Pubmed du 20/07/19

samedi 20 juillet 2019

1. Anand N, Alayan A, Agrawal A, Kahwaty S, Nomoto E, Khandehroo B. Analysis of Spino-Pelvic Parameters and Segmental Lordosis with L5-S1 Oblique Lateral Interbody Fusion (OLIF 5-1) at the Bottom of a Long Construct in CMIS Correction of ASD. World Neurosurg ;2019 (Jul 16)

BACKGROUND : Lateral interbody fusion (LIF) is an effective adjuvant for CMIS treatment of ASD. Accessing L5-S1 with an oblique lateral approach (OLIF 5-1) allows for an ALIF at the lumbosacral junction without repositioning the patient. We review the early outcomes and complication of OLIF 5-1 at the bottom of the long construct for MIS treatment of ASD. METHODS : We queried prospectively collected registry of 111 consecutive ASD (Cobb>20, or SVA>50, or PI/LL mismatch>10) patients who underwent CMIS correction from January 2015-January 2019. Sixty patients were identified with 4+ levels fused and OLIF at L5-S1. Multilevel pre-psoas LIF+L5-S1 oblique lateral ALIF were done in the first stage. Three days later, stage 2 included MIS pedicle screws with aggressive rod contouring and derotation/translation. RESULTS : Mean age was 66.8yrs (48-79), mean FU was 24months (3-60). Mean level fused was 7 levels (4-9). Significant improvement in L5-S1 SL, LL, SVA, PI/LL mismatch and PT following the first stage (p<0.05) were found. There has been no intra-op vascular, ureteral, or sympathetic chain injury nor transient/permanent lumbar plexopathy. In two patients OLIF 5-1 was abandoned due to difficult access, and a TLIF was done at L5-S1 at the second stage. Five patients needed intra-op transfusion. There was no post-op ileus or L5-S1 pseudarthrosis. Significant improvements in VAS, ODI, SF-36, and SRS22 were found. CONCLUSION : The single position MIS L5-S1 OLIF at the bottom of a long construct in conjunction with multilevel pre-psoas LIF seems to be a safe and effective technique in improving SL, global LL and SVA with low risk of perioperative and postoperative complications.

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2. Bajestani GS, Behrooz M, Khani AG, Nouri-Baygi M, Mollaei A. Diagnosis of autism spectrum disorder based on complex network features. Comput Methods Programs Biomed ;2019 (Aug) ;177:277-283.

BACKGROUND AND OBJECTIVES : Autism spectrum disorder (ASD) is a disorder in the information flow of the human brain system that can lead to secondary problems for the patient. Only when ASD is diagnosed by clinical methods can the secondary problems be detected. Hence, diagnosis of ASD at an early age and in young children can prevent its secondary effects. METHODS : By employing the visibility graph (VG) algorithm, the present study examines the C3 single-channel of EEG signals and presents the differences among the topological features of complex networks resulting from these signals. The average degree (AD) can be a method for the detection of normal and ASD samples. RESULTS : With an accuracy 81/67%, the ASD class can be discerned. CONCLUSIONS : The current paper demonstrates that only by the usage of EEG signals of the brain’s C3 channel and the topological features of its network (AD and related features, such as RADACC and RADMPL) can ASD and NC target classes be distinguished at an early age.

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3. Brandenburg C, Blatt GJ. Differential serotonin transporter (5-HTT) and 5-HT2 receptor density in limbic and neocortical areas of adults and children with ASD : implications for SSRI efficacy. J Neurochem ;2019 (Jul 20)

As selective serotonin reuptake inhibitors (SSRIs) are among the most commonly prescribed medications in autism, we aimed to determine whether targets for SSRIs are differentially affected in three cortical areas in children and adults with autism compared to neurotypical individuals. Utilizing a large cohort of postmortem brain tissue (n=14-19 per group), saturation ligand binding assays were conducted on sections from the anterior cingulate cortex (ACC), posterior cingulate cortex (PCC) and fusiform gyrus (FG). Specific binding to the 5-HT transporter (5-HTT) as well as to 5-HT2 and 1A receptors (5-HT(2), 5-HT1A ) was quantified in superficial and deep layers of each region using the ligands [(3) H]-citalopram (5-HTT), [(3) H]-ketanserin (5-HT2 ) and [(3) H]-8-OH-DPAT (5-HT1A ). A Welch’s t-test was utilized to compare receptor densities (Bmax ), revealing a statistically significant decrease in 5-HTT within the ACC of the entire autism cohort. There was also a decrease in 5-HT2 receptor density in the ACC in the adult cohort, but not in child postmortem autism cases as compared to controls. Comparing linear regression lines of Bmax values plotted against age, shows a significantly lower intercept for 5-HTT in autism (p=0.025). 5-HT(2) density increases with age in control cases, whereas in autism there is a decrease with age and significantly different slopes between regression lines (p=0.032). This suggests a deficit in 5-HTT within the ACC in individuals with autism, while decreases in 5-HT(2) density are age-dependent. There were no differences in receptor densities in the PCC or FG in autism and no differences in ligand affinity (KD ) across all regions and ligands examined. This article is protected by copyright. All rights reserved.

