1. Basheer S, Venkataswamy MM, Christopher R, Van Amelsvoort T, Srinath S, Girimaji SC, Ravi V. {{Immune aberrations in children with Autism Spectrum Disorder: a case-control study from a tertiary care neuropsychiatric hospital in India}}. {Psychoneuroendocrinology}. 2018; 94: 162-7.
Multiple studies have identified the presence of peripheral immune aberrations in subjects with Autism Spectrum Disorder (ASD). However, comprehensive assessment of these peripheral immune aberrations, in the cellular and systemic compartments, in a single group of subjects with ASD is lacking. We assessed proportions of various subsets of immune cells in peripheral blood (T helper cells, T regulatory cells, B cells, monocytes, Natural Killer cells, dendritic cells) by multi-parametric flow cytometry in 50 children with ASD and compared it with thirty healthy controls matched for age, gender, socio-economic status and body mass index. There were no significant differences noted in the proportion of T regulatory cells, B cells, monocytes and Natural Killer cells, between ASD subjects and controls. On the contrary, the proportion of activated Th17 and myeloid dendritic cells were significantly higher in children with ASD. Based on these findings, group comparison of serum levels of Th17 cytokines (interleukin-6, interleukin-17A) was performed. Elevated serum levels of interleukin-6 and interleukin-17A in children with ASD corroborated our immunophenotyping findings. We did not find any significant differences among the pro-inflammatory (interleukin-1beta), Th1 (interferon-gamma) and Th2 (interleukin-4) cytokines. This is the first evidence with concurrent findings from immunophenotyping and cytokine data demonstrating activation of the Th17 pathway in subjects with ASD. This finding assumes significance in the light of recent maternal immune activation mouse model study that has highlighted the role of Th17 pathway in the pathophysiology of ASD. Future longitudinal studies are needed to clarify the role of this dysregulated immune pathway in the development of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Benyakorn S, Calub CA, Riley SJ, Schneider A, Iosif AM, Solomon M, Hessl D, Schweitzer JB. {{Computerized Cognitive Training in Children With Autism and Intellectual Disabilities: Feasibility and Satisfaction Study}}. {JMIR mental health}. 2018; 5(2): e40.
BACKGROUND: Researchers are increasingly interested in testing and developing computerized cognitive training interventions for individuals with autism spectrum disorder due to the limited accessibility of treatments for this disorder. Understanding the feasibility of testing cognitive interventions for this population is critical, especially for individuals with ASD who have low to moderate intellectual ability. OBJECTIVE: The aim of the study was to evaluate the feasibility of computerized cognitive training as measured by attrition rate and a parent satisfaction survey. METHODS: A total of 26 participants aged 8-17 years with an autism spectrum disorder diagnosis and significant intellectual impairment were enrolled (mean age 11.1 years). They were instructed to complete 25 sessions of Cogmed Working Memory Training in 5 to 6 weeks with coach assistance. Attrition rate and parent satisfaction surveys were measured after the completion of training. RESULTS: Most participants (96%, 25/26) completed the training and indicated high satisfaction (>88%). However, among the participants who completed the training, 5 participants (19%) were unable to finish in 6 weeks, the recommended training period by Cogmed. Parents noted various positive (eg, voice-overs) and negative (eg, particular graphic and sounds associated with a stimulus) features of the game that they thought affected their child’s response. CONCLUSIONS: Children with autism spectrum disorder and intellectual impairments can successfully participate in computerized cognitive training interventions but may require additional weeks to complete the training beyond the time needed for children without intellectual impairments. The overall completion rate, with extended time to complete the training, was high. Developers of cognitive training programs for this population should take into account potential issues regarding the noise level of stimuli and characteristics of the visual graphics.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bitoun P. {{Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease}}. {European journal of human genetics : EJHG}. 2018.
Lien vers le texte intégral (Open Access ou abonnement)
4. Brown HK, Kirkham YA, Lunsky Y, Cobigo V, Vigod SN. {{Contraceptive Provision to Postpartum Women With Intellectual and Developmental Disabilities: A Population-Based Cohort Study}}. {Perspectives on sexual and reproductive health}. 2018.
