1. Bagcioglu E, Solmaz V, Erbas O, Özkul B, Çakar B, Uyanikgil Y, Söğüt İ. Modafinil Improves Autism-like Behavior in Rats by Reducing Neuroinflammation. Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology. 2023.

To evaluate the ameliorating effect of Modafinil on neuroinflammation, behavioral, and histopathological alterations in rats induced by propionic acid (PPA). Thirty male Wistar rats were used in the study, divided into 3 groups of ten subjects. One group served as a control, the subjects in the other two were given 250 mg/kg/day of PPA by intraperitoneal injection over the course of 5 days to induce autism. The experimental design was as follows: Group 1: Normal control (orally-fed control, n = 10); Group 2 (PPA + saline, n = 10): PPA and 1 ml/kg/day % 0.9 NaCl saline via oral gavage; Group 3 (PPA + Modafinil, n = 10) PPA and 30 mg/kg/day Modafinil (Modiodal tablets 100 mg, Cephalon) via oral gavage. All of the groups were investigated for behavioral, biochemical, and histological abnormality. Autism-like behaviors were reduced significantly in the rats treated with PPA. TNF-α, Nerve Growth Factor (NGF), IL-17, IL-2, and NF-KB levels as well as MDA levels and lactate were significantly higher in those treated with PPA compared to the control group. Using immunohistochemical methods, the number of neurons and GFAP immunoreactivity was significantly altered in PPA-treated rats compared to the control. Using Magnetic Resonance Spectroscopy (MRS), we found that lactate levels were significantly higher in the PPA-treated rats, while creatinine levels were significantly decreased. In the rats administered with Modafinil, behavior, neuroinflammation, and histopathological changes brought about by PPA were significantly reversed. Our results demonstrate the potential role of Modafinil in ameliorating PPA-induced neuroinflammation in rats.

Lien vers le texte intégral (Open Access ou abonnement)

2. Campi E, Sideris J, Wiles A, Phillips A, Carrasquero VV, Ausderau K, Baranek G. Associations Among Clinical Factors and Occupational Therapy Service Utilization in Children With Autism Spectrum Disorder. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Limited research has elucidated factors predicting occupational therapy-specific service utilization by children with autism. Such research is needed to inform reasons for receipt of services. OBJECTIVE: To examine factors associated with occupational therapy service utilization by children with autism. We hypothesized that elevated sensory hyperresponsiveness; greater sensory interests, repetitions, and seeking; and lower adaptive behavior would predict more service utilization. DESIGN: Analysis of extant data from a prospective, longitudinal survey study about autism symptom severity, adaptive behavior, sensory features, and demographic and service utilization information of children with autism ages 3 to 13 yr. SETTING: Online parent survey regarding child behaviors during daily activities and contexts. PARTICIPANTS: 892 parents of children with autism from 50 U.S. states. OUTCOMES AND MEASURES: We used scores on the Vineland Adaptive Behavior Scale-Second Edition, the Social Responsiveness Scale, and the Sensory Experiences Questionnaire Version 3.0 and responses to a demographic questionnaire. We formulated hypotheses after data collection but before analysis. RESULTS: Predictors of higher occupational therapy service utilization were lower enhanced perception; lower adaptive behavior; elevated sensory interests, repetitions, and seeking behaviors; younger child age; and higher household income. CONCLUSION AND RELEVANCE: Results partially support our hypotheses. Sensory interests, repetitions, and seeking behavior predicted occupational therapy service utilization, whereas other sensory response patterns did not, suggesting a possible referral bias for certain sensory response patterns. Occupational therapy practitioners can educate parents and teachers about the scope of practice, which includes addressing sensory features beyond sensory interests, repetitions, and seeking behaviors. What This Article Adds: Children with autism who have impairments in adaptive functioning and high levels of sensory interests, repetitions, and seeking behaviors receive more occupational therapy services. Occupational therapy practitioners should be well trained to address such concerns and advocate for the profession’s role in mitigating the impact of sensory features on daily life.

Lien vers le texte intégral (Open Access ou abonnement)

3. Crehan ET, Yang X, Dufresne S, Barstein J, Stephens L, Dekker L, Greaves-Lord K. Adapting the Tackling Teenage Training Sex Education Program for Autistic Adults in the US: A Pilot Study. Journal of autism and developmental disorders. 2023.

Despite the established need for sexuality and relationship programming for autistic adults, there are extremely limited curricula for this population. This pilot study used an evidence-based sexuality and relationship education program for autistic adolescents (Tackling Teenage Training) as the basis for an adult-focused virtual psychoeducational group. Qualitative feedback, quantitative ratings of the programming, and behavioral surveys from participants were collected. Nine participants completed the program, and corresponding pre and post measures. Highly rated topics, for example gender identity and online dating, were consistent with previous research on what autistic adults want from a sexuality and relationship education program. Future programming should incorporate increased attention to themes and topics highlighted by participants, and should utilize the teaching tools (e.g., role play, peer discussions) identified as useful by the participants.

Lien vers le texte intégral (Open Access ou abonnement)

4. Esquilín Nieves AA, Danzak RL. Examining Perspectives of Latina Mothers and Speech-Language Pathologists Through Dyadic Interviews: Implications for Latine Children on the Autism Spectrum. Language, speech, and hearing services in schools. 2023: 1-19.

