1. Black B. Sleep and autism: an impactful and complex relationship that requires a personalized medicine approach. Sleep. 2021; 44(9).

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2. Cunha BCR, Rodrigues K, Zaine I, da Silva EAN, Viel CC, Pimentel M. Experience Sampling and Programmed Intervention Method and System for Planning, Authoring, and Deploying Mobile Health Interventions: Design and Case Reports. Journal of medical Internet research. 2021; 23(7): e24278.

BACKGROUND: Health professionals initiating mobile health (mHealth) interventions may choose to adapt apps designed for other activities (eg, peer-to-peer communication) or to employ purpose-built apps specialized in the required intervention, or to exploit apps based on methods such as the experience sampling method (ESM). An alternative approach for professionals would be to create their own apps. While ESM-based methods offer important guidance, current systems do not expose their design at a level that promotes replicating, specializing, or extending their contributions. Thus, a twofold solution is required: a method that directs specialists in planning intervention programs themselves, and a model that guides specialists in adopting existing solutions and advises software developers on building new ones. OBJECTIVE: The main objectives of this study are to design the Experience Sampling and Programmed Intervention Method (ESPIM), formulated toward supporting specialists in deploying mHealth interventions, and the ESPIM model, which guides health specialists in adopting existing solutions and advises software developers on how to build new ones. Another goal is to conceive and implement a software platform allowing specialists to be users who actually plan, create, and deploy interventions (ESPIM system). METHODS: We conducted the design and evaluation of the ESPIM method and model alongside a software system comprising integrated web and mobile apps. A participatory design approach with stakeholders included early software prototype, predesign interviews with 12 health specialists, iterative design sustained by the software as an instance of the method’s conceptual model, support to 8 real case studies, and postdesign interviews. RESULTS: The ESPIM comprises (1) a list of requirements for mHealth experience sampling and intervention-based methods and systems, (2) a 4-dimension planning framework, (3) a 7-step-based process, and (4) an ontology-based conceptual model. The ESPIM system encompasses web and mobile apps. Eight long-term case studies, involving professionals in psychology, gerontology, computer science, speech therapy, and occupational therapy, show that the method allowed specialists to be actual users who plan, create, and deploy interventions via the associated system. Specialists’ target users were parents of children diagnosed with autism spectrum disorder, older persons, graduate and undergraduate students, children (age 8-12), and caregivers of older persons. The specialists reported being able to create and conduct their own studies without modifying their original design. A qualitative evaluation of the ontology-based conceptual model showed its compliance to the functional requirements elicited. CONCLUSIONS: The ESPIM method succeeds in supporting specialists in planning, authoring, and deploying mobile-based intervention programs when employed via a software system designed and implemented according to its conceptual model. The ESPIM ontology-based conceptual model exposes the design of systems involving active or passive sampling interventions. Such exposure supports the evaluation, implementation, adaptation, or extension of new or existing systems.

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3. Echavarría-Ramírez LM, Tirapu-Ustárroz J. [Neuropsychological examination in children with intellectual disabilities]. Revista de neurologia. 2021; 73(2): 66-76.

Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in adaptive behaviour that occur during development. It should be noted that this generates a variety of symptomatology, which is why it is considered by neuropsychology as an axis of analysis. In this regard, emphasis will be placed on why neuropsychological screening is necessary in this condition. Such relevance lies, on the one hand, in determining whether the child’s disability is due to alterations in the nervous system or to unfavourable conditions of the environment in which he/she develops. On the other hand, neuropsychological examination provides information on which areas of the brain are responsible for one or the other disability. It also makes it possible to identify the individual particularities of the child’s development, that is, his/her performance profile (strengths and weaknesses), but not necessarily to establish the diagnosis of intellectual disability and, from there, decide on intervention programmes adapted to the characteristics and needs of each case.

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4. Hinkle KA, Lerman DC. Preparing Law Enforcement Officers to Engage Successfully with Individuals with Autism Spectrum Disorder: An Evaluation of a Performance-Based Approach. Journal of autism and developmental disorders. 2021.