CONTEXT: Women with intellectual and developmental disabilities who experience pregnancy, like all women, require postpartum care that supports their contraceptive knowledge and decision making. Yet, little is known about the postpartum contraceptive care these women receive, or how it compares with care given to other women. METHODS: A population-based study using linked health and social services administrative data examined provision of postpartum contraceptive care to women who had a live birth in Ontario, Canada, in 2002-2014 and were beneficiaries of Ontario’s publicly funded drug plan. Modified Poisson regression was used to compare care between 1,181 women with and 36,259 women without intellectual and developmental disabilities. Outcomes were provision of any nonbarrier contraceptive in the year following the birth and type of method provided. RESULTS: In the first year postpartum, women with intellectual and developmental disabilities were provided with contraceptives at a higher rate than were other women (relative risk 1.3); the difference was significant for both nonsurgical and surgical methods (1.2 and 1.8, respectively). The higher rate of nonsurgical contraceptive provision was explained by provision of injectables (1.9); there were no differences for pills or IUDs. CONCLUSION: Nonbarrier contraceptives may be the most appropriate methods for some women with intellectual and developmental disabilities. However, future research should investigate why women with such disabilities are more likely than others to receive injectable contraceptives, which have possible negative side effects, and surgical contraception, which is irreversible. Research also should investigate how these women perceive their participation in contraceptive decision making.
Lien vers le texte intégral (Open Access ou abonnement)
5. Codd A, Burford B, Petruso G, Davidson N, Vance G. {{Development and evaluation of a digistory about autistic spectrum disorder – a pilot study}}. {Education for primary care : an official publication of the Association of Course Organisers, National Association of GP Tutors, World Organisation of Family Doctors}. 2018: 1-5.
BACKGROUND: Digital storytelling (‘digistories’) offers a way of sharing the personal impact of a condition, if students have limited direct contact. Autistic spectrum disorder (ASD) exemplifies a common condition, where there is need to improve practise in primary care. Hence, we chose this condition to develop and evaluate a digistory. We considered stigmatising attitudes to ASD and wider educational effects. METHODS: In the digistory, a mother of a boy with severe ASD describes her autobiographical experiences, illustrated by customised cartoons. Participants completed, pre-post, a validated attitude questionnaire and word association exercise. Views on educational value were gathered through free text and focus group. RESULTS: Questionnaire scores indicated positive attitudes, with no significant change. In contrast, content analysis of word association responses showed prevalent negative associations. Thematic analysis identified increased empathy of students with the family, enabled by the resource design. The digistory helped students challenge stereotypes associated with the condition and encouraged greater confidence to engage in future clinical encounters. CONCLUSION: The digistory is an accessible and authentic patient analogue that gives additional insight into living with autistic spectrum disorder, with potential benefits for patient-centred learning.
Lien vers le texte intégral (Open Access ou abonnement)
6. Dass TK, Kisamore AN, Vladescu JC, Reeve KF, Reeve SA, Taylor-Santa C. {{Teaching children with autism spectrum disorder to tact olfactory stimuli}}. {Journal of applied behavior analysis}. 2018.
Research on tact acquisition by children with autism spectrum disorder (ASD) has often focused on teaching participants to tact visual stimuli. It is important to evaluate procedures for teaching tacts of nonvisual stimuli (e.g., olfactory, tactile). The purpose of the current study was to extend the literature on secondary target instruction and tact training by evaluating the effects of a discrete-trial instruction procedure involving (a) echoic prompts, a constant prompt delay, and error correction for primary targets; (b) inclusion of secondary target stimuli in the consequent portion of learning trials; and (c) multiple exemplar training on the acquisition of item tacts of olfactory stimuli, emergence of category tacts of olfactory stimuli, generalization of category tacts, and emergence of category matching, with three children diagnosed with ASD. Results showed that all participants learned the item and category tacts following teaching, participants demonstrated generalization across category tacts, and category matching emerged for all participants.
Lien vers le texte intégral (Open Access ou abonnement)
7. Davidson MM, Kaushanskaya M, Ellis Weismer S. {{Reading Comprehension in Children With and Without ASD: The Role of Word Reading, Oral Language, and Working Memory}}. {J Autism Dev Disord}. 2018.
Word reading and oral language predict reading comprehension, which is generally poor, in individuals with autism spectrum disorder (ASD). However, working memory (WM), despite documented weaknesses, has not been thoroughly investigated as a predictor of reading comprehension in ASD. This study examined the role of three parallel WM N-back tasks using abstract shapes, familiar objects, and written words in children (8-14 years) with ASD (n = 19) and their typically developing peers (n = 24). All three types of WM were significant predictors of reading comprehension when considered alone. However, these relationships were rendered non-significant with the addition of age, word reading, vocabulary, and group entered into the models. Oral vocabulary emerged as the strongest predictor of reading comprehension.
