1. Chiu YL, Kao S, Tou SW, Lin FG. {{Effects of heterogeneous risk factors on psychological distress in adolescents with autism and victimization experiences in Taiwan}}. {Disabil Rehabil};2016 (Oct 26):1-10.
PURPOSE: To investigate the prevalence of various types of bullying victimization among adolescents with autism spectrum disorder (ASD) and examine the effects of victimization on the mental health of adolescents with ASD. METHODS: The sample was collected from the Special Needs Education Longitudinal Study (SNELS) database released in 2011. Variables comprising seven psychological distress (PD) items and four types of bullying victimization and family-, school-, and peer-related factors were included in a multivariate regression analysis. RESULTS: Exclusion and verbal bullying were most frequently reported, 72.4% of students with ASD experiencing exclusion bullying and 66% of them experiencing verbal bullying. Among the victims, delayed bedtime, use of medication, and conflicts with parents significantly increased PD. By contrast, good relationships with parents and friends and liking school environments relieved PD symptoms. Furthermore, delayed bedtime after 12 a.m. enhanced the effects of exclusion victimization on PD in the participants. CONCLUSIONS: Our results indicated that bullying victimization among adolescents with ASD was a risk factor for their psychological well-being. Nevertheless, good parent-adolescent and interpeer relationships improved their mental health. Our results can serve as a reference in implementing strategies for motivating parents and teachers to pay more attention to the needs of adolescents with ASD. Implications for Rehabilitation More than 80% of adolescents with autism experience at least one type of bullying victimization. Bullying victimization attributes to a major factor influencing mental health of adolescents with autism. Good parent-adolescent and interpeer relationships can play beneficial roles in improving mental health of the adolescents.
10.1080/09638288.2016.1242173Lien vers le texte intégral (Open Access ou abonnement)
2. Iacono T, Dissanayake C, Trembath D, Hudry K, Erickson S, Spong J. {{Family and Practitioner Perspectives on Telehealth for Services to Young Children with Autism}}. {Stud Health Technol Inform};2016;231:63-73.
Telehealth offers the potential to address inequalities in autism service access for young children living in regional and rural areas with limited access to autism specialists. Our aim was to explore parent and practitioner uses of technology, and views about telehealth, including perceived barriers, for autism early intervention service delivery in a regional town in Australia. Fifteen mothers and 19 front-line autism practitioners completed surveys distributed by local autism service and support providers in the regional town; eight front-line practitioners from one service participated in interviews. Mothers and practitioners had access to technology that could be used for video-communication, but had little or no experience with telehealth. Mothers appeared more willing to try telehealth for receiving autism services than practitioners appeared to believe, and practitioners preferred to use it for consulting with other professionals and professional development. Barriers to telehealth included limited experience and practitioners not knowing what a telehealth service would look like, poor access to reliable and high speed internet, lack of skill and technical supports, and practitioners believing families preferred face-to-face services. The success of telehealth in this regional town will rely on better infrastructure, and upskilling practitioners in evidence-based autism interventions so they can provide the required support remotely. Use of telehealth to upskill practitioners in evidence-based practice could provide a first step in ensuring equitable access to expert autism services to regional and rural families.
3. Landini M, Merelli I, Raggi ME, Galluccio N, Ciceri F, Bonfanti A, Camposeo S, Massagli A, Villa L, Salvi E, Cusi D, Molteni M, Milanesi L, Marabotti A, Mezzelani A. {{Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort}}. {Int J Mol Sci};2016 (Oct 22);17(10)
Since involved in synaptic transmission and located on X-chromosome, neuroligins 3 and 4X have been studied as good positional and functional candidate genes for autism spectrum disorder pathogenesis, although contradictory results have been reported. Here, we performed a case-control study to assess the association between noncoding genetic variants in NLGN3 and NLGN4X genes and autism, in an Italian cohort of 202 autistic children analyzed by high-resolution melting. The results were first compared with data from 379 European healthy controls (1000 Genomes Project) and then with those from 1061 Italian controls genotyped by Illumina single nucleotide polymorphism (SNP) array 1M-duo. Statistical evaluations were performed using Plink v1.07, with the Omnibus multiple loci approach. According to both the European and the Italian control groups, a 6-marker haplotype on NLGN4X (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, p-value = 2.58 x 10-6 for the European controls; odds ratio = 2.42, p-value = 6.33 x 10-3 for the Italian controls). Furthermore, several haplotype blocks at 5-, 4-, 3-, and 2-, including the first 5, 4, 3, and 2 SNPs, respectively, showed a similar association with autism. We provide evidence that noncoding polymorphisms on NLGN4X may be associated to autism, suggesting the key role of NLGN4X in autism pathophysiology and in its male prevalence.
