1. Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL. {{Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length}}. {Am J Med Genet A}. 2017.
Women who carry a fragile X premutation, defined as having 55-200 unmethylated CGG repeats in the 5′ UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency (FXPOI). We tested the hypothesis that women with a premutation + FXPOI have shorter telomeres than those without FXPOI because they are « biologically older. » Using linear regression, we found that women carrying a premutation (n = 172) have shorter telomeres and hence, are « biologically older » than women carrying the normal size allele (n = 81). Strikingly, despite having shorter telomeres, age was not statistically associated with their telomere length, in contrast to non-carrier controls. Further, telomere length within premutation carriers was not associated with repeat length but was associated with a diagnosis of FXPOI, although the latter finding may depend on FXPOI age of onset.
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2. Benevides TW, Carretta HJ, Ivey CK, Lane SJ. {{Therapy access among children with autism spectrum disorder, cerebral palsy, and attention-deficit-hyperactivity disorder: a population-based study}}. {Dev Med Child Neurol}. 2017.
AIM: This study examined cross-sectional population-based rates in reported need and unmet need for occupational, physical, and speech therapy services in children with autism spectrum disorder (ASD) compared with children with attention-deficit-hyperactivity disorder (ADHD) and cerebral palsy (CP). METHOD: The 2005-2006 and 2009-2010 (USA) National Survey of Children with Special Health Care data sets were used to compare therapy need and unmet need among children younger than 18 years with ASD (n=5178), ADHD (n=20 566), and CP (n=1183). Bivariate approaches and multivariate logistic regression using imputed data were used to identify associations between child and family characteristics, and access to therapy services. RESULTS: After adjusting for other variables, children with ASD had a significantly greater likelihood of having an unmet therapy need compared with children with ADHD (odds ratio [OR] 1.66, 95% confidence interval [CI] 1.36-2.03), but a similar unmet need as children with CP (OR 1.30, 95% CI 0.97-1.74). Factors associated with unmet need included survey year, younger child age, no health insurance, and increased functional and behavioral difficulties. INTERPRETATION: Children in our sample had greater unmet therapy needs in 2009 than in 2005. Caregiver-reported reasons for unmet need included cost and school resources. Research examining future trends in therapy access are warranted for children with ASD and CP.
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3. Boone KM, Gracious B, Klebanoff MA, Rogers LK, Rausch J, Coury DL, Keim SA. {{Omega-3 and -6 fatty acid supplementation and sensory processing in toddlers with ASD symptomology born preterm: A randomized controlled trial}}. {Early Hum Dev}. 2017; 115: 64-70.
BACKGROUND: Despite advances in the health and long-term survival of infants born preterm, they continue to face developmental challenges including higher risk for autism spectrum disorder (ASD) and atypical sensory processing patterns. AIMS: This secondary analysis aimed to describe sensory profiles and explore effects of combined dietary docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA), and gamma-linolenic acid (GLA) supplementation on parent-reported sensory processing in toddlers born preterm who were exhibiting ASD symptoms. STUDY DESIGN: 90-day randomized, double blinded, placebo-controlled trial. SUBJECTS: 31 children aged 18-38months who were born at Lien vers le texte intégral (Open Access ou abonnement)
4. Braden BB, Smith CJ, Thompson A, Glaspy TK, Wood E, Vatsa D, Abbott AE, McGee SC, Baxter LC. {{Executive function and functional and structural brain differences in middle-age adults with autism spectrum disorder}}. {Autism Res}. 2017.
There is a rapidly growing group of aging adults with autism spectrum disorder (ASD) who may have unique needs, yet cognitive and brain function in older adults with ASD is understudied. We combined functional and structural neuroimaging and neuropsychological tests to examine differences between middle-aged men with ASD and matched neurotypical (NT) men. Participants (ASD, n = 16; NT, n = 17) aged 40-64 years were well-matched according to age, IQ (range: 83-131), and education (range: 9-20 years). Middle-age adults with ASD made more errors on an executive function task (Wisconsin Card Sorting Test) but performed similarly to NT adults on tests of delayed verbal memory (Rey Auditory Verbal Learning Test) and local visual search (Embedded Figures Task). Independent component analysis of a functional MRI working memory task (n-back) completed by most participants (ASD = 14, NT = 17) showed decreased engagement of a cortico-striatal-thalamic-cortical neural network in older adults with ASD. Structurally, older adults with ASD had reduced bilateral hippocampal volumes, as measured by FreeSurfer. Findings expand our understanding of ASD as a lifelong condition with persistent cognitive and functional and structural brain differences evident at middle-age. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We compared cognitive abilities and brain measures between 16 middle-age men with high-functioning autism spectrum disorder (ASD) and 17 typical middle-age men to better understand how aging affects an older group of adults with ASD. Men with ASD made more errors on a test involving flexible thinking, had less activity in a flexible thinking brain network, and had smaller volume of a brain structure related to memory than typical men. We will follow these older adults over time to determine if aging changes are greater for individuals with ASD.
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5. Chatham CH, Taylor KI, Charman T, Liogier D’ardhuy X, Eule E, Fedele A, Hardan AY, Loth E, Murtagh L, Del Valle Rubido M, San Jose Caceres A, Sevigny J, Sikich L, Snyder L, Tillmann JE, Ventola PE, Walton-Bowen KL, Wang PP, Willgoss T, Bolognani F. {{Adaptive behavior in autism: Minimal clinically important differences on the Vineland-II}}. {Autism Res}. 2017.
