1. Buckley E, Pellicano E, Remington A. « Knowing That I’m Not Necessarily Alone in My Struggles »: UK Autistic Performing Arts Professionals’ Experiences of a Mentoring Programme. Journal of autism and developmental disorders. 2021.

This research examined whether professional mentoring could have a positive effect on the occupational self-efficacy of autistic performing arts professionals. We compared the outcomes of one group who received mentoring to a waitlist control group. 26 participants took part in this study: 15 autistic mentees and 11 mentors, three of whom were also autistic. The mentoring programme was well received and felt to be beneficial by the participating mentees and mentors, particularly regarding gains in mentees’ occupational self-efficacy. Professional mentoring also addressed several work-oriented challenges identified by autistic performing arts professionals such as feelings of isolation in the industry and need for consultation and advice on both a professional level, and for mentees with autistic mentors, also a neurodivergent one.

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2. Elkhatib Smidt SD, Ghorai A, Taylor SC, Gehringer BN, Dow HC, Langer A, Rawot E, Zhang J, Mitchell JA, Rader DJ, Almasy L, Brodkin ES, Bućan M. The relationship between autism spectrum and sleep-wake traits. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 641-52.

Autistic children and adults often have sleep disturbances, which may affect their and their family’s quality of life. Yet, the relationship between sleep-wake patterns and autism spectrum traits is understudied. Identifying such relationships could lead to future research elucidating common mechanistic underpinnings. Thus, we aimed to determine whether sleep-wake patterns, specifically related to sleep, physical activity, and the daily sleep-wake rhythm (i.e., circadian rhythm), are associated with autism spectrum-related traits. Accelerometer-derived sleep-wake parameters were estimated in individuals with autistic spectrum traits and their family members (N = 267). We evaluated autism spectrum traits using the Social Responsiveness Scale (SRS) to assess the presence and severity of social impairment and the Behavior Rating Inventory of Executive Function (BRIEF) to assess executive function. The linear multivariate regression analysis (using SOLAR-Eclipse) showed that in adults, increased core autism spectrum traits and executive dysfunction were associated with disruption of several sleep-wake parameters, particularly related to the daily sleep-wake rhythm, and that executive dysfunction was associated with disrupted sleep quality and level of physical activity. We highlight the interplay between daytime function and disrupted sleep-wake patterns, specifically related to the daily sleep-wake rhythm, that could guide future research into common mechanisms. LAY SUMMARY: Autistic children and adults often report sleep disturbances. To dissect the relationship between a range of autism spectrum traits and sleep-wake patterns, we assessed social interaction and executive function in participants who also wore actimetry watches on their wrists to assess their sleep-wake patterns. We found that increased impairments in social and executive function occurred with increased sleep-wake disturbances, particularly those related to the circadian rhythm, suggesting that these perturbations/disruptions in the sleep-wake cycle could be connected to autism spectrum traits.

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3. Jutla A, Foss-Feig J, Veenstra-VanderWeele J. Autism spectrum disorder and schizophrenia: An updated conceptual review. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 384-412.

Autism spectrum disorder (ASD) and schizophrenia (SCZ) are separate disorders, with distinct clinical profiles and natural histories. ASD, typically diagnosed in childhood, is characterized by restricted or repetitive interests or behaviors and impaired social communication, and it tends to have a stable course. SCZ, typically diagnosed in adolescence or adulthood, is characterized by hallucinations and delusions, and tends to be associated with declining function. However, youth with ASD are three to six times more likely to develop SCZ than their neurotypical counterparts, and increasingly, research has shown that ASD and SCZ converge at several levels. We conducted a systematic review of studies since 2013 relevant to understanding this convergence, and present here a narrative synthesis of key findings, which we have organized into four broad categories: symptoms and behavior, perception and cognition, biomarkers, and genetic and environmental risk. We then discuss opportunities for future research into the phenomenology and neurobiology of overlap between ASD and SCZ. Understanding this overlap will allow for researchers, and eventually clinicians, to understand the factors that may make a child with ASD vulnerable to developing SCZ. LAY SUMMARY: Autism spectrum disorder and schizophrenia are distinct diagnoses, but people with autism and people with schizophrena share several characteristics. We review recent studies that have examined these areas of overlap, and discuss the kinds of studies we will need to better understand how these disorders are related. Understanding this will be important to help us identify which autistic children are at risk of developing schizophrenia.

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4. Keating CT, Hickman L, Geelhand P, Takahashi T, Leung J, Schuster B, Rybicki A, Girolamo TM, Clin E, Papastamou F, Belenger M, Eigsti IM, Cook JL, Kosaka H, Osu R, Okamoto Y, Sowden S. Global perspectives on autism acceptance, camouflaging behaviours and mental health in autism spectrum disorder: A registered report protocol. PloS one. 2021; 16(12): e0261774.

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5. Li D, Choque Olsson N, Becker M, Arora A, Jiao H, Norgren N, Jonsson U, Bölte S, Tammimies K. Rare variants in the outcome of social skills group training for autism. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 434-46.

Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (β = 9.35; p = 0.036), while no such association was observed for SSGT (β = -2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (β = 8.30, p = 0.0044) or more beneficial (β = -6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD.

