Pubmed du 08/11/19

vendredi 8 novembre 2019

1. Armitano CN, Bennett HJ, Haegele JA, Morrison S. Assessment of the gait-related acceleration patterns in adults with autism spectrum disorder. Gait Posture ;2019 (Sep 4) ;75:155-162.

Individuals with autism spectrum disorder (ASD) can exhibit a range of movement issues, which are often characterized by a general slowing of movement responses that can extend to walking speed. The current study was designed to examine the spatio-temporal features and pattern of acceleration for the trunk, neck and head during walking for a cohort of adults with ASD compared to neurotypical individuals. Twenty young adults with ASD and 20 age-matched neurotypical adults participated in this study. Participants performed five walking trials across a 20ft Protokinetics pressure sensitive surface at their preferred walking speed. Accelerations were collected using three triaxial accelerometers affixed to the head, neck, and lower trunk. Comparisons of acceleration amplitude (i.e., RMS), frequency, segmental gain and regularity (i.e., SampEn) during the walking tasks were performed. Results revealed that the adults with ASD walked slower than the neurotypical persons with a greater proportion of time spent in double stance. Despite walking at a slower pace overall, the adults with ASD exhibited a decreased ability to attenuate gait-related oscillations from the trunk to the head. Overall, these findings suggest that adults with ASD exhibited a decreased ability to accommodate and dampen those accelerations related to walking. As declines in gait speed are often linked with loss of head control, one suggestion is that the inability to appropriately compensate for gait-related oscillations may, in part, explain why persons with ASD walk slower.

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2. Chandrasekhar T. Supporting the needs of college students with autism spectrum disorder. J Am Coll Health ;2019 (Nov 8):1-4.

Objective : Young adults with autism spectrum disorder (ASD) are enrolling in colleges at increasing rates. This case highlights the need for college mental health clinicians to be aware of features of ASD in emerging adults. Participants : A case of a young woman with dysphoria and anxiety who also met ASD criteria during a diagnostic evaluation. Methods : The author describes diagnostic criteria for ASD, common psychiatric co-morbidities, and commonly used campus services. Results : The student in this case was diagnosed with ASD during the course of treatment for dysphoria and anxiety. Knowledge of this diagnosis led to better self-understanding and discovery of new supports. Conclusions : College mental health clinicians will increasingly encounter students with ASD whose social and communication challenges impact their success in post-secondary educational environments. Clinicians should be knowledgeable of ASD features, common mental health challenges, and how best to support students.

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3. D’Antoni S, de Bari L, Valenti D, Borro M, Bonaccorso CM, Simmaco M, Vacca RA, Catania MV. Aberrant mitochondrial bioenergetics in the cerebral cortex of the Fmr1 knockout mouse model of fragile X syndrome. Biol Chem ;2019 (Nov 8)

Impaired energy metabolism may play a role in the pathogenesis of neurodevelopmental disorders including fragile X syndrome (FXS). We checked brain energy status and some aspects of cell bioenergetics, namely the activity of key glycolytic enzymes, glycerol-3-phosphate shuttle and mitochondrial respiratory chain (MRC) complexes, in the cerebral cortex of the Fmr1 knockout (KO) mouse model of FXS. We found that, despite a hyperactivation of MRC complexes, adenosine triphosphate (ATP) production via mitochondrial oxidative phosphorylation (OXPHOS) is compromised, resulting in brain energy impairment in juvenile and late-adult Fmr1 KO mice. Thus, an altered mitochondrial energy metabolism may contribute to neurological impairment in FXS.

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4. Kulinich AO, Reinhard SM, Rais M, Lovelace JW, Scott V, Binder DK, Razak KA, Ethell IM. Beneficial effects of sound exposure on auditory cortex development in a mouse model of Fragile X Syndrome. Neurobiol Dis ;2019 (Nov 4):104622.

BACKGROUND : Fragile X syndrome (FXS) is the most common genetic cause of autism and intellectual disability. Fragile X mental retardation gene (Fmr1) knock-out (KO) mice display core deficits of FXS, including abnormally increased sound-evoked responses, and show a delayed development of parvalbumin (PV) cells. Here, we present the surprising result that sound exposure during early development reduces correlates of auditory hypersensitivity in Fmr1 KO mice. METHODS : Fmr1 KO and wild-type (WT) mice were raised in a sound-attenuated environment (AE) or sound-exposed (SE) to 14kHz tones (5Hz repetition rate) from P9 until P21. At P21-P23, event-related potentials (ERPs), dendritic spine density, PV expression and phosphorylation of tropomyosin receptor kinase B (TrkB) were analyzed in the auditory cortex of AE and SE mice. RESULTS : Enhanced N1 amplitude of ERPs, impaired PV cell development, and increased spine density in layers (L) 2/3 and L5/6 excitatory neurons were observed in AE Fmr1 KO compared to WT mice. In contrast, developmental sound exposure normalized ERP N1 amplitude, density of PV cells and dendritic spines in SE Fmr1 KO mice. Finally, TrkB phosphorylation was reduced in AE Fmr1 KO, but was enhanced in SE Fmr1 KO mice, suggesting that BDNF-TrkB signaling may be regulated by sound exposure to influence PV cell development. CONCLUSIONS : Our results demonstrate that sound exposure, but not attenuation, during early developmental window restores molecular, cellular and functional properties in the auditory cortex of Fmr1 KO mice, and suggest this approach as a potential treatment for sensory phenotypes in FXS.