Autism Spectrum Disorder (ASD) is associated with persistent impairments in adaptive abilities across multiple domains. These social, personal, and communicative impairments become increasingly pronounced with development, and are present regardless of IQ. The Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) is the most commonly used instrument for quantifying these impairments, but minimal clinically important differences (MCIDs) on Vineland-II scores have not been rigorously established in ASD. We pooled data from several consortia/registries (EU-AIMS LEAP study, ABIDE-I, ABIDE-II, INFOR, Simons Simplex Collection and Autism Treatment Network [ATN]) and clinical investigations and trials (Stanford, Yale, Roche) resulting in a data set of over 9,000 individuals with ASD. Two approaches were used to estimate MCIDs: distribution-based methods and anchor-based methods. Distribution-based MCID [d-MCID] estimates included the standard error of the measurement, as well as one-fifth and one-half of the covariate-adjusted standard deviation (both cross-sectionally and longitudinally). Anchor-based MCID [a-MCID] estimates include the slope of linear regression of clinician ratings of severity on the Vineland-II score, the slope of linear regression of clinician ratings of longitudinal improvement category on Vineland-II change, the Vineland-II change score maximally differentiating clinical impressions of minimal versus no improvement, and equipercentile equating. Across strata, the Vineland-II Adaptive Behavior Composite standardized score MCID estimates range from 2.01 to 3.2 for distribution-based methods, and from 2.42 to 3.75 for sample-size-weighted anchor-based methods. Lower Vineland-II standardized score MCID estimates were observed for younger and more cognitively impaired populations. These MCID estimates enable users of Vineland-II to assess both the statistical and clinical significance of any observed change. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The Vineland Adaptive Behavior Scales (2nd edition; Vineland-II) is the most widely used scale for assessing day-to-day « adaptive » skills. Yet, it is unknown how much Vineland-II scores must change for those changes to be regarded as clinically significant. We pooled data from over 9,000 individuals with ASD to show that changes of 2-3.75 points on the Vineland-II Composite score represent the « minimal clinically-important difference. » These estimates will help evaluate the benefits of potential new treatments for ASD.
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6. Chien YL, Chen YJ, Hsu YC, Tseng WI, Gau SS. {{Altered white-matter integrity in unaffected siblings of probands with autism spectrum disorders}}. {Hum Brain Mapp}. 2017.
Despite the evidence of altered white-matter tract property in individuals with autism spectrum disorder (ASD), little is known about their unaffected siblings. This study aimed to investigate white-matter integrity in unaffected siblings of ASD probands. Thirty-nine unaffected siblings (mean age 15.6 +/- 6.0 years; 27 males, 69.2%) and 39 typically developing controls (TDC) (14.2 +/- 5.6 years; 26 males, 66.7%) were assessed with diffusion spectrum images and neuropsychological tests. Using the tract-based automatic analysis and the threshold-free cluster weighted (TFCW) scores, we searched for the segments among 76 tracts with the largest difference over the entire brain compared to TDC. Tract integrity was quantified by calculating the mean generalized fractional anisotropy (mGFA) values of the segments with the largest difference in TFCW scores. Unaffected siblings showed reduced mGFA in the bilateral frontal aslant tracts, the right superior longitudinal fasciculus 2 (SLF2), the frontostriatal tracts from the right dorsolateral and left ventrolateral prefrontal cortices, the thalamic radiations of the left ventral and the right dorsal thalamus, the callosal fibers of the splenium, and the increased mGFA of the callosal fibers of the precuneus and the left inferior longitudinal fasciculus. Among these, reduced right SLF2 mGFA was associated with social awareness deficits; impaired frontostriatal tract was associated with internalizing problems, while right frontal aslant tract integrity was associated with visual memory deficits. In conclusion, unaffected siblings showed the aberrant integrity of several white-matter tracts, which were correlated with clinical symptoms and neurocognitive dysfunction. The altered tract integrity could be further examined in the probands with ASD. Hum Brain Mapp, 2017. (c) 2017 Wiley Periodicals, Inc.
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7. Crunkhorn S. {{Neurological disorders: Reversing Rett syndrome}}. {Nat Rev Drug Discov}. 2017.
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8. Dixon MR, Belisle J, Munoz BE, Stanley CR, Rowsey KE. {{Teaching metaphorical extensions of private events through rival-model observation to children with autism}}. {J Appl Behav Anal}. 2017.
The study evaluated the efficacy of observational learning using the rival-model technique in teaching three children with autism to state metaphorical statements about emotions when provided a picture, as well as to intraverbally state an appropriate emotion when provided a scenario and corresponding metaphorical emotion. The results provide a preliminary evaluation of how an observational teaching strategy may be effective in teaching children with autism to correctly tact emotions when given metaphors.
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9. Gunes S, Ekinci O, Celik T. {{Iron deficiency parameters in autism spectrum disorder: clinical correlates and associated factors}}. {Ital J Pediatr}. 2017; 43(1): 86.
