1. Barlati S, Minelli A, Ceraso A, Nibbio G, Carvalho Silva R, Deste G, Turrina C, Vita A. {{Social Cognition in a Research Domain Criteria Perspective: A Bridge Between Schizophrenia and Autism Spectra Disorders}}. {Front Psychiatry};2020;11:806.
Schizophrenia and autism spectra disorders are currently conceptualized as distinct clinical categories. However, the relationship between these two nosological entities has been revisited in recent years due to the evidence that they share some important clinical and neurobiological features, putting into question the nature and the extent of their commonalities and differences. In this respect, some core symptoms that are present in both disorders, such as social cognitive deficits, could be a primary target of investigation. This review briefly summarizes the commonalities and overlapping features between schizophrenia and autism spectra disorders in social cognitive functions, considering this construct in a Research Domain Criteria perspective. The clinical manifestation of deficits in social cognition are similar in schizophrenia spectrum disorders and autism spectrum disorders, and brain areas that appear to be altered in relation to these impairments are largely shared; however, the results of various studies suggest that, in some cases, the qualitative nature of these alterations may be different in the two spectra. Moreover, relevant differences could be present at the level of brain networks and connections. More research is required in this field, regarding molecular and genetic aspects of both spectra, to better define the neurobiological mechanisms involved in social cognition deficits, with the objective of developing specific and targeted treatments.
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2. Chandroo R, Strnadová I, Cumming TM. {{Is it really student-focused planning? Perspectives of students with autism}}. {Res Dev Disabil};2020 (Sep 30);107:103783.
BACKGROUND: Student-focused planning has emerged as a primary indicator of post-school success. However, without mandated policies or procedures in place for transition planning in Australia, students with autism will continue to be minimally engaged or completely disengaged from the transition planning process in schools. This is likely to significantly impact post-school outcomes for these students. While previous studies have investigated the extent of student involvement in their IEP transition planning meetings, none of these studies considered the views of students with autism, despite research suggesting that children are experts of their own experiences and their own lives. AIM: The aim of the current study was to determine how involved students with autism were in the transition planning process. METHOD AND PROCEDURES: Interviews were conducted with 18 students with autism aged 15-18 years. Interviews were analysed using inductive content analysis. OUTCOMES AND RESULTS: The results revealed that students lacked knowledge of the transition planning process, however many students expressed the desire to be significantly involved in the process. The majority of students reported that they only contributed minimally during meetings. Numerous students reported being unaware of existing transition practices (i.e., work experience opportunities) that were in place for them. CONCLUSIONS AND IMPLICATIONS: There is an urgent need for transition planning to be mandated in Australia to allow students with disabilities to receive appropriate support in school (i.e., schools and teachers should actively advocate person-centered planning and support students to develop self-determination skills).
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3. Clifford A, Standen PJ. {{Patient and Family-Centred Care (PFCC) as an evidence-based framework for optimising the acute healthcare experiences of families of young people with autism}}. {Evid Based Nurs};2020 (Oct 1)
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4. Gold NB, Li D, Chassevent A, Kaiser FJ, Parenti I, Strom TM, Ramos FJ, Puisac B, Pié J, McWalter K, Guillen Sacoto MJ, Cui H, Saadeh-Haddad R, Smith-Hicks C, Rodan L, Blair E, Bhoj E. {{Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder}}. {Clin Genet};2020 (Oct 3)
The gamma-1 isoform of casein kinase 1, the protein encoded by CSNK1G1, is involved in the growth and morphogenesis of cells. This protein is expressed ubiquitously among many tissue types, including the brain, where it regulates the phosphorylation of NMDA receptors and plays a role in synaptic transmission. One prior individual with a de novo variant in CSNK1G presenting with severe developmental delay and early-onset epilepsy has been reported. Here we report an updated clinical history of this previously published case, as well as four additional individuals with de novo variants in CSNK1G1 identified via microarray-based comparative genomic hybridization, exome or genome sequencing. All individuals (n = 5) had developmental delay. At least three individuals had diagnoses of autism spectrum disorder. All participants were noted to have dysmorphic facial features, although the reported findings varied widely and therefore may not clearly be recognizable. None of the participants had additional major malformations. Taken together, our data suggest that CSNK1G1 may be a cause of syndromic developmental delay and possibly autism spectrum disorder.