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4. Carissimi C, Laudadio I, Palone F, Fulci V, Cesi V, Cardona F, Alfonsi C, Cucchiara S, Isoldi S, Stronati L. Functional analysis of gut microbiota and immunoinflammation in children with autism spectrum disorders. Dig Liver Dis ;2019 (Jul 16)

BACKGROUND AND AIMS : Recent evidence implicates gut microbiota (GM) and immune alterations in autism spectrum disorders (ASD). We assess GM profile and peripheral levels of immunological, neuronal and bacterial molecules in ASD children and controls. Alarmin HMGB1 was explored as a non-invasive biomarker to monitor gastrointestinal (GI) symptoms. METHODS : Thirty ASD children and 14 controls entered into the study. GM metagenomic analysis was performed for 16 ASD patients and 7 controls. GM functional profile was assessed by GO term analysis. Blood levels of IL-1beta, TNFalpha, TGFbeta, IL-10, INFgamma, IL-8, lipopolysaccharide, Neurotensin, Sortilin1 and GSSG/GSH ratio were analyzed in all subjects by ELISA. Fecal HMGB1 was analyzed by Western blot. RESULTS : We observed a significant decrease in bacterial diversity. Furthermore, 82 GO terms underrepresented in ASD. Four of them pointed at 3,3 phenylpropionate catabolism and were imputable to Escherichia coli (E. coli) group. Serum levels of TNFalpha, TGFbeta, NT, and SORT-1 increased in ASD patients. Fecal levels of HMGB1 correlated with GI sign severity in ASD children. CONCLUSIONS : We suggest that a decrease of E. coli might affect the propionate catabolism in ASD. We report occurrence of peripheral inflammation in ASD children. We propose fecal HMGB1 as a non-invasive biomarker to detect GI symptoms.

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Autism spectrum disorders (ASD) are considered an epidemic - only in the last 5 years the incidence of pathology has increased from 1 : 166 to 1:68 children. The main role in the pathogenesis of ASD currently belongs to the violation of the epigenetic status in the form of gene polymorphisms. An example is the polymorphic variants of the genes of the folate-methionine cycle enzymes, which regulate the epigenetic status through a methylation process. The article presents a case of autism spectrum disorder against the background of impaired epigenetic status (metabolic dopamine neurotransmitters and the methylation cycle). Individually selected metabolic correction based on biochemical parameters allowed improving behavior, stimulating speech development, stopping long subfebrile and hypersalivation.

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6. Hamner T, Raitano Lee N, Hocking DR, Vivanti G. Shared and syndrome-specific adaptive difficulties in preschoolers with Williams syndrome and autism spectrum disorder : a cross-syndrome study. J Intellect Disabil Res ;2019 (Jul 18)

BACKGROUND : Understanding adaptive functioning profiles in children with Williams syndrome (WS) and autism spectrum disorder (ASD) is critical to inform treatment strategies. However, knowledge in this area is limited and inconclusive. METHOD : The current study aimed to characterise the early adaptive profiles of young children with WS (n = 18 ; Mage = 47 months) and ASD (n = 26 ; Mage = 45 months) matched on chronological age and developmental age using the Vineland Scales of Adaptive Behavior, Second Edition. RESULTS : Results suggest that young children with WS and ASD do not differ on their overall level of adaptive functioning but that those with WS show relative strengths in the Socialisation scale compared with children with ASD. No other subscales differed between groups. Within groups, the WS group showed a profile of Communication, Daily Living Skills and Motor < Socialisation, whereas the ASD group did not evidence differences across subscales. CONCLUSIONS : Consideration of the shared and syndrome-specific adaptive profiles provides relevant insight on intervention targets and strategies. Given the shared challenges across the two clinical groups, implications and future directions are discussed.

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7. Hull L, Lai MC, Baron-Cohen S, Allison C, Smith P, Petrides KV, Mandy W. Gender differences in self-reported camouflaging in autistic and non-autistic adults. Autism ;2019 (Jul 18):1362361319864804.