BACKGROUND: High prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) has been reported in children with autism spectrum disorder (ASD). However, there is a limited number of studies about the association between iron deficiency parameters and clinical symptoms of ASD. This study aims to compare hemoglobin, hematocrit, iron, ferritin, MCV, and RDW levels between ASD patients and healthy controls and to investigate the correlation between these values and clinical symptoms of ASD. METHODS: The sample consisted of 100 children in ASD patient group and 100 healthy controls, with an age range of 2-18 years. We used ferritin cutoff of < 10 ng/mL for preschoolers (< 6 years) and < 12 ng/mL for school-aged (> 6 years) children to evaluate ID. Anemia was defined as hemoglobin < 11.0 g/dL for preschoolers and < 12.0 g/dL for school-aged children. Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (AuBC), and Aberrant Behavior Checklist (AbBC) were used to evaluate the severity of autistic symptoms and behavioral problems. Categorical variables were compared by using chi-square test. Normally distributed parametric variables were compared between groups by using Independent Samples t test. Pearson's correlation analysis was used in order to examine the correlations. The p value < 0.05 was accepted to be statistically significant. RESULTS: Hemoglobin, hematocrit, iron, and MCV (p < 0.05) levels of children with ASD were lower than healthy controls. Hemoglobin, hematocrit, and MCV (p < 0.05) levels were found to be significantly lower in preschool ASD patients. Hemoglobin and hematocrit (p < 0.05) levels were significantly lower in ASD patients with intellectual disability. Hemoglobin (p < 0.05) levels were lower in patients with severe ASD. There was a significant negative correlation between hematocrit levels of children with ASD and CARS, AuBC, and AbBC total scores (p < 0.05). CONCLUSIONS: Hemoglobin levels of children with ASD were lower than healthy children, but this was not sufficient to result in anemia. IDA in children with ASD might be associated with intellectual disability instead of ASD symptom severity. Lien vers le texte intégral (Open Access ou abonnement)
10. Hara Y, Ago Y, Higuchi M, Hasebe S, Nakazawa T, Hashimoto H, Matsuda T, Takuma K. {{Oxytocin attenuates deficits in social interaction but not recognition memory in a prenatal valproic acid-induced mouse model of autism}}. {Horm Behav}. 2017.
Recent studies have reported that oxytocin ameliorates behavioral abnormalities in both animal models and individuals with autism spectrum disorders (ASD). However, the mechanisms underlying the ameliorating effects of oxytocin remain unclear. In this study, we examined the effects of intranasal oxytocin on impairments in social interaction and recognition memory in an ASD mouse model in which animals are prenatally exposed to valproic acid (VPA). We found that a single intranasal administration of oxytocin restored social interaction deficits for up to 2h in mice prenatally exposed to VPA, but there was no effect on recognition memory impairments. Additionally, administration of oxytocin across 2weeks improved prenatal VPA-induced social interaction deficits for at least 24h. In contrast, there were no effects on the time spent sniffing in control mice. Immunohistochemical analysis revealed that intranasal administration of oxytocin increased c-Fos expression in the paraventricular nuclei (PVN), prefrontal cortex, and somatosensory cortex, but not the hippocampal CA1 and CA3 regions of VPA-exposed mice, suggesting the former regions may underlie the effects of oxytocin. These findings suggest that oxytocin attenuates social interaction deficits through the activation of higher cortical areas and the PVN in an ASD mouse model.
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11. Hedges SH, Odom SL, Hume K, Sam A. {{Technology use as a support tool by secondary students with autism}}. {Autism}. 2017: 1362361317717976.
The purpose of this study was to examine how secondary students with autism spectrum disorder use technology in supportive ways. In this self-report survey study, 472 adolescents with autism spectrum disorder enrolled in high school described the forms of technology they use and purposes for which they use it. Students reported the benefits as well as barriers to technology use at school. They reported using technology in school and home settings in a variety of supportive ways such as increasing their independence, reducing their anxiety, and increasing their social opportunities. Findings suggest that practitioners may benefit from learning how to integrate technology as an instructional and support tool for their students with autism spectrum disorder. Recommendations for future research are provided.
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12. Hegarty JP, 2nd, Gu M, Spielman DM, Cleveland SC, Hallmayer JF, Lazzeroni LC, Raman MM, Frazier TW, Phillips JM, Reiss AL, Hardan AY. {{A proton MR spectroscopy study of the thalamus in twins with autism spectrum disorder}}. {Prog Neuropsychopharmacol Biol Psychiatry}. 2017.
Multiple lines of research have reported thalamic abnormalities in individuals with autism spectrum disorder (ASD) that are associated with social communication impairments (SCI), restricted and repetitive behaviors (RRB), or sensory processing abnormalities (SPA). Thus, the thalamus may represent a common neurobiological structure that is shared across symptom domains in ASD. Same-sex monozygotic (MZ) and dizygotic (DZ) twin pairs with and without ASD underwent cognitive/behavioral evaluation and magnetic resonance imaging to assess the thalamus. Neurometabolites were measured with 1H magnetic resonance spectroscopy (MRS) utilizing a multi-voxel PRESS sequence and were referenced to creatine+phosphocreatine (tCr). N-acetyl aspartate (NAA), a marker of neuronal integrity, was reduced in twins with ASD (n=47) compared to typically-developing (TD) controls (n=33), and this finding was confirmed in a sub-sample of co-twins discordant for ASD (n=11). NAA in the thalamus was correlated to a similar extent with SCI, RRB, and SPA, such that reduced neuronal integrity was associated with greater symptom severity. Glutamate+glutamine (Glx) was also reduced in affected versus unaffected co-twins. Additionally, NAA and Glx appeared to be primarily genetically-mediated, based on comparisons between MZ and DZ twin pairs. Thus, thalamic abnormalities may be influenced by genetic susceptibility for ASD but are likely not domain-specific.
