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. Alverson CY, Yamamoto SH. {{VR Employment Outcomes of Individuals with Autism Spectrum Disorders: A Decade in the Making}}. {J Autism Dev Disord}. 2017.
This study utilized hierarchical linear modeling analysis of a 10-year extant dataset from Rehabilitation Services Administration to investigate significant predictors of employment outcomes for vocational rehabilitation (VR) clients with autism. Predictor variables were gender, ethnicity, attained education level, IEP status in high school, secondary disability status, and total number of VR services. Competitive employment was the criterion variable. Only one predictor variable, Total Number of VR Services, was significant across all 10 years. IEP status in high school was not significant in any year. The remaining predictors were significant in one or more years. Further research and implications for researchers and practitioners are included.
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3. 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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4. Bieleninik L, Posserud MB, Geretsegger M, Thompson G, Elefant C, Gold C. {{Tracing the temporal stability of autism spectrum diagnosis and severity as measured by the Autism Diagnostic Observation Schedule: A systematic review and meta-analysis}}. {PLoS One}. 2017; 12(9): e0183160.
BACKGROUND: Exploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms. The objective of this study was to examine the temporal stability of autism spectrum disorder and autism diagnosis, and the longitudinal trajectories of autism core symptom severity. We furthermore sought to identify possible predictors for change. METHODS: We searched PubMed, PsycInfo, EMBASE, Web of Science, Cochrane Library up to October 2015 for prospective cohort studies addressing the autism spectrum disorder/autism diagnostic stability, and prospective studies of intervention effects. We included people of all ages with autism spectrum disorder/autism or at risk of having autism spectrum disorder, who were diagnosed and followed up for at least 12 months using the Autism Diagnostic Observation Schedule (ADOS). Both continuous ADOS scores and dichotomous diagnostic categories were pooled in random-effects meta-analysis and meta-regression. RESULTS: Of 1443 abstracts screened, 44 were eligible of which 40 studies contained appropriate data for meta-analysis. A total of 5771 participants from 7 months of age to 16.5 years were included. Our analyses showed no change in ADOS scores across time as measured by Calibrated Severity Scores (mean difference [MD] = 0.05, 95% CI -0.26 to 0.36). We observed a minor but statistically significant change in ADOS total raw scores (MD = -1.51, 95% CI -2.70 to -0.32). There was no improvement in restricted and repetitive behaviours (standardised MD [SMD] = -0.04, 95% CI -0.19 to 0.11), but a minor improvement in social affect over time (SMD = -0.31, 95% CI -0.50 to -0.12). No changes were observed for meeting the autism spectrum disorder criteria over time (risk difference [RD] = -0.01, 95% CI -0.03 to 0.01), but a significant change for meeting autism criteria over time (RD = -0.18, 95% CI -0.29 to -0.07). On average, there was a high heterogeneity between studies (I2 range: 65.3% to 93.1%). DISCUSSION: While 18% of participants shifted from autism to autism spectrum disorder diagnosis, the overall autism spectrum disorder prevalence was unchanged. Overall autism core symptoms were remarkably stable over time across childhood indicating that intervention studies should focus on other areas, such as quality of life and adaptive functioning. However, due to high heterogeneity between studies and a number of limitations in the studies, the results need to be interpreted with caution.
