1. Belek B. {{Articulating Sensory Sensitivity: From Bodies with Autism to Autistic Bodies}}. {Medical anthropology}. 2018: 1-14.
Drawing on ethnographic evidence from several communities of autistic adults in the UK, I explore the crucial role of the body and the senses in the enactment of autistic subjectivities. Following their initiation into autism-related social groups, members begin using such concepts as triggers, overload, shutdown, and meltdown to refer to their bodily experiences of distress. They then face the task of investing these ambiguous concepts with meaning, through nurturing an increased awareness to their body’s relationship with its material surrounding. This cultivation of sensitivity ultimately culminates in the transformation of their bodies into what might be termed autistic bodies.
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2. Bertero A, Liska A, Pagani M, Parolisi R, Masferrer ME, Gritti M, Pedrazzoli M, Galbusera A, Sarica A, Cerasa A, Buffelli M, Tonini R, Buffo A, Gross C, Pasqualetti M, Gozzi A. {{Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human}}. {Brain}. 2018.
Human genetic studies are rapidly identifying variants that increase risk for neurodevelopmental disorders. However, it remains unclear how specific mutations impact brain function and contribute to neuropsychiatric risk. Chromosome 16p11.2 deletion is one of the most common copy number variations in autism and related neurodevelopmental disorders. Using resting state functional MRI data from the Simons Variation in Individuals Project (VIP) database, we show that 16p11.2 deletion carriers exhibit impaired prefrontal connectivity, resulting in weaker long-range functional coupling with temporal-parietal regions. These functional changes are associated with socio-cognitive impairments. We also document that a mouse with the same genetic deficiency exhibits similarly diminished prefrontal connectivity, together with thalamo-prefrontal miswiring and reduced long-range functional synchronization. These results reveal a mechanistic link between specific genetic risk for neurodevelopmental disorders and long-range functional coupling, and suggest that deletion in 16p11.2 may lead to impaired socio-cognitive function via dysregulation of prefrontal connectivity.
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3. Crawford H, Moss J, Stinton C, Singla G, Oliver C. {{Overactivity, impulsivity and repetitive behaviour in males with fragile X syndrome: contrasting developmental trajectories in those with and without elevated autism symptoms}}. {J Intellect Disabil Res}. 2018.
BACKGROUND: Hyperactivity and repetitive behaviour are characteristic features of fragile X syndrome (FXS). However, little is known about the influence of autism symptomatology on how these characteristics develop over time. We investigate the profiles and developmental trajectories of overactivity, impulsivity and repetitive behaviour, in males with FXS over three time points spanning 8 years. METHOD: Participants formed two subgroups, those who displayed elevated symptoms of autism at Time 1 (n = 37; Mage = 16.32; age range = 6.61-43.51) and those who did not (n = 32; Mage = 8.43; age range = 8.94-47.49). RESULTS: Participants without elevated symptoms of autism showed a reduction in impulsivity and repetitive questioning over time, whereas those with elevated symptoms of autism did not. Differences between the two subgroups in several topographies of repetitive behaviour emerged at Time 3 only. CONCLUSIONS: These results further understanding of the relationship between autistic phenomenology and behavioural characteristics in FXS.
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4. Gray KLH, Haffey A, Mihaylova HL, Chakrabarti B. {{Lack of Privileged Access to Awareness for Rewarding Social Scenes in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Reduced social motivation is hypothesised to underlie social behavioural symptoms of Autism Spectrum Disorder (ASD). The extent to which rewarding social stimuli are granted privileged access to awareness in ASD is currently unknown. We use continuous flash suppression to investigate whether individuals with and without ASD show privileged access to awareness for social over nonsocial rewarding scenes that are closely matched for stimulus features. Strong evidence for a privileged access to awareness for rewarding social over nonsocial scenes was observed in neurotypical adults. No such privileged access was seen in ASD individuals, and moderate support for the null model was noted. These results suggest that the purported deficits in social motivation in ASD may extend to early processing mechanisms.
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5. Hwang YI, Foley KR, Trollor JN. {{Aging Well on the Autism Spectrum: An Examination of the Dominant Model of Successful Aging}}. {J Autism Dev Disord}. 2018.
There is a gap in our knowledge of aging with autism. The present study examined the applicability of the popular gerontology concept of « aging well » to autistic adults. Using survey data, a model of « aging well » was operationalised and applied to 92 autistic adults and 60 controls. A very small proportion (3.3%) of autistic adults were found to be aging well. Significantly less autistic adults were « maintaining physical and cognitive functioning » and « actively engaging with life » in comparison to controls. Whilst important differences in health and functioning status were found, the current dominant model of « aging well » is limited for examining autistic individuals. Suggested adjustments include development of a broader, more flexible and strengths -based model.