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13. Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N. {{Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder}}. {Sci Rep}. 2017; 7(1): 12096.
Chromosomal microarray (CMA) is now recognized as the first-tier genetic test for detection of copy number variations (CNVs) in patients with autism spectrum disorder (ASD). The aims of this study were to identify known and novel ASD associated-CNVs and to evaluate the diagnostic yield of CMA in Thai patients with ASD. The Infinium CytoSNP-850K BeadChip was used to detect CNVs in 114 Thai patients comprised of 68 retrospective ASD patients (group 1) with the use of CMA as a second line test and 46 prospective ASD and developmental delay patients (group 2) with the use of CMA as the first-tier test. We identified 7 (6.1%) pathogenic CNVs and 22 (19.3%) variants of uncertain clinical significance (VOUS). A total of 29 patients with pathogenic CNVs and VOUS were found in 22% (15/68) and 30.4% (14/46) of the patients in groups 1 and 2, respectively. The difference in detected CNV frequencies between the 2 groups was not statistically significant (Chi square = 1.02, df = 1, P = 0.31). In addition, we propose one novel ASD candidate gene, SERINC2, which warrants further investigation. Our findings provide supportive evidence that CMA studies using population-specific reference databases in underrepresented populations are useful for identification of novel candidate genes.
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14. Hotier S, Leroy F, Boisgontier J, Laidi C, Mangin JF, Delorme R, Bolognani F, Czech C, Bouquet C, Toledano E, Bouvard M, Petit J, Mishchenko M, d’Albis MA, Gras D, Gaman A, Scheid I, Leboyer M, Zalla T, Houenou J. {{Social cognition in autism is associated with the neurodevelopment of the posterior superior temporal sulcus}}. {Acta Psychiatr Scand}. 2017.
OBJECTIVE: The posterior superior temporal sulcus (pSTS) plays a critical role in the ‘social brain’. Its neurodevelopment and relationship with the social impairment in autism spectrum disorders (ASD) are not well understood. We explored the relationship between social cognition and the neurodevelopment of the pSTS in ASD. METHOD: We included 44 adults with high-functioning ASD and 36 controls. We assessed their performances on the ‘Reading the mind in the eyes’ test (for 34 of 44 subjects with ASD and 30 of 36 controls), their fixation time on the eyes with eye tracking (for 35 of 44 subjects with ASD and 30 of 36 controls) and the morphology of the caudal branches of the pSTS (length and depth), markers of the neurodevelopment, with structural MRI. RESULTS: The right anterior caudal ramus of the pSTS was significantly longer in patients with ASD compared with controls (52.6 mm vs. 38.3 mm; P = 1.4 x 10-3 ; Cohen’s d = 0.76). Its length negatively correlated with fixation time on the eyes (P = 0.03) in the ASD group and with the ‘Reading the mind in the eyes’ test scores in both groups (P = 0.03). CONCLUSION: Our findings suggest that the neurodevelopment of the pSTS is related to the ASD social impairments.
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15. Hsiao YJ, Higgins K, Pierce T, Whitby PJS, Tandy RD. {{Parental stress, family quality of life, and family-teacher partnerships: Families of children with autism spectrum disorder}}. {Res Dev Disabil}. 2017; 70: 152-62.
BACKGROUND: Reducing parental stress and improving family quality of Life (FQOL) are continuing concerns for families of children with autism spectrum disorder (ASD). Family-teacher partnerships have been identified as a positive factor to help parents reduce their stress and improve their FQOL. However, the interrelations among parental stress, FQOL, and family-teacher partnerships need to be further examined so as to identify the possible paths to help parents reduce their stress and improve their FQOL. The purpose of this study was to examine the interrelations among these three variables. METHOD: A total of 236 parents of school children with ASD completed questionnaires, which included three measures: (a) the Beach Center Family Quality of Life Scale, (b) the Parental Stress Scale, and (c) the Beach Center Family-Professional Partnerships Scale. The structural equation modeling was used to analyze the interrelations among these three variables. RESULTS: Perceived parental stress had a direct effect on parental satisfaction concerning FQOL and vice versa. Perceived family-teacher partnerships had a direct effect on FQOL, but did not have a direct effect on parental stress. However, family-teacher partnerships had an indirect effect on parental stress through FQOL. CONCLUSIONS AND IMPLICATIONS: Reducing parental stress could improve FQOL for families of children with ASD and vice versa. Strong family-teacher partnerships could help parents of children with ASD improve their FQOL and indirectly reduce their stress.
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16. Hwang S, Kim YS, Koh YJ, Leventhal BL. {{Autism Spectrum Disorder and School Bullying: Who is the Victim? Who is the Perpetrator?}}. {J Autism Dev Disord}. 2017.