PURPOSE: This qualitative pilot study explored cultural perspectives and needs of two bilingual (Spanish/English) Latina mothers with children on the autism spectrum in conversations with their children’s speech-language pathologists (SLPs), one identifying as Mexican American and the other identifying as White American. METHOD: Dyadic interviews were used to promote dialogue and learning opportunities for the participants. Two dyads (mothers and SLPs) participated, completing background questionnaires, dyadic interviews, and post-interview written reflections. RESULTS: Three main themes emerged from the qualitative analysis of the dyadic interviews: comunicación (communication), language, and challenge. Post-interview written reflections evidenced increased advocacy skills for the mothers and heightened awareness regarding communication style for the SLPs. CONCLUSION: The lived experiences revealed by all participants offer several implications: (a) the value of extended conversations between caregivers and service providers, (b) caregiver sacrifices, (c) the importance of cultural sensitivity for SLPs, and (d) positive outcomes from online learning for children on the autism spectrum.

Lien vers le texte intégral (Open Access ou abonnement)

5. Geng J, Khaket TP, Pan J, Li W, Zhang Y, Ping Y, Cobos Sillero MI, Lu B. Deregulation of ER-mitochondria contact formation and mitochondrial calcium homeostasis mediated by VDAC in fragile X syndrome. Developmental cell. 2023; 58(7): 597-615.e10.

Loss of fragile X messenger ribonucleoprotein (FMRP) causes fragile X syndrome (FXS), the most prevalent form of inherited intellectual disability. Here, we show that FMRP interacts with the voltage-dependent anion channel (VDAC) to regulate the formation and function of endoplasmic reticulum (ER)-mitochondria contact sites (ERMCSs), structures that are critical for mitochondrial calcium (mito-Ca(2+)) homeostasis. FMRP-deficient cells feature excessive ERMCS formation and ER-to-mitochondria Ca(2+) transfer. Genetic and pharmacological inhibition of VDAC or other ERMCS components restored synaptic structure, function, and plasticity and rescued locomotion and cognitive deficits of the Drosophila dFmr1 mutant. Expressing FMRP C-terminal domain (FMRP-C), which confers FMRP-VDAC interaction, rescued the ERMCS formation and mito-Ca(2+) homeostasis defects in FXS patient iPSC-derived neurons and locomotion and cognitive deficits in Fmr1 knockout mice. These results identify altered ERMCS formation and mito-Ca(2+) homeostasis as contributors to FXS and offer potential therapeutic targets.

Lien vers le texte intégral (Open Access ou abonnement)

6. He JL, Williams ZJ, Harris A, Powell H, Schaaf R, Tavassoli T, Puts NAJ. A working taxonomy for describing the sensory differences of autism. Molecular autism. 2023; 14(1): 15.

BACKGROUND: Individuals on the autism spectrum have been long described to process sensory information differently than neurotypical individuals. While much effort has been leveraged towards characterizing and investigating the neurobiology underlying the sensory differences of autism, there has been a notable lack of consistency in the terms being used to describe the nature of those differences. MAIN BODY: We argue that inconsistent and interchangeable terminology-use when describing the sensory differences of autism has become problematic beyond mere pedantry and inconvenience. We begin by highlighting popular terms that are currently being used to describe the sensory differences of autism (e.g. « sensitivity », « reactivity » and « responsivity ») and discuss why poor nomenclature may hamper efforts towards understanding the aetiology of sensory differences in autism. We then provide a solution to poor terminology-use by proposing a hierarchical taxonomy for describing and referring to various sensory features. CONCLUSION: Inconsistent terminology-use when describing the sensory features of autism has stifled discussion and scientific understanding of the sensory differences of autism. The hierarchical taxonomy proposed was developed to help resolve lack of clarity when discussing the sensory differences of autism and to place future research targets at appropriate levels of analysis.

Lien vers le texte intégral (Open Access ou abonnement)

7. Hidaka S, Gotoh M, Yamamoto S, Wada M. Exploring relationships between autistic traits and body temperature, circadian rhythms, and age. Scientific reports. 2023; 13(1): 5888.

The number of clinical diagnoses of autism spectrum disorder (ASD) is increasing annually. Interestingly, the human body temperature has also been reported to gradually decrease over the decades. An imbalance in the activation of the excitatory and inhibitory neurons is assumed to be involved in the pathogenesis of ASD. Neurophysiological evidence showed that brain activity decreases as cortical temperature increases, suggesting that an increase in brain temperature enhances the inhibitory neural mechanisms. Behavioral characteristics specific to clinical ASD were observed to be moderated when people with the diagnoses had a fever. To explore the possible relationship between ASD and body temperature in the general population, we conducted a survey study using a large population-based sample (N ~ 2000, in the age groups 20s to 70s). Through two surveys, multiple regression analyses did not show significant relationships between axillary temperatures and autistic traits measured by questionnaires (Autism Spectrum (AQ) and Empathy/Systemizing Quotients), controlling for covariates of age and self-reported circadian rhythms. Conversely, we consistently observed a negative relationship between AQ and age. People with higher AQ scores tended to have stronger eveningness. Our findings contribute to the understanding of age-related malleability and the irregularity of circadian rhythms related to autistic traits.

Lien vers le texte intégral (Open Access ou abonnement)