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6. Ligsay A, El-Deeb M, Salcedo-Arellano MJ, Schloemerkemper N, Grayson JS, Hagerman R. {{General Anesthetic Use in Fragile X Spectrum Disorders}}. {Journal of neurosurgical anesthesiology}. 2018.
The fragile X premutation is characterized by a repeat expansion mutation (between 55 to 200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene, which leads to RNA toxicity at the cellular level. This may cause patients with the premutation to be particularly susceptible to environmental toxins, which could manifest clinically as new or worsening ataxia and memory loss. Multiple published case reports have also suggested general anesthetics as a potential toxin leading to negative side effects when used in patients with fragile X- associated disorders. However, at this time, there have been no formal research studies regarding cellular changes or long-term clinical manifestations after general anesthetic use in this population. This review aims to highlight previous case reports regarding sequelae related to general anesthetic use in fragile X-associated disorders. New case reports related to this phenomenon are also included.
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7. Prigge MBD, Bigler ED, Travers BG, Froehlich A, Abildskov T, Anderson JS, Alexander AL, Lange N, Lainhart JE, Zielinski BA. {{Social Responsiveness Scale (SRS) in Relation to Longitudinal Cortical Thickness Changes in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The relationship between brain development and clinical heterogeneity in autism (ASD) is unknown. This study examines the Social Responsiveness Scale (SRS) in relation to the longitudinal development of cortical thickness. Participants (N = 91 ASD, N = 56 TDC; 3-39 years at first scan) were scanned up to three times over a 7-year period. Mixed-effects models examined cortical thickness in relation to SRS score. ASD participants with higher SRS scores showed regionally increased age-related cortical thinning. Regional thickness differences and reduced age-related cortical thinning were found in predominantly right lateralized regions in ASD with decreasing SRS scores over time. Our findings emphasize the importance of examining clinical phenotypes in brain-based studies of ASD.
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8. Shahidullah JD, Azad G, Mezher KR, McClain MB, McIntyre LL. {{Linking the Medical and Educational Home to Support Children With Autism Spectrum Disorder: Practice Recommendations}}. {Clinical pediatrics}. 2018: 9922818774344.
Children with autism spectrum disorder (ASD) present with complex medical problems that are often exacerbated by a range of other intellectual and psychiatric comorbidities. These children receive care for their physical and mental health from a range of providers within numerous child-serving systems, including their primary care clinic, school, and the home and community. Given the longitudinal nature in which care is provided for this chronic disorder, it is particularly necessary for services and providers to coordinate their care to ensure optimal efficiency and effectiveness. There are 2 primary venues that serve as a « home » for coordination of service provision for children with ASD and their families-the « medical home » and the « educational home. » Unfortunately, these venues often function independently from the other. Furthermore, there are limited guidelines demonstrating methods through which pediatricians and other primary care providers (PCPs) can coordinate care with schools and school-based providers. The purpose of this article is 2-fold: (1) we highlight the provision of evidence-based care within the medical home and educational home and (2) we offer practice recommendations for PCPs in integrating these systems to optimally address the complex medical, intellectual, and psychiatric symptomology affected by autism.
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9. Stevenson JL, Nonack MB. {{Gender differences in mental rotation strategy depend on degree of autistic traits}}. {Autism Res}. 2018.
Participants with low, medium, and high autistic traits completed a mental rotation task while their eye movements were recorded. Men were more accurate than women (F(1, 102) = 4.36, P = 0.04, eta(2)p = 0.04), but there were no group differences in reaction time. In terms of eye movements, all participants tended to rely on top corners of cube figures for most angles of rotation, and bottom corners of cube figures for 0 and 90 degree rotations (duration: F(8, 816) = 21.70, P < 0.001, eta(2)p = 0.18; count: F(8, 816) = 24.42, P < 0.001, eta(2)p = 0.19) suggesting a shift in strategy with rotation angle. Eye movements to corners of cube figures also varied by autistic traits group and gender (duration: F(4, 204) = 2.44, P = 0.05, eta(2)p = 0.05; count: F(4, 204) = 2.47, P = 0.05, eta(2)p = 0.05). Participants with low and medium autistic traits tended to rely more often on the top corners, whereas women with high autistic traits relied on both the top and bottom corners and men with high autistic traits relied on all corners equally. These results suggest mental rotation strategies may vary by both gender and autistic traits. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: The current study looked at eye movements to assess adults' strategies when mentally rotating three-dimensional cube figures. Adults with varying levels of autistic traits differ in their mental rotation strategies. In addition, gender differences in strategies are observed in adults with the highest level of autistic traits. Lien vers le texte intégral (Open Access ou abonnement)
10. Strati F, Calabro A, Donati C, De Felice C, Hayek J, Jousson O, Leoncini S, Renzi D, Rizzetto L, De Filippo C, Cavalieri D. {{Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host}}. {BMC gastroenterology}. 2018; 18(1): 57.