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5. 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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6. 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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7. Chen CY, Di Lucente J, Lin YC, Lien CC, Rogawski MA, Maezawa I, Jin LW. {{Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome}}. {Neurobiol Dis}. 2017.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature of RTT. The nucleus tractus solitarius (NTS) is the first central site integrating respiratory sensory information that can change the nature of the reflex output. We hypothesized that deficiency in Mecp2 gene reduces GABAergic neurotransmission in the NTS. Using whole-cell patch-clamp recordings in NTS slices, we measured spontaneous inhibitory postsynaptic currents (sIPSCs), miniature IPSCs (mIPSCs), NTS-evoked IPSCs (eIPSCs), and GABAA receptor (GABAA-R) agonist-induced responses. Compared to those from wild-type mice, NTS neurons from Mecp2-null mice had significantly (p<0.05) reduced sIPSC amplitude, sIPSC frequency, and mIPSC amplitude but not mIPSC frequency. Mecp2-null mice also had decreased eIPSC amplitude with no change in paired-pulse ratio. The data suggest reduced synaptic receptor-mediated phasic GABA transmission in Mecp2-null mice. In contrast, muscimol (GABAA-R agonist, 0.3-100muM) and THIP (selective extrasynaptic GABAA-R agonist, 5muM) induced significantly greater current response in Mecp2-null mice, suggesting increased extrasynaptic receptors. Using qPCR, we found a 2.5 fold increase in the delta subunit of the GABAA-Rs in the NTS in Mecp2-null mice, consistent with increased extrasynaptic receptors. As the NTS was recently found required for respiratory pathology in RTT, our results provide a mechanism for NTS dysfunction which involves shifting the balance of synaptic/extrasynaptic receptors in favor of extrasynaptic site, providing a target for boosting GABAergic inhibition in RTT. Lien vers le texte intégral (Open Access ou abonnement)
8. Chenausky KV, Norton AC, Schlaug G. {{Auditory-Motor Mapping Training in a More Verbal Child with Autism}}. {Front Hum Neurosci}. 2017; 11: 426.
We tested the effect of Auditory-Motor Mapping Training (AMMT), a novel, intonation-based treatment for spoken language originally developed for minimally verbal (MV) children with autism, on a more-verbal child with autism. We compared this child’s performance after 25 therapy sessions with that of: (1) a child matched on age, autism severity, and expressive language level who received 25 sessions of a non-intonation-based control treatment Speech Repetition Therapy (SRT); and (2) a matched pair of MV children (one of whom received AMMT; the other, SRT). We found a significant Time x Treatment effect in favor of AMMT for number of Syllables Correct and Consonants Correct per stimulus for both pairs of children, as well as a significant Time x Treatment effect in favor of AMMT for number of Vowels Correct per stimulus for the more-verbal pair. Magnitudes of the difference in post-treatment performance between AMMT and SRT, adjusted for Baseline differences, were: (a) larger for the more-verbal pair than for the MV pair; and (b) associated with very large effect sizes (Cohen’s d > 1.3) in the more-verbal pair. Results hold promise for the efficacy of AMMT for improving spoken language production in more-verbal children with autism as well as their MV peers and suggest hypotheses about brain function that are testable in both correlational and causal behavioral-imaging studies.
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9. Cidav Z, Xie M, Mandell DS. {{Foster Care Involvement Among Medicaid-Enrolled Children with Autism}}. {J Autism Dev Disord}. 2017.
The prevalence and risk of foster care involvement among children with autism spectrum disorder (ASD) relative to children with intellectual disability (ID), children with ASD and ID, and typically developing children were examined using 2001-2007 Medicaid data. Children were followed up to the first foster care placement or until the end of 2007; a discrete time logistic regression analysis was conducted. Both the prevalence and risk of foster care involvement were greatest for children with ASD, and the prevalence increased substantially over the study period among children with ASD. Continued examination of the factors contributing to the higher risk of foster placement is warranted to unravel the complex circumstances facing these vulnerable children and their families.
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10. Di Cesare G, Sparaci L, Pelosi A, Mazzone L, Giovagnoli G, Menghini D, Ruffaldi E, Vicari S. {{Differences in Action Style Recognition in Children with Autism Spectrum Disorders}}. {Front Psychol}. 2017; 8: 1456.
Vitality form is a term, originally introduced by Stern (2010), to describe « how » an action is performed. The capacity to perceive the vitality form of others’ actions is a fundamental element of social interactions and a basic way of relating to and understanding others’ behaviors. Although vitality forms characterize all human interactions, few studies have addressed their role in social and communicative disorders such as autism. The aim of the present study is to evaluate the ability to recognize different vitality forms during the observation of different motor actions in a group of children with autism spectrum disorders (ASD) compared to typically developing controls (TD). Results show a significant difference between children with ASD and TD in vitality forms recognition. This finding sheds new light on how children with ASD understand others’ actions providing new ideas on overall social understanding as well as useful insights for professionals and caregivers alike.
