1. Berggren S, Fletcher-Watson S, Milenkovic N, Marschik PB, Bolte S, Jonsson U. {{Emotion recognition training in autism spectrum disorder: A systematic review of challenges related to generalizability}}. {Dev Neurorehabil};2017 (Apr 10):1-14.
PURPOSE: To assess the generalizability of findings from randomized controlled trials (RCTs) evaluating emotion recognition (ER) training for children and adolescents with autism spectrum disorder (ASD). METHODS: We present a systematic review and narrative synthesis of the determinants of external validity in RCTs on ER training. Generalizability of the findings across situations, populations, settings, treatment delivery, and intervention formats was considered. RESULTS: We identified 13 eligible studies. Participants were predominantly boys with ASD in the normative IQ range (IQ > 70), with an age span from 4 to 18 years across studies. Interventions and outcome measures were highly variable. Several studies indicated that training may improve ER, but it is still largely unknown to what extent training effects are translated to daily social life. CONCLUSION: The generalizability of findings from currently available RCTs remains unclear. This underscores the importance of involving children with ASD and their caregivers in informed treatment decisions.
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2. Crosson J, Srivastava S, Bibat GM, Gupta S, Kantipuly A, Smith-Hicks C, Myers SM, Sanyal A, Yenokyan G, Brenner J, Naidu SR. {{Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype}}. {Am J Med Genet A};2017 (Apr 10)
Rett syndrome (RTT) is caused by MECP2 mutations, resulting in various neurological symptoms. Prolonged corrected QT interval (QTc) is also reported and is a speculated cause of sudden death in RTT. The purpose of this study was to correlate QTc in RTT patients with age, clinical severity, and genotype. 100 RTT patients (98 females, 2 males) with MECP2 mutations underwent baseline neurological evaluation (KKI-RTT Severity Scale) and QTc measurement (standard 12 lead electrocardiogram) as part of our prospective natural history study. Mean QTc of the cohort was 422.6 msec, which did not exceed the normal values for age. 7/100 patients (7%) had QTc prolongation (>450 msec). There was a trend for increasing QTc with age and clinical severity (P = 0.09). No patients with R106C, R106W, R133C, R168*, R270*, R294*, R306C, R306H, and R306P mutations demonstrated QTc prolongation. There was a relatively high proportion of QTc prolongation in patients with R255* mutations (2/8, 25%) and large deletions (1/4, 25%). The overall presence of QTc prolongation did not correlate with mutation category (P = 0.52). Our findings demonstrate that in RTT, the prevalence of QTc prolongation is lower than previously reported. Hence, all RTT patients warrant baseline ECG; if QTc is prolonged, then cardiac followup is warranted. If initial QTc is normal, then annual ECGs, particularly in younger patients, may not be necessary. However, larger sample sizes are needed to solidify the association between QTc and age and clinical severity. The biological and clinical significance of mild QTc prolongation above the normative data remains undetermined.
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3. de Veld DM, Howlin P, Hoddenbach E, Mulder F, Wolf I, Koot HM, Lindauer R, Begeer S. {{Moderating Effects of Parental Characteristics on the Effectiveness of a Theory of Mind Training for Children with Autism: A Randomized Controlled Trial}}. {J Autism Dev Disord};2017 (Apr 08)
This RCT investigated whether the effect of a Theory of Mind (ToM) intervention for children with ASD was moderated by parental education level and employment, family structure, and parental ASD. Children with autism aged 8-13 years (n = 136) were randomized over a waitlist control or treatment condition. At posttest, children in the treatment condition had more ToM knowledge, showed fewer autistic features, and more ToM-related behavior than children in the control condition. Children who had one or two parents with at least a college degree, and children with parents not diagnosed with/suspected of having ASD themselves benefitted from the training. These findings provide valuable information about family variables that need to be taken into account in treatment design and implementation.
