1. Cashin A. {{The Transition from University Completion to Employment for Students with Autism Spectrum Disorder}}. {Issues in mental health nursing}. 2018: 1-4.
A scoping review of articles published from 2000 to 2017 was conducted with the aim to identify what had been discussed and researched related to the transition from completion of university to employment for students with ASD. The review also included identification of published data on the type of degrees studied by university students with ASD. A paucity of discussion and no specific research was identified related to the aims of the review.
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2. de Boer A, Vermeulen K, Egger JIM, Janzing JGE, de Leeuw N, Veenstra-Knol HE, den Hollander NS, van Bokhoven H, Staal W, Kleefstra T. {{EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction}}. {Mol Autism}. 2018; 9: 5.
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. A few parents with a mosaic EHMT1 mutation have been detected upon testing after a child was diagnosed with a germline EHMT1 defect. At first glance, carriers of a mosaic EHMT1 mutation appeared to function normally. However, recent studies have shown that de novo, postzygotic mutations in important developmental genes significantly contribute to autism spectrum disorder (ASD). Therefore, we hypothesized that EHMT1 mosaicism could cause neuropsychiatric defects. To investigate this, we performed a detailed investigation of cognitive neuropsychiatric parameters in parents identified with EHMT1 mosaicism. Methods: Three adults (two males, one female) with a genetically confirmed diagnosis of EHMT1 mosaicism were examined by means of a battery of tests and observational instruments covering both neurocognitive and psychiatric features. The battery included the following instruments: the Autism Diagnostic Observation Schedule (ADOS), the mini Psychiatric Assessment Schedules for Adults with Developmental Disabilities (mini PAS-ADD), the Vineland Adaptive Behavior Scales (VABS), and the Cambridge Neuropsychological Test Automated Battery (CANTAB). These measures were compared with our previously reported data from Kleefstra syndrome patients with confirmed (germline) EHMT1 defects. Results: All three subjects achieved maximum total scores on the VABS, indicative of adequate (adaptive) functioning. In all, scores above cutoff were found on the ADOS for ASD and on the mini PAS-ADD for major depressive disorder (lifetime). Finally, results on the CANTAB showed impaired cognitive flexibility in all subjects. Conclusion: Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD and mood disorders. Although at first glance they appear to be well-adapted in their daily functioning, they may experience significant psychiatric symptoms and show reduced cognitive flexibility in comparison to the general population.
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3. Epperson MV, Haws ME, Standridge SM, Gilbert DL. {{An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A}}. {Journal of child neurology}. 2018; 33(4): 286-9.
BACKGROUND: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described. CONCLUSION: CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.
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4. George R, Stokes MA. {{A Quantitative Analysis of Mental Health Among Sexual and Gender Minority Groups in ASD}}. {J Autism Dev Disord}. 2018.
There is increased mental-health adversity among individuals with autism spectrum disorder. At the same time, sexual and gender minority groups experience poorer mental-health when compared to heteronormative populations. Recent research suggests that autistic individuals report increased non-heterosexuality and gender-dysphoric traits. The current study aimed to investigate whether as membership of minority grouping becomes increasingly narrowed, mental health worsened. The present study compared the rates of depression, anxiety, and stress using the DASS-21 and Personal Well-Being using the personal well-being index between 261 typically-developing individuals and 309 autistic individuals. As membership to a minority group became more restrictive, mental health symptoms worsened (p < .01), suggesting stressors added. Specialized care is recommended for this vulnerable cohort. Lien vers le texte intégral (Open Access ou abonnement)
5. Na ES, De Jesus-Cortes H, Martinez-Rivera A, Kabir ZD, Wang J, Ramesh V, Onder Y, Rajadhyaksha AM, Monteggia LM, Pieper AA. {{Correction: D-cycloserine improves synaptic transmission in an animal mode of Rett syndrome}}. {PLoS One}. 2018; 13(1): e0192057.
[This corrects the article DOI: 10.1371/journal.pone.0183026.].
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6. Pellicano L, Mandy W, Bolte S, Stahmer A, Lounds Taylor J, Mandell DS. {{A new era for autism research, and for our journal}}. {Autism}. 2018; 22(2): 82-3.
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7. Qiao Y, Wu M, Feng Y, Zhou Z, Chen L, Chen F. {{Alterations of oral microbiota distinguish children with autism spectrum disorders from healthy controls}}. {Sci Rep}. 2018; 8(1): 1597.
