1. Adornetti I, Chiera A, Altavilla D, Deriu V, Marini A, Gobbo M, Valeri G, Magni R, Ferretti F. Defining the Characteristics of Story Production of Autistic Children: A Multilevel Analysis. Journal of autism and developmental disorders. 2023.

Several studies suggest that a valuable tool to examine linguistic skills in communication disorders is offered by procedures of narrative discourse assessment. Following this line of research, we present an exploratory study aimed to investigate storytelling abilities of autistic children to better define the characteristics of their story production. Participants included 41 autistic children and 41 children with typical development aged between 7.02 and 11.03 years matched on age, gender, level of formal education, intelligence quotient, working memory, attention skills, theory of mind, and phonological short-term memory. Narrative production was assessed by analysing the language samples obtained through the « Nest Story » description task. A multilevel analysis including micro- and macro-linguistic variables was adopted for narrative assessment. Group differences emerged on both micro- and macro-linguistic dimensions: autistic children produced narratives with more phonological errors and semantic paraphasias (microlinguistic variables) as well as more errors of global coherence and a fewer number of visible events and inferred events (macrolinguistic variables) than the control group.This study shows that even autistic children with adequate cognitive skills display several limitations in their narrative competence and that such weaknesses affect both micro- and macrolinguistic aspects of story production.

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2. Benevides T, Watling R, Robertson SM. Person-Centered Interventions for Autistic Adults Ages 18+ (2013-2021). The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(Suppl 1).

Systematic review briefs provide a summary of the findings from systematic reviews developed in conjunction with the Evidence-Based Practice Program of the American Occupational Therapy Association. Each systematic review brief summarizes the evidence for a theme related to a systematic review topic. This systematic review brief presents findings from a systematic review of family- and person-centered planning interventions for autistic1 adults aged 18+ years gathered from literature published between 2013 and 2021.

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3. Evans MM, Kim J, Abel T, Nickl-Jockschat T, Stevens HE. Developmental disruptions of the dorsal striatum in autism spectrum disorder. Biological psychiatry. 2023.

Autism spectrum disorder (ASD) is an increasingly prevalent neurodevelopmental condition that is characterized by social and communication deficits as well as patterns of restricted, repetitive behavior. Abnormal brain development has long been postulated to underlie ASD, but longitudinal studies aimed at understanding the developmental course of the disorder have been limited. More recently, abnormal development of the striatum in ASD has become an area of interest in research, partially due to overlap of striatal functions and deficit areas in ASD, as well as the critical role of striatum in early development when ASD is first detected. Focusing on the dorsal striatum and the associated symptom domain of restricted, repetitive behavior, we review the current literature on dorsal striatal abnormalities in ASD, including studies on functional connectivity, morphometry, and cellular and molecular substrates. We highlight that observed striatal abnormalities in ASD are often dynamic across development, displaying disrupted developmental trajectories. Important findings include an abnormal trajectory of increasing cortico-striatal functional connectivity with age and increased striatal growth during childhood in ASD. We end by discussing striatal findings from animal models of ASD. In sum, the studies reviewed here demonstrate a key role for developmental disruptions of the dorsal striatum in the pathogenesis of ASD. Directing attention toward these findings will improve our understanding of ASD and of how associated deficits may be better addressed.

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4. I DV, Proskokova TN. [Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene]. Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2023; 123(8): 124-8.

Phelan-McDermid syndrome (PMS) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in SHANK3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. We describe a case PMS associated with a heterozygous mutation c.2486delC (p.Pro829fs) in SHANK3. The diagnostic pathway of a female patient with PMS took more than 7 years; the reason for treatment was the onset of epileptic seizures and impaired speech development. The existence of different types of rearrangements and genomic variations can explain the high clinical variability observed in individuals with PMS. Only molecular diagnosis can accurately diagnose individuals with PMS for follow-up and medical genetic counselling of families.

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5. Jiang Y, Dang W, Nie H, Kong X, Jiang Z, Guo J. Omega-3 polyunsaturated fatty acids and/or vitamin D in autism spectrum disorders: a systematic review. Frontiers in psychiatry. 2023; 14: 1238973.

