Pubmed du 13/06/20

samedi 13 juin 2020

1. Bush HH, Williams LW, Mendes E. Brief Report : Asexuality and Young Women on the Autism Spectrum. J Autism Dev Disord ;2020 (Jun 13)

Existing research suggests that people with Autism Spectrum Disorder (ASD) are more likely than those without ASD to self-identify as asexual, or as being on the asexual spectrum. This study contributes to the literature by exploring aspects of sexuality and well-being in a large, community-based sample of young women (18-30 years old) with ASD (N = 247) and comparing the experiences of those with asexual spectrum identities and those with other sexual orientations (e.g., gay, bisexual, heterosexual). In the present sample, asexual participants reported less sexual desire and fewer sexual behaviors than those with other sexual orientations, but greater sexual satisfaction. Being on the asexual spectrum also was associated with lower generalized anxiety symptoms. Clinical and research implications are discussed.

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2. Caruso A, Ricceri L, Scattoni ML. Ultrasonic vocalizations as a fundamental tool for early and adult behavioral phenotyping of Autism Spectrum Disorder rodent models. Neurosci Biobehav Rev ;2020 (Jun 13)

In rodent models of Autism Spectrum Disorders (ASD), the study of ultrasonic vocalizations has provided the unique opportunity to evaluate social communication and interaction in ethologically-appropriate contexts, behavioral domains relevant to the first core symptom of ASD. In the present review, we selected and evaluated ultrasonic vocalizations’ data collected in rodent models of ASD in different experimental settings, either in the neonatal phase or in adulthood. Both quantitative (calling rates) and qualitative (range and shape of the vocal repertoire) abnormalities have been evidenced. The aim of our work was to highlight several promises and a few caveats in the use of ultrasonic vocalizations for behavioral phenotyping of ASD models and give some suggestions to maximize the translational value of these studies.

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3. Chown N, Leatherland J. Can a Person be ’A Bit Autistic’ ? A Response to Francesca Happé and Uta Frith. J Autism Dev Disord ;2020 (Jun 13)

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4. Gevarter C, Horan K, Sigafoos J. Teaching Preschoolers With Autism to Use Different Speech-Generating Device Display Formats During Play : Intervention and Secondary Factors. Lang Speech Hear Serv Sch ;2020 (Jun 12):1-18.

Purpose Children with autism spectrum disorder (ASD) and complex communication needs are increasingly taught to use tablet-based speech-generating devices (SGDs). An important issue in designing such interventions is the selection of an appropriate format for displaying vocabulary. The purpose of this study was to determine (a) whether young children with ASD can be taught to use different SGD vocabulary display formats and (b) whether there are differences across the formats on a range of secondary measures (e.g., preference and generalization). Method Five preschoolers with ASD (and prior experience with simpler aided augmentative and alternative communication) were taught to use grid and visual scene display SGDs during a play-based intervention. Acquisition of functional responding was assessed using a single-case experimental design. Secondary variables included error types, antecedents for communication, preference, and generalization. Results All participants increased their use of functional target vocabulary using both the grid and the simple visual scene display. Of the five participants, three showed similar performance with both formats, whereas two had slightly higher rates of functional responding with the grid. Individualized differences across participants and formats were apparent across secondary variables (e.g., preference, error types, generalization). Conclusions Both simple grid and visual scene displays may be viable options when teaching functional use of SGDs to children with ASD who have prior aided augmentative and alternative communication experience. Analyzing secondary variables beyond device acquisition (e.g., generalization, preference) may have implications for individualizing intervention.

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5. Kramvis I, van Westen R, Lammertse HCA, Riga D, Heistek TS, Loebel A, Spijker S, Mansvelder HD, Meredith RM. Dysregulated Prefrontal Cortex Inhibition in Prepubescent and Adolescent Fragile X Mouse Model. Front Mol Neurosci ;2020 ;13:88.

