potentially aiding in identification of the shared and separate molecular features that contribute to autism or cancer, thus, providing a deeper understanding of genotype-phenotype relationships for germline PTEN mutations.
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9. Tilmont Pittala E, Saint-Georges-Chaumet Y, Favrot C, Tanet A, Cohen D, Saint-Georges C. {{Clinical outcomes of interactive, intensive and individual (3i) play therapy for children with ASD: a two-year follow-up study}}. {BMC Pediatr};2018 (May 12);18(1):165.
BACKGROUND: The outcomes of psycho-educational interventions for Autism Spectrum Disorders (ASDs) comorbid with severe to moderate intellectual disability (ID) are insufficiently documented. In this prospective study, we examined a developmental individual, interactive and intensive approach, called the ‘3i method’, which is based on play therapy. METHODS: Twenty DSM-IV-TR ASD subjects (mean chronological age 63.8 +/- 37.8 months; mean developmental age 19.5 +/- 6.6 months) were included and followed the 3i method for 24 months. Developmental and behavioural skills were assessed at baseline and after 24 months using the VABS, PEP-R and Nadel Imitation scale. Autism severity was evaluated using the Child Autism Rating Scale (CARS) and the Autism Diagnostic Interview (ADI-R). RESULTS: After 2 years of the 3i method, our 3 primary outcome variables significantly increased (VABS developmental age of socialization increased by 83%, age of communication by 34%, and Nadel Imitation score by 53%). Almost all VABS and PEP-R domains significantly improved. Additionally, increases in the VABS socialization score were positively correlated with the total number of treatment hours and CARS score; all ADI-R areas significantly decreased; and diagnoses had changed in 47.5% of the subjects (37% for PDD-NOS and even 10.5% for ID without PDD). CONCLUSION: Children who followed the 3i method for 2 years had significantly improved behavioural and developmental skills and showed a clear decrease in autism severity. These results suggest that the 3i method may be useful for autistic children by improving their daily interactions with their social environment. TRIAL REGISTRATION: was retrospectively registered on May 20th, 2014 by the French Agency for drug and health (ANSM) under number ID-RCB 2014-A00542-45, reference: B148558-31.
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10. Wang GF, Ye S, Gao L, Han Y, Guo X, Dong XP, Su YY, Zhang X. {{Two single-nucleotide polymorphisms of the RELN gene and symptom-based and developmental deficits among children and adolescents with autistic spectrum disorders in the Tianjin, China}}. {Behav Brain Res};2018 (May 16);350:1-5.
Increasing evidence has revealed that genetic variants in Reelin (RELN) gene, especially single-nucleotide polymorphisms (SNPs), correlate with autistic spectrum disorders (ASD) risk; however, no consensus have been reached. This study aimed to provide additional evidence for the association between two SNPs of RELN (i.e., rs736707, rs2229864) and ASD risk, as well as the relationship between RELN gene and symptom-based and developmental deficits of ASD patients in Chinese Han children and adolescents. 157 ASD subjects and 256 typical development (TD) controls were genotyped by TaqMan(R) genotyping assay. ASD patients were assessed by Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC), and Early Childhood Development Questionnaire (ECDQ). We found that SNP rs2229864 was associated with the genetic predisposition of ASD, whereas a negative association between SNP rs2229864 and symptom-based and developmental features was detected. In contrast, RELN rs736707 correlated with the sensory subscale of the ABC, the relating subscale of the ABC and the total score of ABC, although we did not detect a significant association between SNP rs736707 and ASD risk. Furthermore, a significant rs736707-rs2229864 haplotype was detected. Individuals with a CC haplotype were more likely to have ASD, but individuals with a CT haplotype had more chance be TD controls. Further studies using more samples and including more gene variants in RELN are warranted to confirm our results.
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11. Yang J, Chen Y, Xiong X, Zhou X, Han L, Ni E, Wang W, Wang X, Zhao L, Shao D, Huang C. {{Peptidome Analysis Reveals Novel Serum Biomarkers for Children with Autism Spectrum Disorder in China}}. {Proteomics Clin Appl};2018 (May 13):e1700164.
PURPOSE: Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout one’s life. Early diagnosis is essential for ASD since early treatment can enable children with ASD to make significant gains in language and social skills, but remains challenging since there are currently no specific biomarkers of ASD. The study aimed to identify serum biomarkers for ASD. EXPERIMENTAL DESIGN: Serum of Han Chinese children with ASD (n = 68) and age-matched healthy controls (n = 80) was analyzed using magnetic bead-based separation combined with mass spectrum. RESULTS: Eight potential ASD serum biomarker peaks (m/z: 3886.69, 7775.12, 2381.71, 6638.63, 3319.17, 894.34, 4968.59, and 5910.53) with higher expression in ASD group were further identified as peptide regions of Plasma Serine Protease Inhibitor Precursor (SERPINA5), Platelet Factor 4 (PF4), Fatty Acid Binding Protein 1(FABP1), Apolipoprotein C-I Precursor (APOC1), Alpha-fetoprotein Precursor (AFP), Carboxypeptidase B2 (CPB2), Trace Amine-associated Receptor 6 (TAAR6) and Isoform1 of Fibrinogen Alpha Chain Precursor (FGA). The expression of identified proteins was validated by enzyme-linked immunosorbent assay (ELISA). CONCLUSIONS AND MEDICAL RELEVANCE: Our findings reveal the exceptional disease etiology of ASD from a serum proteomic perspective, and the identified proteins might be potential biomarkers for ASD diagnosis. This article is protected by copyright. All rights reserved.
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12. Yue S, Naveed M, Gang W, Chen D, Wang Z, Yu F, Zhou X. {{Cardiac support device (ASD) delivers bone marrow stem cells repetitively to epicardium has promising curative effects in advanced heart failure}}. {Biomed Microdevices};2018 (May 12);20(2):40.
Ventricular restraint therapy is a non-transplant surgical option for the management of advanced heart failure (HF). To augment the therapeutic applications, it is hypothesized that ASD shows remarkable capabilities not only in delivering stem cells but also in dilated ventricles. Male SD rats were divided into four groups (n = 6): normal, HF, HF + ASD, and HF + ASD-BMSCs respectively. HF was developed by left anterior descending (LAD) coronary artery ligation in all groups except normal group. Post-infarcted electrocardiography (ECG) and brain natriuretic peptide (BNP) showed abnormal heart function in all model groups and HF + ASD-BMSCs group showed significant improvement as compared to other HF, HF + ASD groups on day 30. Masson’s trichrome staining was used to study the histology, and a large blue fibrotic area has been observed in HF and HF + ASD groups and quantification of fibrosis was assessed. ASD-treated rats showed normal heart rhythm, demonstrated by smooth -ST and asymmetrical T-wave. The mechanical function of the heart such as left ventricular systolic pressure (LVSP), left ventricular end-diastolic pressure (LVEDP) and heart rate was brought to normal when treated with ASD-BMSCs. This effect was more prominent than that of ASD therapy alone. In comparison to HF group, the SD rats in HF + ASD-BMBCs group showed a significant decline in BNP levels. So ASD can deliver BMSCs to the cardiomyocytes successfully and broaden the therapeutic efficacy, in comparison to the restraint device alone. An effective methodology to manage the end-stage HF has been proved.