This systematic review aims to offer an updated understanding of the relationship between omega-3 supplementation and/or vitamin D and autism spectrum disorders (ASD). The databases PubMed, Cochrane Library, Web of Science, EMBASE, CINAHL, Vip, CNKI, Wanfang, China Biomedical Database databases were searched using keywords, and relevant literature was hand-searched. Papers (n = 1,151) were systematically screened and deemed eligible since 2002. Twenty clinical controlled studies were included in the final review. The findings were analyzed for intervention effects focusing on the core symptoms of ASD, included social functioning, behavioral functioning, speech function and biomarkers changes. The review found that the effects of omega-3 supplementation on ASD were too weak to conclude that core symptoms were alleviated. Vitamin D supplementation improved core symptoms, particularly behavioral functioning, however, the results of the literatures included in this study were slightly mixed, we cannot directly conclude that vitamin D supplementation has a beneficial effect on a specific symptom of ASD, but the overall conclusion is that vitamin D supplementation has a positive effect on behavioral functioning in ASD. Omega-3 and vitamin D combination supplementation has a good combined effect on social and behavioral outcomes in patients with ASD.

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6. Kaplan-Kahn EA, Caplan R. Combating stigma in autism research through centering autistic voices: a co-interview guide for qualitative research. Frontiers in psychiatry. 2023; 14: 1248247.

As autism has gained increased attention in the past few decades, autistic advocates have adopted the phrase « Nothing about us without us, » illustrating the idea that autistic people should be centered in all conversations regarding autism. However, in a large portion of autism research, autistic people are still not meaningfully engaged throughout the research process, leading to continued stigma in research through biased methods. Thus, stigma about autism influences not only the content of autism research, but the ways in which neurotypical people conduct research alongside (or without) autistic people, ultimately resulting in less valid conclusions or research that actively harms the autistic community. One way to address this stigma is through involving autistic individuals as equal partners in the research process, such as by including autistic co-interviewers in qualitative studies of autistic people. In this perspectives piece, we will highlight the benefits of participatory research practices within qualitative research. Furthermore, we will outline methods for conducting co-interviews with autistic research partners and share insights from our experiences implementing this practice. We hope this piece provides researchers the practical resources and inspiration to continue working toward decreasing the stigma surrounding autism in research spaces.

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7. Mannion A, Leader G. Relationship Between Gastrointestinal Symptoms in Autism Spectrum Disorder and Parent Stress, Anxiety, Depression, Quality of Life and Social Support. Journal of autism and developmental disorders. 2023.

Gastrointestinal (GI) symptoms are a common comorbidity in children and adolescents with autism spectrum disorder (ASD). Little is known about the impact that GI symptoms have on parental well-being. Parents of 409 children and adolescents with ASD completed the GI Symptoms Inventory, Parenting Stress Index-Short Form, World Health Organization Quality of Life Abbreviated Version, Hospital Anxiety and Depression Scale, and the Multidimensional Scale of Perceived Social Support. High levels of stress were demonstrated by parents with 40.1% receiving clinically significant scores. A relationship was found between parental stress and GI symptoms. Parental anxiety and depression were found at high levels but were not more common in parents of individuals with GI symptoms than those without. Lower levels of quality of life were found in parents of individuals with GI symptoms compared to parents of individuals without GI symptoms. Parents of children with GI symptoms were less satisfied with their personal and social relationships with others. Parents of children with GI symptoms had lower scores on a measure of perceived social support than parents of children and adolescents without GI symptoms. GI symptoms are stressful for parents and future research is needed to determine how to alleviate this stress and to improve the quality of life of parents of individuals with ASD.

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8. Oblong LM, Llera A, Mei T, Haak K, Isakoglou C, Floris DL, Durston S, Moessnang C, Banaschewski T, Baron-Cohen S, Loth E, Dell’Acqua F, Charman T, Murphy DGM, Ecker C, Buitelaar JK, Beckmann CF, Forde NJ. Linking functional and structural brain organisation with behaviour in autism: a multimodal EU-AIMS Longitudinal European Autism Project (LEAP) study. Molecular autism. 2023; 14(1): 32.

Neuroimaging analyses of brain structure and function in autism have typically been conducted in isolation, missing the sensitivity gains of linking data across modalities. Here we focus on the integration of structural and functional organisational properties of brain regions. We aim to identify novel brain-organisation phenotypes of autism. We utilised multimodal MRI (T1-, diffusion-weighted and resting state functional), behavioural and clinical data from the EU AIMS Longitudinal European Autism Project (LEAP) from autistic (n = 206) and non-autistic (n = 196) participants. Of these, 97 had data from 2 timepoints resulting in a total scan number of 466. Grey matter density maps, probabilistic tractography connectivity matrices and connectopic maps were extracted from respective MRI modalities and were then integrated with Linked Independent Component Analysis. Linear mixed-effects models were used to evaluate the relationship between components and group while accounting for covariates and non-independence of participants with longitudinal data. Additional models were run to investigate associations with dimensional measures of behaviour. We identified one component that differed significantly between groups (coefficient = 0.33, p(adj) = 0.02). This was driven (99%) by variance of the right fusiform gyrus connectopic map 2. While there were multiple nominal (uncorrected p < 0.05) associations with behavioural measures, none were significant following multiple comparison correction. Our analysis considered the relative contributions of both structural and functional brain phenotypes simultaneously, finding that functional phenotypes drive associations with autism. These findings expanded on previous unimodal studies by revealing the topographic organisation of functional connectivity patterns specific to autism and warrant further investigation.

