Pubmed du 28/08/19

mercredi 28 août 2019

1. Erratum : Soda et al., "Hyperexcitability and Hyperplasticity Disrupt Cerebellar Signal Transfer in the IB2 KO Mouse Model of Autism". J Neurosci ;2019 (Aug 28) ;39(35):7029.

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2. Asif M, Vicente AM, Couto FM. FunVar : A Systematic Pipeline to Unravel the Convergence Patterns of Genetic Variants in ASD, a Paradigmatic Complex Disease. J Biomed Inform ;2019 (Aug 24):103273.

In recent years, the technological advances for capturing genetic variation in large populations led to the identification of large numbers of putative or disease-causing variants. However, their mechanistic understanding is lagging far behind and has posed new challenges regarding their relevance for disease phenotypes, particularly for common complex disorders. In this study, we propose a systematic pipeline to infer biological meaning from genetic variants, namely rare Copy Number Variants (CNVs). The pipeline consists of three modules that seek to 1) improve genetic data quality by excluding low confidence CNVs, 2) identify disrupted biological processes, and 3) aggregate similar enriched biological processes terms using semantic similarity. The proposed pipeline was applied to CNVs from individuals diagnosed with Autism Spectrum Disorder (ASD). We found that rare CNVs disrupting brain expressed genes dysregulated a wide range of biological processes, such as nervous system development and protein polyubiquitination. The disrupted biological processes identified in ASD patients were in accordance with previous findings. This coherence with literature indicates the feasibility of the proposed pipeline in interpreting the biological role of genetic variants in complex disease development. The suggested pipeline is easily adjustable at each step and its independence from any specific dataset and software makes it an effective tool in analyzing existing genetic resources. The FunVar pipeline is available at and includes pre and post processing steps to effectively interpret biological mechanisms of putative disease causing genetic variants.

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3. Boterberg S, Van Coster R, Roeyers H. Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder. J Autism Dev Disord ;2019 (Aug 28)

This study explored regression patterns in 100 children with ASD (3-11 years) using several approaches to enhance the validity of retrospective parent report. Both early development and outcome were examined in regression groups defined by 36 months age cut-off and two underlying empirical patterns based on type and onset age. Results over regression groups were generally consistent. During early development, children with regression showed a similar amount of social atypicalities and stereotyped behaviour as compared to children without regression. However, parents indicated less communication skills which could be a valuable predictor of regression. Development after regression was characterised by early language delay and more restricted and repetitive behaviour. The findings provide insight into the diagnosis and prognosis of regression in ASD.

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4. Cross L, Farha M, Atherton G. The Animal in Me : Enhancing Emotion Recognition in Adolescents with Autism Using Animal Filters. J Autism Dev Disord ;2019 (Aug 26)

People with autism are often characterized as having difficulties with theory of mind abilities such as emotion recognition. However, rather than being a pervasive deficit of ’mindblindness,’ a number of studies suggests these difficulties vary by context, and when people with autism mindread non-human agents, such as animals or cartoons, these abilities improve. To replicate this effect, 15 adolescents with both autism and intellectual disability participated in a test of facial emotion recognition, with both human and animal faces. Participants performed significantly better on the animal version of the assessment compared to the human version, and human rather than animal scores were the strongest predictor of symptom severity. These results were shown to be primarily driven by improvement in recognition of the emotions happiness and anger in animal rather than human faces. Implications with regards to social motivation and theory of mind interventions are discussed.

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5. Dawson-Squibb JJ, de Vries PJ. Developing an Evaluation Framework for Parent Education and Training in Autism Spectrum Disorder : Results of a Multi-stakeholder Process. J Autism Dev Disord ;2019 (Aug 28)

Despite the need for parent education and training programmes in autism spectrum disorder (ASD), there is no generally-accepted evaluation framework to select programmes for different settings. Here we generated an evaluation framework using a multi-stakeholder, implementation science approach. Purposive sampling identified ASD experts, implementation/health systems experts, and parents/carers of individuals with ASD. A consensus-building stakeholder workshop with 14 stakeholders and thematic analysis was used to generate themes and components of the framework. Main themes included ’Outcomes’ (parent, child, family and community), ’Processes and Procedures’ (accessibility, acceptability, psychological process, and referral pathways) and ’Implementation Landscape’ (sustainability, scalability, integration and coordination, and monitoring and evaluation). We propose that the evaluation framework and Evaluation Framework Checklist generated could guide clinicians, researchers and policy-makers.