Altered gut microbiota is associated with autism spectrum disorders (ASD), a group of complex, fast growing but difficult-to-diagnose neurodevelopmental disorders worldwide. However, the role of the oral microbiota in ASD remains unexplored. Via high-throughput sequencing of 111 oral samples in 32 children with ASD and 27 healthy controls, we demonstrated that the salivary and dental microbiota of ASD patients were highly distinct from those of healthy individuals. Lower bacterial diversity was observed in ASD children compared to controls, especially in dental samples. Also, principal coordinate analysis revealed divergences between ASD patients and controls. Moreover, pathogens such as Haemophilus in saliva and Streptococcus in plaques showed significantly higher abundance in ASD patients, whereas commensals such as Prevotella, Selenomonas, Actinomyces, Porphyromonas, and Fusobacterium were reduced. Specifically, an overt depletion of Prevotellaceae co-occurrence network in ASD patients was obtained in dental plaques. The distinguishable bacteria were also correlated with clinical indices, reflecting disease severity and the oral health status (i.e. dental caries). Finally, diagnostic models based on key microbes were constructed, with 96.3% accuracy in saliva. Taken together, this study characterized the habitat-specific profile of the oral microbiota in ASD patients, which might help develop novel strategies for the diagnosis of ASD.
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8. Raz A, Jongsma KR, Rimon-Zarfaty N, Spath E, Bar-Nadav B, Vaintropov E, Schicktanz S. {{Representing autism: Challenges of collective representation in German and Israeli associations for and of autistic people}}. {Social science & medicine (1982)}. 2018; 200: 65-72.
The important work done by various associations of and for people with disabilities is legitimated by their claim for collective representation. However, there is little empirical research that examines the organizational basis for such claims. We focus on patient/disability advocacy associations that illustrate a split of representation between organizations of and for autism. Drawing on documentary analysis and semi-structured interviews conducted in 2015-2017 with members and office-holders of autism associations in Germany and Israel, we highlight several common gaps and their relations to the organizational characteristics of the associations: Representing only part of the autism spectrum, and lack of efficient procedures for including the variety of members. We conclude by discussing the language and epistemology of « high-functioning »/ »Aspies » vs. « low-functioning »/ »Kanners » as politically and culturally embedded, highlighting the significance and difficulties of dialogue amidst autism-related epistemic communities.
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9. Roberts JMA, Adams D, Heussler H, Keen D, Paynter J, Trembath D, Westerveld M, Williams K. {{Protocol for a prospective longitudinal study investigating the participation and educational trajectories of Australian students with autism}}. {BMJ Open}. 2018; 8(1): e017082.
INTRODUCTION: Autism is associated with high cost to individuals, families, communities and government. Understanding educational and participation trajectories during the school years, and factors influencing these, is fundamental to reducing financial and personal costs. The primary aim of this study is to document the trajectories of Australian students with autism during their education. The secondary aim is to examine personal (eg, student skills) and environmental (eg, school setting) factors associated with differing trajectories and outcomes. METHODS AND ANALYSIS: The cross-sequential longitudinal study will recruit two cohorts of 120 parents/caregivers of children with autism. Cohort 1 aged between 4 and 5 years and cohort 2 between 9 and 10 years to start the study. Information will be gathered from parents, teachers and school principals at six annual time points (T1 to T6). Parents will be emailed a link to an online initial questionnaire (T1) and then contacted annually and asked to complete either an extended questionnaire (T3, T5 and T6) or an abbreviated questionnaire (T2, T4). Where consent is given, the child’s current school will be contacted annually (T1 to T6) and teacher and school principal asked to complete questionnaires about the child and school. Parent and school questionnaires are comprised of questions about demographic and school factors that could influence trajectories and a battery of developmental and behavioural assessment tools designed to assess educational and participation trajectories and outcomes. Surveys will provide longitudinal data on educational and participation trajectories for children and adolescents with autism. In addition cross-sectional comparisons (within or between age groups) at each time point and cohort effects will be explored. ETHICS AND DISSEMINATION: Ethics approvals have been granted for this study by all recruiting sites and universities in the project. Study findings will inform policy and practice to promote successful inclusion and participation of children with autism in education. Results will be disseminated through journal publication, conference and seminar presentation.
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10. Russo L, Ruggiero M, Trabacca A. {{Autism: the solar rainbow spectrum}}. {Minerva pediatrica}. 2018; 70(1): 103-4.
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11. Sukasem C, Vanwong N, Srisawasdi P, Ngamsamut N, Nuntamool N, Hongkaew Y, Puangpetch A, Chamkrachangpada B, Limsila P. {{Pharmacogenetics of Risperidone-Induced Insulin Resistance in Children and Adolescents with Autism Spectrum Disorder}}. {Basic & clinical pharmacology & toxicology}. 2018.
