1. Baweja R, Mills S, Waxmonsky J. {{Dexmethylphenidate Extended Release-Associated Orofacial Dyskinesia in an Adolescent with Autism Spectrum Disorder After Prolonged Use}}. {J Child Adolesc Psychopharmacol};2018 (May 21)
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2. Beaudoin W, Moore A. {{Living Without Restraint: One Parent’s Reflections and Recommendations for Supporting At-Risk Individuals With Developmental Disabilities}}. {Intellect Dev Disabil};2018 (Jun);56(3):155-164.
In the past several years, there has been an important movement to reduce the utilization of restraint for individuals with developmental disabilities. Legislatures, local and national, are taking on the task of shaping the way that our culture supports people who, up until now, have been often treated in a punitive manner rather than truly supportive in a therapeutic way. Schools and systems of care struggle to identify strategies that offer more positive outcomes to all individuals, even those with challenging behaviors. This article represents the thoughts and recommendations of one parent who has lived with the damage done by restraint to his son. The recommendations are intended to speak to administrators, schools, and caregivers. The intent is not to assign blame, but rather to reflect on our experiences and share some strategies that have worked for us. Although much of what is recommended may not be new, the hope is that this article might provide a fresh way to understand some of the factors that contribute to the use of restraint, in addition to providing some suggestions to proactively address those factors.
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3. Cheng Y, Li Z, Manupipatpong S, Lin L, Li X, Xu T, Jiang YH, Shu Q, Wu H, Jin P. {{5-hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder}}. {Hum Mol Genet};2018 (May 22)
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC. We identified 797 age-dependent differentially hydroxymethylated regions (DhMRs) in the young group (age Lien vers le texte intégral (Open Access ou abonnement)
4. Daneshvar SD, Charlop MH, Berry Malmberg D. {{A treatment comparison study of a photo activity schedule and Social Stories for teaching social skills to children with Autism Spectrum Disorder: brief report}}. {Dev Neurorehabil};2018 (May 21):1-6.
PURPOSE: To compare the efficacy of two procedures, a photo activity schedule intervention and Social Stories, to teach social skills to four children diagnosed with Autism Spectrum Disorder (ASD). METHODS: An adapted alternating treatments design with an additional multiple baseline control was used, and two social skills were targeted for each of the four participants, one under each intervention condition. RESULTS: Results indicated that all four participants learned the target social behaviours with the photo activity schedule intervention, but did not learn target social behaviours with Social Stories. CONCLUSIONS: Findings support the use of a photo activity intervention for teaching social skillsto children with ASD; we discuss the implications of inconsistent findings of effectiveness of Social Stories.
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5. Friedman C, Crabb C. {{Restraint, Restrictive Intervention, and Seclusion of People With Intellectual and Developmental Disabilities}}. {Intellect Dev Disabil};2018 (Jun);56(3):171-187.
Restraint, restrictive interventions, and seclusion are hotly contested practices with inconclusive evidence of their effectiveness. Because the use of restraint and seclusion on people with intellectual and developmental disabilities (IDD) is controversial and its effectiveness doubtable, this study was conducted to explore if and how they were permitted in Medicaid HCBS 1915(c) waivers, the largest providers of long-term services and supports (LTSS) for people with IDD. To do so, 111 fiscal year 2015 IDD waivers from across the nation were examined to determine if and how states permitted restraint, restrictive interventions, and seclusion. Findings revealed an overwhelming majority of waivers permitted the use of restraint (78.4%) and restrictive interventions (75.7%). A smaller proportion (24.3%) allowed the use of seclusion.
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6. Honda T, Sofuku K, Matsunaga H, Tachibana M, Mohri I, Taniike M, Tomonaga K. {{Prevalence of antibodies against Borna disease virus proteins in Japanese children with autism spectrum disorder}}. {Microbiol Immunol};2018 (May 22)
Bornavirus infection is observed in both animals, including humans. However, bornavirus epidemiology in humans, especially in children, remains unclear. Here, we evaluated antibodies against bornaviruses in Japanese children with autism spectrum disorder (ASD) using immunofluorescence analysis, western blotting, and radio ligand assay. The prevalence of antibodies against bornavirus-specific speckles, N, and P proteins were 22%, 48%, and 33%, respectively, in the ASD children. According to our criteria, the prevalence of antibodies against bornaviruses was 7.4% in the ASD children. This is the first report of the serological prevalence of bornavirus in Japanese children. Our results provide valuable baseline-data regarding bornavirus epidemiology in children for future studies.