8. Holmes LG, Goebel RJ, Hollingue C, Zhu S, Zhang H, Shan W, Wang S, Caplan R, Sanchez A, Wharmby P, Chiang M, Person M, Rothman EF. Reductions in Depression and Anxiety Among Autistic Adults Participating in an Intervention to Promote Healthy Relationships. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Some autistic adults experience depression and anxiety related to their social relationships. There is a need for evidence-based occupational therapy interventions that decrease depression and anxiety and improve the health of social relationships for autistic adults. OBJECTIVE: To determine the feasibility and preliminary effectiveness of the Healthy Relationships on the Autism Spectrum (HEARTS) intervention, a six-session, group-based psychoeducational intervention for the improvement of relationship health. DESIGN: One-group pretest-posttest design with a 3-mo follow-up after baseline. SETTING: United States; online intervention through community organization. PARTICIPANTS: Fifty-five adults, ages 20 to 43 yr, with a professional or self-diagnosis of autism and the capacity to independently participate in an online, group-based, participatory class. INTERVENTION: Participants received 6 90-min weekly sessions that addressed healthy relationship topics, including recognizing abuse, meeting people, maintaining relationships, setting interpersonal boundaries, neurohealth for relationships, and ending relationships. A psychoeducational approach that provided education and involved guided discovery and strategy acquisition was used. OUTCOMES AND MEASURES: All measures were self-administered through an online survey. Depression and anxiety were assessed using instruments from the Patient-Reported Outcomes Measurement Information System. RESULTS: Fifty-five participants completed the intervention. Postintervention scores revealed statistically significant improvements in depression and anxiety. CONCLUSIONS AND RELEVANCE: HEARTS is a promising intervention for improving depression and anxiety among autistic adults and should be investigated further. What This Article Adds: HEARTS offers a potentially effective, nonpharmacological, psychoeducational group-based intervention option to promote healthy relationships for autistic adults. Positionality Statement: This article uses identity-first language (autistic person) in accordance with the preference of autistic self-advocates (Autistic Self Advocacy Network, 2020; Kenny et al., 2016; Lord et al., 2022).

Lien vers le texte intégral (Open Access ou abonnement)

9. Khandan Khadem-Reza Z, Shahram MA, Zare H. Altered resting-state functional connectivity of the brain in children with autism spectrum disorder. Radiological physics and technology. 2023.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders. Brain mapping has shown that functional brain connections are altered in autism. This study investigated the pattern of brain connection changes in autistic people compared to healthy people. This study aimed to analyze functional abnormalities within the brain due to ASD, using resting-state functional magnetic resonance imaging (fMRI). Resting-state functional magnetic resonance images of 26 individuals with ASD and 26 healthy controls were obtained from the Autism Brain Imaging Data Exchange (ABIDE) database. The DPARSF (data processing assistant for resting-state fMRI) toolbox was used for resting-state functional image processing, and features related to functional connections were extracted from these images. Then, the extracted features from both groups were compared using an Independent Two-Sample T Test, and the features with significant differences between the two groups were identified. Compared with healthy controls, individuals with ASD showed hyper-connectivity in the frontal lobe, anterior cingulum, parahippocampal, left precuneus, angular, caudate, superior temporal, and left pallidum, as well as hypo-connectivity in the precentral, left superior frontal, left middle orbitofrontal, right amygdala, and left posterior cingulum. Our findings show that abnormal functional connectivity exists in patients with ASD. This study makes an important advancement in our understanding of the abnormal neurocircuits causing autism.

Lien vers le texte intégral (Open Access ou abonnement)

10. Klein J, Kerns C, Hills K, Hogan A, Matherly S, Roberts J. Brief Report: Prevalence and Predictors of DSM-Specific and Distinct Anxiety in Cognitively Impaired Autistic Preschool Children. Journal of autism and developmental disorders. 2023.

Autistic individuals are twice as likely to meet criteria for anxiety than neurotypical children; yet we lack understanding of early presentations of anxiety in young autistic children, especially those with cognitive impairment. This study is the first to utilize an autism-specific anxiety diagnostic interview with 28 preschool cognitively impaired, autistic children and 18 neurotypical, age-matched controls. Results indicate that 64% of autistic children met criteria for DSM-specified or « other specified, » herein referred to as « distinct, » anxiety disorders; 32% met criteria for multiple anxiety disorders, with phobias occurring most often. Results indicate that anxiety is highly prevalent in cognitively-impaired, autistic preschool children, highlighting the need for developmentally-tailored assessment and treatment in early childhood.

Lien vers le texte intégral (Open Access ou abonnement)

11. Levi MK, Schreuer N, Granovsky Y, Bar-Shalita T, Fogel IW, Hoffman T, Gal E. « Feeling Unwanted, When Nobody Wants You Around »: Perceptions of Social Pain Among People With Autism. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: A paucity of studies have focused on pain experiences among people with autism spectrum disorder, particularly those addressing social pain in daily life contexts or learning from the perspective of autistic people. OBJECTIVE: To explore the social pain experience of autistic people. DESIGN: A descriptive qualitative design followed by deductive thematic analysis. Interviews were semistructured to capture the social pain experience, coping strategies, and implications for the participation of autistic people. SETTING: Online interviews using Zoom videoconferencing software. PARTICIPANTS: Fifteen autistic people were recruited for the study using purposeful and criterion sampling. RESULTS: Four primary themes emerged from the data analysis: (1) a definition of social pain and the distinction between social pain and other types of pain; (2) the sources-internal, external, and combined-of social pain; (3) the loneliness outcome, which echoes the gap between the desire for and lack of social contacts; and (4) coping strategies pertaining to the continuum between inward and outward coping strategies to deal with social pain. CONCLUSION AND RELEVANCE: The study indicates the existence of a discrepancy between autistic people’s need for social interactions and the social pain they experience. It calls for intervention programs for autistic people to improve their coping strategies and promote their self-acceptance and better inclusion in the community. What This Article Adds: Promoting social functioning is a prime role of occupational therapists, and this article adds a novel theoretical model that contributes to that role. The model represents the social pain experiences of autistic people and their strategies to overcome this phenomenon. Firsthand accounts of autistic people regarding social pain enable a better understanding of their desire to be involved in the social context. This study suggests directions for further intervention programs to assist autistic people in fulfilling their wish for social relationships and enabling their enhanced integration into society. Positionality Statement: We recognize that use of person-first versus identity-first language is a source of debate and controversy. We have chosen to use identity-first language for two reasons. First, studies indicate person with autism is the term least preferred by autistic people (Botha et al., 2021). Second, autistic is the term used by the majority of our participants during interviews.

