1. Orji CS, Sharkey L. {{Self-Injurious Behaviours in Children and Adolescents with Intellectual Disability and Autism Spectrum Disorder}}. {Irish medical journal}. 2020; 113(4): 63.
2. Mansfield P, Constantino JN, Baldridge D. {{MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism}}. {Am J Med Genet B Neuropsychiatr Genet}. 2020.
Variations in MYT1L, a gene encoding a transcription factor expressed in the brain, have been associated with autism, intellectual disability, and schizophrenia. Here we provide an updated review of published reports of neuropsychiatric correlates of loss of function and duplication of MYT1L. Of 27 duplications all were partial; 33% were associated exclusively with schizophrenia, and the chromosomal locations of schizophrenia-associated duplications exhibited a distinct difference in pattern-of-location from those associated with autism and/or intellectual disability. Of 51 published heterozygous loss of function variants, all but one were associated with intellectual disability, autism, or both, and one resulted in no neuropsychiatric diagnosis. There were no reports of schizophrenia associated with loss of function variants of MYT1L (Fisher’s exact p < .00001, for contrast with all reported duplications). Although the precise function of the various mutations remains unspecified, these data collectively establish the candidacy of MYT1L as a reciprocal mutation, in which schizophrenia may be engendered by partial duplications, typically involving the 3' end of the gene, while developmental disability-notably autism-is associated with both loss of function and partial duplication. Future research on the specific effects of contrasting mutations in MYT1L may provide insight into the causal origins of autism and schizophrenia. Lien vers le texte intégral (Open Access ou abonnement)
3. Fellowes S. {{The Importance of Getting Kanner’s Account Right in Debates over First Descriptions of Autism}}. {J Autism Dev Disord}. 2020.
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4. Hill J, Ziviani J, Driscoll C, Teoh AL, Chua JM, Cawdell-Smith J. {{Canine Assisted Occupational Therapy for Children on the Autism Spectrum: A Pilot Randomised Control Trial}}. {J Autism Dev Disord}. 2020.
Children on the autism spectrum frequently display difficulties engaging with people and with functional tasks. A pilot, randomised control trial was completed to explore the impact of canine assisted occupational therapy on the on-task behaviours and goal attainment of autistic children when compared to occupational therapy sessions as usual. Twenty-two children between the ages of 4, and 6 years and 11 months, were randomly placed in either the treatment group (n-11) or waitlist control group (n = 11). Results showed that although there was a positive trend for on-task behaviour and goal attainment within the treatment group, results were not statistically significant. These results support the need for further research in the area of canine assisted occupational therapy for autistic children.
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5. Simoes M, Mouga S, Pereira AC, de Carvalho P, Oliveira G, Castelo-Branco M. {{Virtual Reality Immersion Rescales Regulation of Interpersonal Distance in Controls but not in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2020.
Interpersonal distance (IPD) is a simple social regulation metric which is altered in autism. We performed a stop-distance paradigm to evaluate IPD regulation in autism spectrum disorder (ASD) and control groups in a real versus a virtual environment mimicking in detail the real one. We found a bimodal pattern of IPDs only in ASD. Both groups showed high IPD correlations between real and virtual environments, but the significantly larger slope in the control group suggests rescaling, which was absent in ASD. We argue that loss of nuances like non-verbal communication, such as perception of subtle body gestures in the virtual environment, lead to changed regulation of IPD in controls, whilst ASD participants show similar deficits in perceiving such subtle cues in both environments.
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6. Crane L, Hearst C, Ashworth M, Davies J, Hill EL. {{Supporting Newly Identified or Diagnosed Autistic Adults: An Initial Evaluation of an Autistic-Led Programme}}. {J Autism Dev Disord}. 2020.
Sixteen adults (diagnosed or self-identified as autistic) participated in one of two iterations of a ten-week autistic-led programme, aimed at helping autistic adults learn more about autism within a peer group context. Motivations for taking part in the programme included a desire for: (1) exploration of autism; (2) empowerment; and (3) the development of practical strategies and coping mechanisms. Interviews were conducted upon completion of the programme and again 6 months later. Using thematic analysis, three themes were identified: (1) appreciation of the autistic-led nature of the programme; (2) unity in diversity; and (3) developing a positive, practical outlook on autism. These promising initial results highlight the value of autistic-led peer support for those recently diagnosed/identified as autistic.
