1. Cipriani C, Ricceri L, Matteucci C, De Felice A, Tartaglione AM, Argaw-Denboba A, Pica F, Grelli S, Calamandrei G, Sinibaldi Vallebona P, Balestrieri E. {{High expression of Endogenous Retroviruses from intrauterine life to adulthood in two mouse models of Autism Spectrum Disorders}}. {Sci Rep}. 2018; 8(1): 629.
Retroelements, such as Human Endogenous Retroviruses (HERVs), have been implicated in many complex diseases, including neurological and neuropsychiatric disorders. Previously, we demonstrated a distinctive expression profile of specific HERV families in peripheral blood mononuclear cells from Autistic Spectrum Disorders (ASD) patients, suggesting their involvement in ASD. Here we used two distinct ASD mouse models: inbred BTBR T+tf/J mice and CD-1 outbred mice prenatally exposed to valproic acid. Whole embryos, blood and brain samples from the offspring were collected at different ages and the expression of several ERV families (ETnI, ETnII-alpha, ETnII-beta, ETnII-gamma, MusD and IAP), proinflammatory cytokines (IL-1beta, IL-6 and TNF-alpha) and Toll-like receptors (TLR3 and TLR4) was assessed. In the two distinct mouse models analysed, the transcriptional activity of the ERV families was significant higher in comparison with corresponding controls, in whole embryos, blood and brain samples. Also the expression levels of the proinflammatory cytokines and TLRs were significantly higher than controls. Current results are in agreement with our previous findings in ASD children, supporting the hypothesis that ERVs may serve as biomarkers of atypical brain development. Moreover, the changes in ERVs and proinflammatory cytokines expression could be related with the autistic-like traits acquisition in the two mouse models.
Lien vers le texte intégral (Open Access ou abonnement)
2. Doyle LW, Anderson PJ, Burnett A, Callanan C, McDonald M, Hayes M, Opie G, Carse E, Cheong JLY. {{Developmental Disability at School Age and Difficulty Obtaining Follow-up Data}}. {Pediatrics}. 2018.
BACKGROUND: The relationship of developmental disability rates with difficulty obtaining follow-up data is unclear. With this study, we aimed to determine if children who attended research follow-up assessments with more difficulty had more disability at school age, compared with those who attended with less difficulty, and to establish the relationship between follow-up and disability rates. METHODS: Two groups, comprising 219 consecutive survivors born at <28 weeks' gestation or at <1000 g birth weight in the state of Victoria, Australia, in 2005, and 218 term-born, normal birth weight controls were assessed at 8 years of age for neurodevelopmental disability (any of IQ <-1 SD, cerebral palsy, blindness, or deafness). Children were classified as either more or less difficult to get to attend by research nurses involved in the study. RESULTS: The follow-up rate was 87% for both groups. Overall, children who attended with more difficulty had higher rates of neurodevelopmental disability (42%; 19 of 45) than those who attended with less difficulty (20%; 66 of 328) (odds ratio: 3.09, 95% confidence interval: 1.58 to 6.01; P = .001). As the follow-up rate rose among the 3 individual hospitals involved in the assessments, so did the rate of neurodevelopmental disability (P = .025). CONCLUSIONS: Children who attend with more difficulty have higher rates of neurodevelopmental disability at school age than those who attend with less difficulty, and disability rates rise with higher follow-up rates. Rates of neurodevelopmental disability will be underestimated if researchers are not persistent enough to obtain high follow-up rates. Lien vers le texte intégral (Open Access ou abonnement)
3. Gerdts J, Mancini J, Fox E, Rhoads C, Ward T, Easley E, Bernier RA. {{Interdisciplinary Team Evaluation: An Effective Method for the Diagnostic Assessment of Autism Spectrum Disorder}}. {J Dev Behav Pediatr}. 2018.
