Pubmed du 03/03/20

mardi 3 mars 2020

1. Bottini S, Wiseman K, Gillis J. Burnout in providers serving individuals with ASD : The impact of the workplace. Res Dev Disabil ;2020 (Feb 28) ;100:103616.

Increased levels of burnout have been demonstrated for providers serving individuals with Autism Spectrum Disorder (ASD). Given higher levels of burnout are linked with a number of negative physical and psychological outcomes, it is important to understand predictors of burnout to inform prevention and intervention strategies. Leiter and Maslach (1999) provide a framework for conceptualizing burnout within an organizational context according to six areas of work-life. The present study examines the relation between the six areas of work-life and burnout in staff providing direct care services to individuals with ASD. A total of 149 providers completed an online survey consisting of the Maslach Burnout Inventory (MBI ; Maslach, Jackson, & Leiter, 1997), the Areas of Work-life Survey (AWS ; Leiter & Maslach, 1999), and additional questions about training and supervision. The areas of workload, reward, fairness, and values emerged as the best predictors of burnout. While workload, fairness, and values predicted emotional exhaustion, values and reward predicted personal accomplishment, and values alone predicted depersonalization. Lower levels of training satisfaction and frequency of supervision were related to burnout. Findings provide direction regarding which aspects of the workplace may be most relevant for this workforce and how these areas may be targeted for change.

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2. Cassidy SA, Bradley L, Cogger-Ward H, Shaw R, Bowen E, Glod M, Baron-Cohen S, Rodgers J. Measurement Properties of the Suicidal Behaviour Questionnaire-Revised in Autistic Adults. J Autism Dev Disord ;2020 (Mar 3)

We explored the appropriateness and measurement properties of a suicidality assessment tool (SBQ-R) developed for the general population, in autistic adults-a high risk group for suicide. 188 autistic adults and 183 general population adults completed the tool online, and a sub-sample (n = 15) were interviewed while completing the tool. Multi-group factorial invariance analysis of the online survey data found evidence for metric invariance of the SBQ-R, particularly for items three and four. Cognitive interviews revealed that autistic adults did not interpret these items as intended by the tool designers. Results suggest autistic adults interpret key questions regarding suicide risk differently to the general population. Future research must adapt tools to better capture suicidality in autistic adults.

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3. Cohen IL, Tsiouris JA. Triggers of Aggressive Behaviors in Intellectually Disabled Adults and Their Association with Autism, Medical Conditions, Psychiatric Disorders, Age and Sex : A Large-Scale Study. J Autism Dev Disord ;2020 (Mar 3)

Aggressive behaviors in those with intellectual disability (ID) and autism (ASD) have been linked to a variety of factors including ID level, age, sex, psychiatric disorders, and medical conditions but these factors have not been studied, in large samples, in terms of how they affect the stimuli that trigger aggression. In this survey of 2243 adults, four triggers of aggression associated with frustration, discomfort, change in the physical/social environment, and defensive reactions were analyzed for their relation to ID level, ASD, age, sex, number of psychiatric diagnoses, sleeping problems, seizures, visual impairment, ear infections and gastrointestinal problems. All four triggers were associated with increasing number of psychiatric disorders, with frustration, discomfort, and change intolerance commonly linked to sleeping problems and ASD. Implications for assessment and intervention are discussed.

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4. Dai YG, Porto KS, Skapek M, Barton ML, Dumont-Mathieu T, Fein DA, Robins DL. Comparison of the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) Positive Predictive Value by Race. J Autism Dev Disord ;2020 (Mar 3)

The Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F) is the most widely used screener for ASD. Despite the comparable rate of ASD in Black and White children, the M-CHAT-R/F was validated on a primarily White, Non-Hispanic sample. Few studies have assessed whether the screener performs adequately with racial minorities. This study compared the M-CHAT-R/F Positive Predictive Value (PPV), for ASD, and for any developmental condition, in Black and White children. We also examined M-CHAT-R/F item-level PPV by race. The PPVs for ASD and other developmental disorders were similar in both racial groups for total score and individual items. Therefore, our findings support the use of the M-CHAT-R/F with Black and White children.

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5. Karunakaran S, Menon RN, Nair SS, Santhakumar S, Nair M, Sundaram S. Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype : Two Sides of the Same Coin !. Clin EEG Neurosci ;2020 (Mar 2):1550059420909673.