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5. Malaia EA, Ahn S, Rubchinsky LL. Dysregulation of Temporal Dynamics of Synchronous Neural Activity in Adolescents on Autism Spectrum. Autism Res ;2019 (Nov 8)

Autism spectrum disorder is increasingly understood to be based on atypical signal transfer among multiple interconnected networks in the brain. Relative temporal patterns of neural activity have been shown to underlie both the altered neurophysiology and the altered behaviors in a variety of neurogenic disorders. We assessed brain network dynamics variability in autism spectrum disorders (ASD) using measures of synchronization (phase-locking) strength, and timing of synchronization and desynchronization of neural activity (desynchronization ratio) across frequency bands of resting-state electroencephalography (EEG). Our analysis indicated that frontoparietal synchronization is higher in ASD but with more short periods of desynchronization. It also indicates that the relationship between the properties of neural synchronization and behavior is different in ASD and typically developing populations. Recent theoretical studies suggest that neural networks with a high desynchronization ratio have increased sensitivity to inputs. Our results point to the potential significance of this phenomenon to the autistic brain. This sensitivity may disrupt the production of an appropriate neural and behavioral responses to external stimuli. Cognitive processes dependent on the integration of activity from multiple networks maybe, as a result, particularly vulnerable to disruption. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : Parts of the brain can work together by synchronizing the activity of the neurons. We recorded the electrical activity of the brain in adolescents with autism spectrum disorder and then compared the recording to that of their peers without the diagnosis. We found that in participants with autism, there were a lot of very short time periods of non-synchronized activity between frontal and parietal parts of the brain. Mathematical models show that the brain system with this kind of activity is very sensitive to external events.

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6. Mu C, Corley MJ, Lee RWY, Wong M, Pang A, Arakaki G, Miyamoto R, Rho JM, Mickiewicz B, Dowlatabadi R, Vogel HJ, Korchemagin Y, Shearer J. Metabolic framework for the improvement of autism spectrum disorders by a modified ketogenic diet : a pilot study. J Proteome Res ;2019 (Nov 7)

The ketogenic diet (KD) can improve the core features of autism spectrum disorders (ASD) in some children, but the effects on overall metabolism remain unclear. This pilot study investigated behavioural parameters in relation to blood metabolites and trace elements in a cohort of 10 typically developed controls (TC) and 17 children with ASD at baseline and following a 3-month treatment with a modified KD regimen. A non-targeted, multiplatform metabolomics approach was employed, including Gas Chromatography-Mass Spectrometry, 1H Nuclear Magnetic Resonance Spectroscopy, and Inductively Coupled Plasma-Mass Spectrometry. Associations between plasma metabolites, trace elements, and behavior scores were investigated. Employing a combination of metabolomics platforms, 118 named metabolites and 73 trace elements were assessed. Relative to TC, a combination of glutamate, galactonate, and glycerol discriminated ASD with 88% accuracy. ASD had higher concentrations of galactose intermediates, gut microbe-derived trimethylamine N-oxide and N-acetylserotonin, and lower concentrations of 3-hydroxybutyrate and selenium at baseline. Following 3mo KD intervention, levels of circulating ketones and acetylcarnitine were increased. KD restored lower selenium levels in ASD to that of controls and correlation analysis identified a novel negative correlation between changes in selenium and behaviour scores. Based on the different behavior responses to the KD, we found that high responders had greater concentrations of 3-hydroxybutyrate and ornithine, with lower galactose. These findings enhance our current understanding of metabolic derangements present in ASD and may be of utility in predicting favorable responses to KD intervention.

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7. Naveed S, Waqas A, Amray AN, Memon RI, Javed N, Tahir MA, Ghozy S, Jahan N, Khan AS, Rahman A. Implementation and effectiveness of non-specialist mediated interventions for children with Autism Spectrum Disorder : A systematic review and meta-analysis. PLoS One ;2019 ;14(11):e0224362.