10.3390/ijms17101765Lien vers le texte intégral (Open Access ou abonnement)
4. Rangasamy S, Olfers S, Gerald B, Hilbert A, Svejda S, Narayanan V. {{Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model}}. {F1000Res};2016;5:2269.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene, encoding methyl-CpG-binding protein 2. We have created a mouse model ( Mecp2 A140V « knock-in » mutant) expressing the recurrent human MECP2 A140V mutation linked to an X-linked mental retardation/Rett syndrome phenotype. Morphological analyses focused on quantifying soma and nucleus size were performed on primary hippocampus and cerebellum granule neuron (CGN) cultures from mutant ( Mecp2A140V/y) and wild type ( Mecp2+/y) male mice. Cultured hippocampus and cerebellar granule neurons from mutant animals were significantly smaller than neurons from wild type animals. We also examined soma size in hippocampus neurons from individual female transgenic mice that express both a mutant (maternal allele) and a wild type Mecp2 gene linked to an eGFP transgene (paternal allele). In cultures from such doubly heterozygous female mice, the size of neurons expressing the mutant (A140V) allele also showed a significant reduction compared to neurons expressing wild type MeCP2, supporting a cell-autonomous role for MeCP2 in neuronal development. IGF-1 (insulin growth factor-1) treatment of neuronal cells from Mecp2 mutant mice rescued the soma size phenotype. We also found that Mecp2 mutation leads to down-regulation of the mTOR signaling pathway, known to be involved in neuronal size regulation. Our results suggest that i) reduced neuronal size is an important in vitro cellular phenotype of Mecp2 mutation in mice, and ii) MeCP2 might play a critical role in the maintenance of neuronal structure by modulation of the mTOR pathway. The definition of a quantifiable cellular phenotype supports using neuronal size as a biomarker in the development of a high-throughput, in vitro assay to screen for compounds that rescue small neuronal phenotype (« phenotypic assay »).
10.12688/f1000research.8156.1Lien vers le texte intégral (Open Access ou abonnement)
5. Tsai SJ. {{Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome}}. {Med Sci Monit};2016 (Oct 27);22:4026-4029.
Rett syndrome (RTT) is a severe neurodevelopmental disorder occurring almost exclusively in females and is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) in the majority of cases. MeCP2 is essential for the normal function of nerve cells, including neuronal development, maturation, and synaptic activity. RTT is characterized by normal early development followed by autistic-like features, slowed brain and head growth, gait abnormalities, seizures, breathing irregularities, and cognitive disabilities. Medical management in RTT remains supportive and symptomatic. Brain-derived neurotrophic factor (BDNF) has been implicated in the pathophysiology of RTT. Recent studies have shown a phenotypic reversal by increasing BDNF expression in a RTT mouse model. Thus, manipulation of BDNF expression/signaling in the brain could be therapeutic for this disease. Transcranial focused ultrasound for (tFUS) can noninvasively focally modulate human cortical function, stimulate neurogenesis, and increase BDNF in animal studies. Consequently, tFUS may be of therapeutic potential for Rett syndrome. Further evaluation of the therapeutic effects of tFUS in Mecp2 deficient animal models is needed before clinical trials can begin.
6. Wang GX, Smith SJ, Mourrain P. {{Sub-synaptic, multiplexed analysis of proteins reveals Fragile X related protein 2 is mislocalized in Fmr1 KO synapses}}. {Elife};2016 (Oct 22);5
The distribution of proteins within sub-synaptic compartments is an essential aspect of their neurological function. Current methodology such as electron microscopy (EM) and super-resolution imaging techniques can provide precise localization of proteins, but are often limited to a small number of one-time observations with narrow spatial and molecular coverage. The diversity of synaptic proteins and synapse types demands synapse analysis on a scale that is prohibitive with current methods. Here, we demonstrate SubSynMAP, a fast, multiplexed sub-synaptic protein analysis method using wide-field data from deconvolution array tomography (ATD). SubSynMAP generates probability distributions of proteins that reveal their functional range within the averaged synapse of a particular class. This enables the differentiation of closely juxtaposed proteins. Using this method, we analyzed 15 synaptic proteins in normal and Fragile X mental retardation syndrome (FXS) model mouse cortex, and revealed disease specific modifications of sub-synaptic protein distributions across synapse classes and cortical layers.
10.7554/eLife.20560Lien vers le texte intégral (Open Access ou abonnement)