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11. Durkin MS, Maenner MJ, Baio J, Christensen D, Daniels J, Fitzgerald R, Imm P, Lee LC, Schieve LA, Van Naarden Braun K, Wingate MS, Yeargin-Allsopp M. {{Autism Spectrum Disorder Among US Children (2002-2010): Socioeconomic, Racial, and Ethnic Disparities}}. {Am J Public Health}. 2017: e1-e9.
OBJECTIVES: To describe the association between indicators of socioeconomic status (SES) and the prevalence of autism spectrum disorder (ASD) in the United States during the period 2002 to 2010, when overall ASD prevalence among children more than doubled, and to determine whether SES disparities account for ongoing racial and ethnic disparities in ASD prevalence. METHODS: We computed ASD prevalence and 95% confidence intervals (CIs) from population-based surveillance, census, and survey data. We defined SES categories by using area-level education, income, and poverty indicators. We ascertained ASD in 13 396 of 1 308 641 8-year-old children under surveillance. RESULTS: The prevalence of ASD increased with increasing SES during each surveillance year among White, Black, and Hispanic children. The prevalence difference between high- and low-SES groups was relatively constant over time (3.9/1000 [95% CI = 3.3, 4.5] in 2002 and 4.1/1000 [95% CI = 3.6, 4.6] in the period 2006-2010). Significant racial/ethnic differences in ASD prevalence remained after stratification by SES. CONCLUSIONS: A positive SES gradient in ASD prevalence according to US surveillance data prevailed between 2002 and 2010, and racial and ethnic disparities in prevalence persisted during this time among low-SES children. (Am J Public Health. Published online ahead of print September 21, 2017: e1-e9. doi:10.2105/AJPH.2017.304032).
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12. Gomez L, Vidal B, Maragoto C, Morales LM, Berrillo S, Vera Cuesta H, Baez M, Denis M, Marin T, Cabrera Y, Sanchez A, Alarcon C, Selguera M, Llanez Y, Dieguez L, Robinson M. {{Non-Invasive Brain Stimulation for Children with Autism Spectrum Disorders: A Short-Term Outcome Study}}. {Behav Sci (Basel)}. 2017; 7(3).
Non-Invasive Brain Stimulation (NIBS) is a relatively new therapeutic approach that has shown beneficial effects in Autism Spectrum Disorder (ASD). One question to be answered is how enduring its neuromodulatory effect could be. Twenty-four patients with ASD (mean age: 12.2 years) received 20 sessions of NIBS over the left dorsolateral prefrontal cortex (L-DLPFC). They were randomized into two groups with two (G1) or three (G2) clinical evaluations before NIBS. Both groups had a complete follow-up at six months after the intervention, with the aim of determining the short-term outcome using the total score on the Autism Behavior Checklist, Autism Treatment Evaluation Checklist, and the Autism Diagnostic Interview. Transcranial Direct Current Stimulation (tDCS) was used in ASD patients aged <11 years, and repetitive Transcranial Magnetic Stimulation (rTMS) for 11-13-year-olds. Observation points were at one, three, and six months after completing all the sessions of NIBS. A significant reduction in the total score on the three clinical scales was observed and maintained during the first six months after treatment, with a slight and non-significant tendency to increase the scores in the last evaluation. Twenty sessions of NIBS over the L-DLPFC improves autistic symptoms in ASD children, with a lasting effect of six months. Lien vers le texte intégral (Open Access ou abonnement)
13. 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)
14. Hebron JS. {{School connectedness and the primary to secondary school transition for young people with autism spectrum conditions}}. {Br J Educ Psychol}. 2017.