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5. Habayeb S, Tsang T, Saulnier C, Klaiman C, Jones W, Klin A, Edwards LA. {{Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life}}. {J Autism Dev Disord};2020 (Oct 3)
Infants show shifting patterns of visual engagement to faces over the first years of life. To explore the adaptive implications of this engagement, we collected eye-tracking measures on cross-sectional samples of 10-25-month-old typically developing toddlers (TD;N = 28) and those with autism spectrum disorder (ASD;N = 54). Concurrent language assessments were conducted and relationships between visual engagement and expressive and receptive language were analyzed between groups, and within ASD subgroups. TD and ASD toddlers exhibited greater mouth- than eye-looking, with TD exhibiting higher levels of mouth-looking than ASD. Mouth-looking was positively associated with expressive language in TD toddlers, and in ASD toddlers who had acquired first words. Mouth-looking was unrelated to expressive language in ASD toddlers who had not yet acquired first words.
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6. Happé F, Frith U. {{Dimensional or Categorical Approaches to Autism? Both are Needed. A Reply to Nick Chown and Julia Leatherland}}. {J Autism Dev Disord};2020 (Oct 1)
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7. Ilan M, Meiri G, Manelis-Baram L, Faroy M, Michaelovski A, Flusser H, Binoun-Chaki H, Segev-Cojocaru R, Dotan O, Schtaierman H, Menashe I, Dinstein I. {{Young Autism Spectrum Disorder Children in Special and Mainstream Education Settings Have Similar Behavioral Characteristics}}. {Autism Res};2020 (Oct 1)
In many countries, parents can place autism spectrum disorder (ASD) children in either mainstream or special education settings, which differ in their ability to provide structured early intervention programs. There are no clear guidelines for how to make initial placement decisions and ongoing debate about the benefits and drawbacks of each educational setting. Previous studies have mostly examined placement of school-age children and reported that those with poorer cognitive abilities and more severe ASD symptoms tend to be placed in special education. The placement of younger children has rarely been studied. Here, we utilized the database at the National Autism Research Center of Israel to examine whether ASD severity, cognitive abilities, and parent education influenced the placement of 242 children. We performed the analyses separately for 1-3-year-old children who were placed in daycare centers and 3-5-year-old children who were placed in pre-school kindergartens. Our analyses revealed surprisingly small differences across special and mainstream education settings, particularly in daycare centers. Cognitive scores and parent education were significantly higher in ASD children placed in mainstream education, but these differences were of moderate effect size and explained a relatively small percentage of the variability in placement choices (<15%). Indeed, we found considerable overlap in the characteristics of ASD children across educational settings, which suggests that initial placement decisions are performed with little regard to the children's abilities. Given the importance of optimal early intervention, further studies are warranted to determine whether children with specific abilities and needs benefit more from placement in either educational setting. LAY SUMMARY: Currently, there are no clear recommendations for placing young children with ASD in special versus mainstream education settings. We examined the influence of ASD severity, cognitive abilities, and parent education on the initial placement of 242 children. While we found significantly higher cognitive scores and parental education in children placed in mainstream education, there was a remarkable overlap in the characteristics of children across both settings, suggesting that initial placement is performed with limited regard to the children's abilities. Lien vers le texte intégral (Open Access ou abonnement)
8. Jose C, George-Zwicker P, Tardif L, Bouma A, Pugsley D, Pugsley L, Bélanger M, Gaudet J, Robichaud M. {{« We are the stakeholders with the most at stake »: scientific and autism community co-researchers reflect on their collaborative experience in the CONNECT project}}. {Res Involv Engagem};2020;6:58.