Law enforcement officers (LEOs) may use physical force unnecessarily or escalate problem behavior when attempting to gain the compliance of individuals with autism spectrum disorder (ASD) (Copenhaver & Tewksbury in American Journal of Criminal Justice 44:309-333, 2019). Although specialized training may remedy this problem, the relatively small literature on such training programs indicates the need for further research (Railey et al. in Focus on Autism and Other Developmental Disabilities, 2020). This study used simulations with actors to evaluate the outcomes of performance-based instruction on strategies to promote compliance when LEOs respond to calls involving individuals with ASD. Results for three LEOs and 24 police cadets demonstrated the efficacy of behavioral skills training (BST) for teaching LEOs how to interact more effectively with individuals with ASD. Results also suggested that hands-on training should supplement commonly used forms of didactic instruction.

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5. Lee DK, Li SW, Bounni F, Friedman G, Jamali M, Strahs L, Zeliger O, Gabrieli P, Stankovich MA, Demaree J, Williams ZM. Reduced sociability and social agency encoding in adult Shank3-mutant mice are restored through gene re-expression in real time. Nature neuroscience. 2021; 24(9): 1243-55.

Despite a growing understanding of the molecular and developmental basis of autism spectrum disorder (ASD), how the neuronal encoding of social information is disrupted in ASD and whether it contributes to abnormal social behavior remains unclear. Here, we disrupted and then restored expression of the ASD-associated gene Shank3 in adult male mice while tracking the encoding dynamics of neurons in the medial prefrontal cortex (mPFC) over weeks. We find that Shank3 disruption led to a reduction of neurons encoding the experience of other mice and an increase in neurons encoding the animal’s own experience. This shift was associated with a loss of ability by neurons to distinguish other from self and, therefore, the inability to encode social agency. Restoration of Shank3 expression in the mPFC reversed this encoding imbalance and increased sociability over 5-8 weeks. These findings reveal a neuronal-encoding process that is necessary for social behavior and that may be disrupted in ASD.

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6. Lim CS, Kim MJ, Choi JE, Islam MA, Lee YK, Xiong Y, Shim KW, Yang JE, Lee RU, Lee J, Park P, Kwak JH, Seo H, Kim CH, Lee JH, Lee YS, Hwang SK, Lee K, Lee JA, Kaang BK. Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice. Molecular psychiatry. 2021; 26(12): 7538-49.

Heterogeneity in the etiopathology of autism spectrum disorders (ASD) limits the development of generic remedies, requires individualistic and patient-specific research. Recent progress in human-induced pluripotent stem cell (iPSC) technology provides a novel platform for modeling ASDs for studying complex neuronal phenotypes. In this study, we generated telencephalic induced neuronal (iN) cells from iPSCs derived from an ASD patient with a heterozygous point mutation in the DSCAM gene. The mRNA of DSCAM and the density of DSCAM in dendrites were significantly decreased in ASD compared to control iN cells. RNA sequencing analysis revealed that several synaptic function-related genes including NMDA receptor subunits were downregulated in ASD iN cells. Moreover, NMDA receptor (R)-mediated currents were significantly reduced in ASD compared to control iN cells. Normal NMDA-R-mediated current levels were rescued by expressing wild-type DSCAM in ASD iN cells, and reduced currents were observed by truncated DSCAM expression in control iN cells. shRNA-mediated DSCAM knockdown in control iN cells resulted in the downregulation of an NMDA-R subunit, which was rescued by the overexpression of shRNA-resistant DSCAM. Furthermore, DSCAM was co-localized with NMDA-R components in the dendritic spines of iN cells whereas their co-localizations were significantly reduced in ASD iN cells. Levels of phospho-ERK1/2 were significantly lower in ASD iN cells, suggesting a potential mechanism. A neural stem cell-specific Dscam heterozygous knockout mouse model, showing deficits in social interaction and social memory with reduced NMDA-R currents. These data suggest that DSCAM mutation causes pathological symptoms of ASD by dysregulating NMDA-R function.

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7. MacLennan K, O’Brien S, Tavassoli T. In Our Own Words: The Complex Sensory Experiences of Autistic Adults. Journal of autism and developmental disorders. 2021.

Autistic adults commonly experience sensory reactivity differences. Sensory hyperreactivity is frequently researched, whilst hyporeactivity and seeking, and experiences across domains, e.g., vision, are often neglected. Therefore, we aimed to understand more about the sensory experiences of autistic adults. We conducted a mixed-methods study, co-produced with stakeholders; recruiting 49 autistic adults who completed an online survey. Firstly, quantitative results and content analysis enhanced our understanding of sensory input/contexts associated with sensory hyperreactivity, hyporeactivity, and seeking across modalities. Secondly, thematic analysis developed themes relating to ‘Outcomes’, ‘Control’, ‘Tolerance and management’, and ‘The role of other people’, informing a theoretical model of sensory reactivity differences in autistic adults. These findings have implications for support services and improving quality of life for autistic adults.