BACKGROUND: Rett syndrome (RTT) is a neurological disorder mainly caused by mutations in MeCP2 gene. It has been shown that MeCP2 impairments can lead to cytokine dysregulation due to MeCP2 regulatory role in T-helper and T-reg mediated responses, thus contributing to the pro-inflammatory status associated with RTT. Furthermore, RTT subjects suffer from an intestinal dysbiosis characterized by an abnormal expansion of the Candida population, a known factor responsible for the hyper-activation of pro-inflammatory immune responses. Therefore, we asked whether the intestinal fungal population of RTT subjects might contribute the sub-inflammatory status triggered by MeCP2 deficiency. METHODS: We evaluated the cultivable gut mycobiota from a cohort of 50 RTT patients and 29 healthy controls characterizing the faecal fungal isolates for their virulence-related traits, antifungal resistance and immune reactivity in order to elucidate the role of fungi in RTT’s intestinal dysbiosis and gastrointestinal physiology. RESULTS: Candida parapsilosis, the most abundant yeast species in RTT subjects, showed distinct genotypic profiles if compared to healthy controls’ isolates as measured by hierarchical clustering analysis from RAPD genotyping. Their phenotypical analysis revealed that RTT’s isolates produced more biofilm and were significantly more resistant to azole antifungals compared to the isolates from the healthy controls. In addition, the high levels of IL-1beta and IL-10 produced by peripheral blood mononuclear cells and the mixed Th1/Th17 cells population induced by RTT C. parapsilosis isolates suggest the capacity of these intestinal fungi to persist within the host, being potentially involved in chronic, pro-inflammatory responses. CONCLUSIONS: Here we demonstrated that intestinal C. parapsilosis isolates from RTT subjects hold phenotypic traits that might favour the previously observed low-grade intestinal inflammatory status associated with RTT. Therefore, the presence of putative virulent, pro-inflammatory C. parapsilosis strains in RTT could represent an additional factor in RTT’s gastrointestinal pathophysiology, whose mechanisms are not yet clearly understood.
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11. Strunecka A, Blaylock RL, Patocka J, Strunecky O. {{Immunoexcitotoxicity as the central mechanism of etiopathology and treatment of autism spectrum disorders: A possible role of fluoride and aluminum}}. {Surgical neurology international}. 2018; 9: 74.
Our review suggests that most autism spectrum disorder (ASD) risk factors are connected, either directly or indirectly, to immunoexcitotoxicity. Chronic brain inflammation is known to enhance the sensitivity of glutamate receptors and interfere with glutamate removal from the extraneuronal space, where it can trigger excitotoxicity over a prolonged period. Neuroscience studies have clearly shown that sequential systemic immune stimulation can activate the brain’s immune system, microglia, and astrocytes, and that with initial immune stimulation, there occurs CNS microglial priming. Children are exposed to such sequential immune stimulation via a growing number of environmental excitotoxins, vaccines, and persistent viral infections. We demonstrate that fluoride and aluminum (Al(3+)) can exacerbate the pathological problems by worsening excitotoxicity and inflammation. While Al(3+) appears among the key suspicious factors of ASD, fluoride is rarely recognized as a causative culprit. A long-term burden of these ubiquitous toxins has several health effects with a striking resemblance to the symptoms of ASD. In addition, their synergistic action in molecules of aluminofluoride complexes can affect cell signaling, neurodevelopment, and CNS functions at several times lower concentrations than either Al(3+) or fluoride acting alone. Our review opens the door to a number of new treatment modes that naturally reduce excitotoxicity and microglial priming.
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12. Van Hees V, Roeyers H, De Mol J. {{Students with Autism Spectrum Disorder and Their Parents in the Transition into Higher Education: Impact on Dynamics in the Parent-Child Relationship}}. {J Autism Dev Disord}. 2018.
This study examined how 34 senior students and first-year college students with autism spectrum disorder, their mothers (n = 34) and fathers (n = 26) navigate the higher education transition, and how this context impacts on dynamics in the parent-child relationships. Semi-structured interviews were analyzed based on grounded theory and dyadic analysis principles. Both parties were confronted with an abundance of challenges and experienced strong feelings of ambivalence, stress and anxiety. Differences in perspectives occurred regarding the construction of adulthood, the acquisition of autonomy, disclosure and subscribing to support services. These differences caused tensions in the parent-child relationship, hindering the transformation of the relationship into an adult-like mutual relationship. Clinical implications are extrapolated on the basis of these findings.