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4. Fluegge K. {{Revisiting the Link Between Precipitation and the Risk of Autism: The Role of Environmental Nitrous Oxide Exposure}}. {JAMA Pediatr};2017 (Apr 10)
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5. Green J, Pickles A, Pasco G, Bedford R, Wan MW, Elsabbagh M, Slonims V, Gliga T, Jones EJ, Cheung CH, Charman T, Johnson MH. {{Randomised trial of a parent-mediated intervention for infants at high risk for autism: longitudinal outcomes to age 3 years}}. {J Child Psychol Psychiatry};2017 (Apr 10)
BACKGROUND: There has been increasing interest in the potential for pre-emptive interventions in the prodrome of autism, but little investigation as to their effect. METHODS: A two-site, two-arm assessor-blinded randomised controlled trial (RCT) of a 12-session parent-mediated social communication intervention delivered between 9 and 14 months of age (Intervention in the British Autism Study of Infant Siblings-Video Interaction for Promoting Positive Parenting), against no intervention. Fifty-four infants (28 intervention, 26 nonintervention) at familial risk of autism but not otherwise selected for developmental atypicality were assessed at 9-month baseline, 15-month treatment endpoint, and 27- and 39-month follow-up. PRIMARY OUTCOME: severity of autism prodromal symptoms, blind-rated on Autism Observation Schedule for Infants or Autism Diagnostic Observation Schedule 2nd Edition across the four assessment points. SECONDARY OUTCOMES: blind-rated parent-child interaction and child language; nonblind parent-rated communication and socialisation. Prespecified intention-to-treat analysis combined estimates from repeated measures within correlated regressions to estimate the overall effect of the infancy intervention over time. RESULTS: Effect estimates in favour of intervention on autism prodromal symptoms, maximal at 27 months, had confidence intervals (CIs) at each separate time point including the null, but showed a significant overall effect over the course of the intervention and follow-up period (effect size [ES] = 0.32; 95% CI 0.04, 0.60; p = .026). Effects on proximal intervention targets of parent nondirectiveness/synchrony (ES = 0.33; CI 0.04, 0.63; p = .013) and child attentiveness/communication initiation (ES = 0.36; 95% CI 0.04, 0.68; p = .015) showed similar results. There was no effect on categorical diagnostic outcome or formal language measures. CONCLUSIONS: Follow-up to 3 years of the first RCT of a very early social communication intervention for infants at familial risk of developing autism has shown a treatment effect, extending 24 months after intervention end, to reduce the overall severity of autism prodromal symptoms and enhance parent-child dyadic social communication over this period. We highlight the value of extended follow-up and repeat assessment for early intervention trials.
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6. Gunes S. {{Modified-Release Methylphenidate-Related Trichotillomania in a Boy with Autism Spectrum Disorder}}. {J Child Adolesc Psychopharmacol};2017 (Apr 10)
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7. Kim SH, Grammer J, Benrey N, Morrison F, Lord C. {{Stimulus processing and error monitoring in more-able kindergarteners with Autism Spectrum Disorder (ASD): A short review and a preliminary ERP study}}. {Eur J Neurosci};2017 (Apr 10)
Deficits in executive functions (EF) in individuals with autism spectrum disorder (ASD) have been identified. However, there is limited evidence about patterns of deficits in EF-related skills, especially at the neurobiological level, in young children with ASD and little is known about how these skills are related to other domains of functioning and symptom severity. In this study, we provide a focused review of EF-related Event-Related Potentials (ERP) studies in children with ASD, accompanied by preliminary data for neurophysiological correlates of EF on a child-friendly Go/No-go task. We focus our preliminary investigation on ERPs associated with stimulus processing (N2, P3) and error monitoring (error/correct-related negativity [ERN, CRN], error positivity [Pe]) in 5-year-old kindergarteners with ASD and typical controls matched on age, gender, and task accuracy. Children with ASD showed significantly greater amplitudes of ERN/CRN compared to matched controls, suggesting heightened response monitoring. The ASD group also showed less distinct inhibitory P3 compared to the TD group, potentially suggesting atypical stimulus processing. In children with ASD, higher autism symptom severity was correlated with larger P3. Better behavioral performance on an EF-related task was correlated with smaller CRN. Our study is the first investigation to demonstrate the presence of N2, P3, ERN/CRN and Pe in kindergartners with ASD. The potential links between ERP patterns and behavioral and clinical features in more-able children with ASD highlight the need for further exploration into the functional mechanisms of these atypical neural activities and for more focused behavioral interventions targeting cognitive control and response monitoring. This article is protected by copyright. All rights reserved.
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8. Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S, Zhou Z. {{Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes}}. {J Clin Invest};2017 (Apr 10)
Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome (RTT), a neurological disorder affecting cognitive development, respiration, and motor function. Genetic restoration of MeCP2 expression reverses RTT-like phenotypes in mice, highlighting the need to search for therapeutic approaches. Here, we have developed knockin mice recapitulating the most common RTT-associated missense mutation, MeCP2 T158M. We found that the T158M mutation impaired MECP2 binding to methylated DNA and destabilized MeCP2 protein in an age-dependent manner, leading to the development of RTT-like phenotypes in these mice. Genetic elevation of MeCP2 T158M expression ameliorated multiple RTT-like features, including motor dysfunction and breathing irregularities, in both male and female mice. These improvements were accompanied by increased binding of MeCP2 T158M to DNA. Further, we found that the ubiquitin/proteasome pathway was responsible for MeCP2 T158M degradation and that proteasome inhibition increased MeCP2 T158M levels. Together, these findings demonstrate that increasing MeCP2 T158M protein expression is sufficient to mitigate RTT-like phenotypes and support the targeting of MeCP2 T158M expression or stability as an alternative therapeutic approach.