OBJECTIVE: The objective of this research is to assess the feasibility of an interdisciplinary team diagnostic assessment model for autism spectrum disorder (ASD). METHOD: Medical records from 366 patients evaluated for ASD at the Seattle Children’s Autism Center (SCAC) were reviewed. ASD diagnostic outcomes, provider satisfaction, engagement in follow-up care, billed time, and reimbursement amounts were compared in patients evaluated through an interdisciplinary team approach (n = 91) with those seen in multidisciplinary evaluations led by either a psychologist (n = 165) or a physician (n = 110). RESULTS: Diagnostic determination was made in 90% of patients evaluated through the interdisciplinary team model in a single day. Rates of ASD diagnosis were similar across the 3 tracks, ranging from 61% to 72%. Demographic characteristics did not impact the likelihood of ASD diagnosis. Rates of patient follow-up care and provider satisfaction were significantly higher in interdisciplinary versus multidisciplinary teams. Interdisciplinary team evaluations billed 1.8 fewer hours yet generated more net hourly clinic income compared with psychology-led multidisciplinary evaluations. CONCLUSION: An interdisciplinary team approach, focusing on ruling-in or ruling-out ASD, was sufficient to determine ASD diagnosis in most patients seen at the SCAC Interdisciplinary teams generated more clinic income and decreased the time spent in evaluation compared with a psychology-led approach. They did so while maintaining consistency in diagnostic rates, demonstrating increased provider satisfaction and an increased likelihood of engagement in follow-up care.
Lien vers le texte intégral (Open Access ou abonnement)
4. Riquelme I, Hatem SM, Montoya P. {{Reduction of Pain Sensitivity after Somatosensory Therapy in Children with Autism Spectrum Disorders}}. {Journal of abnormal child psychology}. 2018.
Children with autism spectrum disorders (ASD) often present with somatosensory dysfunction including an abnormal reactivity to tactile stimuli and altered pain perception. A therapy based on somatosensory stimuli has shown effectiveness in reducing pain sensitivity among adults with cerebral palsy. The present study aims at exploring the influence of somatosensory therapy on somatosensory parameters in children with ASD. Children with high-functioning ASD were randomly assigned to either the intervention (n = 29) or the control group (n = 30). The intervention group received a somatosensory therapy consisting of four types of exercises (touch, proprioception, vibration, stereognosis). Somatosensory function (pressure pain thresholds, tactile thresholds, stereognosis, proprioception) was assessed before and immediately after the therapy. Children in the intervention group showed a significant reduction of pain sensitivity and increase of tactile sensitivity after treatment, whereas children in the control group displayed increased pain sensitivity in the absence of changes of tactile sensitivity. No changes were observed for proprioception or stereognosis. The repetitive somatosensory stimulation therapy led to a decrease of pain sensitivity and an increase of tactile sensitivity. These findings may have important research and clinical implications, as promoting early tactile interventions in children with ASD may lead to a more adequate development of somatosensory processing and less somatosensory abnormalities upon adult life.
Lien vers le texte intégral (Open Access ou abonnement)
5. Wu D, Jose JV, Nurnberger JI, Torres EB. {{A Biomarker Characterizing Neurodevelopment with applications in Autism}}. {Sci Rep}. 2018; 8(1): 614.
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales. We unraveled new metrics containing striking physiological information that was unseen neither by using traditional motion assessments nor by naked eye observations. Our putative biomarker leads to precise individualized classifications. It illustrates clear differences between Autism Spectrum Disorder (ASD) subjects from mature typical developing (TD) individuals. It provides an ASD complementary quantitative classification, which closely agrees with the clinicaly assessed functioning levels in the spectrum. It also illustrates TD potential age-related neurodevelopmental trajectories. Applying our movement biomarker to the parents of the ASD individuals studied in the cohort also shows a novel potential familial signature ASD tie. This paper proposes a putative behavioral biomarker to characterize the level of neurodevelopment with high predicting power, as illustrated in ASD subjects as an example.