Lien vers le texte intégral (Open Access ou abonnement)
8. Gardner LM, Campbell JM, Keisling B, Murphy L. {{Correlates of DSM-5 Autism Spectrum Disorder Levels of Support Ratings in a Clinical Sample}}. {J Autism Dev Disord}. 2018.
The DSM-5 features level of support ratings for social communication (SC) and restrictive and repetitive behaviors (RRB) for individuals with autism spectrum disorder (ASD). We contrasted cognitive, adaptive, and autism severity scores across SC and RRB groups for 158 individuals with ASD diagnosed in a developmental disabilities clinic. Roughly 46% of individuals were identified by licensed psychologists’ clinical judgement as needing Level 2 SC support and 49% were identified as needing Level 2 RRB support. No individuals were rated as needing a combination of Level 1/Level 3 supports across domains. MANOVA and direct discriminant analysis revealed that both SC and RRB groups showed a graded pattern of higher adaptation/lower autism severity to lower adaptation/higher autism severity from Level 1 to Level 3.
Lien vers le texte intégral (Open Access ou abonnement)
9. Horder J, Petrinovic MM, Mendez MA, Bruns A, Takumi T, Spooren W, Barker GJ, Kunnecke B, Murphy DG. {{Glutamate and GABA in autism spectrum disorder-a translational magnetic resonance spectroscopy study in man and rodent models}}. {Translational psychiatry}. 2018; 8(1): 106.
Autism spectrum disorder (ASD) is a pervasive neurodevelopmental syndrome with a high human and economic burden. The pathophysiology of ASD is largely unclear, thus hampering development of pharmacological treatments for the core symptoms of the disorder. Abnormalities in glutamate and GABA signaling have been hypothesized to underlie ASD symptoms, and may form a therapeutic target, but it is not known whether these abnormalities are recapitulated in humans with ASD, as well as in rodent models of the disorder. We used translational proton magnetic resonance spectroscopy ([1H]MRS) to compare glutamate and GABA levels in adult humans with ASD and in a panel of six diverse rodent ASD models, encompassing genetic and environmental etiologies. [1H]MRS was performed in the striatum and the medial prefrontal cortex, of the humans, mice, and rats in order to allow for direct cross-species comparisons in specific cortical and subcortical brain regions implicated in ASD. In humans with ASD, glutamate concentration was reduced in the striatum and this was correlated with the severity of social symptoms. GABA levels were not altered in either brain region. The reduction in striatal glutamate was recapitulated in mice prenatally exposed to valproate, and in mice and rats carrying Nlgn3 mutations, but not in rodent ASD models with other etiologies. Our findings suggest that glutamate/GABA abnormalities in the corticostriatal circuitry may be a key pathological mechanism in ASD; and may be linked to alterations in the neuroligin-neurexin signaling complex.
Lien vers le texte intégral (Open Access ou abonnement)
10. Khalaj M, Saghazadeh A, Shirazi E, Shalbafan MR, Alavi K, Shooshtari MH, Laksari FY, Hosseini M, Mohammadi MR, Akhondzadeh S. {{Palmitoylethanolamide as adjunctive therapy for autism: Efficacy and safety results from a randomized controlled trial}}. {Journal of psychiatric research}. 2018; 103: 104-11.
Inflammation as well as glutamate excitotoxicity have been proposed to participate in the propagation of autism. Palmitoylethanolamide (PEA) is an endocannabinoid proven to prevent glutamatergic toxicity and inhibit inflammatory responses simultaneously. The present randomized, parallel group, double-blind placebo-controlled trial is the first study depicted to probe the efficacy of co-treatment with risperidone and PEA over 10 weeks in children with autism. Seventy children (aged 4-12 years) with autism and moderate to severe symptoms of irritability were randomly assigned to two treatment regimens. The study outcomes were measured using the Aberrant Behavior Checklist-Community Edition (ABC-C). At trial endpoint (week 10), combination of PEA and risperidone had superior efficacy in ameliorating the ABC-irritability and hyperactivity/noncompliance symptoms (Cohen’s d, 95% confidence interval (CI)=0.94, 0.41 to 1.46, p=0.001) compared with a risperidone plus placebo regimen. Interestingly, effect of combination treatment on hyperactivity symptoms was also observed at trial midpoint (week 5) but with a smaller effect size (d=0.53, p=0.04) than that at the endpoint (d=0.94, p=0.001). Meanwhile, there was a trend toward significance for superior effect of risperidone plus PEA over risperidone plus placebo on inappropriate speech at trial endpoint (d=0.51, p=0.051). No significant differences existed between the two treatment groups for the other two ABC-C subscales (lethargy/social withdrawal and stereotypic behavior). The findings suggest that PEA may augment therapeutic effects of risperidone on autism-related irritability and hyperactivity. Future studies are warranted to investigate whether PEA can serve as a stand-alone treatment for autism.