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9. Lewis LF. {{« We will never be normal »: The Experience of Discovering a Partner Has Autism Spectrum Disorder}}. {J Marital Fam Ther};2017 (Apr 10)
Online forums and lay literature suggest that partners of individuals with Autism Spectrum Disorder (ASD) experience depression, distress, and trauma in their everyday lives, exacerbated during the time surrounding diagnosis. In this content analysis, 29 participants were provided with an online open-ended statement asking them to describe in writing their experiences of discovering that their partners had ASD during their relationships. Six themes emerged, including: facing unique challenges within relationships; insisting partners seek diagnosis; initial shock and relief; losing hope for normalcy; making accommodations within relationships; and wishing for professional support. Marriage and family therapists should help couples minimize blaming and promote self-awareness, appropriate relationship expectations, and mutual understanding. Future research should explore the overall experience of neuro-mixed relationships for both partners.
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10. Loohuis NF, Martens GJ, van Bokhoven H, Kaplan BB, Homberg JR, Aschrafi A. {{Altered expression of circadian rhythm and extracellular matrix genes in the medial prefrontal cortex of a valproic acid rat model of autism}}. {Prog Neuropsychopharmacol Biol Psychiatry};2017 (Apr 10)
Autism spectrum disorders (ASD) are a highly heterogeneous group of neurodevelopmental disorders caused by complex interplay between various genes and environmental factors during embryonic development. Changes at the molecular, cellular and neuroanatomical levels are especially evident in the medial prefrontal cortex (mPFC) of ASD patients and are particularly contributing to social impairments. In the present study we tested the hypothesis that altered neuronal development and plasticity, as seen in the mPFC of ASD individuals, may result from aberrant expression of functionally connected genes. Towards this end, we combined transcriptome sequencing and computational gene ontology analysis to identify the molecular networks impaired in the mPFC of a valproic acid (VPA) rat model of autism. This investigation identified two subsets of genes differentially expressed in the mPFC of VPA rats: one group of genes being functionally involved in the regulation of the circadian rhythm, while the second group encompasses a set of differentially expressed collagen genes acting within the extracellular matrix. Ultimately, our integrated transcriptome analysis identified a distinct subset of altered gene networks in the mPFC of VPA rats, contributing to our understanding of autism at the molecular level, thus providing novel insight into the genetic alterations associated with this neurodevelopmental disorder.
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11. McVey AJ, Schiltz H, Haendel A, Dolan BK, Willar KS, Pleiss S, Karst JS, Carson AM, Caiozzo C, Vogt E, Van Hecke AV. {{Brief Report: Does Gender Matter in Intervention for ASD? Examining the Impact of the PEERS(R) Social Skills Intervention on Social Behavior Among Females with ASD}}. {J Autism Dev Disord};2017 (Apr 08)
A paucity of research has been conducted to examine the effect of social skills intervention on females with ASD. Females with ASD may have more difficulty developing meaningful friendships than males, as the social climate can be more complex (Archer, Coyne, Personality and Social Psychology Review 9(3):212-230, 2005). This study examined whether treatment response among females differed from males. One hundred and seventy-seven adolescents and young adults with ASD (N = 177) participated in this study. When analyzed by group, no significant differences by gender emerged: PEERS(R) knowledge (TASSK/TYASSK, p = .494), direct interactions (QSQ, p = .762), or social responsiveness (SRS, p = .689; SSIS-RS, p = .482). Thus, females and males with ASD respond similarly to the PEERS(R) intervention.
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12. Mohammad Nijres B, Al-Kubaisi M, Bokowski J, Abdulla RI, Awad S. {{Coronary Sinus Defect Following Transcatheter Closure of ASD Using Amplatzer Septal Occluder: Potential Erosion by the Device}}. {Pediatr Cardiol};2017 (Apr 10)
We present a case of small coronary sinus defect detected after transcatheter device closure of a large secundum atrial septal defect. Although device erosion of the dilated coronary sinus is suspected, the defect in the coronary sinus may have been present prior to ASD device closure. Dilated coronary sinus may be a risk factor when closing a secundum ASD with a device. To the best of our knowledge, coronary sinus erosion by an ASD device has not yet been reported in the medical literature.