Lien vers le texte intégral (Open Access ou abonnement)

12. Lin HY, Abi-Jaoude E, Desarkar P, Wang W, Ameis SH, Lai MC, Lunsky Y, Rajji TK. Nabilone treatment for severe behavioral problems in adults with intellectual and developmental disabilities: Protocol for a phase I open-label clinical trial. PloS one. 2023; 18(4): e0282114.

Severe behavioral problems (SBPs) are common contributors to morbidity and reduced quality of life for adults with intellectual and developmental disabilities (IDD) and their families. Current medications for SBPs show equivocal effectiveness and are associated with a high risk of side effects. New and safe treatments are urgently needed. While preliminary studies suggest that medical cannabinoids, particularly the synthetic cannabinoid nabilone, are plausible treatment options for SBPs in adults with IDD, data on the tolerability, safety and efficacy of nabilone in this population has never been investigated. Thus, we propose this first-ever Phase I pre-pilot open-label clinical trial to obtain preliminary data on the adherence, tolerability and safety profiles of nabilone in adults with IDD, and explore changes in SBPs pre- to post-treatment. We hypothesize that nabilone has favorable tolerability and safety profile for adults with IDD. The preliminary results will inform the next-stage pilot randomized controlled trials, followed by fully powered clinical trials eventually. This research helps fill the evidence gap in the use of cannabinoids in individuals with IDD to meet the needs of patients, families, and service providers.

Lien vers le texte intégral (Open Access ou abonnement)

13. MacDonald-Prégent A, Saiyed F, Hyde K, Sharda M, Nadig A. Correction: Response to Music-Mediated Intervention in Autistic Children with Limited Spoken Language Ability. Journal of autism and developmental disorders. 2023.

Lien vers le texte intégral (Open Access ou abonnement)

14. Mahoney WJ, Abraham G, Villacrusis M. Many Hands Working Together: Adapting Hospital Care to Support Autistic Children’s Mental Health. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Hospitals pose a threat to autistic children’s mental health. Adapting hospitals to meet children’s needs can address this issue. OBJECTIVE: To determine the impact of an interprofessional program (Adaptive Care) to support autistic children’s mental health on nursing staff’s knowledge, efficacy, and confidence. DESIGN: Pretest-posttest, quasi-experimental design. SETTING: Large pediatric hospital. PARTICIPANTS: Nursing staff were the first participants in the program implementation. Approximately 300 nursing staff received training through the program, and 107 completed program evaluation surveys. Of these, 18 nursing staff completed both the pretest and posttest surveys approximately 1 yr apart. INTERVENTION: Occupational therapy practitioners and other professionals developed and implemented the program, which consists of staff training and resources to adapt hospital physical and social environments and to ultimately improve patients’ hospital experiences. OUTCOMES AND MEASURES: Researcher-developed, pilot-tested, online survey to assess knowledge, perceived effectiveness, confidence, and strategies that staff used while caring for autistic children in the hospital. RESULTS: Respondents had increased effectiveness and confidence working with autistic children in the hospital after program implementation. Respondents reported significantly more strategies to care for autistic children. CONCLUSIONS AND RELEVANCE: Interprofessional collaboration and programming can positively affect social environments in the hospital by enhancing nursing staff’s self-efficacy, confidence, and strategies to support mental health and to enhance health care for autistic children. What This Article Adds: The Adaptive Care program is an example of occupational therapy practitioners and other interprofessional team members adapting physical and social health care environments to support autistic children’s mental health. This program was effective at increasing nursing staff’s self-efficacy, confidence, and strategies while caring for autistic children in the hospital. Positionality Statement: This article uses the identity-first language autistic people. This nonableist language describes their strengths and abilities and is a conscious decision. This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021; Kenny et al., 2016).

Lien vers le texte intégral (Open Access ou abonnement)

15. McKowen J, Berger A, Towbin J, Yule AM, Woodward D, Nowinski L, Forchelli G, Meyers RJ, Joshi G, Wilens TE. A Manualized Behavioral Therapy Intervention for Youth with Autism Spectrum Disorder and Substance Use Disorder. Case reports in psychiatry. 2023; 2023: 8998160.

Research highlights the increasing overlap of autism spectrum disorder and substance use disorders in young people. However, no behavioral treatments exist addressing this comorbidity despite great need. A team of clinicians developed an integrated behavioral protocol addressing substance use in youth with autism spectrum disorder. The multidisciplinary team developed 12 youth, 7 parent, and 3 joint modules based on established evidence-based therapies shown to have effectiveness separately addressing autism spectrum and substance use. Two cases are discussed to illuminate this integrated intervention. Adaptations to the protocol were made during feedback from patients and their parents. Further research is needed to determine the effectiveness of this preliminary protocol.

Lien vers le texte intégral (Open Access ou abonnement)

16. Mitsuhashi T, Hattori S, Fujimura K, Shibata S, Miyakawa T, Takahashi T. In utero exposure to valproic acid throughout pregnancy causes phenotypes of autism in offspring mice. Developmental neuroscience. 2023.

Valproic acid (VPA) is an antiepileptic drug that inhibits the epileptic activity of neurons mainly by inhibiting sodium channels and GABA transaminase. VPA is also known to inhibit histone deacetylases, which epigenetically modify the cell proliferation/differentiation characteristics of stem/progenitor cells within developing tissues. Recent clinical studies in humans have indicated that VPA exposure in utero increases the risk of autistic features and intellectual disabilities in offspring; we previously reported that low-dose VPA exposure in utero throughout pregnancy increases the production of projection neurons from neuronal stem/progenitor cells that are distributed in the superficial neocortical layers of the fetal brain. In the present study, we found that in utero VPA-exposed mice exhibited abnormal social interaction, changes in cognitive function, hypersensitivity to pain/heat, and impaired locomotor activity, all of which are characteristic symptoms of autistic spectrum disorder in humans. Taken together, our findings indicate that VPA exposure in utero throughout pregnancy alters higher brain function and predisposes individuals to phenotypes that resemble autism and intellectual disability. Furthermore, these symptoms are likely to be due to neocortical dysgenesis that was caused by an increased number of projection neurons in specific layers of the neocortex.