Lien vers le texte intégral (Open Access ou abonnement)
11. Li C, Zhou H, Wang T, Long S, Du X, Xu X, Yan W, Wang Y. {{Performance of the Autism Spectrum Rating Scale and Social Responsiveness Scale in Identifying Autism Spectrum Disorder Among Cases of Intellectual Disability}}. {Neurosci Bull}. 2018.
The Autism Spectrum Rating Scale (ASRS) and the Social Responsiveness Scale (SRS) have been widely used for screening autism spectrum disorder (ASD) in the general population during epidemiological studies, but studies of individuals with intellectual disability (ID) are quite limited. Therefore, we recruited the parents/caregivers of 204 ASD cases, 71 ID cases aged 6-18 years from special education schools, and 402 typically developing (TD) children in the same age span from a community-based population to complete the ASRS and SRS. The results showed that the ID group scored significantly lower on total and subscale scores than the ASD group on both scales (P < 0.05) but higher than TD children (P < 0.05). Receiver operating characteristic analyses demonstrated a similar fair performance in discriminating ASD from ID with the ASRS (area under the curve (AUC) = 0.709, sensitivity = 77.0%, specificity = 52.1%, positive predictive value (PPV) = 82.2%) and the SRS (AUC = 0.742, sensitivity = 59.8%, specificity = 77.5%, PPV = 88.4%). The results showed that individuals with ID had clear autistic traits and discriminating ASD from ID cases was quite challenging, while assessment tools such as ASRS and SRS, help to some degree. Lien vers le texte intégral (Open Access ou abonnement)
12. Rice ME. {{The ethical dilemma of treating or not treating patients with intellectual and developmental disabilities}}. {Journal of the American Dental Association (1939)}. 2018; 149(6): 485-7.
Lien vers le texte intégral (Open Access ou abonnement)
13. Soler J, Fananas L, Parellada M, Krebs MO, Rouleau GA, Fatjo-Vilas M. {{Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review}}. {Journal of psychiatry & neuroscience : JPN}. 2018; 43(4): 170066.
Scaffolding proteins represent an evolutionary solution to controlling the specificity of information transfer in intracellular networks. They are highly concentrated in complexes located in specific subcellular locations. One of these complexes is the postsynaptic density of the excitatory synapses. There, scaffolding proteins regulate various processes related to synaptic plasticity, such as glutamate receptor trafficking and signalling, and dendritic structure and function. Most scaffolding proteins can be grouped into 4 main families: discs large (DLG), discs-large-associated protein (DLGAP), Shank and Homer. Owing to the importance of scaffolding proteins in postsynaptic density architecture, it is not surprising that variants in the genes that code for these proteins have been associated with neuropsychiatric diagnoses, including schizophrenia and autism-spectrum disorders. Such evidence, together with the clinical, neurobiological and genetic overlap described between schizophrenia and autism-spectrum disorders, suggest that alteration of scaffolding protein dynamics could be part of the pathophysiology of both. However, despite the potential importance of scaffolding proteins in these psychiatric conditions, no systematic review has integrated the genetic and molecular data from studies conducted in the last decade. This review has the following goals: i) to systematically analyze the literature in which common and/or rare genetic variants (single nucleotide polymorphisms, single nucleotide variants and copy number variants) in the scaffolding family genes are associated with the risk for either schizophrenia or autism-spectrum disorders; ii) to explore the implications of the reported genetic variants for gene expression and/or protein function; and iii) to discuss the relationship of these genetic variants to the shared genetic, clinical and cognitive traits of schizophrenia and autism-spectrum disorders.
Lien vers le texte intégral (Open Access ou abonnement)
14. Vogus TJ, Taylor JL. {{Flipping the script: Bringing an organizational perspective to the study of autism at work}}. {Autism}. 2018: 1362361318776103.
