Pubmed du 13/05/19

lundi 13 mai 2019

1. Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A. Intellectual disability and autism spectrum disorders ’on the fly’ : insights from Drosophila. Disease models & mechanisms. 2019 ; 12(5).

Intellectual disability (ID) and autism spectrum disorders (ASD) are frequently co-occurring neurodevelopmental disorders and affect 2-3% of the population. Rapid advances in exome and genome sequencing have increased the number of known implicated genes by threefold, to more than a thousand. The main challenges in the field are now to understand the various pathomechanisms associated with this bewildering number of genetic disorders, to identify new genes and to establish causality of variants in still-undiagnosed cases, and to work towards causal treatment options that so far are available only for a few metabolic conditions. To meet these challenges, the research community needs highly efficient model systems. With an increasing number of relevant assays and rapidly developing novel methodologies, the fruit fly Drosophila melanogaster is ideally positioned to change gear in ID and ASD research. The aim of this Review is to summarize some of the exciting work that already has drawn attention to Drosophila as a model for these disorders. We highlight well-established ID- and ASD-relevant fly phenotypes at the (sub)cellular, brain and behavioral levels, and discuss strategies of how this extraordinarily efficient and versatile model can contribute to ’next generation’ medical genomics and to a better understanding of these disorders.

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2. Geng R, Fang S, Li G. The association between particulate matter 2.5 exposure and children with autism spectrum disorder. Int J Dev Neurosci. 2019.

OBJECTIVE : Particulate matter (PM) as an environmental pollutant is suspected to be associated with autism spectrum disorder (ASD). The aim of this study was to assess whether exposures to PM2.5 during the first three years of life in relation to the risk and degree of the severity of ASD. METHODS : A total of two hundred and ninety-seven 3-6 years old Chinese children (99 confirmed autism cases and 198 their age-gender matched control subjects) were included. Children’s exposures to PM2.5 (particulate matter with aerodynamic diameter <2.5 mum) during the first three years after birth were estimated. Logistic regression analysis was used to examine the PM2.5-ASD association. RESULTS : The mean levels of PM2.5 exposures in ASD and typical developmental children during the first three years of life were 89.8[standard deviations (SD) : 6.1] mug/m(3) and 87.3(6.6) mug/m3, respectively (p = 0.002). A statistically significant positive correlation was found between the serum levels of PM2.5 and the Childhood Autism Rating Scale (CARS) score indicating severity of autism (r = 0.259 ; p = 0.010). Based on the receiver operating characteristic (ROC) curve, the optimal cutoff value of PM2.5 levels as an indicator for auxiliary diagnosis of ASD was projected to be 89.5ug/m(3), which yielded a sensitivity of 65.4% and a specificity of 63.2%, with the area under the curve at 0.61 (95% confidence intervals [CIs], 0.54-0.68 ; P < 0.001). Multivariate analysis models were used to assess ASD risk according to PM2.5 quartiles (the lowest quartile [Q1] as the reference), with the adjusted odds ratios (ORs) (95% CIs) were recorded. As shown in the Table 2, the 3rd and 4th quartile of PM2.5 were compared against the Q1, and the risks were increased by 103% (OR = 2.03 ; 95%CI : 1.13-5.54 ; p = 0.015) and 311% (4.15 ; 2.04-9.45 ; p = 0.002), respectively. CONCLUSIONS : To conclude, the evidence from this study allowed us to conclude that there was an association between PM2.5 exposure and ASD risk and severity.

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3. Kirsten TB, Casarin RC, Bernardi MM, Felicio LF. Pioglitazone abolishes cognition impairments as well as BDNF and neurotensin disturbances in a rat model of autism. Biology open. 2019 ; 8(5).

We have shown that exposure of rats to lipopolysaccharide (LPS) during gestation induces autistic-like behaviors in juvenile offspring and pioglitazone post treatment corrects social and communication deficits. The first objective of the present study was to evaluate the cognition of the rats, because this is also a behavioral sphere committed in autism. Second, biomarkers related to pioglitazone pathways and autism were studied to try to understand their mechanisms. We used our rat model of autism and pioglitazone was administered daily to these young offspring. T-maze spontaneous alternations tests, plasma levels of brain-derived neurotrophic factor (BDNF), beta-endorphin, neurotensin, oxytocin, and substance P were all studied. Exposure of rats to LPS during gestation induced cognitive deficits in the young offspring, elevated BDNF levels and decreased neurotensin levels. Daily postnatal pioglitazone treatment abolished cognition impairments as well as BDNF and neurotensin disturbances. Together with our previous studies, we suggest pioglitazone as a candidate for the treatment of autism, because it improved the responses of the three most typical autistic-like behaviors. BDNF and neurotensin also appeared to be related to the autistic-like behaviors and should be considered for therapeutic purposes.