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was CDKL5 mutation (3), MECP2 mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.

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6. Lee GT, Qu K, Hu X, Jin N, Huang J. Arranging play activities with missing items to increase object-substitution symbolic play in children with autism spectrum disorder. Disabil Rehabil ;2020 (Mar 3):1-13.

Purpose : Many children with autism spectrum disorder do not have symbolic play skills. The purpose of this study was to evaluate the effects of a training procedure on the acquisition, maintenance, and generalization of object-substitution symbolic play in children with autism spectrum disorder.Methods : A single-case experimental design (multiple-probe across four behaviors) was used. One girl (5 years) and two boys (4-5 years) participated in this study. The training procedure involved withdrawing necessary items in play activities, supplying multiple substitutes, and providing hierarchical assistive prompts. Each child’s symbolic play responses across baseline, intervention, and follow-up conditions were recorded and graphed. Data analysis involved visual inspection of graphs.Results : The results indicated that the procedure effectively increased and maintained object-substitution symbolic play. Generalization to untaught play activities occurred in all children, and symbolic play increased in the free play setting for one child.Conclusions : Arranging play activities with missing items increased opportunities for children to engage in symbolic play. The training procedure can be used in clinical and educational settings as an initial step to establish and improve complex play behavior in children with autism spectrum disorder who lack such skills.IMPLICATIONS FOR REHABILITATIONMany children with autism spectrum disorder have inappropriate play behaviors and do not demonstrate symbolic play.Arranging play activities with missing items and systematic assistive prompts effectively increased object-substitution symbolic play.Generalization of symbolic play to untrained play activities occurred after the intervention.

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7. Lehmann K, Rosato M, McKenna H, Leavey G. Autism trait prevalence in treatment seeking adolescents and adults attending specialist gender services. Eur Psychiatry ;2020 (Mar 2) ;63(1):e23.

BACKGROUND. : To assess the prevalence of autism traits in individuals accessing gender affirming treatments, we conducted a cross-sectional survey in the regional specialist gender services in Northern Ireland. METHODS. : One hundred and twenty-three individuals (38 adolescents and 69 adults) currently attending or who previously attended specialist gender services in Northern Ireland were recruited. Fifty-six individuals assigned male at birth (AMAB) and 66 individuals assigned female at birth (AFAB) took part in the study. Main outcome measures : Autism Quotient (AQ), Cambridge Behavior Scale (EQ), and RAADS-14. RESULTS. : Autism trait prevalence rates of 19.5% (AQ) ; 25.4% (RAADS-14) ; and 35.8% (poor empathy traits). A combined measure comprising all three provided a prevalence of 17.2%. There were no mean differences in the scores between AMAB (assigned male at birth) individuals and AFAB (assigned female at birth) individuals. CONCLUSIONS. : Autism traits present additional challenges during the assessment and treatment of individuals with gender dysphoria. Autism screening tools can aid in the identification of individual with additional needs.

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8. Luo Y, Pang L, Guo C, Zhang L, Wang Y, Zheng X. Urbanicity and autism of children in China. Psychiatry Res ;2020 (Feb 18) ;286:112867.

OBJECTIVES : Increased risk of autism with the increment of urbanization has been documented in developed countries. However, very few studies in developing countries focused on this topic. By using Chinese nationally representative large dataset, we investigated the association between urbanicity and autism among children aged 0-17 years in China. Also, we analyzed whether there existed a sexually dimorphic effect on this association. METHODS : Data from the Second National Sample Survey on Disability (SNSSD) was used in this study, and 616,940 children was selected for analysis. Autism was measured by experienced psychiatrists according to The International Statistical Classification of Diseases and Related Health Problems 10th Revision Symptom Checklist for Mental Disorders. Logistic regression models allowing for multiple demographic and socioeconomic covariates were used to evaluate the association between the level of urbanization and autism in children. RESULTS : Compared with children in low level of urbanization areas, those in high urbanization level areas was 2.12 (95%CI : 1.28, 3.49) times more likely to develop autism, and 1.85 (95%CI : 1.21, 2.84) times for those in moderate level of urbanization areas. Stratified analyses found that all observed associations were only in male children, not in female children. CONCLUSIONS : Our findings suggested that higher level of urbanicity was associated with higher risk of autism in children. This association was only present in male children, not in female children.