Social camouflaging describes the use of strategies to compensate for and mask autistic characteristics during social interactions. A newly developed self-reported measure of camouflaging (Camouflaging Autistic Traits Questionnaire) was used in an online survey to measure gender differences in autistic (n = 306) and non-autistic adults (n = 472) without intellectual disability for the first time. Controlling for age and autistic-like traits, an interaction between gender and diagnostic status was found : autistic females demonstrated higher total camouflaging scores than autistic males (partial eta(2) = 0.08), but there was no camouflaging gender difference for non-autistic people. Autistic females scored higher than males on two of three Camouflaging Autistic Traits Questionnaire subscales : Masking (partial eta(2) = 0.05) and Assimilation (partial eta(2) = 0.06), but not on the Compensation subscale. No differences were found between non-autistic males and females on any subscale. No differences were found between non-binary individuals and other genders in either autistic or non-autistic groups, although samples were underpowered. These findings support previous observations of greater camouflaging in autistic females than males and demonstrate for the first time no self-reported gender difference in non-autistic adults.

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8. Inoue M. Assessments and Interventions to Address Challenging Behavior in Individuals with Intellectual Disability and Autism Spectrum Disorder in Japan : A Consolidated Review. Yonago Acta Med ;2019 (Jun) ;62(2):169-181.

Intellectual disability and autism spectrum disorder are neurodevelopmental disorders that emerge during the developmental period. A significant barrier that impedes the social adaptation of individuals with these disorders is the exhibition of problem behaviors, such as self-injurious, stereotyped, and aggressive/destructive behaviors. In recent years, these problem behaviors have been collectively referred to as "challenging behavior," in accordance with the contention that they result from an interaction between the individual and his or her social environment. Evidence-based psychosocial interventions that adopt the functional approach to treating challenging behavior are increasing. However, in order to effectively implement such interventions in educational settings and welfare facilities, it is essential to develop staff training programs and usable psychometric assessments. Accordingly, a brief overview of research studies on challenging behavior that have been conducted in Japan, as well as the various support systems that are available to individuals who exhibit challenging behavior, are presented in this article. The discussion makes it apparent that, in order to improve treatment systems in Japan that are aimed at addressing challenging behavior, it is necessary to establish not only better staff training programs, but also reliable and valid assessments measuring challenging behavior that can be readily used by teachers and parents. On the basis of this discussion, it is proposed that technological advancements must be applied to psychosocial approaches in the study of problem behaviors, in order to develop assessment system using software applications and automatic measurement system of target behaviors using sensing technology.

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9. Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, Tamburrino F, Mongelli P, Percesepe A, Visconti P, Parmeggiani A, Seri M, Graziano C. Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders. Gene ;2019 (Jul 20) ;706:162-171.

In clinical genetics, the need to discriminate between benign and pathogenic variants identified in patients with neurodevelopmental disorders is an absolute necessity. Copy number variants (CNVs) of small size can enable the identification of genes that are critical for neurologic development. However, assigning a definite association with a specific disorder is a difficult task. Among 328 trios analyzed over seven years of activity in a single laboratory, we identified 19 unrelated patients (5.8%) who carried a small (<500kb) de novo CNV. Four patients had an additional independent de novo CNV. Nine had a variant that could be assigned as definitely pathogenic, whereas the remaining CNVs were considered as variants of unknown significance (VUS). We report clinical and molecular findings of patients harboring VUS. We reviewed the medical literature available for genes impacted by CNVs, obtained the probability of truncating loss-of-function intolerance, and compared overlapping CNVs reported in databases. The classification of small non-recurrent CNVs remains difficult but, among our findings, we provide support for a role of SND1 in the susceptibility of autism, describe a new case of the rare 17p13.1 microduplication syndrome, and report an X-linked duplication involving KIF4A and DLG3 as a likely cause of epilepsy.

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10. Miryounesi M, Bahari S, Salehpour S, Alipour N, Ghafouri-Fard S. ELMO Domain Containing 1 (ELMOD1) Gene Mutation Is Associated with Mental Retardation and Autism Spectrum Disorder. J Mol Neurosci ;2019 (Jul 20)

ELMO domain containing 1 (ELMOD1) encodes a protein with GTPase-activating functions. Previous studies have confirmed its overexpression in brain tissues. Although no previous study has reported mutations in this gene in human subjects, spontaneous inactivating mutations in the mouse homolog of this gene have been associated with deafness and balance problems. In the current study, we have performed whole exome sequencing (WES) in a patient with intellectual disability. We found a novel mutation in ELMOD1 gene (c.571delG, p.D191MfsTer25) in the proband and two other affected cases in the family. Segregation analysis showed that parents carried the mutation in the heterozygote state. Consequently, the current study reports the first case of mutation in ELMOD1 in human subjects and demonstrates the significant difference in the phenotypes associated with ELMOD1 mutations in humans and mice.