BACKGROUND: Little research describes the everyday challenges and needs of autistic adults. In order to fill this data gap, the CONtiNuity of carE and support for autistiC adulTs (CONNECT) project set out to learn about the health and well-being of autistic adults as well as their service and support needs. To do so, CONNECT welcomed autistic adults and caregivers of autistic adults as members of the research team, alongside researchers, policy-makers, service providers and health professionals. Autistic adults were involved in every stage of the research project and participated in team meetings held several times a year as well as in numerous email exchanges. METHODS: Two feedback questionnaires were designed for this study: one for the scientific co-researchers and one for the autism community co-researchers (the project’s « patient partners »). Although the surveys varied from one another, they probed respondents to provide critical and constructive comments on issues that were central to their engagement in CONNECT. Four scientific co-researchers and four autism community co-researchers filled out the questionnaires. A comparative analysis was carried out on the responses provided to the open- and closed-ended survey questions as well as on complimentary data collected from the team’s documents. RESULTS: CONNECT was seen as a positive experience for both groups. Highlights included: helping tailor and design research and its relevant materials to better suit the needs of the autistic community; establishing relationships and creating long-lasting friendships with other autistic adults; gaining a better understanding of the research process; and forging new connections with regional, national and international stakeholders. Areas for improvement include: establishing clear roles, responsibilities and expectations from the start; outlining a strategy to address unforeseen changes in project leadership; and creating a platform allowing for the involvement and participation of a more representative sample of adults on the autism spectrum. CONCLUSIONS: While not without its challenges, CONNECT demonstrates that a collaborative multi-stakeholder approach engaging autistic adults can be an effective model for conducting research on adult autism. Autistic adults and their caregivers can make the research process more open and accessible and make its outputs more relevant, useful and meaningful to the wider autistic adult community.
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9. Shukla T, de la Peña JB, Perish JM, Ploski JE, Stumpf CR, Webster KR, Thorn CA, Campbell ZT. {{A Highly Selective MNK Inhibitor Rescues Deficits Associated with Fragile X Syndrome in Mice}}. {Neurotherapeutics};2020 (Oct 1)
Fragile X syndrome (FXS) is the most common inherited source of intellectual disability in humans. FXS is caused by mutations that trigger epigenetic silencing of the Fmr1 gene. Loss of Fmr1 results in increased activity of the mitogen-activated protein kinase (MAPK) pathway. An important downstream consequence is activation of the mitogen-activated protein kinase interacting protein kinase (MNK). MNK phosphorylates the mRNA cap-binding protein, eukaryotic initiation factor 4E (eIF4E). Excessive phosphorylation of eIF4E has been directly implicated in the cognitive and behavioral deficits associated with FXS. Pharmacological reduction of eIF4E phosphorylation is one potential strategy for FXS treatment. We demonstrate that systemic dosing of a highly specific, orally available MNK inhibitor, eFT508, attenuates numerous deficits associated with loss of Fmr1 in mice. eFT508 resolves a range of phenotypic abnormalities associated with FXS including macroorchidism, aberrant spinogenesis, and alterations in synaptic plasticity. Key behavioral deficits related to anxiety, social interaction, obsessive and repetitive activities, and object recognition are ameliorated by eFT508. Collectively, this work establishes eFT508 as a potential means to reverse deficits associated with FXS.