BACKGROUND: Young people with autism spectrum conditions (ASC) face many educational challenges, particularly in terms of academic achievement, social inclusion, and mental health. School connectedness is linked to many positive outcomes and may be of particular salience at the primary-secondary school transition, when young people with ASC are expected to cope in new and unfamiliar settings. AIMS: This study explores for the first time school connectedness across the primary to secondary school transition for young people with ASC. SAMPLE: Twenty-eight students with ASC (23 male, five female) and a comparison group of 21 students with no additional needs (16 male, five female) participated. METHODS: A longitudinal design was used to measure school connectedness across transition at four time-points from the end of primary school, into the first and second years of secondary school. Students completed the Psychological Sense of School Membership (Goodenow, 1993, Psychology in the Schools, 30, 79) questionnaire at each time-point, with responses analysed statistically. RESULTS: Students with ASC reported positive levels of school connectedness across transition, although their scores remained lower than those of their typically developing peers. The gap between the two groups narrowed significantly during the first year of secondary school, with students in the ASC group reporting improving levels of school connectedness, although there were non-significant signs of a decline for both groups in the second year. CONCLUSIONS: Transition can be a positive experience for students with ASC. However, their consistently lower levels of school connectedness compared to those of their peers highlight the need for ongoing monitoring and support during secondary education.
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15. Hemdi A, Daley D. {{The Effectiveness of a Psychoeducation Intervention delivered via WhatsApp for mothers of children with Autism Spectrum Disorder (ASD) in the Kingdom of Saudi Arabia: A randomized controlled trial}}. {Child Care Health Dev}. 2017.
BACKGROUND: Mothers of children with autism spectrum disorder (ASD) report high levels of stress and lower levels of well-being than parents of typically developing children. Current interventions for ASD typically focus on working with the child rather than delivering strategies to help support parents. OBJECTIVE: To evaluate the effectiveness of a psychoeducation intervention developed to support mothers of children with ASD in Saudi Arabia. METHOD: Sixty-two mothers (23-52 years) of children (26-78 months) were recruited to a multisite randomized controlled trials of the intervention. The intervention consisted of one face-to-face session (60 min) and four virtual sessions (30 min each) delivered using WhatsApp. Parenting stress was the primary outcome, with secondary outcomes focusing on maternal depression, anxiety, and happiness, and child behaviour problems and ASD symptoms. Data were collected at baseline T1, immediately postintervention T2 and 8-week follow-up T3. RESULTS: One-way analysis of covariance was used at T2 and T3 with T1 scores entered as a covariate. Improvements were found at T2 for stress (F = 234.34, p = .00, and d = -1.52) and depression (F = 195.70, p = .00, and d = -2.14) but not anxiety, and these results were maintained at T3. Changes in child behaviour problems were limited to improvements in hyperactivity at T2 (F = 133.66, p = .00, and d = -1.54). Although changes in stress and depression were statistically significant, change to clinically normal levels was limited to depression. None of the participants had recovered after the intervention (Parent Stress Index Short Form stress scores), whereas 23 mothers (71.87%) in the intervention group had recovered at T2 and 22 (68.75%) at T3 (Hospital Anxiety and Depression Scale depression scores). CONCLUSION: This intervention with WhatsApp support is beneficial but may need to be augmented with other forms of support for mothers of children with ASD including more condensed sessions on stress and interventions targeting anxiety.
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16. 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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17. 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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18. Jiraanont P, Kumar M, Tang HT, Espinal G, Hagerman PJ, Hagerman RJ, Chutabhakdikul N, Tassone F. {{Size and methylation mosaicism in males with Fragile X syndrome}}. {Expert Rev Mol Diagn}. 2017.
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles. Four individuals carried a deletion of the CGG repeat and portions of the flanking regions. The extent of methylation among the participants was reflected in the lower FMR1 mRNA and FMRP expression levels detected in these subjects. CONCLUSION: Decreased gene expression is likely the main contributor to the cognitive impairment observed in these subjects; although the presence of a normal allele did not appear to compensate for the presence of the full mutation, it correlated with better cognitive function in some but not all of the reported cases emphasizing the complexity of the molecular and clinical profile in FXS.
