Pubmed du 11/03/19

lundi 11 mars 2019

1. Green RM, Travers AM, Howe Y, McDougle CJ. Women and Autism Spectrum Disorder : Diagnosis and Implications for Treatment of Adolescents and Adults. Curr Psychiatry Rep. 2019 ; 21(4) : 22.

PURPOSE OF REVIEW : We review the recent literature regarding the implications of gender on the diagnosis and treatment of autism spectrum disorder (ASD) in women and adolescent females. We also discuss important clinical observations in treating this population. RECENT FINDINGS : Growing research supports gender specificity in ASD symptom presentation. Differing phenotypes, psychiatric co-morbidities, and level of "camouflaging" (behavioral coping strategies to conceal symptoms for use in social situations) are thought to further contribute to the discrepancy in prevalence rates and resulting misdiagnosis or delayed diagnosis in adolescent females and women. Both nosological and cultural factors appear to be contributing to differences in the diagnosis of ASD in women. These differences in presentation have important implications for late diagnosis, treatment of ASD, and the quality of life for women with autism.

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2. Khayatzadeh-Mahani A, Wittevrongel K, Nicholas DB, Zwicker JD. Prioritizing barriers and solutions to improve employment for persons with developmental disabilities. Disabil Rehabil. 2019 : 1-11.

PURPOSE : Persons with a developmental disability have the lowest rate of labour force participation relative to other disabilities. The widening gap between the labour force participation of persons with versus without disability has been an enduring concern for many governments across the globe, which has led to policy initiatives such as labour market activation programs, welfare reforms, and equality laws. Despite these policies, persistently poor labour force participation rates for persons with developmental disabilities suggest that this population experiences pervasive barriers to participating in the labour force. MATERIALS AND METHODS : In this study, a two-phase qualitative research design was used to systematically identify, explore and prioritize barriers to employment for persons with developmental disabilities, potential policy solutions and criteria for evaluating future policy initiatives. Incorporating diverse stakeholder perspectives, a Nominal Group Technique and a modified Delphi technique were used to collect and analyze data. RESULTS : Findings indicate that barriers to employment for persons with developmental disabilities are multi-factorial and policy solutions to address these barriers require stakeholder engagement and collaboration from multiple sectors. CONCLUSIONS : Individual, environmental and societal factors all impact employment outcomes for persons with developmental disabilities. Policy and decision makers need to address barriers to employment for persons with developmental disabilities more holistically by designing policies considering employers and the workplace, persons with developmental disabilities and the broader society. Findings call for cross-sectoral collaboration using a Whole of Government approach. Implications for Rehabilitation Persons with a developmental disability face lower levels of labour force participation than any other disability group. Individual, environmental and societal factors all impact employment outcomes for persons with developmental disabilities. Decision and policy makers need to address barriers to employment for persons with developmental disabilities holistically through policies guiding employers and broader societal behaviour in addition to those aimed at the individuals (such as skill development or training). Due to multi-factorial nature of barriers to employment for persons with developmental disabilities, policy solutions are wide-ranging and fall under the responsibility of multiple sectors for implementation. This calls for cross-sectoral collaboration using a "Whole of Government" approach, with shared goals and integrated responses.

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3. Kulage KM, Goldberg J, Usseglio J, Romero D, Bain JM, Smaldone AM. How has DSM-5 Affected Autism Diagnosis ? A 5-Year Follow-Up Systematic Literature Review and Meta-analysis. J Autism Dev Disord. 2019.