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9. Oliphant RYK, Smith EM, Grahame V. What is the Prevalence of Self-harming and Suicidal Behaviour in Under 18s with ASD, With or Without an Intellectual Disability ?. J Autism Dev Disord ;2020 (Mar 3)

A systematic literature review was undertaken to ascertain the prevalence of self-harm and suicidal behaviour in children and young people under 18 years old with a diagnosis of autism spectrum disorder (ASD), with or without an intellectual disability. There was variation in the reported prevalence rates but results suggested that rates of both self-harm and suicidal behaviour may be elevated in ASD compared to the general population. This is in keeping with literature relating to autistic adults but in contrast to conclusions of a previous systematic review. This review highlights the need for further research to explore the experience of self-harm and suicidal behaviour in autistic children and young people.

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10. Pecorelli A, Cervellati C, Cordone V, Hayek J, Valacchi G. Compromised immune/inflammatory responses in Rett syndrome. Free Radic Biol Med ;2020 (Feb 28)

Mutations in X-linked gene methyl-CpG-binding protein 2 (MECP2), a key transcriptional regulator, account for most cases of Rett syndrome (RTT), a devastating neurodevelopmental disorder with no known cure. Despite extensive research to elucidate MeCP2 functions, the mechanisms underlying RTT pathophysiology are still unclear. In addition to a variety of neurological symptoms, RTT also includes a plethora of additional phenotypical features including altered lipid metabolism, redox imbalance, immune dysfunction and mitochondrial abnormalities that explain its multisystemic nature. Here, we provide an overview of the current knowledge on the potential role of dysregulated inflammatory and immune responses in RTT. The findings show that abnormalities of humoral and cell-mediated immunity together with chronic low-grade inflammation in multiple organs represent not only clinical manifestations of RTT but rather can contribute to its development and deteriorating course. A future research challenge could be to target therapeutically immune dysfunction as a novel means for RTT management.

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11. Pelton MK, Crawford H, Robertson AE, Rodgers J, Baron-Cohen S, Cassidy S. Understanding Suicide Risk in Autistic Adults : Comparing the Interpersonal Theory of Suicide in Autistic and Non-autistic Samples. J Autism Dev Disord ;2020 (Mar 3)

This study explored whether the Interpersonal Theory of suicide informs our understanding of high rates of suicidality in autistic adults. Autistic and non-autistic adults (n = 695, mean age 41.7 years, 58% female) completed an online survey of self-reported thwarted belonging, perceived burden, autistic traits, suicidal capability, trauma, and lifetime suicidality. Autistic people reported stronger feelings of perceived burden, thwarted belonging and more lifetime trauma than non-autistic people. The hypothesised interaction between burdensomeness and thwarted belonging were observed in the non-autistic group but not in the autistic group. In both groups autistic traits influenced suicidality through burdensomeness/thwarted belonging. Promoting self-worth and social inclusion are important for suicide prevention and future research should explore how these are experienced and expressed by autistic people.

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12. Pickard H, Hirsch C, Simonoff E, Happe F. Exploring the cognitive, emotional and sensory correlates of social anxiety in autistic and neurotypical adolescents. J Child Psychol Psychiatry ;2020 (Mar 1)

BACKGROUND : Social anxiety is common in autistic adolescents. While emerging evidence indicates the importance of several mechanisms (including intolerance of uncertainty (IU), alexithymia and sensory processing) for maintaining anxiety, limited research has explored how these factors are associated with social anxiety in autistic adolescents. METHODS : We investigated whether IU, emotional and sensory processing are related to social anxiety in autistic and neurotypical adolescents, gathering experimental and questionnaire data from 61 autistic and 62 neurotypical 11- to 17-year-olds recruited to have similarly high levels of anxiety. RESULTS : In autistic and neurotypical adolescents matched for social anxiety, similar significant associations were observed between social anxiety and IU, alexithymia, maladaptive emotion regulation, sensory hypersensitivity and interoceptive sensibility. Taking a dimensional approach, we found that child- and parent-reported IU, alexithymia and sensory hypersensitivity mediated the relationship between autistic traits and social anxiety symptoms in the combined group of adolescents. CONCLUSIONS : Our findings indicate that similar correlates of social anxiety are evident in autistic and neurotypical youths experiencing social anxiety and further our understanding of mechanisms that may contribute towards social anxiety in both groups.