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10. Solomon M, Gordon A, Iosif AM, Geddert R, Krug MK, Mundy P, Hessl D. {{Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders}}. {Autism Res};2020 (Oct 2)
Despite the clinically significant impact of executive dysfunction on the outcomes of adolescents and young adults with autism spectrum disorders (ASD), we lack a clear understanding of its prevalence, profile, and development. To address this gap, we administered the NIH Toolbox Cognition Battery to a cross-sectional Intelligence Quotient (IQ) case-matched cohort with ASD (n = 66) and typical development (TD; n = 66) ages 12-22. We used a general linear model framework to examine group differences in task performance and their associations with age. Latent profile analysis (LPA) was used to identify subgroups of individuals with similar cognitive profiles. Compared to IQ case-matched controls, ASD demonstrated poorer performance on inhibitory control (P < 0.001), cognitive flexibility (P < 0.001), episodic memory (P < 0.02), and processing speed (P < 0.001) (components of Fluid Cognition), but not on vocabulary or word reading (components of Crystallized Cognition). There was a significant positive association between age and Crystallized and Fluid Cognition in both groups. For Fluid (but not Crystallized) Cognition, ASD performed more poorly than TD at all ages. A four-group LPA model based on subtest scores best fit the data. Eighty percent of ASD belonged to two groups that exhibited relatively stronger Crystallized versus Fluid Cognition. Attention deficits were not associated with Toolbox subtest scores, but were lowest in the group with the lowest proportion of autistic participants. Adaptive functioning was poorer in the groups with the greatest proportion of autistic participants. Autistic persons are especially impaired on Fluid Cognition, and this more flexible form of thinking remains poorer in the ASD group through adolescence. LAY SUMMARY: A set of brief tests of cognitive functioning called the NIH Toolbox Cognition Battery was administered to adolescents and young adults with autism spectrum disorders (ASD; n = 66) and typical development (TD; n = 66) ages 12-22 years. Compared to TD, ASD showed poorer performance in inhibiting responses, acting flexibly, memorizing events, and processing information quickly (Fluid Cognition). Groups did not differ on vocabulary or word reading (Crystallized Cognition). Crystallized and Fluid Cognition increased with age in both groups, but the ASD group showed lower Fluid, but not Crystallized, Cognition than TD at all ages. A categorization analysis including all participants showed that most participants with ASD fell into one of two categories: a group characterized by poor performance across all tasks, or a group characterized by relatively stronger Crystallized compared to Fluid Cognition. Adaptive functioning was poorer for participants in these groups, which consisted of mostly individuals with ASD, while ADHD symptoms were lowest in the group with the greatest proportion of TD participants. Lien vers le texte intégral (Open Access ou abonnement)
11. Verlenden JV, Bertolli J, Warner L. {{Contraceptive Practices and Reproductive Health Considerations for Adolescent and Adult Women with Intellectual and Developmental Disabilities: A Review of the Literature}}. {Sex Disabil};2019 (Oct);37(4):541-557.
Whereas progress has been made on increasing access to comprehensive healthcare for individuals with intellectual and developmental disabilities (I/DD), disparities continue in health outcomes, including those related to the reproductive health of adolescent and adult women with I/DD. This review summarizes reproductive care considerations for adolescent and adult women with I/DD and current practices regarding the delivery of contraceptive services to these women. Forty-seven (47) articles based on research conducted in the US between 1999 and 2019 were selected for inclusion in the review. Primary themes discussed include (1) common reproductive health concerns for adolescent and adult women with I/DD, other than pregnancy prevention; (2) contraceptive methods and disability-related concerns; (3) informed consent and reproductive decision-making; and (4) provider knowledge and education. The management of menses and hormonal dysregulation were identified as concerns that providers encounter among patients with I/DD and their families. Disability-related concerns with regard to use of contraception in general and considerations regarding certain methods in particular include challenges with prescription adherence, physical effects of hormonal therapies, drug interactions for individuals with additional health conditions, and legal and ethical concerns involved with decision-making and consent. The results of this review also suggest that focused efforts in partnership with health care providers may be needed to address barriers that adolescent and adult women with I/DD face when trying to obtain quality reproductive health services and contraceptive guidance.
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12. Zheng Z, Zheng P, Zou X. {{Peripheral Blood S100B Levels in Autism Spectrum Disorder: A Systematic Review and Meta-Analysis}}. {J Autism Dev Disord};2020 (Oct 2)
The S100 calcium-binding protein beta subunit (S100B) protein, which mostly exists in the central nervous system, is commonly noted as a marker of neuronal damage. We conducted the first systematic review with meta-analysis to compare peripheral blood S100B levels in individuals with ASD with those in healthy controls. A systematic search was carried out for studies published before May 5, 2020. In total, this meta-analysis involved ten studies with 822 participants and 451 cases. The meta-analysis revealed that individuals with ASD had higher peripheral blood S100B levels than healthy controls [standardized mean difference (SMD) = 0.97, 95% confidence interval (95% CI) = 0.41-1.53; p < 0.001]. Peripheral blood S100B levels may have potential as a useful biomarker for ASD. Lien vers le texte intégral (Open Access ou abonnement)