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11. Murray DS, J SA, Coury DL, Kuhlthau KA, Seide J, Kelly A, Fedele A, Eskra D, Lannon C. Transforming an Autism Pediatric Research Network into a Learning Health System : Lessons Learned. Pediatr Qual Saf ;2019 (Mar-Apr) ;4(2):e152.

Introduction : The Autism Speaks Autism Treatment Network that serves as the Autism Intervention and Research Network on Physical Health (ATN/AIR-P) has a mission to improve the health and well-being of children with Autism Spectrum Disorder and determine the best practices that lead to improved outcomes and expedite the translation of findings to practice. To better achieve this mission, the ATN/AIR-P is engaging in a design process to transition to a Learning Network (LN), the Autism Learning Health Network. The purpose of this paper is to : (1) make the medical and patient communities aware of an Autism LN that is based on the Institute of Medicine’s definition of a Learning Health System ; (2) describe how and why the ATN/AIR-P transformed to an LN ; and (3) share lessons learned that might inform the transition of future existing networks surrounding other conditions. Methods : Design methods included : an in-person design session with various stakeholders, the development of a Key Driver Diagram and redesign of organizational processes, network governance, and data collection and analytics. Results : We realized many benefits in making the transition to an LN along with many lessons that can inform the design and implementation of the LN model when transforming existing networks to learning health systems. Conclusions : Transitioning a well-established research network requires a complex redesign of existing processes, data infrastructure, and cultural shifts compared with developing a new LN. We identified factors that may inform the transition of future established networks to expedite the process.

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12. Parker ML, Diamond RM, Del Guercio AD. Care Coordination of Autism Spectrum Disorder : A Solution-Focused Approach. Issues Ment Health Nurs ;2019 (Jul 19):1-8.

The expanding practice of multi-disciplinary care to address the complex nature of Autism Spectrum Disorder (ASD) suggests that there is a need for a means of coordinating care that transcends the disciplinary distinctions of relevant ASD treatment providers. As ASD services become more specialized, there is a growing need for effective care coordination with providers across the systems of care. Nursing professionals are ideally qualified to support families affected by ASD, as they provide a necessary holistic lens of health and wellbeing to obtain the appropriate treatments. Solution-focused brief therapy has been applied to a growing number of clinical settings, indicating solution-focused techniques are applicable to the various contexts associated with ASD treatments. We provide a case presentation to demonstrate a solution-focused approach to address ASD-related concerns within the family that are generalizable to coordination of care.

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13. Zhang Q, Wu H, Zou M, Li L, Li Q, Sun C, Xia W, Cao Y, Wu L. Folic acid improves abnormal behavior via mitigation of oxidative stress, inflammation, and ferroptosis in the BTBR T+ tf/J mouse model of autism. J Nutr Biochem ;2019 (Jun 18) ;71:98-109.

The aim of this study was to examine the effects of folic acid (FA) on the autistic phenotypes in BTBR T+ Itpr3tf/J (BTBR) mice and to investigate underlying mechanisms. Mice received FA (0.2 mg/kg/day) orally from postnatal days 14 to 35. Mice were then tested for stereotyped and repetitive behaviors, social interaction, and spatial learning and memory at the end of FA supplementation. Oxidative stress, neuroinflammatory responses and ferroptosis-related proteins in the brain were also evaluated. FA supplementation in BTBR mice reduced repetitive and stereotyped behavior, improved social communication, and enhanced memory and spatial learning. FA supplementation also reduced neuronal loss in hippocampal CA1 regions of the brain and decreased the levels of the proinflammatory cytokines such as interleukin-1beta (IL-1beta), Iba-1, IL-18, tumor necrosis factor-a, and IL-6 and glial fibrillary acidic protein in the hippocampus. FA supplementation changed the malondialdehyde and glutathione levels and superoxide dismutase (SOD) and glutathione peroxidase activities in the hippocampus. FA supplementation inhibited the elevation of the SOD1 and TFR protein levels and enhanced the relative expression levels of glutathione peroxidase 4 and ferroportin 1 in the hippocampus and increased the relative levels of phospho-Ca2+/calmodulin-dependent protein kinase II and phospho-cAMP-response element binding protein in the hippocampus. FA oral supplementation to BTBR mice rescued stereotyped and repetitive behaviors, social deficit, and spatial learning and memory impairments, likely by improving the oxidative-stress and inflammatory responses by altering the ferroptosis signaling pathways.

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