While a growing number of studies indicate associations between experiences of bullying and autism spectrum disorder (ASD), it is not clear what roles comorbid behavioral problems may play. We investigated the experiences of children with ASD as victims and/or perpetrators of bullying. Children with ASD epidemiologically ascertained participated in a cross-sectional study. Although children with ASD showed significantly increased risk for bullying involvement compared to community children, after controlling for comorbid psychopathology and other demographic factors, increased risks for being perpetrators or victim-perpetrators disappeared while risk for being bullied/teased continued to be significantly elevated. This finding will help guide medical, educational and community personnel to effectively identify children with ASD at risk for school bullying and develop interventions.
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17. Ichikawa H, Hiratani M, Yasuhara A, Tsujii N, Oshimo T, Ono H, Tadori Y. {{An open-label extension long-term study of the safety and efficacy of aripiprazole for irritability in children and adolescents with autistic disorder in Japan}}. {Psychiatry Clin Neurosci}. 2017.
AIMS: The purpose of this study was to evaluate the long-term safety and efficacy of aripiprazole in treating irritability in pediatric patients (6-17 years) with autistic disorder (AD) in Japan. METHODS: In this open-label extension study, patients who completed a previous randomized, double-blind, placebo-controlled 8-week study were enrolled and were flexibly dosed with aripiprazole (1-15 mg/day) until the new indication of irritability in pediatric autism spectrum disorder was approved in Japan. RESULTS: Seventy (81%) out of 86 enrolled patients completed week 48 assessments. The mean duration of treatment was 694.9 days. The mean daily dose of aripiprazole over the treatment period was 7.2 mg and the mean of the final dose was 8.5 mg. The most common treatment-emergent adverse events (TEAEs) (>/=20%) included nasopharyngitis, somnolence, influenza, and weight increased. The majority of these TEAEs were mild or moderate in severity, and there were no deaths, and no clinically relevant findings in laboratory values except prolactin decrease, vital signs, height, or ECG parameters. At week 48 (observed case), the mean change from baseline in Aberrant Behavior Checklist Japanese Version irritability subscale score was -6.3 in prior placebo patients and -2.6 in prior aripiprazole patients. CONCLUSIONS: Aripiprazole was generally safe, well tolerated and effective in the long-term treatment of irritability associated with AD in Japanese pediatric patients. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov (identifier: NCT01617460).
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18. Jones CRG, Simonoff E, Baird G, Pickles A, Marsden AJS, Tregay J, Happe F, Charman T. {{The association between theory of mind, executive function, and the symptoms of autism spectrum disorder}}. {Autism Res}. 2017.
It has been strongly argued that atypical cognitive processes in autism spectrum disorder (ASD) contribute to the expression of behavioural symptoms. Comprehensive investigation of these claims has been limited by small and unrepresentative sample sizes and the absence of wide-ranging task batteries. The current study investigated the cognitive abilities of 100 adolescents with ASD (mean age = 15 years 6 months), using 10 tasks to measure the domains of theory of mind (ToM) and executive function (EF). We used structural equation modelling as a statistically robust way of exploring the associations between cognition and parent-reported measures of social communication and restricted and repetitive behaviours (RRBs). We found that ToM ability was associated with both social communication symptoms and RRBs. EF was a correlate of ToM but had no direct association with parent-reported symptom expression. Our data suggest that in adolescence ToM ability, but not EF, is directly related to autistic symptom expression. Autism Res 2017. (c) 2017 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The behaviours that are common to autism spectrum disorder (ASD) have been linked to differences in thinking ability. We assessed autistic adolescents and found that social communication difficulties and the presence of restricted and repetitive behaviours related to difficulties in understanding other peoples’ minds (theory of mind). In contrast, these behaviours were not associated with the general thinking abilities involved in planning and executing tasks (executive function).
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19. Keshav NU, Salisbury JP, Vahabzadeh A, Sahin NT. {{Social Communication Coaching Smartglasses: Well Tolerated in a Diverse Sample of Children and Adults With Autism}}. {JMIR Mhealth Uhealth}. 2017; 5(9): e140.
BACKGROUND: Augmented reality (AR) smartglasses are an emerging technology that is under investigation as a social communication aid for children and adults with autism spectrum disorder (ASD) and as a research tool to aid with digital phenotyping. Tolerability of this wearable technology in people with ASD is an important area for research, especially as these individuals may experience sensory, cognitive, and attentional challenges. OBJECTIVE: The aim of this study was to assess the tolerability and usability of a novel smartglasses system that has been designed as a social communication aid for children and adults with autism (the Brain Power Autism System [BPAS]). BPAS runs on Google Glass Explorer Edition and other smartglasses, uses both AR and affective artificial intelligence, and helps users learn key social and emotional skills. METHODS: A total of 21 children and adults with ASD across a spectrum of severity used BPAS for a coaching session. The user’s tolerability to the smartglasses, user being able to wear the smartglasses for 1 minute (initial tolerability threshold), and user being able to wear the smartglasses for the entire duration of the coaching session (whole session tolerability threshold) were determined through caregiver report. RESULTS: Of 21 users, 19 (91%) demonstrated tolerability on all 3 measures. Caregivers reported 21 out of 21 users (100%) as tolerating the experience, while study staff found only 19 out of 21 users managed to demonstrate initial tolerability (91%). Of the 19 users who demonstrated initial tolerability, all 19 (100%) were able to use the smartglasses for the entire session (whole session tolerability threshold). Caregivers reported that 19 out of 21 users (91%) successfully used BPAS, and users surpassed caregiver expectations in 15 of 21 cases (71%). Users who could communicate reported BPAS as being comfortable (94%). CONCLUSIONS: This preliminary report suggests that BPAS is well tolerated and usable to a diverse age- and severity-range of people with ASD. This is encouraging as these devices are being developed as assistive technologies for people with ASD. Further research should focus on improving smartglasses design and exploring their efficacy in helping with social communication in children and adults with ASD.