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8. Selvaratnam RJ, Wallace EM, Wolfe R, Anderson PJ, Davey MA. Association Between Iatrogenic Delivery for Suspected Fetal Growth Restriction and Childhood School Outcomes. Jama. 2021; 326(2): 145-53.

IMPORTANCE: Timely delivery of infants suspected of having fetal growth restriction (FGR) is a balance between preventing stillbirth and minimizing prematurity, particularly because many infants with suspected FGR have normal growth. OBJECTIVE: To explore the association between iatrogenic delivery for suspected FGR and childhood school outcomes. DESIGN, SETTING, AND PARTICIPANTS: A retrospective whole-population cohort study linking perinatal data from births 32 weeks’ or more gestation between January 1, 2003, to December 31, 2013, to developmental and educational test scores at preparatory school, and at school grades 3, 5, and 7 in Victoria, Australia. Follow-up was concluded in 2019. EXPOSURES: Suspicion or nonsuspicion of FGR, presence or absence of iatrogenic delivery (defined as early induction of labor or cesarean delivery prior to labor) for suspected FGR, and presence or absence of small for gestational age (SGA). MAIN OUTCOMES AND MEASURES: The coprimary outcomes were being in the bottom 10th percentile on 2 or more of 5 developmental domains at school entry and being below the national minimum standard on 2 or more of 5 educational domains in grades 3, 5, or 7. RESULTS: In the birth population of 705 937 infants, the mean gestation at birth was 39.1 (SD, 1.5) weeks and the mean birth weight was 3426 (SD, 517) grams. The birth population linked to 181 902 children with developmental results and 425 717 children with educational results. Compared with infants with severe SGA (birth weight <3rd percentile) not suspected of having FGR, infants with severe SGA delivered for suspected FGR were born earlier (mean gestation, 37.9 weeks vs 39.4 weeks). They also had a significantly increased risk of poor developmental outcome at school entry (16.2% vs 12.7%; absolute difference, 3.5% [95% CI, 0.5%-6.5%]); adjusted odds ratio [aOR], 1.36 [95% CI, 1.07-1.74]) and poor educational outcomes in grades 3, 5, and 7 (for example, in grade 7: 13.4% vs 10.5%; absolute difference, 2.9% [95% CI, 0.4%-5.5%]); aOR, 1.33 [95% CI, 1.04-1.70]). There was no significant difference between infants with normal growth (birth weight ≥10th percentile) delivered for suspected FGR and those not suspected of having FGR in developmental outcome (8.6% vs 8.1%; absolute difference, 0.5% [95% CI, -1.1% to 2.0%]); aOR, 1.17 [95% CI, 0.95-1.45]) or educational outcome in grade 3, 5 or 7, despite being born earlier (mean gestation, 38.0 weeks vs 39.1 weeks). CONCLUSIONS AND RELEVANCE: In this exploratory study conducted in Victoria, Australia, iatrogenic delivery of infants with severe SGA due to suspected FGR was associated with poorer school outcomes compared with infants with severe SGA not suspected of having FGR. Iatrogenic delivery of infants with normal growth due to suspected FGR was not associated with poorer school outcomes compared with infants with normal growth not suspected of having FGR.

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9. Sonido MT, Hwang YI, Srasuebkul P, Trollor JN, Arnold SRC. Predictors of the Quality of Life of Informal Carers of Adults on the Autism Spectrum. Journal of autism and developmental disorders. 2021.