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6. De Giorgi R, De Crescenzo F, D’Alo GL, Rizzo Pesci N, Di Franco V, Sandini C, Armando M. Prevalence of Non-Affective Psychoses in Individuals with Autism Spectrum Disorders : A Systematic Review. J Clin Med ;2019 (Aug 24) ;8(9)

Autism spectrum disorders (ASD) and non-affective psychoses such as schizophrenia are commonly acknowledged as discrete entities. Previous research has revealed evidence of high comorbidity between these conditions, but their differential diagnosis proves difficult in routine clinical practice due to the similarities between core symptoms of each disorder. The prevalence of comorbid non-affective psychoses in individuals with ASD is uncertain, with studies reporting rates ranging from 0% to 61.5%. We therefore performed a systematic review and pooled analysis of the available studies reporting the prevalence of non-affective psychosis in ASD. Fourteen studies, including a total of 1708 participants, were included, with a weighted pooled prevalence assessed at 9.5% (95% CI 2.6 to 16.0). In view of significant heterogeneity amongst the studies, subgroup analyses were conducted. We observed higher prevalence of non-affective psychoses among ASD inpatients versus outpatients, when operationalised criteria were used, and in studies with smaller sample sizes, whereas the figures were comparable between children and adults with ASD. Our results suggest that future studies involving larger samples should implement both operationalized criteria and specific scales for the assessment of psychotic symptoms in individuals with ASD. A deeper understanding of both differential and comorbid features of ASD and non-affective psychosis will be required for the development of optimized clinical management protocols.

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7. Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O’Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med ;2019 ;4:19.

Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK ( of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DNA from saliva. We identified variants in genes and loci that are clinically recognized causes or significant contributors to ASD in 10.4% of families without previous genetic findings. In addition, we identified variants that are possibly associated with ASD in an additional 3.4% of families. A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.1 provides statistical support for 26 ASD risk genes. While most of these genes are already known ASD risk genes, BRSK2 has the strongest statistical support and reaches genome-wide significance as a risk gene for ASD (p-value = 2.3e-06). Future studies leveraging the thousands of individuals with ASD who have enrolled in SPARK are likely to further clarify the genetic risk factors associated with ASD as well as allow accelerate ASD research that incorporates genetic etiology.

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8. Hao Z, Wu Q, Li Z, Li Y, Li Q, Lai X, Liu H, Zhang M, Yang T, Chen J, Tang Y, Miao J, Xu H, Li T, Hu R. Maternal exposure to triclosan constitutes a yet unrecognized risk factor for autism spectrum disorders. Cell Res ;2019 (Aug 28)

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9. Manicacci M, Bouteyre E, Despax J, Brejard V. Involvement of Emotional Intelligence in Resilience and Coping in Mothers of Autistic Children. J Autism Dev Disord ;2019 (Aug 28)

In a context described as a challenge in parenting (having an autistic child), we sought to highlight the emotional skills that mothers gain as a result of interacting with their child, and how they then use these skills. Mothers of autistic children (n = 136) and mothers of non-autistic children (n = 139) responded to emotional intelligence, resilience, and coping scales. Comparisons revealed smaller differences between groups than expected. Nevertheless, mothers of autistic children showed greater resilience abilities than mothers of non-autistic children. Moreover, we noted differences between both groups regarding their use of emotional skills. Emotional intelligence is a resource that deserves to be explored in terms of its clinical implications, especially among the parents of autistic children.