Lien vers le texte intégral (Open Access ou abonnement)

17. Nimbley E, Maloney E, Duffy F. A call for autism-led research exploring definitions of recovery in Autistic individuals with an eating disorder. The International journal of eating disorders. 2023.

RESEARCH GAP: It is now established that definitions of recovery in eating disorders (EDs) should be informed by the lived/living experience of individuals and consider a broad range of physical, behavioral, and psychological factors. Autism is a common co-occurring condition in EDs reflecting unique needs and experiences; however, very little research to date has explored definitions of recovery from EDs in Autistic populations. The current article will briefly review what we know about autism and EDs, before addressing how we can apply and extend what we know about broader ED recovery research to the unique needs of Autistic individuals with ED. SUGGESTED APPROACH: We propose that future studies are urgently required exploring definitions and conceptualizations of recovery in Autistic individuals with EDs, rooted in autism-led, participatory research approaches and incorporating physical, behavioral, and psychological factors. DISCUSSION: Benefits and possible obstacles of implementing the proposed approach are discussed, before the authors outline specific suggestions for participatory designs and targets for future studies. Multidimensional and mixed method approaches to ED recovery will work toward integrating clinically measurable outcomes with lived/living experience perspectives. PUBLIC SIGNIFICANCE: EDs are common in Autistic individuals, however, very little is known about definitions of ED recovery in this population. Cross-disciplinary, research-driven definitions involving lived/living experience at all stages of the research process will generate meaningful and translational research.

Lien vers le texte intégral (Open Access ou abonnement)

18. Oomen D, Cracco E, Brass M, Wiersema JR. EEG frequency tagging evidence of intact social interaction recognition in adults with autism. Autism research : official journal of the International Society for Autism Research. 2023.

To explain the social difficulties in autism, many studies have been conducted on social stimuli processing. However, this research has mostly used basic social stimuli (e.g., eyes, faces, hands, single agent), not resembling the complexity of what we encounter in our daily social lives and what people with autism experience difficulties with. Third-party social interactions are complex stimuli that we come across often and are also highly relevant for social functioning. Interestingly, the existing behavioral studies point to altered social interaction processing in autism. However, it is not clear whether this is due to altered recognition or altered interpretation of social interactions. Here, we specifically investigated the recognition of social interaction in adults with and without autism. More precisely, we measured neural responses to social scenes depicting either social interaction or not with an electroencephalogram frequency tagging task and compared these responses between adults with and without autism (N = 61). The results revealed an enhanced response to social scenes with interaction, replicating previous findings in a neurotypical sample. Crucially, this effect was found in both groups, with no difference between them. This suggests that social interaction recognition is not atypical in adults with autism. Taken together with the previous behavioral evidence, our study thus suggests that individuals with autism are able to recognize social interactions, but that they might not extract the same information from those interactions or that they might use the extracted information differently.

Lien vers le texte intégral (Open Access ou abonnement)

19. Ortiz Rubio A, de María Romero Ayuso DN, Torres Sánchez I, Cabrera Martos I, Rodríguez Torres J, López López L, Valenza MC. Pain Experiences of People Diagnosed With Autism Spectrum Disorder: A Systematic Review of Case-Control Studies. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Autism spectrum disorder (ASD) is one of the most prevalent neurodevelopmental disorders and is characterized by compromised social interactions, reduced verbal communication, stereotyped repetitive behaviors, restricted interests, and sensory abnormalities. Yet absent from the knowledge base is information about sensory abnormalities related to pain experiences. Exploring the pain experiences of people with ASD may provide occupational therapy practitioners with a baseline to determine areas of need and effective interventions. OBJECTIVE: To conduct a systematic review of the literature to summarize current evidence from case-control studies comparing sensory abnormalities with regard to pain experiences of people diagnosed and not diagnosed with ASD. DATA SOURCES: A systematic literature search of the CINAHL, Cochrane, MEDLINE (PubMed), OTseeker, and Web of Science databases, using MeSH terms and broad keywords. STUDY SELECTION AND DATA COLLECTION: A search was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. The Newcastle-Ottawa Scale was used to evaluate the risk of bias of the included studies. FINDINGS: A total of 27 case-control studies involving 865 people with ASD and 864 control participants were included. Several methods were used to explore pain experiences, such as threshold detection or pain threshold. CONCLUSION AND RELEVANCE: The results indicate that people with ASD may have an abnormal sensory experience with regard to pain sensitivity. Occupational therapy practitioners should develop an intervention to focus on pain. What This Article Adds: This study adds to the body of literature indicating that people with ASD have sensory abnormalities with regard to pain experiences. Results highlight the need for occupational therapy interventions to focus on pain experiences.

Lien vers le texte intégral (Open Access ou abonnement)

20. Özbaran NB, Erbasan Z, Balki HG, Gökşen Şimşek RD. Is Bariatric Surgery an Option for Obesity in Autism Spectrum Disorder?: A Case Report. The Journal of nervous and mental disease. 2023; 211(5): 407-10.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and interaction, stereotypical behaviors, and restricted interests or activities present during early periods of development. Obesity, which is an important public health problem, is also becoming a serious problem in individuals with ASD. In this case report, we aimed to represent the multidisciplinary medical and psychiatric treatment of a 16-year-old adolescent with ASD and obesity who was consulted for bariatric surgery.