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7. Shepherd D, Landon J, Goedeke S, Meads J. {{The Cold Shoulder or a Shoulder to Cry on? Mechanisms of Formal and Informal Social Support in the ASD Parenting Context}}. {J Autism Dev Disord}. 2020.
The underlying mechanisms by which social support exerts its (typically) positive effects on parental wellbeing are still being investigated in the autism spectrum disorder (ASD) context. Parents (n = 674) of a child with ASD responded to questions probing parenting stress, parent psychological health, their child’s ASD symptoms, and the types of social supports they were currently utilising. Hierarchical multiple linear regression analyses examined whether social support moderated or mediated (or neither) the relationships between: (a) parent-rated child ASD symptoms and parenting stress, and (b) parenting stress and parent psychological health. The main findings were that none of the mediating models reached statistical significance, while 7/20 moderation analyses were significant, though significance was dependent upon how social support was operationalised.
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8. Hanrahan R, Smith E, Johnson H, Constantin A, Brosnan M. {{A Pilot Randomised Control Trial of Digitally-Mediated Social Stories for Children on the Autism Spectrum}}. {J Autism Dev Disord}. 2020.
Social stories is a widely used intervention for children on the autism spectrum, particularly within an educational context. To date, systematic reviews and meta analyses of the research evaluating social stories has produced mixed results, often due to a lack of methodological rigour and variability in the development and delivery of the social stories. To address the gap in methodological rigour, a pilot Randomised Control Trial (RCT) was conducted, incorporating a social stories intervention group (n = 9 children on the autism spectrum) and an attentional control group who received a poem (n = 6 children on the autism spectrum) using a digital platform to address variability. Digitally-mediated social stories were found to be effective in producing beneficial changes in behaviour outcomes, which were sustained at a six-week follow up.
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9. Anderson KA, Hemmeter J, Rast JE, Roux AM, Shattuck PT. {{Trends in Supplemental Security Income Payments to Adults With Autism}}. {Psychiatr Serv}. 2020: appips201900265.
OBJECTIVE: This study used Social Security Administration program data to identify population-level trends in Supplemental Security Income (SSI) program participation and payments to adult recipients with autism spectrum disorder (ASD) relative to recipients with intellectual disability and other mental disorders. METHODS: The authors examined SSI program data from 2005 to 2015. Variables included caseload size, number of new adult awardees per year, total annual SSI payments per disability group, and average annual SSI payment per recipient. RESULTS: Adults with ASD represented a growing share of the total first-time SSI awards given to adults with mental disorders, with percentages increasing from 1.3% in 2005 to 5.0% in 2015. In 2015, 158,105 adults with ASD received SSI benefits, a 326.8% increase since 2005. Federal SSI payments to adults with ASD increased by 383.2% during the same period (totaling roughly $1.0 billion in 2015). The annual average payment for adults with ASD was $6,527.40 in 2015. CONCLUSIONS: The purpose of the SSI program is to reduce the extent of poverty by providing monthly payments to eligible individuals with disabilities. The authors found that a large and growing number of adults with autism receive SSI benefits. This finding underscores the importance of future research related to the economic security of adults on the autism spectrum.
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10. Gaigg SB, Flaxman PE, McLaven G, Shah R, Bowler DM, Meyer B, Roestorf A, Haenschel C, Rodgers J, South M. {{Self-guided mindfulness and cognitive behavioural practices reduce anxiety in autistic adults: A pilot 8-month waitlist-controlled trial of widely available online tools}}. {Autism}. 2020: 1362361320909184.