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20. Lanphear NE. {{Autism Diagnosis: The Local Context Matters}}. {J Dev Behav Pediatr}. 2017.
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21. Liu J, Liu X, Xiong XQ, Yang T, Cui T, Hou NL, Lai X, Liu S, Guo M, Liang XH, Cheng Q, Chen J, Li TY. {{Effect of vitamin A supplementation on gut microbiota in children with autism spectrum disorders – a pilot study}}. {BMC Microbiol}. 2017; 17(1): 204.
BACKGROUND: Dysbiosis of gut microbiota are commonly reported in autism spectrum disorder (ASD) and may contribute to behavioral impairment. Vitamin A (VA) plays a role in regulation of gut microbiota. This study was performed to investigate the role of VA in the changes of gut microbiota and changes of autism functions in children with ASD. RESULTS: Sixty four, aged 1 to 8 years old children with ASD completed a 6-month follow-up study with VA intervention. High-performance liquid chromatography was used to assess plasma retinol levels. The Autism Behaviour Checklist (ABC), Childhood Autism Rating Scale (CARS) and Social Responsiveness Scale (SRS) were used to assess autism symptoms. CD38 and acid-related orphan receptor alpha (RORA) mRNA levels were used to assess autism-related biochemical indicators’ changes. Evaluations of plasma retinol, ABC, CARS, SRS, CD38 and RORA mRNA levels were performed before and after 6 months of intervention in the 64 children. Illumina MiSeq for 16S rRNA genes was used to compare the differences in gut microbiota before and after 6 months of treatment in the subset 20 of the 64 children. After 6 months of intervention, plasma retinol, CD38 and RORA mRNA levels significantly increased (all P < 0.05); the scores of ABC, CARS and SRS scales showed no significant differences (all P > 0.05) in the 64 children. Meanwhile, the proportion of Bacteroidetes/Bacteroidales significantly increased and the proportion of Bifidobacterium significantly decreased in the subgroup of 20 (all false discovery rate (FDR) q < 0.05). CONCLUSIONS: Bacteroidetes/Bacteroidales were the key taxa related to VA. Moreover, VA played a role in the changes in autism biomarkers. It remains unclear whether the VA concentration is associated with autism symptoms. TRIAL REGISTRATION: The study protocol was peer reviewed and approved by the institutional review board of Children's Hospital, Chongqing Medical University in 2013 and retrospectively registered in Chinese Clinical Trial Registry (ChiCTR) on November 6, 2014 (TRN: ChiCTR-ROC-14005442 ). Lien vers le texte intégral (Open Access ou abonnement)
22. Mossler K, Gold C, Assmus J, Schumacher K, Calvet C, Reimer S, Iversen G, Schmid W. {{The Therapeutic Relationship as Predictor of Change in Music Therapy with Young Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
This study examined whether the therapeutic relationship in music therapy with children with Autism Spectrum Disorder predicts generalized changes in social skills. Participants (4-7 years, N = 48) were assessed at baseline, 5 and 12 months. The therapeutic relationship, as observed from session videos, and the generalized change in social skills, as judged by independent blinded assessors and parents, were evaluated using standardized tools (Assessment of the Quality of Relationship; ADOS; SRS). Linear mixed effect models showed significant interaction effects between the therapeutic relationship and several outcomes at 5 and 12 months. We found the music therapeutic relationship to be an important predictor of the development of social skills, as well as communication and language specifically.
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23. Nadeem A, Ahmad SF, Attia SM, Bakheet SA, Al-Harbi NO, Al-Ayadhi LY. {{Activation of IL-17 receptor leads to increased oxidative inflammation in peripheral monocytes of autistic children}}. {Brain Behav Immun}. 2017.
Millions of children are affected by different neurodevelopmental disorders, out of which autism spectrum disorder (ASD) poses a major hurdle to normal life style due to associated behavioral abnormalities. Several studies have shown an increased expression/release of Th17 related cytokine, IL-17A in ASD. IL-17A may enhance neuroinflammation via its IL-17A receptor, i.e. IL-17RA expressed in immune cells (such as monocytes) of autistic children. Increased oxidative stress has been implicated in a number of neuropsychiatric disorders including ASD. However, whether IL-17A/IL-17RA signaling contributes to oxidative inflammation in monocytes of autistic children has not been explored previously. With this background, we performed this study in peripheral monocytes of ASD patients and age-matched typically developing children. Our study shows that ASD individuals have increased IL-17RA expression in monocytes which is associated with increased nuclear factor kappa-light-chain-enhancer of activated B cells (NFkappaB) pathway and inducible nitric oxide synthase (iNOS)/nitrotyrosine expression as compared to typically developing children. Moreover, in vitro activation of IL-17 receptor by IL-17A in monocytes isolated from ASD individuals leads to enhanced iNOS expression via NFkappaB pathway. IL-17RA antibody treatment in vitro reversed IL-17A-induced increase in NFkappaB and iNOS/nitrotyrosine expression in monocytes isolated from ASD subjects. These data connect increased IL-17A/IL-17RA signaling in ASD patients with enhanced oxidative inflammation in monocytes. Therefore, IL-17 receptor signaling in monocytes may potentiate the effects of IL-17A released by other immune cells and may aggravate neuroinflammation in ASD. Our study further suggests that blockade of IL-17A/IL-17 receptor signaling may be beneficial in the children with ASD.