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13. Pino MC, Masedu F, Vagnetti R, Attanasio M, Di Giovanni C, Valenti M, Mazza M. Validity of Social Cognition Measures in the Clinical Services for Autism Spectrum Disorder. Front Psychol ;2020 ;11:4.

The current study evaluated three social cognition (SC) tests for their clinical utility in aiding autism diagnosis. To do so, we compared the performance of 86 children with autism spectrum disorder (ASD) and 68 typically developing (TD) children, all aged from 4 to 10 years old, on three SC tasks [the Social Information Processing Interview (SIPI), the Comic Strip Task (CST), and the children’s version of the Eyes Task] and calculated threshold scores that best differentiated the two groups. While difficulties in these abilities appear to represent the "central core" of ASD, services have largely ignored SC tests when supporting autism diagnoses. Therefore, this study attempted to validate and evaluate the diagnostic potential of these three tasks for children with ASD. To investigate the accuracy of these SC tests, we used the receiver operating characteristic (ROC) curve. As expected, the ASD group performed worse than the TD group on the SIPI and CST, but contrary to our prediction, the groups did not significantly differ on the Eyes Task. Specifically, the overall area under the curve (AUC) for the SIPI was 0.87, with a sensitivity of 73.5% and a specificity of 83.9% at the best cutoff point (score range 0-36 ; best cutoff = 31). The overall AUC for the CST was 0.75, with a sensitivity of 71.1% and a specificity of 77.0% at the best cutoff point (score range 0-15 ; best cutoff = 11). The overall AUC for the Eyes Task was 0.51, with a sensitivity of 50.3% and a specificity of 40.2% at the best cutoff point (score range 0-54 ; best cutoff = 45). In conclusion, the results showed that the SIPI test has good predictive power for classifying children with ASD. It should provide substantial supplementary clinical information and help to consolidate diagnostic procedures based on standard tools. Moreover, the results of the study have substantial implications for clinical practice : the better the knowledge of SC functioning in children with ASD, the more effective the intervention program for rehabilitation.

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14. Reisinger DL, Shaffer RC, Horn PS, Hong MP, Pedapati EV, Dominick KC, Erickson CA. Atypical Social Attention and Emotional Face Processing in Autism Spectrum Disorder : Insights From Face Scanning and Pupillometry. Front Integr Neurosci ;2019 ;13:76.

Social attention deficits are a hallmark characteristic within autism spectrum disorder (ASD) and have been hypothesized to have cascading effects on emotion recognition. Eye-tracking methodology has emerged as a potentially reliable, feasible, and sensitive biomarker for examining core phenotypic features of ASD ; however, these findings are mixed with regards to measuring treatment change in clinical trials. The present study aimed to assess the utility of an eye-tracking paradigm to discriminate between clinical groups in social attention and emotion recognition through face scanning and pupillometry. The present study also assessed the reliability of this paradigm within the ASD sample to further our understanding of the utility of eye-tracking for future clinical trials. Participants included 42 individuals with ASD, 29 developmental disability (DD) controls, and 62 typically developing (TD) controls between 3 and 25 years of age. An emotional faces eye-tracking paradigm was administered to all participants, with the ASD group completing the paradigm a second time approximately 2 months later. Participants’ average proportion of looking and number of fixations to specific areas of interest (AOI) were examined along with changes in pupil reactivity while viewing different emotional faces. Results suggest atypical face-scanning through a reduced proportion of looking and the number of fixations toward the eyes in the ASD group regardless of the emotion that was presented. Further, pupillometry measures were able to detect increases in pupil dilation to happy faces in the ASD group. Lastly, test-retest reliability coefficients varied between the poor and excellent range based on the mechanism assessed, with the proportion of looking demonstrating the highest reliability coefficients. These findings build on the promise of eye-tracking as a feasible and reliable biomarker for identifying social attention and emotion recognition deficits in ASD. Detecting differences in emotion recognition explicitly through facial scanning was not as clear. Specific mechanisms within the eye-tracking paradigm may be viable options for assessing treatment-specific outcomes.