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7. Lindor E, Rinehart N, Fielding J. {{Superior Visual Search and Crowding Abilities Are Not Characteristic of All Individuals on the Autism Spectrum}}. {J Autism Dev Disord};2018 (May 22)
Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this ‘islet of ability’ may not be characteristic of the entire spectrum. We examined whether performance on these tasks changed as a function of motor proficiency in children with varying levels of ASD symptomology. Children with high ASD symptomology outperformed all others on complex visual search tasks, but only if their motor skills were rated at, or above, age expectations. For the visual crowding task, children with high ASD symptomology and superior motor skills exhibited enhanced target discrimination, whereas those with high ASD symptomology but poor motor skills experienced deficits. These findings may resolve some of the discrepancies in the literature.
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8. Rague L, Caravella K, Tonnsen B, Klusek J, Roberts J. {{Early gesture use in fragile X syndrome}}. {J Intellect Disabil Res};2018 (May 20)
BACKGROUND: Emerging evidence suggests that children with fragile X syndrome (FXS) exhibit abnormal gesture use early in development, although few studies have investigated the emergence of gesture use in this population or the impact of autism spectrum disorder (ASD) features on these behaviours. The present study examined the longitudinal development of gesture use in infants with FXS relative to low-risk controls and infant siblings of children with ASD (high-risk siblings), with the goal of establishing potentially unique patterns of gesture development in infants with FXS and understanding the relative impact of ASD symptom severity on these patterns. METHOD: Participants included 86 male infants (39 FXS, 27 high-risk siblings and 20 low-risk infants) assessed at 9, 12 and 24 months of age. Multilevel modelling was used to assess differences in number of gestures used and rates of gesture use across groups, as well as the relative impact of ASD symptom severity and nonverbal skills on these patterns. RESULTS: Infants with FXS used fewer gestures than high-risk siblings and low-risk infants, with this difference being primarily accounted for by the effect of low nonverbal abilities in the FXS group. Furthermore, although higher ASD symptom severity was associated with the use of fewer gestures in both the FXS and high-risk sibling groups, a significant amount of variance was shared between ASD symptom severity and nonverbal skills in FXS, but not in high-risk siblings. CONCLUSIONS: This study presents the first longitudinal analysis of early gesture development in FXS by using a multigroup design, clarifying the relative roles of cognitive deficits and ASD symptom severity in the development of gesture use in FXS. These findings offer novel evidence that early gesture use in FXS may reflect broader features of the FXS phenotype rather than predicting later social-communicative deficits characteristic of comorbid ASD.
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9. Su YE, Naigles LR, Su LY. {{Uneven Expressive Language Development in Mandarin-Exposed Preschool Children with ASD: Comparing Vocabulary, Grammar, and the Decontextualized Use of Language via the PCDI-Toddler Form}}. {J Autism Dev Disord};2018 (May 21)
Data from children with ASD who are learning Indo-European languages indicate that (a) they vary hugely in their expressive language skills and (b) their pragmatic/socially-based language is more impaired than their structural language. We investigate whether similar patterns of language development exist for Mandarin-exposed children with ASD. Parent report data of the Putonghua Communicative Development Inventory-Toddler Form were collected from 160 17-83-month-old children with ASD. These children with ASD demonstrated similar levels of variability as Western children with ASD. In particular, they could be divided into three distinct subgroups (high verbal, middle verbal, low verbal), all of which manifested relative strengths in lexical and grammatical language compared to pragmatic usage of decontextualized language.
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10. Veliskova J, Silverman JL, Benson M, Lenck-Santini PP. {{Autistic traits in epilepsy models: Why, when and how?}}. {Epilepsy Res};2018 (May 18);144:62-70.
