Pubmed du 03/09/19

mardi 3 septembre 2019

1. Amatya DN, Linker SB, Mendes APD, Santos R, Erikson G, Shokhirev MN, Zhou Y, Sharpee T, Gage FH, Marchetto MC, Kim Y. Dynamical Electrical Complexity Is Reduced during Neuronal Differentiation in Autism Spectrum Disorder. Stem Cell Reports ;2019 (Aug 20)

Neuronal activity can be modeled as a nonlinear dynamical system to yield measures of neuronal state and dysfunction. The electrical recordings of stem cell-derived neurons from individuals with autism spectrum disorder (ASD) and controls were analyzed using minimum embedding dimension (MED) analysis to characterize their dynamical complexity. MED analysis revealed a significant reduction in dynamical complexity in ASD neurons during differentiation, which was correlated to bursting and spike interval measures. MED was associated with clinical endpoints, such as nonverbal intelligence, and was correlated with 53 differentially expressed genes, which were overrepresented with ASD risk genes related to neurodevelopment, cell morphology, and cell migration. Spatiotemporal analysis also showed a prenatal temporal enrichment in cortical and deep brain structures. Together, we present dynamical analysis as a paradigm that can be used to distinguish disease-associated cellular electrophysiological and transcriptional signatures, while taking into account patient variability in neuropsychiatric disorders.

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2. Crosby J. Measles, Mumps, Rubella Vaccination and Autism. Ann Intern Med ;2019 (Sep 3) ;171(5):387-388.

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3. Damiano DL, Forssberg H. International initiatives to improve the lives of children with developmental disabilities. Dev Med Child Neurol ;2019 (Oct) ;61(10):1121.

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4. Griego AW, Datzman JN, Estrada SM, Middlebrook SS. Suggestibility and false memories in relation to intellectual disability and autism spectrum disorder : a meta-analytic review. J Intellect Disabil Res ;2019 (Sep 3)

BACKGROUND : A systematic literature review was conducted to evaluate previous research that examined intellectual disability (ID) or autism spectrum disorder (ASD) in relation to memory distortions (i.e. suggestibility and false memories). There were two goals for the current study ; the first goal was to identify significant trends in past literature that fulfilled previously established selection criteria. The second goal was to establish reliability and effect sizes for suggestibility and false memory for samples with diagnoses of ID or ASD. METHODS AND PROCEDURES : Articles that were selected for inclusion in the current study were required to have a clinically diagnosed sample, as well as a non-clinical control group. Studies were also required to have a post-hoc power score higher than .30 to prevent the effects of underpowered studies and limit the potential for publication bias. Selected studies were also required to have provided pertinent information required to complete the analyses (e.g. means, standard deviations, p-values, or correlation coefficients). Any study that did not provide the required information was excluded. RESULTS AND CONCLUSIONS : Two empirical Bayes omnibus analyses revealed a significant effect for participants diagnosed with ID (z = 6.10, p < .001), which supported the researchers’ hypothesis. The results indicated increased susceptibility toward memory suggestibility and false memories when compared with the general population. However, the results of the analyses did not support the researchers’ hypothesis regarding participants diagnosed with ASD. The analyses indicated that participants diagnosed with ASD displayed decreased suggestibility and were less likely to develop false memories (z = -2.37, p = 0.018).

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5. Hviid A, Hansen JV, Frisch M, Melbye M. Measles, Mumps, Rubella Vaccination and Autism. Ann Intern Med ;2019 (Sep 3) ;171(5):388.

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6. Johnsson G, Kerslake R, Crook S. Delivering allied health services to regional and remote participants on the autism spectrum via video-conferencing technology : lessons learned. Rural Remote Health ;2019 (Sep) ;19(3):5358.