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19. Jung M, Tu Y, Lang CA, Ortiz A, Park J, Jorgenson K, Kong XJ, Kong J. {{Decreased structural connectivity and resting-state brain activity in the lateral occipital cortex is associated with social communication deficits in boys with autism spectrum disorder}}. {Neuroimage}. 2017.
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by atypical social communication and repetitive behaviors. In this study, we applied a multimodal approach to investigate brain structural connectivity, resting state activity, and surface area and their associations with the core symptoms of ASD. Data from forty boys with ASD (mean age, 11.5 years; age range, 5.5-19.5) and forty boys with typical development (TD) (mean age, 12.3; age range, 5.8-19.7) were extracted from the Autism Brain Imaging Data Exchange II (ABIDE II) for data analysis. We found significantly decreased structural connectivity, resting state brain activity, and surface area at the occipital cortex in boys with ASD compared to boys with TD. In addition, we also found that resting state brain activity and surface area in the lateral occipital cortex was negatively correlated with communication scores in boys with ASD. Our results suggest that decreased structural connectivity and resting-state brain activity in the occipital cortex may impair the integration of verbal and non-verbal communication cues in boys with ASD, thereby impacting their social development.
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20. 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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21. Montaque I, Dallos R, McKenzie B. {{« It feels like something difficult is coming back to haunt me »: An exploration of ‘meltdowns’ associated with autistic spectrum disorder from a parental perspective}}. {Clin Child Psychol Psychiatry}. 2017: 1359104517730114.
The research explored the experience and understandings expressed by parents of children with autism concerning ‘meltdowns’, which are commonly described as distressing, escalating episodes of conflicts. Semi-structured interviews were conducted with six parents of children with a diagnosis of autism regarding their experience of ‘meltdowns’. Parents were asked to track the process of the meltdowns as well as to describe their experiences. Three over-arching themes emerged which encapsulated their experience: Living in Dread: Anxiety and fear of escalating patterns, Attempting to Correct for Negative Childhood Experiences and Condemnation from the Self and Others. The findings suggested that the meltdowns were perceived as having an escalating and predictable process, that parents anticipated meltdowns with anxiety, experienced feelings of helplessness and felt condemned by others. Importantly, it also appeared that parents’ responses were influenced by their own childhood experiences of parenting and that they attempted to ‘correct’ these to be better parents. A model of the meltdowns is suggested along with a discussion of clinical implications for early intervention with families.
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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. Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, S DC, Grody WW, Martinez-Agosto JA. {{Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?}}. {Genet Med}. 2017.
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24. Sadybekov A, Tian C, Arnesano C, Katritch V, Herring BE. {{An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio}}. {Nat Commun}. 2017; 8(1): 601.
The Rho guanine nucleotide exchange factor (RhoGEF) Trio promotes actin polymerization by directly activating the small GTPase Rac1. Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenotypes in animal models of ASD can be produced by dysregulation of Rac1’s control of actin polymerization at glutamatergic synapses. Here, in humans, we discover a large cluster of ASD-related de novo mutations in Trio’s Rac1 activating domain, GEF1. Our study reveals that these mutations produce either hypofunctional or hyperfunctional forms of Trio in rodent neurons in vitro. In accordance with pathological increases or decreases in glutamatergic neurotransmission observed in animal models of ASD, we find that these mutations result in either reduced synaptic AMPA receptor expression or enhanced glutamatergic synaptogenesis. Together, our findings implicate both excessive and reduced Trio activity and the resulting synaptic dysfunction in ASD-related pathogenesis, and point to the Trio-Rac1 pathway at glutamatergic synapses as a possible key point of convergence of many ASD-related genes.Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with ASD, and confirm that some of these mutations lead to glutamatergic dysregulation in vitro.
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25. Serret S, Hun S, Thummler S, Pierron P, Santos A, Bourgeois J, Askenazy F. {{Teaching Literacy Skills to French Minimally Verbal School-Aged Children with Autism Spectrum Disorders with the Serious Game SEMA-TIC: An Exploratory Study}}. {Front Psychol}. 2017; 8: 1523.
