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.
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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. Farmer C, Swineford L, Swedo SE, Thurm A. {{Classifying and characterizing the development of adaptive behavior in a naturalistic longitudinal study of young children with autism}}. {J Neurodev Disord}. 2018; 10(1): 1.
BACKGROUND: Adaptive behavior, or the ability to function independently in ones’ environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories. METHODS: Data from an accelerated longitudinal natural history study (n = 105 children with ASD) were subjected to growth mixture model analysis. Children were assessed up to four times between the ages of 3 to 7.99 years. RESULTS: The best fitting model comprised two classes of trajectory on the Adaptive Behavior Composite score of the Vineland Adaptive Behavior Scale, Second Edition-a low and decreasing trajectory (73% of the sample) and a moderate and stable class (27%). CONCLUSIONS: These results partially replicate the classes observed in a previous study of a similarly characterized sample, suggesting that developmental trajectory may indeed serve as a phenotype. Further, the ability to predict which trajectory a child is likely to follow will be useful in planning for clinical trials.
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4. Nazar BP, Peynenburg V, Rhind C, Hibbs R, Schmidt U, Gowers S, Macdonald P, Goddard E, Todd G, Micali N, Treasure J. {{An examination of the clinical outcomes of adolescents and young adults with broad autism spectrum traits and autism spectrum disorder and anorexia nervosa: A multi centre study}}. {The International journal of eating disorders}. 2018.
OBJECTIVES: To compare the clinical outcomes of adolescents and young adults with anorexia nervosa (AN) comorbid with broad autism spectrum disorder (ASD) or ASD traits. METHOD: The developmental and well-being assessment and social aptitude scale were used to categorize adolescents and young adults with AN (N = 149) into those with ASD traits (N = 23), and those who also fulfilled diagnostic criteria for a possible/probable ASD (N = 6). We compared both eating disorders specific measures and broader outcome measures at intake and 12 months follow-up. RESULTS: Those with ASD traits had significantly more inpatient/day-patient service use (p = .015), as well as medication use (p < .001) at baseline. Both groups had high social difficulties and poorer global functioning (strengths and difficulties questionnaire) at baseline, which improved over time but remained higher at 12 months in the ASD traits group (p = .002). However, the improvement in eating disorder symptoms at 12 months was similar between groups with or without ASD traits. Treatment completion rates between AN only and ASD traits were similar (80.1 vs. 86.5%). DISCUSSION: Adolescents with AN and ASD traits show similar reductions in their eating disorder symptoms. Nevertheless, their social difficulties remain high suggesting that these are life-long difficulties rather than starvation effects. Lien vers le texte intégral (Open Access ou abonnement)
5. Polfuss M, Sawin KJ, Papanek PE, Bandini L, Forseth B, Moosreiner A, Zvara K, Schoeller DA. {{Total energy expenditure and body composition of children with developmental disabilities}}. {Disability and health journal}. 2017.
BACKGROUND: Obesity prevalence is increased in children with developmental disabilities, specifically in children with spina bifida and Down syndrome. Energy expenditure, a critical aspect of weight management, has been extensively studied in the typically developing population, but not adequately studied in children with developmental disabilities. OBJECTIVE: Determine energy expenditure, fat-free mass and body fat percentile and the impact of these findings on recommended caloric intake in children with spina bifida and Down syndrome. Methods/Measures: This pilot study included 36 children, 18 with spina bifida, 9 with Down syndrome and 9 typically developing children. Half of the children with spina bifida were non-ambulatory. Doubly labeled water was used to measure energy expenditure and body composition. Descriptive statistics described the sample and MANOVA and ANOVA methods were used to evaluate differences between groups. RESULTS: Energy expenditure was significantly less for children with spina bifida who primarily used a wheelchair (p=.001) and children with Down syndrome (p=.041) when compared to children without a disability when adjusted for fat-free mass. However, no significant difference was detected in children with spina bifida who ambulated without assistance (p=.072). CONCLUSIONS: Children with spina bifida and Down syndrome have a significantly decreased energy expenditure which directly impacts recommended caloric intake. No significant difference was detected for children with spina bifida who ambulated, although the small sample size of this pilot study may have limited these findings. Validating these results in a larger study is integral to supporting successful weight management of these children.
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6. 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.