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4. Kumazaki H, Muramatsu T, Miyao M, Okada KI, Mimura M, Kikuchi M. Brief Report : Olfactory Adaptation in Children with Autism Spectrum Disorders. J Autism Dev Disord. 2019.

Olfactory adaptation is an important process that allows the individual to adjust to changes in the environment. This process has been proposed to be aberrant in individuals with autism spectrum disorders (ASD). However, few studies have examined olfactory adaptation in children with ASD. We examined olfactory adaptation in children with ASD and typically developing (TD) children using a pulse ejection system, which resolved problems associated with previous laboratory-based olfactory psychophysical studies. Nine children with ASD and nine TD children participated in this study and all participants completed the entire experiment. Using this system, we found that the TD group showed greater adaptation than the ASD group. Our results provide a better understanding of olfactory adaptation in children with ASD.

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5. Leezenbaum NB, Iverson JM. Trajectories of Posture Development in Infants With and Without Familial Risk for Autism Spectrum Disorder. J Autism Dev Disord. 2019.

This study investigated early posture development prospectively in infants at heightened (HR) vs. low risk (Low Risk ; LR) for ASD. Fourteen HR infants diagnosed with ASD (HR-ASD), 17 HR infants with language delay (HR-LD), 29 HR infants with no diagnosis (HR-ND), and 25 LR infants were videotaped at home for 25 min during everyday activities and play at 6, 8, 10, 12, and 14 months. All postures were coded and the sustainment source was identified for supported postures. Relative to LR infants, HR-ASD infants and to a lesser extent HR-LD infants exhibited distinct postural trajectories that revealed slower development of more advanced postures. In addition, subtle differences in posture sustainment differentiated HR-ASD from HR-LD infants.

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6. Loussouarn A, Dozieres-Puyravel B, Auvin S. Autistic spectrum disorder and epilepsy : diagnostic challenges. Expert review of neurotherapeutics. 2019 : 1-7.

INTRODUCTION : Epilepsy is more frequent in individuals with Autism Spectrum Disorder (ASD) than in the general population ; however, its diagnosis is frequently challenging. Areas Covered : We report the current diagnostic criteria for both ASD and epilepsy. We describe the incidence, prevalence, and risk factors for epilepsy in patients with ASD. We then focus on the electro-clinical approach, including the clinical evaluation of cognitive regression. Expert Opinion : A diagnosis of epilepsy should be made based on the International League Against Epilepsy (ILAE) definition. A diagnosis of epilepsy should be established based on a single seizure with electroencephalography (EEG) abnormalities. Considering the high prevalence of EEG abnormalities in children with ASD without epilepsy, EEG should only be performed at epilepsy onset, and more precisely when a clinical interview has confirmed that repetitive paroxysmal events could be seizures. There are still many gaps in our understanding of epilepsy in patients with ASD. It would be of interest to further understand the links, if any, between EEG abnormalities and ASD phenotype. The identification of epilepsy syndromes in ASD would help analyze the possible underlying etiologies, for the administration of more appropriate antiepileptic drugs (AED), and to explain the prognosis to caregivers.

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7. Patriquin MA, Hartwig EM, Friedman BH, Porges SW, Scarpa A. Autonomic response in autism spectrum disorder : Relationship to social and cognitive functioning. Biological psychology. 2019.

Individuals with autism spectrum disorder (ASD) may exhibit chronic autonomic nervous system (ANS) hyperarousal (e.g., lower respiratory sinus arrhythmia and higher heart rate) compared to their typically developing peers, reflecting a chronic biological threat response. The sustained nature of this cardiac threat suggests tonic nervous system perception of threat in safe contexts. Herein, the cardiac literature in adult and child populations with ASD is reviewed and placed within a continuum of functioning in order to inform the relationship between cardiac response and functioning in ASD. Findings from this review support the relationship between chronic autonomic hyperarousal and emotional and behavioral difficulties observed in individuals with ASD.

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8. Ruble L, McGrew JH, Wong V, Adams M, Yu Y. A Preliminary Study of Parent Activation, Parent-Teacher Alliance, Transition Planning Quality, and IEP and Postsecondary Goal Attainment of Students with ASD. J Autism Dev Disord. 2019.