Carers of adults on the autism spectrum often experience high levels of stress, worry, and caregiver burden. There are few studies identifying the predictors of carer mental well-being and none have been conducted in Australia. Data from the Autism Cooperative Research Centre for Living with Autism’s Australian Longitudinal Study of Autism in Adulthood was used to test the conceptual model by Sonido et al. (Rev J Autism Dev Disord, 2019, https://doi.org/10.1007/s40489-019-00177-8 ) by (a) identifying the predictors of mental well-being for carers of adults on the spectrum, (b) using model selection to determine which predictors contribute to the model of best fit, and (c) testing for mediating relationships between the predictors. Several predictors were directly associated with carer psychological quality of life, including carer age, care recipient intellectual disability, and carer intolerance of uncertainty. Model selection strongly supported the inclusion of most clusters from the conceptual model. Some mediating relationships were found, such as care recipient depressive behaviours mediating the relationships between caregiver burden and psychological quality of life. Future studies of the conceptual model will improve understanding of the predictors of carer mental well-being and enable tailored interventions to improve the psychological health of carers of adults on the autism spectrum.

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10. Sundaresan A, Penchina B, Cheong S, Grace V, Valero-Cabré A, Martel A. Evaluating deep learning EEG-based mental stress classification in adolescents with autism for breathing entrainment BCI. Brain informatics. 2021; 8(1): 13.

Mental stress is a major individual and societal burden and one of the main contributing factors that lead to pathologies such as depression, anxiety disorders, heart attacks, and strokes. Given that anxiety disorders are one of the most common comorbidities in youth with autism spectrum disorder (ASD), this population is particularly vulnerable to mental stress, severely limiting overall quality of life. To prevent this, early stress quantification with machine learning (ML) and effective anxiety mitigation with non-pharmacological interventions are essential. This study aims to investigate the feasibility of exploiting electroencephalography (EEG) signals for stress assessment by comparing several ML classifiers, namely support vector machine (SVM) and deep learning methods. We trained a total of eleven subject-dependent models-four with conventional brain-computer interface (BCI) methods and seven with deep learning approaches-on the EEG of neurotypical (n=5) and ASD (n=8) participants performing alternating blocks of mental arithmetic stress induction, guided and unguided breathing. Our results show that a multiclass two-layer LSTM RNN deep learning classifier is capable of identifying mental stress from ongoing EEG with an overall accuracy of 93.27%. Our study is the first to successfully apply an LSTM RNN classifier to identify stress states from EEG in both ASD and neurotypical adolescents, and offers promise for an EEG-based BCI for the real-time assessment and mitigation of mental stress through a closed-loop adaptation of respiration entrainment.

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11. van Vliet MJ. Neurobiological developmental disorders – The challenging assessment of the needs of children and adolescents. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2021; 33: A1.

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12. Wilson RD. Letter: Understanding and Supporting Children with Congenital Anomalies and Disabilities. Journal of obstetrics and gynaecology Canada : JOGC = Journal d’obstetrique et gynecologie du Canada : JOGC. 2021; 43(7): 812-3.

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13. Yechiam E, Yom-Tov E. Unique Internet Search Strategies of Individuals With Self-Stated Autism: Quantitative Analysis of Search Engine Users’ Investigative Behaviors. Journal of medical Internet research. 2021; 23(7): e23829.

BACKGROUND: Although autism is often characterized in literature by the presence of repetitive behavior, in structured decision tasks, individuals with autism spectrum disorder (ASD) have been found to examine more options in a given time period than controls. OBJECTIVE: We aimed to examine whether this investigative tendency emerges in information searches conducted via the internet. METHODS: In total, 1746 search engine users stated that they had ASD in 2019. This group’s naturally occurring responses following 1491 unique general queries and 78 image queries were compared to those of all other users of the search engine. The main dependent measure was scrolled distance, which denoted the extent to which additional results were scanned beyond the initial results presented on-screen. Additionally, we examined the number of clicks on search results as an indicator of the degree of search outcome exploitation and assessed whether there was a trade-off between increased search range and the time invested in viewing initial search results. RESULTS: After issuing general queries, individuals with self-stated ASD scanned more results than controls. The scrolled distance in the results page of general queries was 45% larger for the group of individuals with ASD (P<.001; d=0.45). The group of individuals with ASD also made the first scroll faster than the controls (P<.001; d=0.51). The differences in scrolled distance were larger for popular queries. No group differences in scrolled distance emerged for image queries, suggesting that visual load impeded the investigative behavior of individuals with ASD. No differences emerged in the number of clicks on search results. CONCLUSIONS: Individuals who self-stated that they had ASD scrutinized more general search results and fewer image search results than the controls. Thus, our results at least partially support the notion that individuals with ASD exhibit investigative behaviors and suggest that textual searches are an important context for expressing such tendencies.

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