The purpose of this study was to explore the association of genetic polymorphism of genes related to pharmacokinetics or pharmacodynamics with insulin resistance in children and adolescents with autism spectrum disorder (ASD) and treated with risperidone. All 89 subjects underwent measurement of fasting blood glucose and insulin levels, body weight and height. Genotyping was performed by Taqman real-time polymerase chain reaction (PCR) (pharmacokinetics genes: cytochrome P450 2D6 (CYP2D6) *4 (rs3892097), *5 (gene deletion), *10 (rs1065852), and *41 (rs28371725), ATP-binding cassette transporter B1 (ABCB1) 2677 G>T/A (rs2032582) and 3435C>T (rs1045642), and pharmacodynamics genes: dopamine receptor D2 (DRD2) Tag-SNP (C>T) (rs4436578), DRD2 Tag1A (C>T) (rs1800497), leptin gene (LEP) -2548G>A (rs7799039), ghrelin gene (GHRL) -604G>A (rs27647), and brain-derived neurotrophic factor (BDNF) 196G>A (rs6265). Drug levels were analysed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The results revealed that five percent of the patients presented with hyperglycaemia. Insulin resistance was detected in 16 percent of the patients. Insulin resistance was associated with LEP 2548 G>A and BDNF 196 G>A polymorphism (P=0.01 and P=0.03). There was no association of pharmacokinetic gene polymorphisms (CYP2D6 and ABCB1) and risperidone levels with insulin resistance. Multiple regression analysis indicated that BDNF 196 G>A polymorphism was significantly associated with insulin resistance (P=0.025). This finding suggested that BDNF 196 G>A polymorphism may be a genetic marker for predicting insulin resistance before initiating treatment in patients treated with risperidone. Because of the small sample size, further studies are needed to confirm these results. This article is protected by copyright. All rights reserved.
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12. Ullman JC, Yang J, Sullivan M, Bendor J, Levy J, Pham E, Silm K, Seifikar H, Sohal VS, Nicoll RA, Edwards RH. {{A mouse model of autism implicates endosome pH in the regulation of presynaptic calcium entry}}. {Nat Commun}. 2018; 9(1): 330.
Psychoactive compounds such as chloroquine and amphetamine act by dissipating the pH gradient across intracellular membranes, but the physiological mechanisms that normally regulate organelle pH remain poorly understood. Interestingly, recent human genetic studies have implicated the endosomal Na(+)/H(+) exchanger NHE9 in both autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD). Plasma membrane NHEs regulate cytosolic pH, but the role of intracellular isoforms has remained unclear. We now find that inactivation of NHE9 in mice reproduces behavioral features of ASD including impaired social interaction, repetitive behaviors, and altered sensory processing. Physiological characterization reveals hyperacidic endosomes, a cell-autonomous defect in glutamate receptor expression and impaired neurotransmitter release due to a defect in presynaptic Ca(2+) entry. Acute inhibition of synaptic vesicle acidification rescues release but without affecting the primary defect due to loss of NHE9.
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13. Winden KD, Ebrahimi-Fakhari D, Sahin M. {{Abnormal mTOR Activation in Autism}}. {Annual review of neuroscience}. 2018.
The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular processes and cell growth. Abnormalities in this pathway have been identified in several syndromes in which autism spectrum disorder (ASD) is highly prevalent. Several studies have investigated mTOR signaling in developmental and neuronal processes that, when dysregulated, could contribute to the development of ASD. Although many potential mechanisms still remain to be fully understood, these associations are of great interest because of the clinical availability of mTOR inhibitors. Clinical trials evaluating the efficacy of mTOR Expected final online publication date for the Annual Review of Neuroscience Volume 41 is July 8, 2018. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
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14. Zaidman-Zait A, Mirenda P, Szatmari P, Duku E, Smith IM, Vaillancourt T, Volden J, Waddell C, Bennett T, Zwaigenbaum L, Elsabaggh M, Georgiades S. {{Profiles of Social and Coping Resources in Families of Children with Autism Spectrum Disorder: Relations to Parent and Child Outcomes}}. {J Autism Dev Disord}. 2018.
This study described empirically derived profiles of parents’ personal and social coping resources in a sample of 207 families of children diagnosed with autism spectrum disorder. Latent Profile Analysis identified four family profiles based on socieoeconomic risk, coping strategy utilization, family functioning, available social supports, and perceptions of family-centered support. During the time of children’s transition to school, parents in the most disadvantaged group experienced the highest levels of parenting stress and depression, and their children had significantly lower adaptive behaviour scores and more parent-reported behavior problems than children in the other three groups. Results highlight the need for systematic surveillance of family risk factors so that supports can be provided to enhance both parental well-being and children’s developmental health.