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15. Rosen CL. Supporting American Academy of Neurology’s new clinical practice guideline on evaluation and management of insomnia in children with autism. J Clin Sleep Med ;2020 (Mar 3)

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16. Schwartz AE, Kramer JM, Rogers ES, McDonald KE, Cohn ES. Stakeholder-driven approach to developing a peer-mentoring intervention for young adults with intellectual/developmental disabilities and co-occurring mental health conditions. J Appl Res Intellect Disabil ;2020 (Mar 2)

BACKGROUND : Young adults with intellectual/developmental disabilities and co-occurring mental health conditions (IDD-MH) experience significant mental health disparities. Barriers to services include transportation and stigma associated with services. Peer mentoring (PM) may be one solution to these barriers. METHODS : We conducted exploratory research to develop a PM intervention for young adults with IDD-MH by partnering with 3 young adults with IDD-MH and a seven-member advisory board. In addition, we conducted focus groups with mental health clinicians (n = 10), peer providers (n = 9), and transition specialists (n = 20) to identify the desired PM outcomes and features and content that may facilitate these outcomes. RESULTS : Prioritized outcome : identifying and utilizing leisure activities as coping strategies. PM features : mentors should use relationship- and outcome-driven actions to operationalize a mentee-centred approach. Features and content considerations : safety, mentor matching, degree of structure, mentor training and support, and collaboration with mentees’ support teams. DISCUSSION : Findings are aligned with previous research on PM.

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17. Webb SJ, Shic F, Murias M, Sugar CA, Naples AJ, Barney E, Borland H, Hellemann G, Johnson S, Kim M, Levin AR, Sabatos-DeVito M, Santhosh M, Senturk D, Dziura J, Bernier RA, Chawarska K, Dawson G, Faja S, Jeste S, McPartland J. Biomarker Acquisition and Quality Control for Multi-Site Studies : The Autism Biomarkers Consortium for Clinical Trials. Front Integr Neurosci ;2019 ;13:71.

The objective of the Autism Biomarkers Consortium for Clinical Trials (ABC-CT) is to evaluate a set of lab-based behavioral video tracking (VT), electroencephalography (EEG), and eye tracking (ET) measures for use in clinical trials with children with autism spectrum disorder (ASD). Within the larger organizational structure of the ABC-CT, the Data Acquisition and Analytic Core (DAAC) oversees the standardization of VT, EEG, and ET data acquisition, data processing, and data analysis. This includes designing and documenting data acquisition and analytic protocols and manuals ; facilitating site training in acquisition ; data acquisition quality control (QC) ; derivation and validation of dependent variables (DVs) ; and analytic deliverables including preparation of data for submission to the National Database for Autism Research (NDAR). To oversee consistent application of scientific standards and methodological rigor for data acquisition, processing, and analytics, we developed standard operating procedures that reflect the logistical needs of multi-site research, and the need for well-articulated, transparent processes that can be implemented in future clinical trials. This report details the methodology of the ABC-CT related to acquisition and QC in our Feasibility and Main Study phases. Based on our acquisition metrics from a preplanned interim analysis, we report high levels of acquisition success utilizing VT, EEG, and ET experiments in a relatively large sample of children with ASD and typical development (TD), with data acquired across multiple sites and use of a manualized training and acquisition protocol.

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18. Williams Buckley A, Hirtz D, Oskoui M, Armstrong MJ, Batra A, Bridgemohan C, Coury D, Dawson G, Donley D, Findling RL, Gaughan T, Gloss D, Gronseth G, Kessler R, Merillat S, Michelson D, Owens J, Pringsheim T, Sikich L, Stahmer A, Thurm A, Tuchman R, Warren Z, Wetherby A, Wiznitzer M, Ashwal S. Practice guideline : Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder : Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. Neurology ;2020 (Mar 3) ;94(9):392-404.