LAY ABSTRACT: Anxiety in autism is an important target for psychological therapies because it is very common and because it significantly impacts upon quality of life and well-being. Growing evidence suggests that cognitive behaviour therapies and mindfulness-based therapies can help autistic individuals learn to manage feelings of anxiety but access to such therapies remains problematic. In the current pilot study, we examined whether existing online cognitive behaviour therapy and mindfulness-based therapy self-help tools can help reduce anxiety in autistic adults. Specifically, 35 autistic adults were asked to try either an existing online cognitive behaviour therapy (n = 16) or mindfulness-based therapy (n = 19) programme while a further 19 autistic adults served as a waitlist comparison group. A first important finding was that 23 of the 35 (66%) participants who tried the online tools completed them, suggesting that such tools are, in principle, acceptable to many autistic adults. In addition, adults in the cognitive behaviour therapy and mindfulness-based therapy conditions reported significant decreases in anxiety over 3 and to some extent also 6 months that were less apparent in the waitlist group of participants. On broader measures of mental health and well-being, the benefits of the online tools were less apparent. Overall, the results suggest that online self-help cognitive behaviour therapy and mindfulness-based therapy tools should be explored further as a means of providing cost-effective mental health support to at least those autistic individuals who can engage effectively with such online tools.
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11. Kruth KA, Grisolano TM, Ahern CA, Williams AJ. {{SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?}}. {Mol Autism}. 2020; 11(1): 23.
Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers’ attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel NaV1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism.
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12. Guan J, Lin Y, Ji G. {{Cell Type-Specific Gene Network-Based Analysis Depicts the Heterogeneity of Autism Spectrum Disorder}}. {Frontiers in cellular neuroscience}. 2020; 14: 59.
Autism spectrum disorder (ASD) is a complex neuropsychiatric disorder characterized by substantial heterogeneity. To identify the convergence of disease pathology on common pathways, it is essential to understand the correlations among ASD candidate genes and study shared molecular pathways between them. Investigating functional interactions between ASD candidate genes in different cell types of normal human brains may shed new light on the genetic heterogeneity of ASD. Here we apply cell type-specific gene network-based analysis to analyze human brain nucleus gene expression data and identify cell type-specific ASD-associated gene modules. ASD-associated modules specific to different cell types are relevant to different gene functions, for instance, the astrocytes-specific module is involved in functions of axon and neuron projection guidance, GABAergic interneuron-specific modules are involved in functions of postsynaptic membrane, extracellular matrix structural constituent, and ion transmembrane transporter activity. Our findings can promote the study of cell type heterogeneity of ASD, providing new insights into the pathogenesis of ASD. Our method has been shown to be effective in discovering cell type-specific disease-associated gene expression patterns and can be applied to other complex diseases.
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13. Bangerter A, Chatterjee M, Manyakov NV, Ness S, Lewin D, Skalkin A, Boice M, Goodwin MS, Dawson G, Hendren R, Leventhal B, Shic F, Esbensen A, Pandina G. {{Relationship Between Sleep and Behavior in Autism Spectrum Disorder: Exploring the Impact of Sleep Variability}}. {Front Neurosci}. 2020; 14: 211.
Objective: The relationship between sleep (caregiver-reported and actigraphy-measured) and other caregiver-reported behaviors in children and adults with autism spectrum disorder (ASD) was examined, including the use of machine learning to identify sleep variables important in predicting anxiety in ASD. Methods: Caregivers of ASD (n = 144) and typically developing (TD) (n = 41) participants reported on sleep and other behaviors. ASD participants wore an actigraphy device at nighttime during an 8 or 10-week non-interventional study. Mean and variability of actigraphy measures for ASD participants in the week preceding midpoint and endpoint were calculated and compared with caregiver-reported and clinician-reported symptoms using a mixed effects model. An elastic-net model was developed to examine which sleep measures may drive prediction of anxiety. Results: Prevalence of caregiver-reported sleep difficulties in ASD was approximately 70% and correlated significantly (p < 0.05) with sleep efficiency measured by actigraphy. Mean and variability of actigraphy measures like sleep efficiency and number of awakenings were related significantly (p < 0.05) to ASD symptom severity, hyperactivity and anxiety. In the elastic net model, caregiver-reported sleep, and variability of sleep efficiency and awakenings were amongst the important predictors of anxiety. Conclusion: Caregivers report problems with sleep in the majority of children and adults with ASD. Reported problems and actigraphy measures of sleep, particularly variability, are related to parent reported behaviors. Measuring variability in sleep may prove useful in understanding the relationship between sleep problems and behavior in individuals with ASD. These findings may have implications for both intervention and monitoring outcomes in ASD. Lien vers le texte intégral (Open Access ou abonnement)
14. Hoffmann A, Wang A, Berger N, Cordeiro L, Shaffer R, Tartaglia N, Erickson C, Berry-Kravis E. {{Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment}}. {Brain Sci}. 2020; 10(4).