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10. Neufeld J, Hagstrom A, Van’t Westeinde A, Lundin K, Cauvet E, Willfors C, Isaksson J, Lichtenstein P, Bolte S. Global and local visual processing in autism - a co-twin-control study. J Child Psychol Psychiatry ;2019 (Aug 26)

BACKGROUND : Autism Spectrum Disorder (ASD) is associated with altered global and local visual processing. However, the nature of these alterations remains controversial, with contradictory findings and notions ranging from a reduced drive to integrate information into a coherent ’gestalt’ ("weak central coherence" = WCC) to an enhanced perceptual functioning (EPF) in local processing. METHODS : This study assessed the association between autism and global/local visual processing, using a large sample of monozygotic (MZ) and dizygotic (DZ) twins (N = 290, 48% females, age = 8-31 years). The Fragmented Pictures Test (FPT) assessed global processing, whereas local processing was estimated with the Embedded Figures Test (EFT) and the Block Design Test (BDT). Autism was assessed both categorically (clinical diagnosis), and dimensionally (autistic traits). Associations between visual tasks and autism were estimated both across the cohort and within-twin pairs where all factors shared between twins are implicitly controlled. RESULTS : Clinical diagnosis and autistic traits predicted a need for more visual information for gestalt processing in the FPT across the cohort. For clinical diagnosis, this association remained within-pairs and at trend-level even within MZ twin pairs alone. ASD and higher autistic traits predicted lower EFT and BDT performance across the cohort, but these associations were lost within-pairs. CONCLUSIONS : In line with the WCC account, our findings indicate an association between autism and reduced global visual processing in children, adolescents and young adults (but no evidence for EPF). Observing a similar association within MZ twins suggests a non-shared environmental contribution.

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11. Pecora LA, Hancock GI, Mesibov GB, Stokes MA. Characterising the Sexuality and Sexual Experiences of Autistic Females. J Autism Dev Disord ;2019 (Aug 28)

Current understandings of the sexuality of autistic females have been predominantly drawn from qualitative studies. This study aimed to quantitatively examine the sexual functioning of autistic females (N = 135), by comparing these to the sexual interest, behaviours, and experiences to 96 autistic males and 161 typically developing females. Autistic females reported less sexual interest, yet more experiences than autistic males. More autistic females also reported engaging in sexual behaviours that were later regretted, unwanted, or receiving unwanted sexual advances. Differences between autistic and typically developing females were significant. Results indicate that due to a mismatch between less sexual interest, yet increased sexual behaviours, autistic women are at greater risk of negative sexual experiences including victimisation and abuse than autistic men.

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12. Pitzianti MB, Santamaria Palombo A, Esposito S, Pasini A. Rett Syndrome in Males : The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28. Int J Environ Res Public Health ;2019 (Aug 23) ;16(17)

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

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13. Rutherford M, Baxter J, Grayson Z, Johnston L, O’Hare A. Visual supports at home and in the community for individuals with autism spectrum disorders : A scoping review. Autism ;2019 (Aug 26):1362361319871756.

Visual supports are recommended in autism spectrum disorder clinical guidelines. They can reduce anxiety, increase predictability, support communication and improve participation. They are implemented regularly in schools, but evidence about home visual supports is limited. This article reports results of a scoping literature review, alongside qualitative evaluation with parents and professionals. We report findings from 34 studies, identifying four categories of visual support and heterogeneity in participant characteristics, intervention methods, environments and outcome measures. Qualitative data from questionnaires (n = 101) and focus groups generated key themes about home visual supports, through thematic analysis : (1) Accessibility, (2) Participation-focussed (3) Individualisation, (4) Teaching Methods, (5) Consistency, and (6) Information and Training. We propose consensus with terminology and implications for practice and research.

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14. Schrott R, Acharya K, Itchon-Ramos N, Hawkey AB, Pippen E, Mitchell JT, Kollins SH, Levin ED, Murphy SK. Cannabis use is associated with potentially heritable widespread changes in autism candidate gene DLGAP2 DNA methylation in sperm. Epigenetics ;2019 (Aug 26):1-13.