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24. Ozbaran B, Akgun B, Kacamak D, Kose S, Kavasoglu A, Onay H. {{[The Role of Molecular Karyotyping in the Genetic Etiology of Autism]}}. {Turk Psikiyatri Derg}. 2017; 28(3): 156-62.
OBJECTIVE: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. METHOD: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale. Blood samples (EDTA collected) were obtained in order to extract DNA. Whole genome molecular karyotyping analyses were performed with Illumina IScan system by chips, which can scan 330.000 Single Nucleotid Polymorphisms (SNPs) to detect structural anomalies with a 10-kb resolution. RESULTS: All patients had copy number variations (CNV) that sized between 20-kb and 3-Mb. All detected CNVs were analyzed by the help of KaryoStudio software and DGV database. The ones which might be causal and pathogenic were selected. Pathogenic CNVs (7 deletions, 2 duplications) were detected in 9 patients (29%). CONCLUSION: As a result, this is the first study whereby a molecular karyotyping technique was successfully used in autism patients in Turkey. Moreover, an intermediate resolution of 330.000 SNP chips were proven to be efficient for molecular karyotyping analysis.
25. Parellada M, Llorente C, Calvo R, Gutierrez S, Lazaro L, Graell M, Guisasola M, Dorado ML, Boada L, Romo J, Dulin E, Sanz I, Arango C, Moreno C. {{Randomized trial of omega-3 for autism spectrum disorders: Effect on cell membrane composition and behavior}}. {Eur Neuropsychopharmacol}. 2017.
A high omega6/omega3 ratio [fatty acid (FA) index] in the cell membrane has been associated with inadequate brain development. It has started to be used as a biomarker of treatment efficacy in human diseases. The aim of this study was to investigate if omega-3 supplementation improves erythrocyte membrane omega6/omega3, plasma antioxidant status (TAS) and autistic behaviors. A randomized, crossover, placebo-controlled study was designed to investigate the effect of 8 weeks of supplementation with omega3 (962mg/d and 1155mg/d for children and adolescents, respectively). Sixty-eight children and adolescents with Autism Spectrum Disorders (ASD) completed the full protocol. Primary outcome measures were erythrocyte membrane FA composition and TAS. Secondary outcome measures were Social Responsiveness Scale and Clinical Global Impression-Severity. Treatment with omega3 improved the erythrocyte membrane omega6/omega3 ratio (treatment effect p<0.008, d=0.66; within subjects effect p<0.007, d=0.5) without changing TAS. There was a within subjects significant improvement in Social Motivation and Social Communication subscales scores, with a moderate to large effect size (p=0.004, d=0.73 and p=0.025, d=0.79 respectively), but no treatment effect (treatment-placebo order). Carryover effects cannot be discarded as responsible for the results in behavioral measures. In conclusion, supplementation with omega3 FA might be studied as an add-on to behavioral therapies in ASD. Optimal duration of treatment requires further investigation. With regard to side effects, the effect of this supplementation on the lipid profile needs monitoring. Lien vers le texte intégral (Open Access ou abonnement)
26. Penner M, King GA, Hartman L, Anagnostou E, Shouldice M, Hepburn CM. {{Community General Pediatricians’ Perspectives on Providing Autism Diagnoses in Ontario, Canada: A Qualitative Study}}. {J Dev Behav Pediatr}. 2017.
OBJECTIVE: Community general pediatricians (CGPs) are a potential resource to increase capacity for autism spectrum disorder (ASD) diagnostic assessments. The objective of this study was to explore factors influencing CGPs’ perspectives on and practices of providing ASD diagnoses. METHODS: This qualitative study used a constructivist modified grounded theory approach. Participants included CGPs who had attended ASD educational events or had referred a child with suspected ASD to a tertiary rehabilitation center. Individual in-depth interviews with CGPs were recorded, transcribed, and coded. An explanatory framework was developed from the data. A summary of the framework was sent to participants, and responses indicated that no changes were needed. RESULTS: Eleven CGPs participated. Assessment for ASD consists of 3 stages: (1) determining the diagnosis; (2) communicating the diagnosis; and (3) managing next steps after diagnosis. Each of these stages of ASD diagnostic assessment exists within an ecological context of child/family factors, personal CGP factors, and contextual/systems factors that all influence diagnostic decision making. CONCLUSION: Community general pediatrician ASD diagnostic capacity must be considered within the larger context of ASD care. Suggestions to improve diagnostic capacity include preparing families for the diagnosis, changing CGP perceptions of ASD, providing community-based training, improving financial remuneration, and providing service navigation. Further study is needed to ensure that CGPs are providing accurate, high-quality assessments.This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
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27. Piven J, Elison JT, Zylka MJ. {{Toward a conceptual framework for early brain and behavior development in autism}}. {Mol Psychiatry}. 2017; 22(10): 1385-94.