While it is widely acknowledged that language development is delayed for the majority of individuals with fragile X syndrome (FXS), there has been limited research into how best to assess this area. This study aimed to deepen the understanding of standardized language assessment in FXS by addressing the three following objectives: (1) Examine the feasibility and validity of widely-used, standardized assessments in participants with FXS; (2) describe linguistic and cognitive profiles for a large sample of individuals with FXS; and (3) Compare results obtained from objective testing in clinic to those obtained using caregiver report. Results indicate that previous results indicating strong correlations between cognition and language results hold true across a wide range of ages as well as across multiple assessments, with an exception in very young children. Caregiver report tended to give lower estimates of language ability than what was found using an objectively administered assessment. Appropriate assessments remain difficult to find as a significant percentage of individuals scored at floor when scaled scores were calculated. Further, a sub-group of participants were coded for behavioral response to testing demands, the majority being able to complete a standardized assessment. These results speak to the need for assessments that provide a wider range of items so individuals can both achieve a valid score and demonstrate progress in their attainment of language skills.
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15. Coffman MC, Shaffer RC, Schmitt LM, Dominick KC, Pedapati E, Wang A, Berry-Kravis E, Tartaglia N, Erickson CA. {{Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome}}. {Brain Sci}. 2020; 10(4).
Health-related quality of life (HRQoL) is a multidimensional concept involving physical, psychological, social, and cognitive aspects of life. Individuals with Fragile X syndrome (FXS) experience a life-long disorder that impacts the HRQoL of the affected individual and their family. Thus, HRQoL may be an important outcome measure following intervention. However, it is yet not known whether HRQoL concerns relate to observed impairments in FXS. In the present study, we examined the nature and degree of association between HRQoL and established measures of functioning in FXS using the Parent Report for Children version of the PedsQL 4.0 Generic Core Scales and Cognitive Functioning Scale. We observed significant relationships between HRQoL a nd measures of adaptive behavior, maladaptive behaviors, and social functioning. The present study has implications for treatment outcomes for clinical trials in FXS.
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16. Lallukka T, Mittendorfer-Rutz E, Ervasti J, Alexanderson K, Virtanen M. {{Unemployment Trajectories and the Early Risk of Disability Pension among Young People with and without Autism Spectrum Disorder: A Nationwide Study in Sweden}}. {Int J Environ Res Public Health}. 2020; 17(7).
Depression and anxiety are associated with unemployment and disability pension, while autism spectrum disorder (ASD) is less studied. We aimed to first identify unemployment trajectories among young adults with and without ASD, and then to examine their social determinants. Finally, we used the trajectories as determinants for subsequent disability pension. We used a population-based cohort, including 814 people who were 19-35 years old, not on disability pension, and who had their ASD diagnosis between 2001 and 2009. A matched reference population included 22,013 people with no record of mental disorders. Unemployment follow-up was the inclusion year and four years after. Disability pension follow-up started after the unemployment follow-up and continued through 2013. We identified three distinctive trajectories of unemployment during the follow-up: (1) low, then sharply increasing (9%,) (2) low (reference, 67%), and (3) high then slowly decreasing (24%). People with ASD had higher odds of belonging belong to the trajectory groups 1 (OR 2.53, 95% CI 2.02-3.18) and 3 (OR 3.60, 95% CI 3.08-4.19). However, the mean number of unemployment days was relatively low in all groups. A disability pension was a rare event in the cohort, although memberships to groups 1 and 3 were associated with the risk of a future disability pension. More knowledge is needed about factors facilitating participation in paid employment among people with ASD.