Changes in excitation and inhibition are associated with the pathobiology of neurodevelopmental disorders of intellectual disability and autism and are widely described in Fragile X syndrome (FXS). In the prefrontal cortex (PFC), essential for cognitive processing, excitatory connectivity and plasticity are found altered in the FXS mouse model, however, little is known about the state of inhibition. To that end, we investigated GABAergic signaling in the Fragile X Mental Retardation 1 (FMR1) knock out (Fmr1-KO) mouse medial PFC (mPFC). We report changes at the molecular, and functional levels of inhibition at three (prepubescence) and six (adolescence) postnatal weeks. Functional changes were most prominent during early postnatal development, resulting in stronger inhibition, through increased synaptic inhibitory drive and amplitude, and reduction of inhibitory short-term synaptic depression. Noise analysis of prepubescent post-synaptic currents demonstrated an increased number of receptors opening during peak current in Fmr1-KO inhibitory synapses. During adolescence amplitudes and plasticity changes normalized, however, the inhibitory drive was now reduced in Fmr1-KO, while synaptic kinetics were prolonged. Finally, adolescent GABA(A) receptor subunit α2 and GABA(B) receptor subtype B1 expression levels were different in Fmr1-KOs than WT littermate controls. Together these results extend the degree of synaptic GABAergic alterations in FXS, now to the mPFC of Fmr1-KO mice, a behaviourally relevant brain region in neurodevelopmental disorder pathology.

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6. Liao X, Liu Y, Fu X, Li Y. Postmortem Studies of Neuroinflammation in Autism Spectrum Disorder : a Systematic Review. Mol Neurobiol ;2020 (Jun 11)

Although the neurobiological basis for autism spectrum disorder (ASD) has not yet been fully clarified, converging lines of evidence implicated a role of neuroinflammation in the etiological pathway of this disorder. The present article provided a systematic review of publications regarding the involvement of different components of neuroinflammation in postmortem brain samples of subjects diagnosed with ASD. A systematic search of PubMed, Embase, and Web of Science was conducted, which was supplemented by manual searching of reference lists of included articles. The screening for study and extraction of data were conducted by two independent authors after reviewing the abstract and full text. Of 356 articles identified in the literature search, 27 articles comprising 685 subjects (ASD = 313, controls = 351, schizophrenia = 10, epilepsy = 11) covering 19 brain regions met the eligibility criteria for this review. The search yielded 11 studies that estimated astrocyte-related changes, 8 studies that reported microglia-related changes, 2 studies that evaluated oligodendrocyte-related changes, 3 studies that examined changes in glial cells without differentiating cell types, 6 studies that evaluated the levels of cytokines and chemokines, and 7 studies that measured other inflammatory parameters in postmortem brain samples of subjects with ASD compared with controls. Although a few studies noted a lack of changes in neuroinflammatory markers in postmortem brain samples of ASD subjects, the majority of studies supported the presence of neuroinflammation in the neurobiological pattern of ASD as shown by activation of astrocytes and microglia together with abnormal levels of cytokines and chemokines.

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7. Lilley R, Sedgwick M, Pellicano E. Inclusion, acceptance, shame and isolation : Attitudes to autism in Aboriginal and Torres Strait Islander communities in Australia. Autism ;2020 (Jun 12):1362361320928830.

There has been almost no research done about autism in Aboriginal and Torres Strait Islander communities in Australia. This article is the first detailed report on attitudes to autism in these communities. Understanding attitudes to autism is important because they influence whether or not children are diagnosed, as well as the kinds of support autistic people are getting. Twelve families who lived in different parts of Australia were interviewed. They told us that there is a range of attitudes to autism in Aboriginal and Torres Strait Islander communities. These include negative ideas such as sometimes feeling shame associated with children’s unusual behaviour, as well as feeling stigmatised and socially isolated. The negative attitudes reported may mean that some children are missing out on an autism diagnosis or being wrongly diagnosed with a different condition in these communities. They also included positive ideas such as the importance of looking after each other and of accepting autistic people and their differences. We can all learn from these positive attitudes. It will be interesting to know in future projects whether these accepting attitudes lead to better outcomes for autistic children and adults in these communities. This research helps us to understand how autism is thought about in different cultures and how attitudes impact diagnosis and support. It will also help people to plan supports that reflect what Aboriginal and Torres Strait Islander families actually want and need.