We conducted a 5-year follow-up systematic review and meta-analysis to determine change in frequency of autism spectrum disorder (ASD) diagnosis since diagnostic and statistical manual 5 (DSM-5) publication and explore the impact of Social Communication Disorder (SCD). For 33 included studies, use of DSM-5 criteria suggests decreases in diagnosis for ASD [20.8% (16.0-26.7), p < 0.001], DSM-IV-TR Autistic Disorder [10.1% (6.2-16.0), p < 0.001], and Asperger’s [23.3% (12.9-38.5), p = 0.001] ; pervasive developmental disorder-not otherwise specified decrease was not significant [46.1% (34.6-58.0), p = 0.52]. Less than one-third [28.8% (13.9-50.5), p = 0.06] of individuals diagnosed with DSM-IV-TR but not DSM-5 ASD would qualify for SCD. Findings suggest smaller decreases in ASD diagnoses compared to earlier reviews. Future research is needed as concerns remain for impaired individuals without a diagnosis.

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4. Lee K, Schertz HH. Brief Report : Analysis of the Relationship Between Turn Taking and Joint Attention for Toddlers with Autism. J Autism Dev Disord. 2019.

The relationship between turn taking (i.e., back-and-forth preverbal communicative exchanges) and joint attention has not been studied in interactions between children with autism and caregivers. In joint attention, a form of preverbal social communication, young children socially share attention with a partner about objects, a competency that is difficult for toddlers with autism. Video data of interactions between caregivers and 61 toddlers with autism who received joint attention-focused intervention were analyzed to determine associations between turn taking and joint attention. Results indicate a positive relationship between the two forms of social communication. Further study is needed to determine the extent to which turn taking may play a foundational role in supporting joint attention development for toddlers with autism.

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5. Marino F, Chila P, Sfrazzetto ST, Carrozza C, Crimi I, Failla C, Busa M, Bernava G, Tartarisco G, Vagni D, Ruta L, Pioggia G. Outcomes of a Robot-Assisted Social-Emotional Understanding Intervention for Young Children with Autism Spectrum Disorders. J Autism Dev Disord. 2019.

This study is a randomized control trial aimed at testing the role of a human-assisted social robot as an intervention mediator in a socio-emotional understanding protocol for children with autism spectrum disorders (ASD). Fourteen children (4-8 years old) were randomly assigned to 10 sessions of a cognitive behavioural therapy (CBT) intervention implemented in a group setting either with or without the assistance of a social robot. The CBT protocol was based on Rational Emotive Behaviour Therapy (REBT) principles. Pre- and post-intervention assessments were conducted using the Test of Emotional Comprehension (TEC) and the Emotional Lexicon Test (ELT). Substantial improvements in contextualized emotion recognition, comprehension and emotional perspective-taking through the use of human-assisted social robots were attained.

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6. Melogno S, Pinto MA, Scalisi TG, Orsolini M, Tarani L, Di Filippo G. Reasoning on Figurative Language : A Preliminary Study on Children with Autism Spectrum Disorder and Klinefelter Syndrome. Brain Sci. 2019 ; 9(3).

In this study we explored metaphor and idiom competencies in two clinical populations, children with autistic spectrum disorder (ASD) and children with Klinefelter syndrome (KS), (age range : 9(-)12), compared to typically developing (TD) children of the same age. These three groups were tested with two multiple-choice tests assessing idiom comprehension through iconic and verbal alternatives and a metaphor comprehension test composed of novel, physical-psychological metaphors, requesting verbal explanations. To these instruments, another test was added, assessing basic sentence comprehension. Performances on the different linguistic tasks were examined by means of discriminant analysis which showed that idiom comprehension had a very small weight in distinguishing children with ASD from TD controls, whereas metaphor explanation did distinguish them. This study suggests that figurative language comprehension is not a "core deficit" per se in individuals with ASD. Only when the task requires to explicitly construct and explain a semantic mapping between the two terms of a metaphor does the performance of children with ASD significantly deviate from the typical population. These results are interpreted in terms of a difficulty in children with ASD and KS with complex cognitive and linguistic processes and also in relation with clinical assessment.

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7. Newman C, Cashin A, Graham I. Identification of service development needs for incarcerated adults with autism spectrum disorders in an Australian prison system. International journal of prisoner health. 2019 ; 15(1) : 24-36.