Learning to read is very challenging for children with Autism Spectrum Disorders (ASD), but also very important, as it can give them access to new knowledge. This is even more challenging in minimally verbal children, who do not have the verbal abilities to learn through usual methods. To address the learning of literacy skills in French minimally verbal school-aged children with ASD, we designed the serious game SEMA-TIC, which relies on non-verbal cognitive skills and uses specific learning strategies adapted to the features of autistic individuals. This study investigated the usability of SEMA-TIC (in terms of adaptability, efficiency, and effectiveness) for the acquisition of literacy skills in French minimally verbal school-aged children with ASD. Twenty-five children with ASD and no functional language participated in the study. Children in the training group received the SEMA-TIC training over 23 weeks (on average), while no intervention was provided to children in the non-training group. Results indicated that SEMA-TIC presents a suitable usability, as all participants were able to play (adaptability), to complete the training (efficiency) and to acquire significant literacy skills (effectiveness). Indeed, the literacy skills in the training group significantly improved after the training, as measured by specific experimental tasks (alphabet knowledge, word reading, word-non-word discrimination, sentence reading and word segmentation; all p Lien vers le texte intégral (Open Access ou abonnement)
26. 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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27. 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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28. Vanmarcke S, van de Cruys S, Moors P, Wagemans J. {{Intact animacy perception during chase detection in ASD}}. {Sci Rep}. 2017; 7(1): 11851.
We explored the strength of implicit social inferences in adolescents with and without Autism Spectrum Disorder (ASD) using a chasing paradigm in which participants judged the absence/presence of a chase within a display of four seemingly randomly moving dots. While two of these dots always moved randomly, the two others could fulfill the role of being either the chasing (wolf) or chased (sheep) dot. In the chase-present (but not the chase-absent) trials the wolf displayed chasing behavior defined by the degree to which the dot reliably moved towards the sheep (chasing subtlety). Previous research indicated that chasing subtlety strongly influenced chase detection in typically developing (TD) adults. We intended to replicate and extend this finding to adolescents with and without ASD, while also adding either a social or a non-social cue to the displays. Our results confirmed the importance of chasing subtlety and indicated that adding social, but not non-social, information further improved chase detection performance. Interestingly, the performance of adolescents with ASD was less dependent on chasing subtlety than that of their TD counterparts. Nonetheless, adolescents with and without ASD did not differ in their use of the added social (or non-social) cue.
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29. Weir RK, Bauman MD, Jacobs B, Schumann CM. {{Protracted dendritic growth in the typically developing human amygdala and increased spine density in young ASD brains}}. {J Comp Neurol}. 2017.
The amygdala is a medial temporal lobe structure implicated in social and emotional regulation. In typical development (TD), the amygdala continues to increase volumetrically throughout childhood and into adulthood, while other brain structures are stable or decreasing in volume. In autism spectrum disorder (ASD), the amygdala undergoes rapid early growth, making it volumetrically larger in children with ASD compared to TD children. Here we explore: 1) if dendritic arborization in the amygdala follows the pattern of protracted growth in TD and early overgrowth in ASD and 2), if spine density in the amygdala in ASD cases differs from TD from youth to adulthood. The amygdala from 32 postmortem human brains (7-46 years of age) was stained using a Golgi-Kopsch impregnation. Ten principal neurons per case were selected in the lateral nucleus and traced using Neurolucida software in their entirety. We found that both ASD and TD individuals show a similar pattern of increasing dendritic length with age well into adulthood. However, spine density is i) greater in young ASD cases compared to age-matched TD controls (<18 years old) and ii) decreases in the amygdala as people with ASD age into adulthood, a phenomenon not found in typical development. Therefore, by adulthood, there is no observable difference in spine density in the amygdala between ASD and TD age-matched adults (>/=18 years old). Our findings highlight the unique growth trajectory of the amygdala and suggest that spine density may contribute to aberrant development and function of the amygdala in children with ASD. This article is protected by copyright. All rights reserved.