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8. Meilleur A, Foster NEV, Coll SM, Brambati SM, Hyde KL. Unisensory and multisensory temporal processing in autism and dyslexia : A systematic review and meta-analysis. Neurosci Biobehav Rev ;2020 (Jun 13)

This study presents a comprehensive systematic review and meta-analysis of temporal processing in autism spectrum disorder (ASD) and developmental dyslexia (DD), two neurodevelopmental disorders in which temporal processing deficits have been highly researched. The results provide strong evidence for impairments in temporal processing in both ASD (g = 0.48) and DD (g = 0.82), as measured by judgments of temporal order and simultaneity. In individual analyses, multisensory temporal processing was impaired for both ASD and DD, and unisensory auditory, visual and tactile processing were all impaired in DD. In ASD, speech stimuli showed moderate impairment effect sizes, whereas nonspeech stimuli showed small effects. Greater reading and spelling skills in DD were associated with greater temporal precision. Temporal deficits did not show changes with age in either disorder. In addition to more clearly defining temporal impairments in ASD and DD, the results highlight common and distinct patterns of temporal processing between these disorders. Deficits are discussed in relation to existing theoretical models, and recommendations are made for future research.

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9. Narzisi A. Phase 2 and Later of COVID-19 Lockdown : Is it Possible to Perform Remote Diagnosis and Intervention for Autism Spectrum Disorder ? An Online-Mediated Approach. J Clin Med ;2020 (Jun 13) ;9(6)

COVID-19 is still in phase 2. The lockdown has been significantly reduced compared to phase 1. The centers and institutions that deal with the diagnosis and intervention of children with autism spectrum disorder (ASD) require rapid functional adaptation to respond to patients’ needs. The possibility of using technology to activate and manage diagnostic (preliminary diagnosis) and intervention processes should be explored. Two developed telemedicine working models for diagnosis and intervention, including synchronous and asynchronous transmissions, are presented. They are proposals not yet supported by the data. The diagnosis step is composed by two different and consecutives phases : (A) pre-specialistic consultation (PSC) and (B) specialistic assessment. The intervention step implemented well-recognized evidence-based models for preschoolers, school-aged, and older children in an online format. Parents’ support is also included. The described working models have the purpose of carrying out preliminary specialistic answers to the families without aiming to replace preferable in-person assessment. Based on previous research findings, the telemedicine approach is accepted by parents, increases their sense of competence, increases the parent intervention adhesion, and improves the social communication competencies for children with ASD. In conclusion, the presented working models must be considered partial responses to the current emergency status and at the same time as possible integrations into traditional approaches.

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10. Rajkumar D, Manokaran RK, Shubha S, Shruthi TK. Phenytoin Induced Status Dystonicus : A Rare Manifestation of Phenytoin Toxicity in a Child with Autism Spectrum Disorder. Indian J Pediatr ;2020 (Jun 12)

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11. Sun JM, Dawson G, Franz L, Howard J, McLaughlin C, Kistler B, Waters-Pick B, Meadows N, Troy J, Kurtzberg J. Infusion of human umbilical cord tissue mesenchymal stromal cells in children with autism spectrum disorder. Stem Cells Transl Med ;2020 (Jun 12)

Ongoing neuroinflammation may contribute to symptoms of autism spectrum disorder (ASD) in at least a portion of affected individuals. Mesenchymal stromal cells (MSCs) have demonstrated the capacity to modulate neuroinflammation, but safety and feasibility of MSC administration in children with ASD have not been well established. In this open-label, phase I study, 12 children with ASD between 4 and 9 years of age were treated with intravenous (IV) infusions of human cord tissue mesenchymal stromal cells (hCT-MSCs), a third-party MSC product manufactured from unrelated donor umbilical cord tissue. Children received one, two, or three doses of 2 × 10(6) cells per kilogram at 2-month intervals. Clinical and laboratory evaluations were performed in person at baseline and 6 months and remotely at 12 months after the final infusion. Aside from agitation during the IV placement and infusion in some participants, hCT-MSCs were well tolerated. Five participants developed new class I anti-human leukocyte antigen (HLA) antibodies, associated with a specific lot of hCT-MSCs or with a partial HLA match between donor and recipient. These antibodies were clinically silent and not associated with any clinical manifestations to date. Six of 12 participants demonstrated improvement in at least two ASD-specific measures. Manufacturing and administration of hCT-MSCs appear to be safe and feasible in young children with ASD. Efficacy will be evaluated in a subsequent phase II randomized, placebo-controlled clinical trial.