PURPOSE : The purpose of this paper is to identify and deliberate the service development needs required for the improvement of service provision for incarcerated adults with autism spectrum disorder (ASD) in NSW, Australia. DESIGN/METHODOLOGY/APPROACH : Consultation groups were conducted to bring together n=5 key stakeholders from heath and correctional-based services in the prison system. A facilitated asynchronous e-mail-based discussion occurred amongst group members between consultation group meetings. FINDINGS : Two main themes were identified : detecting persons with ASD and providing appropriate care. Participants discussed current service gaps with regard to the identification of people with ASD at the point of contact with the prison service, and the difficulties associated with diagnosing prisoners with ASD. The need for effective alert systems to detect persons with ASD in custody was identified. The current absence of ASD-specific support services in prison was highlighted, and recommendations for improvement suggested. PRACTICAL IMPLICATIONS : Current health and correctional-based service provision failed to adequately support incarcerated adults with ASD. Improvements in prison-entry screening processes, alert systems and diagnostic practices are required. Multidisciplinary collaboration between prison-based and external service providers is required for the development of a model of care based on individualised case management to adequately support incarcerated adults with ASD in prison. ORIGINALITY/VALUE : Given the lack of reported service provision for incarcerated adults with ASD internationally, other prison-based services are likely to experience similar service development needs and see the relevance of the recommendations made directly from the study findings.

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8. Pal R, Bhattacharya A. Modelling Protein Synthesis as A Biomarker in Fragile X Syndrome Patient-Derived Cells. Brain Sci. 2019 ; 9(3).

The most conserved molecular phenotype of Fragile X Syndrome (FXS) is aberrant protein synthesis. This has been validated in a variety of experimental model systems from zebrafish to rats, patient-derived lymphoblasts and fibroblasts. With the advent of personalized medicine paradigms, patient-derived cells and their derivatives are gaining more translational importance, not only to model disease in a dish, but also for biomarker discovery. Here we review past and current practices of measuring protein synthesis in FXS, studies in patient derived cells and the inherent challenges in measuring protein synthesis in them to offer usable avenues of modeling this important metabolic metric for further biomarker development.

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9. Raza S, Sacrey LR, Zwaigenbaum L, Bryson S, Brian J, Smith IM, Roberts W, Szatmari P, Vaillancourt T, Roncadin C, Garon N. Relationship Between Early Social-Emotional Behavior and Autism Spectrum Disorder : A High-Risk Sibling Study. J Autism Dev Disord. 2019.

Social-emotional behavior in autism spectrum disorder (ASD) was examined among high-risk (HR ; siblings of children diagnosed with ASD) and low-risk (LR ; no family history of ASD) toddlers. Caregivers completed the Infant-Toddler Social Emotional Assessment (ITSEA) at 18 months, and blind diagnostic assessment for ASD was conducted at 36 months. Results indicated impairment in social-emotional functioning among HR toddlers subsequently diagnosed with ASD compared to other HR and LR toddlers, such that ITSEA domains (Internalizing, Dysregulation, Competence) and subdomains predicted later ASD symptoms and diagnosis. Receiver operating curves of optimal ITSEA cutoffs ranged from 0.23 to 0.44 for sensitivity, and 0.74 to 0.89 for specificity. Although classification accuracy for ASD was limited, group differences highlight the importance of considering social-emotional development when assessing ASD risk.

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10. Siqueiros Sanchez M, Pettersson E, Kennedy DP, Bolte S, Lichtenstein P, D’Onofrio BM, Falck-Ytter T. Visual Disengagement : Genetic Architecture and Relation to Autistic Traits in the General Population. J Autism Dev Disord. 2019.

Visual disengagement has been hypothesized as an endophenotype for autism. In this study we used twin modelling to assess the role of genetics in basic measures of visual disengagement, and tested their putative association to autistic traits in the general population. We used the Gap Overlap task in a sample of 492 twins. Results showed that most of the covariance among eye movement latencies across conditions was shared and primarily genetic. Further, there were unique genetic contributions to the Gap condition, but not to the Overlap condition-i.e. the one theorized to capture visual disengagement. We found no phenotypic association between autistic traits and disengagement, thus not supporting the hypothesis of visual disengagement as an endophenotype for autistic traits.