OBJECTIVE : To review pharmacologic and nonpharmacologic strategies for treating sleep disturbances in children and adolescents with autism spectrum disorder (ASD) and to develop recommendations for addressing sleep disturbance in this population. METHODS : The guideline panel followed the American Academy of Neurology 2011 guideline development process, as amended. The systematic review included studies through December 2017. Recommendations were based on evidence, related evidence, principles of care, and inferences. MAJOR RECOMMENDATIONS LEVEL B : For children and adolescents with ASD and sleep disturbance, clinicians should assess for medications and coexisting conditions that could contribute to the sleep disturbance and should address identified issues. Clinicians should counsel parents regarding strategies for improved sleep habits with behavioral strategies as a first-line treatment approach for sleep disturbance either alone or in combination with pharmacologic or nutraceutical approaches. Clinicians should offer melatonin if behavioral strategies have not been helpful and contributing coexisting conditions and use of concomitant medications have been addressed, starting with a low dose. Clinicians should recommend using pharmaceutical-grade melatonin if available. Clinicians should counsel children, adolescents, and parents regarding potential adverse effects of melatonin use and the lack of long-term safety data. Clinicians should counsel that there is currently no evidence to support the routine use of weighted blankets or specialized mattress technology for improving disrupted sleep. If asked about weighted blankets, clinicians should counsel that the trial reported no serious adverse events with blanket use and that blankets could be a reasonable nonpharmacologic approach for some individuals.

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19. Yusuf A, Peltekova I, Savion-Lemieux T, Frei J, Bruno R, Joober R, Howe J, Scherer SW, Elsabbagh M. Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning. Res Dev Disabil ;2020 (Feb 28) ;100:103605.

BACKGROUND : The clinical integration of chromosomal microarray testing promises improvements in diagnostic yields in Autism Spectrum Disorder (ASD). While the impact on clinical management is promising for some families, the utility perceived by families, including the majority for whom results are negative, is unclear. With next generation genomic sequencing technologies poised for integration, along with promising ASD biomarkers being developed, there is a need to understand the extent to which genomic and other biological testing would have utility for the target recipients of these tests and their families. The purpose of the present cross-sectional study was to examine the predictors of perceived utility of biological testing among parents of a child with ASD. METHODS : The Perceived Utility of Biotesting (PUB) Questionnaire was developed based on literature review and integrating family review. Following their child’s diagnosis, families participating in an ongoing prospective study completed the PUB questionnaire along with self-reported measures of parent stress, child and family functioning, and family-centered care prior to undergoing genetic testing for both clinical and research purposes. RESULTS : Based on n=85 families, psychometric properties of the Perceived Utility of Biotesting questionnaire suggest a reliable and valid instrument. A stepwise regression analysis reveals that lower levels of child emotional and behavioural functioning and higher levels of family functioning correlated with higher perceived utility for biological testing. LIMITATIONS : A main limitation in the study is the participation rate of 50 %, thus the possibility of self-selection bias cannot be ruled out. We also chose to assess perceived utility among parents rather than the individuals with ASD themselves : modifying the questionnaire to capture perceived utility from autistic individuals across the lifespan would prove essential in future studies. Finally, ongoing validation of the PUB by assessing the PUB’s discriminant and convergent validity is still needed. CONCLUSIONS : We conclude that the utility of biological testing perceived by families whose child is undergoing genetic testing around ASD diagnosis depends on their unique child and family characteristics. This signifies that engaging families in biomarker discovery for improving the impact of research and care requires systematic input from a representative sample of families.

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20. Zhang W, Ma L, Yang M, Shao Q, Xu J, Lu Z, Zhao Z, Chen R, Chai Y, Chen JF. Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes. Genes Dev ;2020 (Feb 27)

Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders. However, the mechanism underlying this dysregulation, particularly in human cells, remains poorly understood. Mutations in the small GTPase gene RAB39b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), and intellectual disability. The in vivo roles of RAB39b in the brain remain unknown. We generated Rab39b knockout (KO) mice and found that they exhibited cortical neurogenesis impairment, macrocephaly, and hallmark ASD behaviors, which resembled patient phenotypes. We also produced mutant human cerebral organoids that were substantially enlarged due to the overproliferation and impaired differentiation of neural progenitor cells (NPCs), which resemble neurodevelopmental deficits in KO mice. Mechanistic studies reveal that RAB39b interacts with PI3K components and its deletion promotes PI3K-AKT-mTOR signaling in NPCs of mouse cortex and cerebral organoids. The mTOR activity is robustly enhanced in mutant outer radial glia cells (oRGs), a subtype of NPCs barely detectable in rodents but abundant in human brains. Inhibition of AKT signaling rescued enlarged organoid sizes and NPC overproliferation caused by RAB39b mutations. Therefore, RAB39b mutation promotes PI3K-AKT-mTOR activity and alters cortical neurogenesis, leading to macrocephaly and autistic-like behaviors. Our studies provide new insights into neurodevelopmental dysregulation and common pathways associated with ASD across species.

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