Lien vers le texte intégral (Open Access ou abonnement)

21. Płatos M, Wojaczek K, Laugeson EA. Fostering Friendship and Dating Skills Among Adults on the Autism Spectrum: A Randomized Controlled Trial of the Polish Version of the PEERS® for Young Adults Curriculum. Journal of autism and developmental disorders. 2023: 1-16.

PEERS(®) for Young Adults is an evidence-based program aimed at teaching social skills needed to establish and maintain close relationships, including friendship and romantic relationships. The study investigated the effects of the Polish adaptation of the curriculum on the social functioning of adults on the autism spectrum. Fifteen young adults (aged 18-32, M = 23.5) were randomly allocated to an immediate or delayed (control) treatment condition. By self and parent report, individuals who participated in the PEERS(®) program showed significant improvements in social skills, social cognition, and social knowledge, but limited gains in social engagement. The effects were maintained over six months after the treatment. The intervention was well-accepted and deemed feasible by young adults, their parents, and peers involved in the program.

Lien vers le texte intégral (Open Access ou abonnement)

22. Reich K, Dalferth M. [From the Placement Paradigm to Sustainable Support of Companies in the Integration of People with High-Functioning Autism – Results of an Employer Survey]. Die Rehabilitation. 2023.

As part of the AUT-1A project, 123 employers were surveyed by questionnaires about their experiences with the employment of autistic employees. The aim was to identify the factors that promote and hinder employment. The study indicates that the vocational qualification in vocational training centers (BBW) has a positive effect on sustainable employment of people with autism spectrum diagnosis (ASD), but the support for companies is not sufficient yet. Also, a lack of education regarding autism-friendly environmental design as well as a lack of education about the diagnosis autism of the direct colleagues could be worked out.

Lien vers le texte intégral (Open Access ou abonnement)

23. Reyes ZMD, Lynch E, Henry J, De Simone LM, Sobotka SA. Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report. BMC medical genomics. 2023; 16(1): 78.

BACKGROUND: Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa-levodopa, a synthetic form of dopamine typically used in Parkinson’s disease, and are considered to have dopa-responsive THD. THD has been found in 0.5-1 per million persons, although due to overlapping symptoms with other disorders and the need for genetic testing, prevalence is likely underestimated. Existing literature describes some patients with THD having intellectual disability, but comorbid autism spectrum disorder (ASD) has not been reported. CASE PRESENTATION: A nearly 3-year-old boy was referred to pediatric neurology due to hypotonia, delayed motor milestones, and expressive speech delay. Whole exome sequencing confirmed tyrosine hydroxylase deficiency, detecting a novel variant p.S307C first reported here. The child was treated with carbidopa-levodopa with an excellent response, resulting in improved balance, fewer falls, and improved ability to jump, run and climb stairs. He was determined to have dopa-responsive THD. Due to his delays in expressive speech, the boy also had an assessment with a developmental and behavioral pediatrician, who identified a pattern of social pragmatic speech delay, sensory sensitivities, and restricted interests, and determined that he met criteria for a diagnosis of ASD. CONCLUSIONS: While ASD can stand alone as a clinical diagnosis, it is also a cardinal feature of other genetically-based neurological disorders. To our knowledge, this is the first case that describes a patient with both disorders. Perhaps THD may be among the genetic disorders linked with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

24. Rogers JP, Oldham MA, Fricchione G, Northoff G, Ellen Wilson J, Mann SC, Francis A, Wieck A, Elizabeth Wachtel L, Lewis G, Grover S, Hirjak D, Ahuja N, Zandi MS, Young AH, Fone K, Andrews S, Kessler D, Saifee T, Gee S, Baldwin DS, David AS. Evidence-based consensus guidelines for the management of catatonia: Recommendations from the British Association for Psychopharmacology. Journal of psychopharmacology (Oxford, England). 2023; 37(4): 327-69.

The British Association for Psychopharmacology developed an evidence-based consensus guideline on the management of catatonia. A group of international experts from a wide range of disciplines was assembled. Evidence was gathered from existing systematic reviews and the primary literature. Recommendations were made on the basis of this evidence and were graded in terms of their strength. The guideline initially covers the diagnosis, aetiology, clinical features and descriptive epidemiology of catatonia. Clinical assessments, including history, physical examination and investigations are then considered. Treatment with benzodiazepines, electroconvulsive therapy and other pharmacological and neuromodulatory therapies is covered. Special regard is given to periodic catatonia, malignant catatonia, neuroleptic malignant syndrome and antipsychotic-induced catatonia. There is attention to the needs of particular groups, namely children and adolescents, older adults, women in the perinatal period, people with autism spectrum disorder and those with certain medical conditions. Clinical trials were uncommon, and the recommendations in this guideline are mainly informed by small observational studies, case series and case reports, which highlights the need for randomised controlled trials and prospective cohort studies in this area.

Lien vers le texte intégral (Open Access ou abonnement)

25. Schwartzman JM, Muscatello RA, Corbett BA. Assessing suicidal thoughts and behaviors and nonsuicidal self-injury in autistic and non-autistic early adolescents using the Columbia Suicide Severity Rating Scale. Autism : the international journal of research and practice. 2023: 13623613231162154.