The school, student and family factors underlying poor postsecondary outcomes of students with autism spectrum disorder (ASD) are not well understood. The potential impact of school [e.g., transition planning quality (TPQ)], family (e.g., parent activation), and student factors (e.g., adaptive functioning) and their interaction (e.g., parent-teacher alliance) on student outcomes were examined. Student IQ and adaptive behavior, TPQ, and alliance correlated with IEP progress, with postsecondary goal attainment generally and with student participation in training/education, specifically. However, only parent activation and student externalizing behavior correlated with employment. Families and students, rather than school personnel, were the primary persons in charge and in control of the implementation of postsecondary plans and required help across multiple coaching sessions to implement plans fully.

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9. Schroder CM, Malow BA, Maras A, Melmed RD, Findling RL, Breddy J, Nir T, Shahmoon S, Zisapel N, Gringras P. Pediatric Prolonged-Release Melatonin for Sleep in Children with Autism Spectrum Disorder : Impact on Child Behavior and Caregiver’s Quality of Life. J Autism Dev Disord. 2019.

A randomized, 13-weeks, placebo-controlled double-blind study in 125 subjects aged 2-17.5 years with Autism Spectrum Disorder or Smith-Magenis syndrome and insomnia demonstrated efficacy and safety of easily-swallowed prolonged-release melatonin mini-tablets (PedPRM ; 2-5 mg) in improving sleep duration and onset. Treatment effects on child behavior and caregiver’s quality of life were evaluated. PedPRM treatment resulted in significant improvement in externalizing but not internalizing behavior (Strengths and Difficulties questionnaire ; SDQ) compared to placebo (p = 0.021) with clinically-relevant improvements in 53.7% of PedPRM-treated versus 27.6% of placebo-treated subjects (p = 0.008). Caregivers’ quality of life also improved with PedPRM versus placebo (p = 0.010) and correlated with the change in total SDQ (p = 0.0005). PedPRM alleviates insomnia-related difficulties, particularly externalizing behavior in the children, subsequently improving caregivers’ quality of life.

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10. Thomas S, Hinkley T, Barnett LM, May T, Rinehart N. Young Children with ASD Participate in the Same Level of Physical Activity as Children Without ASD : Implications for Early Intervention to Maintain Good Health. J Autism Dev Disord. 2019.

Primary-school-aged children and adolescents with autism spectrum disorder (ASD) are reported to engage in lower levels of moderate-to-vigorous physical activity (MVPA) compared to typically developing (TD) children (Jones et al. in PLoS ONE, 12(2):1-23, 2017). Levels of MVPA in young children with ASD remain unclear. This study aimed to investigate MVPA in 4-to-7-year-old children with (n = 37) and without (n = 40) ASD, to determine if MVPA is related to ASD diagnosis ; and examine correlates to better inform interventions. Results indicated children with ASD engage in the same levels of MVPA as TD children. Future studies need to further explore MVPA in children with ASD over time to uncover when the divergence in MVPA levels occur and what factors may be associated.

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11. Wang Q, Hoi SP, Wang Y, Song C, Li T, Lam CM, Fang F, Yi L. Out of Mind, Out of Sight ? Investigating Abnormal Face Scanning in Autism Spectrum Disorder Using Gaze-Contingent Paradigm. Dev Sci. 2019 : e12856.

Diminished social motivation is hypothesized to explain abnormal face scanning pattern in individuals with Autism Spectrum Disorder (ASD), especially reduced eye-looking time in ASDs than typically developing (TD) people. Here, we tested an alternative explanation that children with ASD may use a compensatory strategy to avoid direct eye contact by processing the eyes through peripheral vision. We compared the face scanning patterns of children with and without ASD in two conditions : in the clear condition, the face was completely visible ; in the blur condition, by using the gaze-contingent paradigm, the whole face was blurred except for a small region being fixated at, thus children could not rely on the peripheral information to process the eyes. We found that children with ASD fixated less on the eyes than TD children in both conditions. Temporal-course analyses further revealed the possible motivation-based guidance of attention to process the eyes in the TD group but not in the ASD group. Additionally, we found that children with ASD scanned faces more randomly and less strategically than TD children. These results have ruled out the alternative hypothesis that the abnormal face scanning pattern in ASDs was due to their compensatory strategy to process eyes through peripheral vision, furthering our understanding of the mechanisms underlying their abnormal face scanning. This article is protected by copyright. All rights reserved.

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