Context and issues : The introduction of individualised funding under the National Disability Insurance Scheme in Australia aimed to increase individual choice and control over how people received disability supports. An increase in the allied health disability workforce was anticipated ; however, disability workforce sector reports have consistently indicated difficulties in attracting and retaining sufficient allied health staff to satisfy current and future demand. Autism spectrum disorder is the most prevalent primary diagnosis of participants receiving individualised funding to date and requires support staff to have specialised skills and experience. Given that overall staff attraction and retention issues are reported to be exacerbated in regional and remote areas of Australia, it is important to seek innovative ways of supporting individuals on the autism spectrum in their local communities. Technology has the potential to provide a timely and low-cost alternative that extends access to specialist services for people in remote locations. The current project aimed to identify the feasibility, essential requirements and potential barriers in delivering therapy support to regional and remote participants on the autism spectrum via video-conferencing technology. Lessons learned : A multidisciplinary team (speech pathologist, occupational therapist, psychologist and a special educator) were recruited and trained to deliver tele-therapy services to 16 participants on the autism spectrum, in collaboration with their families and local support teams. Participants resided in two northern, nine western and one southern regional area in New South Wales (NSW), Australia. There were three sets of siblings. One participant resided on remote Lord Howe Island off the coast of northern NSW. Researchers used semi-structured telephone interviews to gain insight into the program from key stakeholder groups including parents, education staff, allied health professionals and tele-therapists. A general inductive approach to data analysis was used under five project evaluation areas. The evaluation focused on five areas including : development of the tele-health delivery team, understanding the role of collaboration, examining the need for autism-specific support, establishing the need for in-person contact and identifying barriers to success. The project evaluation found that investment in staff training and support was key to building a competent tele-therapy team and delivering successful tele-therapy services under a sustainable model. For many families and support team members, collaboration was reported as an important part of the tele-therapy program, with families and teachers finding it helpful to work together with the same information. The evaluation confirmed that access to autism-specific knowledge and support was novel and regarded as beneficial for families and support teams living in regional and remote areas. There were mixed responses to the inclusion of in-person support as part of a tele-therapy service. While some families felt a tele-therapy service was no different to in-person services, other families and tele-therapists indicated that the addition of at least one in-person session would help to increase rapport. Barriers within the tele-therapy model included scheduling and local staff changes, as well as the delivery of intervention requiring physical support. Technology was not seen as a barrier in the current study. This research adds to the growing body of information supporting the use of tele-practice for geographically isolated regions. Ideally, tele-therapy should not replace in-person services ; however, it is necessary when no other comparable service option is available locally. Larger scale research is needed to compare blended, online and in-person models so that an optimal ratio can be established.

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7. Keidar L, Gerlitz G, Kshirsagar A, Tsoory M, Olender T, Wang X, Yang Y, Chen YS, Yang YG, Voineagu I, Reiner O. Interplay of LIS1 and MeCP2 : Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome. Front Cell Neurosci ;2019 ;13:370.

LIS1 is the main causative gene for lissencephaly, while MeCP2 is the main causative gene for Rett syndrome, both of which are neurodevelopmental diseases. Here we report nuclear functions for LIS1 and identify previously unrecognized physical and genetic interactions between the products of these two genes in the cell nucleus, that has implications on MeCP2 organization, neuronal gene expression and mouse behavior. Reduced LIS1 levels affect the association of MeCP2 with chromatin. Transcriptome analysis of primary cortical neurons derived from wild type, Lis1+/-, MeCP2-/y, or double mutants mice revealed a large overlap in the differentially expressed (DE) genes between the various mutants. Overall, our findings provide insights on molecular mechanisms involved in the neurodevelopmental disorders lissencephaly and Rett syndrome caused by dysfunction of LIS1 and MeCP2, respectively.

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8. Mawson AR. Measles, Mumps, Rubella Vaccination and Autism. Ann Intern Med ;2019 (Sep 3) ;171(5):386-387.

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9. Nicole W. Getting the Lay of the Land : Human and Animal Evidence on Environmental Chemicals and Autism. Environ Health Perspect ;2019 (Sep) ;127(9):94002.

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10. Tomiyasu K, Oshima T, Yoshii M, Suzuki H, Inamasu J, Izumi M. [Wilson’s disease presenting as Asperger syndrome]. Rinsho Shinkeigaku ;2019 (Aug 30)

A 24-year-old man, who had been treated for 3 years as Asperger syndrome in adolescence due to behavioral disturbances, lack of social awareness and inability to socialize, was referred to our hospital shortly after tremors developed. On the basis of clinical features, laboratory findings and the brain MRI, a diagnosis of Wilson’s disease (WD) was made. WD was further confirmed by genetic testing (the mutation of ATP7B gene). He was started with trientine hydrochloride 500 mg/day, and after 1 year of follow-up, his psychiatric symptoms have improved. Since psychiatric symptoms may precede the neurological symptoms, the possibility of WD should be always considered in the differential diagnosis of psychiatric disorders in young adults.

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