Autistic adolescents are more likely to experience suicidal thoughts and behaviors and nonsuicidal self-injury than non-autistic adolescents, per caregiver- and self-report on single-item questionnaires. Comprehensive, clinician-rated measures of suicide risk have not been used to measure suicidal thoughts and behaviors and nonsuicidal self-injury in autistic youth despite greater parent-child rating discrepancies among autistic youth than their non-autistic peers. The Columbia Suicide Severity Rating Scale is a widely used, clinician-rated measure of suicide risk that has not been tested with autistic youth. In this study, the Columbia Suicide Severity Rating Scale was employed to assess suicidal thoughts and behaviors and nonsuicidal self-injury in a community sample of 239 early adolescents (10:0-13:9 years old), of whom 138 youth were autistic and 101 were not autistic. Multiple analyses examined diagnostic (autistic vs non-autistic) and sex-based (male vs female) differences in suicidal thoughts and behaviors and nonsuicidal self-injury, as well as youth consistency in reporting across self- and clinician-rated measures. Findings show that a greater proportion of autistic youth reported lifetime suicidal thoughts and nonsuicidal self-injury than non-autistic youth; however, there were no sex-based differences. The majority of non-autistic youth were consistent in reporting suicidal thoughts on self- and clinician-rated measures; however, nearly one in five autistic youth disclosed suicidal thoughts on a self-report measure but not to a psychiatrist on the Columbia Suicide Severity Rating Scale. Findings suggest that autism diagnostic status, but not sex, confers significant risk for suicidal thoughts and behaviors and nonsuicidal self-injury in early adolescents and that the Columbia Suicide Severity Rating Scale may be a useful measure of suicide risk for some autistic youth, but it may not detect all autistic youth experiencing suicidal thoughts.

Lien vers le texte intégral (Open Access ou abonnement)

26. Simeone PJ, Schlosser RW, Frampton SE, Shane HC, Wendt O. Miniature Linguistic Systems for Individuals With Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Journal of speech, language, and hearing research : JSLHR. 2023: 1-24.

PURPOSE: Miniature linguistic systems (also known as matrix training) is a method of organizing learning targets to achieve generative learning or recombinative generalization. This systematic review is aimed at determining whether matrix training is effective for individuals with autism spectrum disorder (ASD) in terms of improving recombinative generalization for instruction-following, expressive language, play skills, and literacy skills. METHOD: A systematic review methodology was employed to limit bias in the various review stages. A multifaceted search was conducted. Potential primary studies were imported into Covidence, a systematic review software, and inclusion criteria were applied. Data were extracted regarding (a) participant characteristics, (b) matrix designs, (c) intervention methods, and (d) dependent variable. A quality appraisal using the What Works Clearinghouse (WWC) Single-Case Design Standards (Version 1.0, Pilot) was carried out. In addition to the visual analysis of the data, an effect size estimate, non-overlap of all pairs (NAP), was generated for each participant. Independent t tests and between-subjects analyses of variance were conducted to identify moderators of effectiveness. RESULTS: Twenty-six studies including 65 participants met criteria for inclusion. All included studies were single-case experimental designs. Eighteen studies received a rating of Meets Standards Without Reservations or Meets Standards With Reservations. The aggregated combined NAP scores for acquisition, recombinative generalization, and maintenance of a range of outcomes were in the high range. CONCLUSIONS: Findings suggested that matrix training is an effective teaching method for individuals with ASD for acquisition, recombinative generalization, and maintenance of a range of outcomes. Statistical analyses to identify moderators of effectiveness were insignificant. Based on the WWC Single-Case Design Standards matrix training meets criteria to be considered an evidence-based practice for individuals with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

27. Spielmann V, Burke HK, McCulloch S, Mason A, Lane SJ. Linking Sensory Integration and Processing With Mental Health in Autism: A Retrospective Review of Survey Data. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2023; 77(2).

IMPORTANCE: Although a central tenet of occupational therapy practice, evidence-based practice is at times overrepresented by research and can overlook the contributions of clinical expertise, the lived experience, and context. This survey affords the occupational therapy practitioner the opportunity to understand sensory integration and processing (SI/P) as experienced by autistic adults. OBJECTIVE: To explore the following research question through a retrospective analysis of an internet-based survey: What is the relationship between the SI/P differences and mental health concerns reported by autistic adults? DESIGN: Nonexperimental; retrospective analysis of data collected from September 2018 through June 2019. The analysis team joined the project after the survey had been launched. SETTING: The Grand Sensory Survey (GSS) was available internationally through the websites and social media accounts of the Autistic Empire and STAR Institute for Sensory Processing. PARTICIPANTS: The sample included 440 total responses. Excluding responses from participants ages ≤18 yr (n = 24), 416 responses were included: n = 189 identified as autistic, n = 147 identified as nonautistic, and n = 80 did not provide a response to this query. OUTCOMES AND MEASURES: The GSS included questions about demographics, mental health, and sensory experiences. RESULTS: Both SI/P disruptions and sensory sensitivity predicted anxiety and depression (p < .001). CONCLUSIONS AND RELEVANCE: Differences in SI/P are significant factors in mental health for autistic adults. What This Article Adds: We implicate multiple aspects of SI/P and their influence on mental health among autistic adults. The autistic-led design of the survey ensures representation of issues that are pivotal to the autistic community, broadening the template for aspects of SI/P that should be considered when looking at client factors in autism and influence on function and participation. Positionality Statement: The authors deliberately use identity first language in keeping with requests from the autistic community (see https://autisticadvocacy.org/about-asan/identity-first-language/). This language is favored by autistic communities and self-advocates and has been adopted by health care professionals and researchers (Bottema-Beutel et al., 2021; Kenny et al., 2016). This article is written from the perspective of the social model of disability and a neurodiversity affirming frame of reference. Three of the five authors are autistic.

Lien vers le texte intégral (Open Access ou abonnement)

28. Tobe R, Zhu Y, Gleissl T, Rossomanno S, Veenstra-VanderWeele J, Smith J, Hollander E. Predictors of placebo response in three large clinical trials of the V1a receptor antagonist balovaptan in autism spectrum disorder. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2023.