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6. Movaghar A, Page D, Brilliant M, Mailick M. Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems. JAMA network open. 2021; 4(12): e2141516.

This cross-sectional study examines the gap between best estimates of prevalence and clinical diagnosis of fragile X syndrome by mining the electronic health records of 3.8 million people in Wisconsin.

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7. Nygren G, Linnsand P, Hermansson J, Dinkler L, Johansson M, Gillberg C. Feeding Problems Including Avoidant Restrictive Food Intake Disorder in Young Children With Autism Spectrum Disorder in a Multiethnic Population. Frontiers in pediatrics. 2021; 9: 780680.

We examined feeding problems, including Avoidant Restrictive Food Intake Disorder (ARFID), in preschool children with Autism Spectrum Disorder (ASD). Data were collected from a prospective longitudinal study of 46 children with ASD in a multiethnic, low resource area in Gothenburg, Sweden. Feeding problems were found in 76% of the children with ASD, and in 28%, the criteria for ARFID were met. The study highlights early onset age, the heterogeneity of feeding problems, and the need for multidisciplinary assessments in ASD as well as in feeding problems, and also the need for further elaboration of feeding disorder classifications in children.

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8. Pozo-Palacios J, Llamos-Paneque A, Rivas C, Onofre E, López-Cáceres A, Villareal J. Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador. Frontiers in psychiatry. 2021; 12: 716311.

Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG trinucleotide expansion in fragile X mental retardation gene 1 (FMR1) leading to gene silencing and the subsequent loss of its product: fragile X mental retardation protein 1 (FMRP). Molecular diagnosis is based on polymerase chain reaction (PCR) screening followed by Southern blotting (SB) or Triplet primer-PCR (TP-PCR) to determine the number of CGG repeats in the FMR1 gene. We performed, for the first time, screening in 247 Ecuadorian male individuals with clinical criteria to discard FXS. Analysis was carried out by the Genetics Service of the Hospital de Especialidades No. 1 de las Fuerzas Armadas (HE-1), Ecuador. The analysis was performed using endpoint PCR for CGG fragment expansion analysis of the FMR1 gene. Twenty-two affected males were identified as potentially carrying the full mutation in FMR1 and thus diagnosed with FXS that is 8.1% of the sample studied. The average age at diagnosis of the positive cases was 13 years of age, with most cases from the geographical area of Pichincha (63.63%). We confirmed the familial nature of the disease in four cases. The range of CGG variation in the population was 12-43 and followed a modal distribution of 27 repeats. Our results were similar to those reported in the literature; however, since it was not possible to differentiate between premutation and mutation cases, we can only establish a molecular screening approach to identify an expanded CGG repeat, which makes it necessary to generate national strategies to optimize molecular tests and establish proper protocols for the diagnosis, management, and follow-up of patients, families, and communities at risk of presenting FXS.

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9. Wiggins LD, Tian LH, Rubenstein E, Schieve L, Daniels J, Pazol K, DiGuiseppi C, Barger B, Moody E, Rosenberg S, Bradley C, Hsu M, Robinson Rosenberg C, Christensen D, Crume T, Pandey J, Levy SE. Features that best define the heterogeneity and homogeneity of autism in preschool-age children: A multisite case-control analysis replicated across two independent samples. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 539-50.

The heterogeneous nature of children with symptoms of autism spectrum disorder (ASD) makes it difficult to identify risk factors and effective treatment options. We sought to identify behavioral and developmental features that best define the heterogeneity and homogeneity in 2-5-year-old children classified with ASD and subthreshold ASD characteristics. Children were enrolled in a multisite case-control study of ASD. Detailed behavioral and developmental data were gathered by maternal telephone interview, parent-administered questionnaires, child cognitive evaluation, and ASD diagnostic measures. Participants with a positive ASD screen score or prior ASD diagnosis were referred for comprehensive evaluation. Children in the ASD group met study criteria based on this evaluation; children who did not meet study criteria were categorized as having subthreshold ASD characteristics. There were 1480 children classified as ASD (81.6% boys) and 594 children classified as having subthreshold ASD characteristics (70.2% boys) in the sample. Factors associated with dysregulation (e.g., aggression, anxiety/depression, sleep problems) followed by developmental abilities (e.g., expressive and receptive language skills) most contributed to heterogeneity in both groups of children. Atypical sensory response contributed to homogeneity in children classified as ASD but not those with subthreshold characteristics. These findings suggest that dysregulation and developmental abilities are clinical features that can impact functioning in children with ASD and other DD, and that documenting these features in pediatric records may help meet the needs of the individual child. Sensory dysfunction could be considered a core feature of ASD and thus used to inform more targeted screening, evaluation, treatment, and research efforts. LAY SUMMARY: The diverse nature of autism spectrum disorder (ASD) makes it difficult to find risk factors and treatment options. We identified the most dissimilar and most similar symptom(s) in children classified as ASD and as having subthreshold ASD characteristics. Factors associated with dysregulation and developmental abilities contributed to diversity in both groups of children. Sensory dysfunction was the most common symptom in children with ASD but not those with subthreshold characteristics. Findings can inform clinical practice and research.

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