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13. Olivati AG, Assumpcao FBJ, Misquiatti AR. {{Acoustic analysis of speech intonation pattern of individuals with Autism Spectrum Disorders}}. {Codas};2017 (Apr 10);29(2):e20160081.
Purpose: This study aimed to analyze prosodic elements of speech segments of students with Autism Spectrum Disorders (ASD) and compare with the control group, using an acoustic analysis. Methods: Speech recordings were performed with a sample of individuals with ASD (n = 19) and with typical development (n = 19) of the male gender, age range: 8-33 years. The prosody questionnaire ALIB (Brazilian Linguistic Atlas) was used as script, which contains interrogative, affirmative and imperative sentences. Data were analyzed using the PRAAT software and forwarded to statistical analysis in order to verify possible significant differences between the two groups studied in each prosodic parameter evaluated (fundamental frequency, intensity and duration) and its respective variables. Results: There were significant differences for the variables tessitura, melodic amplitude of tonic vowel, melodic amplitude of pretonic vowel, maximum intensity, minimum intensity, tonic vowel duration, pretonic vowel duration and phrase duration. Conclusion: Individuals with ASD present significant differences in prosody compared to those with typical development. It is noteworthy, however, the necessity of additional studies on the characterization of prosodic aspects of speech of individuals with ASD with a larger sample and a more restricted age group.
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14. Post SG, Pomeroy J, Keirns C, Cover VI, Dorn ML. {{A Grassroots Community Dialogue on the Ethics of the Care of People with Autism and Their Families: The Stony Brook Guidelines}}. {HEC Forum};2017 (Apr 10)
The increased recognition and reported prevalence of autism spectrum disorders (ASD) combined with the associated societal and clinical impact call for a broad grassroots community-based dialogue on treatment related ethical and social issues. In these Stony Brook Guidelines, which were developed during a full year of community dialogue (2010-2011) with affected individuals, families, and professionals in the field, we identify and discuss topics of paramount concern to the ASD constituency: treatment goals and happiness, distributive justice, managing the desperate hopes for a cure, sibling responsibilities, intimacy and sex, diagnostic ethics, and research ethics. The members of the dialogue core committee included doctors, ethicists, administrators, social workers, ministers, disability experts, and many family members of individuals with autism who were especially engaged in community activities on behalf of their constituency, including siblings, parents, and grandparents. Our guidelines are not based on « top-down » imposition of professional expertise, but rather on a « bottom-up » grass roots attention to the voices of affected individuals and families speaking from experience. These guidelines can inform clinical practice, but they also are meaningful for the wider social conversation emerging over the treatment of individuals with ASD.
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15. Wang JY, Hessl D, Hagerman RJ, Simon TJ, Tassone F, Ferrer E, Rivera SM. {{Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation}}. {Neurobiol Aging};2017 (Mar 18);55:11-19.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain. Compared to the controls, premutation carriers without FXTAS showed significantly accelerated volume decrease in the cerebellum and whole brain, flatter inverted U-shaped trajectory of the brainstem, and larger ventricles. Compared to both older controls and premutation carriers without FXTAS, carriers with FXTAS exhibited significant volume decrease in the cerebellum and whole brain and accelerated volume decrease in the brainstem. We therefore conclude that cerebellar and brainstem volumes were likely affected during both development and progression of neurodegeneration in premutation carriers, suggesting that interventions may need to start early in adulthood to be most effective.
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16. Zhao S, Uono S, Yoshimura S, Kubota Y, Toichi M. {{Atypical Gaze Cueing Pattern in a Complex Environment in Individuals with ASD}}. {J Autism Dev Disord};2017 (Apr 08)
Clinically, social interaction, including gaze-triggered attention, has been reported to be impaired in autism spectrum disorder (ASD), but psychological studies have generally shown intact gaze-triggered attention in ASD. These studies typically examined gaze-triggered attention under simple environmental conditions. In real life, however, the environment is complex. Previous studies have shown that an enhanced cueing effect was found when using eye gaze compared with arrow cues in unpredictably complex conditions in typically developing (TD) individuals. However, in the current study, compared with TD individuals, the cueing effect failed to enhance when using eye gaze compared with arrow cues under complex conditions in individuals with ASD. This may reflect the atypical style of gaze-triggered attention when individuals with ASD adapt to environmental complexity.