INTRODUCTION : In recent years, several non-specialist mediated interventions have been developed and tested to address problematic symptoms associated with autism. These can be implemented with a fraction of cost required for specialist delivered interventions. This review represents a robust evidence of clinical effectiveness of these interventions in improving the social, motor and communication deficits among children with autism. METHODS : An electronic search was conducted in eight academic databases from their inception to 31st December 2018. A total of 31 randomized controlled trials were published post-2010 while only 2 were published prior to it. Outcomes pertaining to communication, social skills and caregiver-child relationship were meta-analyzed when reported in > 2 studies. RESULTS : A significant improvement was noted in child distress (SMD = 0.55), communication (SMD = 0.23), expressive language (SMD = 0.47), joint engagement (SMD = 0.63), motor skills (SMD = 0.25), parental distress (SMD = 0.33) parental self-efficacy (SMD = 0.42) parent-child relationship (SMD = 0.67) repetitive behaviors (SMD = 0.33), self-regulation (SMD = 0.54), social skills (SMD = 0.53) symptom severity (SMD = 0.44) and visual reception (SMD = 0.29). CONCLUSION : Non-specialist mediated interventions for autism spectrum disorder demonstrate effectiveness across a range of outcomes for children with autism and their caregivers.

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8. Riva G, Riva E. CARERAID : Controlled Autonomous Robot for Early Detection and Rehabilitation of Autism and Intellectual Disability. Cyberpsychol Behav Soc Netw ;2019 (Nov) ;22(11):747-748.

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9. Singh J, Lanzarini E, Santosh P. Autonomic dysfunction and sudden death in patients with Rett syndrome : a systematic review. J Psychiatry Neurosci ;2019 (Nov 8) ;45(1):190033.

Background : Rett syndrome (RTT), a debilitating neuropsychiatric disorder that begins in early childhood, is characterized by impairments in the autonomic nervous system that can lead to sudden unexpected death. This study explores the mechanisms of autonomic dysfunction to identify potential risk factors for sudden death in patients with RTT. Methods : Following the Reporting Items for Systematic Review and Meta-Analyses (PRISMA) criteria, we undertook comprehensive systematic reviews using the PubMed, Scopus, Cochrane, PsycINFO, Embase and Web of Science databases. Results : We identified and critically appraised 39 articles for autonomic dysfunction and 5 for sudden death that satisfied the eligibility criteria. Following thematic analysis, we identified 7 themes : breathing irregularities, abnormal spontaneous brainstem activations, heart rate variability metrics, QTc changes, vagal imbalance, fluctuation in peptides and serotonergic neurotransmission. We grouped these 7 themes into 3 final themes : (A) brainstem modulation of breathing, (B) electrical instability of the cardiovascular system and (C) neurochemical changes contributing to autonomic decline. We described key evidence relating to each theme and identified important areas that could improve the clinical management of patients with RTT. Limitations : The heterogeneity of the methods used to assess autonomic function increased the difficulty of making inferences from the different studies. Conclusion : This study identified the important mediators of autonomic dysfunction and sudden death in patients with RTT. We proposed brainstem mechanisms and emphasized risk factors that increase brainstem vulnerability. We discussed clinical management to reduce sudden death and future directions for this vulnerable population.

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10. Tofani M, Galeoto G, Cazzetta D, Berardi A, Sansoni J, Valente D. Validation of the Pediatric Evaluation of Disability Inventory in an Italian Population with Autism Spectrum Disorder : a Cross-Sectional Study. Clin Ter ;2019 (Nov-Dec) ;170(6):e460-e464.

OBJECTIVES : To measure psychometric properties of the Italian version of the Pediatric Evaluation of Disability Inventory (PEDI-I) in a population with Autism Spectrum Disorder (ASD). METHODS : The PEDI-I was administered to different children with ASD. The internal consistency was examined by using Cronbach’s Alpha, while the intraclass correlation coefficient (ICC) was used to investigate both inter-observer and intra-observer reproducibility. Its concurrent validity was evaluated with the Italian version of the Barthel Index. RESULTS : The PEDI-I was administered to 60 children with a diagnosis of ASD. Cronbach’s Alpha showed statistically significant values (.885-.965). Inter-observer and intra-observer investigations confirm the reproducibility of the scale with a range of high and very high parameters. The Pearson Correlation Coefficient with the Barthel Index showed significant data for all PEDI-I subscales with a p<0.01. CONCLUSIONS : The PEDI-I showed good psychometric properties and it is possible to confirm its validity and reliability in ASD population. However, for better understanding of how PEDI-I works in clinical practice, further researches are recommended.

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