Studies of infant siblings of older autistic probands, who are at elevated risk for autism, have demonstrated that the defining features of autism are not present in the first year of life but emerge late in the first and into the second year. A recent longitudinal neuroimaging study of high-risk siblings revealed a specific pattern of brain development in infants later diagnosed with autism, characterized by cortical surface area hyper-expansion in the first year followed by brain volume overgrowth in the second year that is associated with the emergence of autistic social deficits. Together with new observations from genetically defined autism risk alleles and rodent model, these findings suggest a conceptual framework for the early, post-natal development of autism. This framework postulates that an increase in the proliferation of neural progenitor cells and hyper-expansion of cortical surface area in the first year, occurring during a pre-symptomatic period characterized by disrupted sensorimotor and attentional experience, leads to altered experience-dependent neuronal development and decreased elimination of neuronal processes. This process is linked to brain volume overgrowth and disruption of the refinement of neural circuit connections and is associated with the emergence of autistic social deficits in the second year of life. A better understanding of the timing of developmental brain and behavior mechanisms in autism during infancy, a period which precedes the emergence of the defining features of this disorder, will likely have important implications for designing rational approaches to early intervention.
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28. Silva RA, Debert P. {{Go/no-go procedure with compound stimuli with children with autism}}. {J Appl Behav Anal}. 2017.
The go/no-go with compound stimuli is an alternative to matching-to-sample to produce conditional and emergent relations in adults. The aim of this study was to evaluate the effectiveness of this procedure with two children diagnosed with autism. We trained and tested participants to respond to conditional relations among arbitrary stimuli using the go/no-go procedure. Both learned all the trained conditional relations without developing response bias or responding to no-go trials. Participants demonstrated performance consistent with symmetry, but not equivalence.
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29. Sragovich S, Merenlender-Wagner A, Gozes I. {{ADNP Plays a Key Role in Autophagy: From Autism to Schizophrenia and Alzheimer’s Disease}}. {Bioessays}. 2017.
Activity-dependent neuroprotective protein (ADNP), discovered in our laboratory in 1999, has been characterized as a master gene vital for mammalian brain formation. ADNP de novo mutations in humans result in a syndromic form of autism-like spectrum disorder (ASD), including cognitive and motor deficits, the ADNP syndrome (Helsmoortel-Van Der Aa). One of the most important cellular processes associated with ADNP is the autophagy pathway, recently discovered by us as a key player in the pathophysiology of schizophrenia. In this regard, given the link between the microtubule and autophagy systems, the ADNP microtubule end binding protein motif, namely, the neuroprotective NAP (NAPVSIPQ), was found to enhance autophagy while protecting microtubules and augmenting ADNP’s association with both systems. Thus, linking autophagy and ADNP is proposed as a major target for intervention in brain diseases from autism to Alzheimer’s disease (AD) and our findings introduce autophagy as a possible novel target for treating schizophrenia.
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30. Vernetti A, Senju A, Charman T, Johnson MH, Gliga T. {{Simulating interaction: Using gaze-contingent eye-tracking to measure the reward value of social signals in toddlers with and without autism}}. {Dev Cogn Neurosci}. 2017.
Several accounts have been proposed to explain difficulties with social interaction in autism spectrum disorder (ASD), amongst which atypical social orienting, decreased social motivation or difficulties with understanding the regularities driving social interaction. This study uses gaze-contingent eye-tracking to tease apart these accounts by measuring reward related behaviours in response to different social videos. Toddlers at high or low familial risk for ASD took part in this study at age 2 and were categorised at age 3 as low risk controls (LR), high-risk with no ASD diagnosis (HR-no ASD), or with a diagnosis of ASD (HR-ASD). When the on-demand social interaction was predictable, all groups, including the HR-ASD group, looked longer and smiled more towards a person greeting them compared to a mechanical Toy (Condition 1) and also smiled more towards a communicative over a non-communicative person (Condition 2). However, all groups, except the HR-ASD group, selectively oriented towards a person addressing the child in different ways over an invariant social interaction (Condition 3). These findings suggest that social interaction is intrinsically rewarding for individuals with ASD, but the extent to which it is sought may be modulated by the specific variability of naturalistic social interaction.
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31. Waye MMY, Cheng HY. {{Genetics and Epigenetics of Autism (Review)}}. {Psychiatry Clin Neurosci}. 2017.
Autism is a developmental disorder that starts before age 3, and children with autism has impairment in both social interaction and communication, and has restricted, repetitive and stereotyped patterns of behavior, interests and activities. There is a strong heritable component of autism and autism spectrum disorder as studies have shown that parents who have a child with ASD have a 2-18% chance of having a second child with ASD. Since the prevalence of autism and autism spectrum disorders have been increasing during the last 3 decades, much research has been carried out to understand the etiology, so as to develop novel preventive and treatment strategies. This review aims at summarizing the latest research studies related to autism and autism spectrum disorder, focusing not only on the genetics but also some epigenetic findings of autism/autism spectrum disorder. Some promising areas of research using transgenic/knockout animals and some ideas related to potential novel treatment and prevention strategies will be discussed.