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11. Soke GN, Maenner M, Windham G, Moody E, Kaczaniuk J, DiGuiseppi C, Schieve LA. Association Between Breastfeeding Initiation and Duration and Autism Spectrum Disorder in Preschool Children Enrolled in the Study to Explore Early Development. Autism Res. 2019.

Studies report inconsistent findings on the relationship between ASD and breastfeeding. We explored associations between ASD and breastfeeding initiation (yes/no) and duration (months categorized in tertiles) in the Study to Explore Early Development, a community-based case-control study in six sites in the Unites States. We adjusted for various child and mother demographic and pregnancy factors. Breastfeeding initiation was reported in 85.7% of mothers of children with ASD and 90.6% of mothers of controls. After adjustment, we found no significant difference in breastfeeding initiation (adjusted odds-ratio [aOR] : 0.88 and 95% confidence interval (CI) 0.60-1.28). However, mothers of children with ASD were less likely to report duration of breastfeeding in the high (>/=12 months) versus low tertile (<6 months) (aOR and 95% CI : 0.61 [0.45-0.84]) or the middle (6-<12 months) versus low tertile (0.72 : 0.54-0.98). The association of ASD and breastfeeding duration was slightly attenuated when the presence of the broader autism phenotype (BAP) in the mother was accounted for, but still remained for the highest tertile. This association does not appear to be totally explained by maternal BAP. We were unable to distinguish whether the difference in duration was due to difficulties breastfeeding children who later develop ASD, other factors not adjusted in our study, or greater ASD risk resulting from shorter breastfeeding duration. Longitudinal studies that compare reasons why mothers stop breastfeeding between ASD and controls and establish a temporal relation between ASD and breastfeeding are needed. Future studies should also evaluate interactions between ASD risk genes and breastfeeding. Autism Res 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY : In this study, we compared breastfeeding practices between mothers of children with and without autism spectrum disorder (ASD). We found that the percentage of mothers who started breastfeeding was similar between the two groups, but mothers of children with ASD breastfed for a shorter amount of time compared to mothers of children without ASD. Future studies are needed to evaluate the reasons why the duration of breastfeeding was shorter for mothers of children with ASD compared to those without ASD.

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12. Stahmer AC, Vejnoska S, Iadarola S, Straiton D, Segovia FR, Luelmo P, Morgan EH, Lee HS, Javed A, Bronstein B, Hochheimer S, Cho E, Aranbarri A, Mandell D, Hassrick EM, Smith T, Kasari C. Caregiver Voices : Cross-Cultural Input on Improving Access to Autism Services. Journal of racial and ethnic health disparities. 2019.

Decades of research have established that racial ethnic minority, low-income, and/or non-English speaking children with autism spectrum disorder (ASD) are diagnosed later than white children, and their families experience greater difficulty accessing services in the USA. Delayed access to timely diagnosis and early intervention may impact child outcomes and family quality of life. Despite their cognition of these disparities and their significant impact on the lives of those affected, explanations for the barriers experienced by underserved families are elusive, likely due to the complex interaction between structural and family factors. This study used qualitative methods to gather family and provider perspectives of perceived barriers and facilitators to obtaining an ASD diagnosis and accessing ASD-related services for underserved families. Themes from focus groups and interviews with families from three cultural groups (black, Hispanic/Latino, and Korean) and three primary languages (English, Korean, and Spanish) highlight specific barriers related to family, community, and systemic challenges as well as facilitators to accessing care for these populations. Family experiences are expanded upon with viewpoints from the providers who work with them. Recommendations are made for reducing disparities in the existing ASD service system including increasing professional, family, and community education ; increasing culturally responsive care ; improving provider-family partnerships ; and addressing practical challenges to service access.

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