Autism spectrum disorder (ASD) is a common comorbidity of epilepsy and seizures and/or epileptiform activity are observed in a significant proportion of ASD patients. Current research also implies that autistic traits can be observed to a various degree in mice and rats with seizures. This suggests that there are shared mechanisms in both ASD and epilepsy syndromes. Here, we first review the standard, validated methods used to assess autistic traits in animal models as well as their limitations with regards to epilepsy models. We then discuss two of the potential pathological processes that could be shared between ASD and epilepsy. We first focus on functional implications of neuroinflammation including changes to excitable networks mediated by inflammatory regulators. Finally we examine mechanisms at the cellular and network level involved in neuronal excitability, timing and network coordination that may directly lead to behavioral disturbances present in both epilepsy and ASD. This mini-review summarizes the work first presented at an Investigators Workshop at the 2016 American Epilepsy Society meeting.
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11. Wong DF, Blue ME, Brasic JR, Nandi A, Valentine H, Stansfield KH, Rousset O, Bibat G, Yablonski ME, Johnston MV, Gjedde A, Naidu S. {{Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?}}. {Exp Neurol};2018 (May 18)
In the present study we tested the claim that the dopaminergic dysfunction of Rett Syndrome (RTT) also occurs in Mecp2-deficient mice that serve as a model of the syndrome. We used positron emission tomography (PET) to image dopamine D2 receptors (D2R) and transporters (DAT) in women with RTT and in Mecp2-deficient mice, and D1R and D2R density was measured in postmortem human tissue by autoradiography. Results showed 1) significantly reduced D2R density in the striatum of women with RTT compared to control subjects. 2) PET imaging of mouse striatum similarly demonstrated significant reductions in D2R density of 7-10week-old hemizygous (Mecp2-null) and heterozygous (HET) mice compared to wild type (WT) mice. With age, the density of D2R declined in WT mice but not HET mice. 3) In contrast, postmortem autoradiography revealed no group differences in the density of D1R and D2R in the caudate and putamen of RTT versus normal control subjects. 4) In humans and in the mouse model, PET revealed only marginal group differences in DAT. The results confirm that dopaminergic dysfunction in RTT is also present in Mecp2-deficient mice and that reductions in D2R more likely explain the impaired ambulation and progressive rigidity observed rather than alterations in DAT.
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12. Yenkoyan K, Harutyunyan H, Harutyunyan A. {{A certain role of SOD/CAT imbalance in pathogenesis of autism spectrum disorders}}. {Free Radic Biol Med};2018 (May 19);123:85-95.
The real impact of reactive oxygen species, antioxidant enzymes, mitochondrial dysfunction and chronic inflammation on the development of autism spectrum disorders (ASD) remains unclear, and even controversial. In this study we compared the plasma levels of antioxidant enzymes and their cofactors, markers of oxidative damage, and the respiratory burst in peripheral blood polymorphonuclear leucocytes (PMNL) as surrogate marker of chronic inflammation obtained from 10 children (4-10 year old) who met DSM-5 criteria and their siblings. We demonstrated diminished superoxide dismutase (SOD) and enhanced catalase (CAT) activities resulting in a markedly decreased SOD/CAT ratio and enhanced carbonyl content in the plasma of ASD patients. A strong correlation was present between SOD and CAT activities in the control group, which was not noted in ASD patients. Moreover, in autistic patients, we observed negative correlation between SOD activity on one side, and carbonyl content in plasma, 8-Hydroxy-2-deoxyguanosin content in urine, and respiratory burst intensity in PMNL on the other side. At the same time, low SOD level in autistic children was positively correlated with the magnesium content in the packed RBCs, which might indicate the involvement of the mitochondrial MnSOD in ASD pathogenesis, and therefore the consequent partaking of mitochondrial dysfunction in the development of ASD. Altogether, these results indicate that decreased antioxidant capacity and increased oxidative stress in ASD patients may have functional consequence in terms of increased superoxide leakage, oxidative protein damage, chronic inflammatory response, and, finally, neuronal cell abnormal functioning or death.
