1. Berto S, Usui N, Konopka G, Fogel BL. {{ELAVL2-regulated transcriptional and splicing networks in human neurons link neurodevelopment and autism}}. {Hum Mol Genet};2016 (Jun 3)
The role of post-transcriptional gene regulation in human brain development and neurodevelopmental disorders remains mostly uncharacterized. ELAV-like RNA-binding proteins are a family of proteins that regulate several aspects of neuronal function including neuronal excitability and synaptic transmission, both critical to the normal function of the brain in cognition and behavior. Here, we identify the downstream neuronal transcriptional and splicing networks of ELAVL2, an RNA-binding protein with previously unknown function in the brain. Expression of ELAVL2 was reduced in human neurons and RNA-sequencing was utilized to identify networks of differentially expressed and alternatively spliced genes resulting from haploinsufficient levels of ELAVL2. These networks contain a number of autism-relevant genes as well as previously identified targets of other important RNA-binding proteins implicated in autism spectrum disorder including RBFOX1 and FMRP. ELAVL2-regulated co-expression networks are also enriched for neurodevelopmental and synaptic genes, and include genes with human-specific patterns of expression in the frontal pole. Together, these data suggest that ELAVL2 regulation of transcript expression is critical for neuronal function and clinically relevant to autism spectrum disorder.
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2. Santocchi E, Guiducci L, Fulceri F, Billeci L, Buzzigoli E, Apicella F, Calderoni S, Grossi E, Morales MA, Muratori F. {{Gut to brain interaction in Autism Spectrum Disorders: a randomized controlled trial on the role of probiotics on clinical, biochemical and neurophysiological parameters}}. {BMC Psychiatry};2016;16:183.
BACKGROUND: A high prevalence of a variety of gastrointestinal (GI) symptoms is frequently reported in patients with Autism Spectrum Disorders (ASD). The GI disturbances in ASD might be linked to gut dysbiosis representing the observable phenotype of a « gut-brain axis » disruption. The exploitation of strategies which can restore normal gut microbiota and reduce the gut production and absorption of toxins, such as probiotics addition/supplementation in a diet, may represent a non-pharmacological option in the treatment of GI disturbances in ASD. The aim of this randomized controlled trial is to determine the effects of supplementation with a probiotic mixture (Vivomixx(R)) in ASD children not only on specific GI symptoms, but also on the core deficits of the disorder, on cognitive and language development, and on brain function and connectivity. An ancillary aim is to evaluate possible effects of probiotic supplementation on urinary concentrations of phthalates (chemical pollutants) which have been previously linked to ASD. METHODS: A group of 100 preschoolers with ASD will be classified as belonging to a GI group or to a Non-GI (NGI) group on the basis of a symptom severity index specific to GI disorders. In order to obtain four arms, subjects belonging to the two groups (GI and NGI) will be blind randomized 1:1 to regular diet with probiotics or with placebo for 6 months. All participants will be assessed at baseline, after three months and after six months from baseline in order to evaluate the possible changes in: (1) GI symptoms; (2) autism symptoms severity; (3) affective and behavioral comorbid symptoms; (4) plasmatic, urinary and fecal biomarkers related to abnormal intestinal function; (5) neurophysiological patterns. DISCUSSION: The effects of treatments with probiotics on children with ASD need to be evaluated through rigorous controlled trials. Examining the impact of probiotics not only on clinical but also on neurophysiological patterns, the current trial sets out to provide new insights into the gut-brain connection in ASD patients. Moreover, results could add information to the relationship between phthalates levels, clinical features and neurophysiological patterns in ASD. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02708901 . Retrospectively registered: March 4, 2016.
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3. White SW, Elias R, Salinas CE, Capriola N, Conner CM, Asselin SB, Miyazaki Y, Mazefsky CA, Howlin P, Getzel EE. {{Students with autism spectrum disorder in college: Results from a preliminary mixed methods needs analysis}}. {Res Dev Disabil};2016 (Jun 1);56:29-40.
BACKGROUND: There is a growing call for empirically based programming to support the success of students with autism spectrum disorder (ASD) as they transition to college. AIMS: The purpose of this study was to identify the needs and challenges faced by adolescents and young adults with ASD in postsecondary education. METHODS: A mixed methods approach was taken to explore the needs of college-bound and college-enrolled students with ASD. Primary stakeholders (i.e., parents, educators/support staff from secondary and postsecondary institutions, and students) participated in an online survey (n=67) and focus groups (n=15). RESULTS: Across the stakeholder groups, commonly identified areas of difficulty included limited interpersonal competence, managing competing demands in postsecondary education, and poor emotional regulation. There was a high degree of agreement across stakeholders in the identified needs and challenges. IMPLICATIONS: Findings from this preliminary needs analysis will inform the development of programming to support students with ASD.
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4. Yochum A. {{Autism Spectrum/Pervasive Developmental Disorder}}. {Prim Care};2016 (Jun);43(2):285-300.
Autism spectrum disorder is a complex disorder that is becoming more prevalent. Because of this increased prevalence, primary care providers must become more knowledgeable about the disorder so they can provide appropriate screening, evaluation, and treatment as part of an interdisciplinary team and to serve patients and families within the medical home.