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12. Torrico B, Antón-Galindo E, Fernàndez-Castillo N, Rojo-Francàs E, Ghorbani S, Pineda-Cirera L, Hervás A, Rueda I, Moreno E, Fullerton JM, Casadó V, Buitelaar JK, Rommelse N, Franke B, Reif A, Chiocchetti AG, Freitag C, Kleppe R, Haavik J, Toma C, Cormand B. Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia : Genetics, Transcriptomics and Functional Analyses. J Clin Med ;2020 (Jun 13) ;9(6)

The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) through a whole-exome sequencing study, which identified a frameshift variant within the gene (c.659-660insT, p.L220Ffs*18). Here, we explored the contribution of the seven human 14-3-3 family members in ASD and other psychiatric disorders by investigating the : (i) functional impact of the 14-3-3ζ mutation p.L220Ffs*18 by assessing solubility, target binding and dimerization ; (ii) contribution of common risk variants in 14-3-3 genes to ASD and additional psychiatric disorders ; (iii) burden of rare variants in ASD and schizophrenia ; and iv) 14-3-3 gene expression using ASD and schizophrenia transcriptomic data. We found that the mutant 14-3-3ζ protein had decreased solubility and lost its ability to form heterodimers and bind to its target tyrosine hydroxylase. Gene-based analyses using publicly available datasets revealed that common variants in YWHAE contribute to schizophrenia (p = 6.6 × 10(-7)), whereas ultra-rare variants were found enriched in ASD across the 14-3-3 genes (p = 0.017) and in schizophrenia for YWHAZ (meta-p = 0.017). Furthermore, expression of 14-3-3 genes was altered in post-mortem brains of ASD and schizophrenia patients. Our study supports a role for the 14-3-3 family in ASD and schizophrenia.

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13. van der Zee E, Derksen JJL. The Power of Systemizing in Autism. Child Psychiatry Hum Dev ;2020 (Jun 11)

Identifying autism in clinical practice is complex because the causes of autism are still unclear and the features of autism are highly diverse. The Empathizing-Systemizing theory is successful in interpreting the core features of autism, both social and non-social, compared to other current theories of autism. This study provides an overview of the current state of research regarding the systemizing concept. High systemizing abilities are characteristic and specific in autism and as a result, three non-social features of autism are seen : restricted and repetitive behavior, obsessional interests, and, savant skills. We found solid evidence that, in order to identify autism in clinical practice, at least the use of an instrument which is specialized in measuring one’s systemizing abilities is required.

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14. Whittingham L, Durbin A, Lin E, Matheson FI, Volpe T, Dastoori P, Calzavara A, Lunsky Y, Kouyoumdjian F. The prevalence and health status of people with developmental disabilities in provincial prisons in Ontario, Canada : A retrospective cohort study. J Appl Res Intellect Disabil ;2020 (Jun 11)

BACKGROUND : The present authors lack data on the prevalence of developmental disabilities in people who experience imprisonment and on their characteristics. METHODS : The present authors identified adults with developmental disabilities who were released from Ontario provincial prisons in 2010 and a general population comparator group using administrative data. The present authors examined demographic characteristics, morbidity and healthcare use. RESULTS : The prevalence of developmental disabilities was 2.2% in the prison group (N = 52,302) and 0.7% in the general population (N = 10,466,847). The prevalence of psychotic illness, substance-related disorder and self-harm was higher among people in the prison group with developmental disabilities. People with developmental disabilities were more likely to have emergency department visits and hospitalizations in prison and in the year after release. CONCLUSIONS : People with developmental disabilities are overrepresented in provincial prisons and have a high burden of disease. Strategies are indicated to prevent incarceration and to improve health.

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