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9. Pellecchia M, Mandell DS, Beidas RS, Dunst CJ, Tomczuk L, Newman J, Zeigler L, Stahmer AC. Parent Coaching in Early Intervention for Autism Spectrum Disorder: A Brief Report. Journal of early intervention. 2023; 45(2): 185-97.

Coaching caregivers of young children on the autism spectrum is a critical component of parent-mediated interventions. Little information is available about how providers implement parent coaching for children on the autism spectrum in publicly funded early intervention systems. This study evaluated providers’ use of parent coaching in an early intervention system. Twenty-five early intervention sessions were coded for fidelity to established caregiver coaching techniques. We found low use of coaching techniques overall, with significant variability in use of coaching across providers. When providers did coach caregivers, they used only a few coaching strategies (e.g., collaboration and in-vivo feedback). Results indicate that targeted training and implementation strategies focused on individual coaching components, instead of coaching more broadly, may be needed to improve the use of individual coaching strategies. A focus on strengthening the use of collaboration and in-vivo feedback may be key to improving coaching fidelity overall.

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10. Stephens MM, Casola AR, Cooper ET, Rea O, Roseman K. Development and implementation of a continuing care program for patients with intellectual and developmental disabilities in family medicine. Family practice. 2023.

In the United States, individuals with intellectual and developmental disabilities (IDD) consistently experience health disparities. One factor is limited access to quality healthcare services equipped to meet the needs of those with IDD, particularly as they transition to adulthood. The purpose of this work is to describe the development and implementation of Jefferson’s Continuing Care Program (JCCP), which was designed to address this care gap. We share how the idea, logistics, and support for the clinic were developed; how JCCP was designed to be uniquely accessible both via physical space and clinic flow; and how those challenges encountered have been crucial for fine-tuning optimal patient care. Since its inception in 2019, JCCP has made large strides towards educating the next generation of medical providers to care for patients with IDD. Looking to the future, JCCP plans to broaden its impact by serving more patients, continuing our advocacy and education work, and continuing to adapt to the needs of our community.

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11. Wang J, Li W, Li Z, Xue Z, Zhang Y, Yuan Y, Shi Y, Shan S, Han W, Li F, Qiu Z. Taok1 haploinsufficiency leads to autistic-like behaviors in mice via the dorsal raphe nucleus. Cell reports. 2023; 42(9): 113078.

Strong evidence from human genetic studies associates the thousand and one amino acid kinase 1 (TAOK1) gene with autism spectrum disorder (ASD). In this work, we discovered a de novo frameshifting mutation in TAOK1 within a Chinese ASD cohort. We found that Taok1 haploinsufficiency induces autistic-like behaviors in mice. Importantly, we observed a significant enrichment of Taok1 in the dorsal raphe nucleus (DRN). The haploinsufficiency of Taok1 considerably restrained the activation of DRN neurons during social interactions, leading to the aberrant phosphorylation of numerous proteins. Intriguingly, the genetic deletion of Taok1 in VGlut3-positive neurons of DRN resulted in mice exhibiting autistic-like behaviors. Ultimately, reintroducing wild-type Taok1, but not its kinase-dead variant, into the DRN of adult mice effectively mitigated the autistic-like behaviors associated with Taok1 haploinsufficiency. This work suggests that Taok1, through its influence in the DRN, regulates social interaction behaviors, providing critical insights into the etiology of ASD.

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12. Watling R, Benevides T, Robertson SM. Family-Centered Interventions for Children on the Autism Spectrum (2013-2021). The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(Suppl 1).

Systematic review briefs provide a summary of the findings from systematic reviews developed in conjunction with the American Occupational Therapy Association’s Evidence-Based Practice Program. Each systematic review brief summarizes the evidence on a theme related to a systematic review topic. The authors completed a systematic review of family- and person-centered planning interventions for families of autistic1 children, or autistic adolescents and adults gathered from literature published between 2013 and 2021. This systematic review brief presents findings from the six included articles that focused on family-centered planning interventions. Emerging evidence from these six studies supports the use of coaching interventions with caregivers of children on the autism spectrum to address both child and parent outcomes. These outcomes include individualized goals; caregiver sense of competence, empowerment, or self-efficacy; occupational performance of children and mothers; and caregiver satisfaction with their child’s occupational performance.

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