High rates of placebo response are increasingly implicated in failed autism spectrum disorder (ASD) clinical trials. Despite this, there are limited investigations of placebo response in ASD. We sought to identify baseline predictors of placebo response and quantify their influence on clinical scales of interest for three harmonized randomized clinical trials of balovaptan, a V1a receptor antagonist. We employed a two-step approach to identify predictors of placebo response on the Vineland-II two-domain composite (2DC) (primary outcome and a caregiver measure) and Clinical Global Impression (CGI) scale (secondary outcome and a clinician measure). The initial candidate predictor set of variables pertained to participant-level, site-specific, and protocol-related factors. Step 1 aimed to identify influential predictors of placebo response using Least Absolute Shrinkage and Selection Operator (LASSO) regression, while Step 2 quantified the influence of predictors via linear regression. Results were validated through statistical bootstrapping approaches with 500 replications of the analysis dataset. The pooled participant-level dataset included individuals with ASD aged 5 to 62 years (mean age 21 [SD 10]), among which 263 and 172 participants received placebo at Weeks 12 and 24, respectively. Although no influential predictors were identified for CGI, findings for Vineland-II 2DC are robust and informative. Decreased placebo response was predicted by higher baseline Vineland-II 2DC (i.e., more advanced adaptive function), longer trial duration, and European (vs United States) sites, while increased placebo response was predicted by commercial (vs academic) sites, attention deficit hyperactivity disorder and depression. Identification of these factors may be useful in anticipating and mitigating placebo response in drug development efforts in ASD and across developmental and psychiatric conditions.

Lien vers le texte intégral (Open Access ou abonnement)

29. Vakilzadeh G, Martinez-Cerdeño V. Pathology and Astrocytes in Autism. Neuropsychiatric disease and treatment. 2023; 19: 841-50.

A distinct pathology for autism spectrum disorder (ASD) remains elusive. Human and animal studies have focused on investigating the role of neurons in ASD. However, recent studies have hinted that glial cell pathology could be a characteristic of ASD. Astrocytes are the most abundant glial cell in the brain and play an important role in neuronal function, both during development and in adult. They regulate neuronal migration, dendritic and spine development, and control the concentration of neurotransmitters at the synaptic cleft. They are also responsible for synaptogenesis, synaptic development, and synaptic function. Therefore, any change in astrocyte number and/or function could contribute to the impairment of connectivity that has been reported in ASD. Data available to date is scarce but indicates that while the number of astrocytes is reduced, their state of activation and their GFAP expression is increased in ASD. Disruption of astrocyte function in ASD may affect proper neurotransmitter metabolism, synaptogenesis, and the state of brain inflammation. Astrocytes alterations are common to ASD and other neurodevelopmental disorders. Future studies about the role of astrocytes in ASD are required to better understand this disorder.

Lien vers le texte intégral (Open Access ou abonnement)

30. Valori I, Carnevali L, Farroni T. Agency and reward across development and in autism: A free-choice paradigm. PloS one. 2023; 18(4): e0284407.

Our ability to perform voluntary actions and make choices is shaped by the motivation from control over the resulting effects (agency) and from positive outcomes (reward). The underlying action-outcome binding mechanisms rely on sensorimotor abilities that specialise through child development and undergo different trajectories in autism. The study aimed at disentangling the role of agency and reward in driving action selection of autistic and non-autistic children and adults, who were asked to freely select one of three candies and feed the animals appearing on a tablet. The candies were associated with different probabilities of delivering a neutral vs no effect (agency task), or a positive vs neutral effect (reward task). Choices and reaction times (RT) were measured to understand whether participants preferred and were faster at selecting options with higher probability of producing a neutral vs. no effect (agency) or a positive vs. neutral effect (reward). Participants’ choices and RT were not affected by agency, whereas a more frequent selection of the option with higher probability of a positive vs. neutral effect emerged across groups, thus suggesting a reward effect. Autistic participants selected less frequently the option with chance level of receiving a neutral or no effect, which could be interpreted as a sign of reduced tolerance of uncertainty. Across tasks, conditions and age groups, autistic participants presented shorter RT, which is a marker of reduced action planning and control. Future research should deepen how tolerance of uncertainty, action planning and control impact the way autistic individuals make choices in everyday life situations, potentially contributing to restricted and repetitive behaviours.

Lien vers le texte intégral (Open Access ou abonnement)

31. Zhang J, Ji G, Gao X, Guan J. Single-nucleus gene and gene set expression-based similarity network fusion identifies autism molecular subtypes. BMC bioinformatics. 2023; 24(1): 142.

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is highly phenotypically and genetically heterogeneous. With the accumulation of biological sequencing data, more and more studies shift to molecular subtype-first approach, from identifying molecular subtypes based on genetic and molecular data to linking molecular subtypes with clinical manifestation, which can reduce heterogeneity before phenotypic profiling. RESULTS: In this study, we perform similarity network fusion to integrate gene and gene set expression data of multiple human brain cell types for ASD molecular subtype identification. Then we apply subtype-specific differential gene and gene set expression analyses to study expression patterns specific to molecular subtypes in each cell type. To demonstrate the biological and practical significance, we analyze the molecular subtypes, investigate their correlation with ASD clinical phenotype, and construct ASD molecular subtype prediction models. CONCLUSIONS: The identified molecular subtype-specific gene and gene set expression may be used to differentiate ASD molecular subtypes, facilitating the diagnosis and treatment of ASD. Our method provides an analytical pipeline for the identification of molecular subtypes and even disease subtypes of complex disorders.

Lien vers le texte intégral (Open Access ou abonnement)