Parental cannabis use has been associated with adverse neurodevelopmental outcomes in offspring, but how such phenotypes are transmitted is largely unknown. Using reduced representation bisulphite sequencing (RRBS), we recently demonstrated that cannabis use is associated with widespread DNA methylation changes in human and rat sperm. Discs-Large Associated Protein 2 (DLGAP2), involved in synapse organization, neuronal signaling, and strongly implicated in autism, exhibited significant hypomethylation (p < 0.05) at 17 CpG sites in human sperm. We successfully validated the differential methylation present in DLGAP2 for nine CpG sites located in intron seven (p < 0.05) using quantitative bisulphite pyrosequencing. Intron 7 DNA methylation and DLGAP2 expression in human conceptal brain tissue were inversely correlated (p < 0.01). Adult male rats exposed to delta-9-tetrahydrocannabinol (THC) showed differential DNA methylation at Dlgap2 in sperm (p < 0.03), as did the nucleus accumbens of rats whose fathers were exposed to THC prior to conception (p < 0.05). Altogether, these results warrant further investigation into the effects of preconception cannabis use in males and the potential effects on subsequent generations.

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15. Stalnaker LD, Prasher P, Flesher S. Rickets treatment improves more than bone health in toddler with autism spectrum disorder : A brief report. SAGE Open Med Case Rep ;2019 ;7:2050313X19870026.

Children with autism spectrum disorder have been found to have lower levels of vitamin D than their peers. Our case report supports the hypothesis that vitamin D may be an effective treatment for developmental delay in autism. In addition, we review the literature surrounding vitamin D deficiency as a potential cause of autism spectrum disorder and the role that vitamin D may play in treatment.

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16. Swiggum M, Grant L. Monitoring Procedural Pain and Distress in a Child With Rett Syndrome : A Case Report. Pediatr Phys Ther ;2019 (Aug 28)

BACKGROUND AND PURPOSE : Whole body vibration training is a viable option for children with Rett syndrome ; however, the positioning requirements and intense vibration may be interpreted as pain. CASE : A 13-year-old girl with a diagnosis of Rett syndrome, Stage IV, participated. The Individualized Numeric Rating Scale was developed in collaboration with the caregiver and scored by a physical therapist and student physical therapists during 16 sessions of whole body vibration training. OUTCOMES : The therapist and students reached 100% agreement on the Individualized Numeric Rating Scale ratings and successfully provided distractions to prevent pain and distress from reaching a level 5 out of 10 for 139 of 144 sessions. CONCLUSION : This is the first case in the literature to demonstrate use of the Individualized Numeric Rating Scale with a child who is nonverbal during a potentially painful physical therapy procedure.

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17. Yao W, Huang J, He H. Corrigendum to ’ Over-expressed LOC101927196 suppressed oxidative stress levels and neuron cell proliferation in a rat model of autism through disrupting the Wnt signaling pathway by targeting FZD3’. Cell Signal ;2019 (Aug 28):109396.

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18. Yu Y, McGrew JH, Boloor J. Effects of Caregiver-Focused Programs on Psychosocial Outcomes in Caregivers of Individuals with ASD : A Meta-analysis. J Autism Dev Disord ;2019 (Aug 26)

The current meta-analysis comprehensively reviewed group-design studies of interventions designed to improve ASD caregiver psychosocial outcomes and explored potential moderators of effectiveness. Forty-one unique studies targeting 1771 caregivers met inclusion criteria. Overall, the interventions had a small positive effect in improving psychosocial outcomes in caregivers of individuals with ASD (within-subjects : Hedges’ g = .44 ; between-subjects : Hedges’ g = .28). Most intervention approaches demonstrated some evidence of effectiveness. Acceptance and commitment therapy, mindfulness-based interventions, and cognitive behavioral treatments demonstrated the strongest impact in improving caregiver psychosocial outcomes in pre-post comparisons. Although the results provide preliminary support for the effectiveness of caregiver-focused interventions, more studies with larger sample sizes, rigorous research designs, and long-term follow-up assessments are needed.

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