1. Clin E, Kissine M. Listener- Versus Speaker-Oriented Disfluencies in Autistic Adults: Insights From Wearable Eye-Tracking and Skin Conductance Within a Live Face-to-Face Paradigm. Journal of speech, language, and hearing research : JSLHR. 2023: 1-19.

PURPOSE: Our study addresses three main questions: (a) Do autistics and neurotypicals produce different patterns of disfluencies, depending on the experimenter’s direct versus averted gaze? (b) Are these patterns correlated to gender, skin conductance responses, fixations on the experimenter’s face, alexithymia, or social anxiety scores? Lastly, (c) can eye-tracking and electrodermal activity data be used in distinguishing listener- versus speaker-oriented disfluencies? METHOD: Within a live face-to-face paradigm combining a wearable eye-tracker with electrodermal activity sensors, 80 adults (40 autistics, 40 neurotypicals) defined words in front of an experimenter who was either staring at their eyes (direct gaze condition) or looking elsewhere (averted gaze condition). RESULTS: Autistics produce less listener-oriented (uh, um) and more speaker-oriented (prolongations, breath) disfluencies than neurotypicals. In both groups, men produce less um than women. Both autistics’ and neurotypicals’ speech are influenced by whether their interlocutor systematically looks at them in the eyes or not, but their reactions go in opposite directions. Disfluencies seem to primarily be linguistic phenomena as experienced stress, social attention, alexithymia, and social anxiety scores do not influence any of the reported results. Finally, eye-tracking and electrodermal activity data suggest that laughter could be a listener-oriented disfluency. CONCLUSIONS: This article studies disfluencies in a fine-grained way in autistic and neurotypical adults while controlling for social attention, experienced stress, and experimental condition (direct vs. averted gaze). It adds to current literature by (a) enlightening our knowledge of speech in autism, (b) opening new perspectives on disfluency patterns as important signals in social interaction, (c) addressing theoretical issues on the dichotomy between listener- and speaker-oriented disfluencies, and (d) considering understudied phenomena as potential disfluencies (e.g., laughter, breath). SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.23549550.

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2. Cundari M, Vestberg S, Gustafsson P, Gorcenco S, Rasmussen A. Neurocognitive and cerebellar function in ADHD, autism and spinocerebellar ataxia. Frontiers in systems neuroscience. 2023; 17: 1168666.

The cerebellum plays a major role in balance, motor control and sensorimotor integration, but also in cognition, language, and emotional regulation. Several neuropsychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), autism spectrum disorder (ASD), as well as neurological diseases such as spinocerebellar ataxia type 3 (SCA3) are associated with differences in cerebellar function. Morphological abnormalities in different cerebellar subregions produce distinct behavioral symptoms related to the functional disruption of specific cerebro-cerebellar circuits. The specific contribution of the cerebellum to typical development may therefore involve the optimization of the structure and function of cerebro-cerebellar circuits underlying skill acquisition in multiple domains. Here, we review cerebellar structural and functional differences between healthy and patients with ADHD, ASD, and SCA3, and explore how disruption of cerebellar networks affects the neurocognitive functions in these conditions. We discuss how cerebellar computations contribute to performance on cognitive and motor tasks and how cerebellar signals are interfaced with signals from other brain regions during normal and dysfunctional behavior. We conclude that the cerebellum plays a role in many cognitive functions. Still, more clinical studies with the support of neuroimaging are needed to clarify the cerebellum’s role in normal and dysfunctional behavior and cognitive functioning.

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3. Dibble KE, Lutz TM, Connor AE, Bruder MB. Breast and Ovarian Cancer Among Women with Intellectual and Developmental Disabilities: An Agenda for Improving Research and Care. Women’s health issues : official publication of the Jacobs Institute of Women’s Health. 2023.

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4. Elhawary NA, AlJahdali IA, Abumansour IS, Azher ZA, Falemban AH, Madani WM, Alosaimi W, Alghamdi G, Sindi IA. Phenotypic variability to medication management: an update on fragile X syndrome. Human genomics. 2023; 17(1): 60.

This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome’s variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is approximately 1 in 5000-7000 men and 1 in 4000-6000 women worldwide. FXS is associated with the fragile X messenger ribonucleoprotein 1 (FMR1) gene located at locus Xq27.3 and encodes the fragile X messenger ribonucleoprotein (FMRP). Most individuals with FXS have an FMR1 allele with > 200 CGG repeats (full mutation) and hypermethylation of the CpG island proximal to the repeats, which silences the gene’s promoter. Some individuals have mosaicism in the size of the CGG repeats or in hypermethylation of the CpG island, both produce some FMRP and give rise to milder cognitive and behavioral deficits than in non-mosaic individuals with FXS. As in several monogenic disorders, modifier genes influence the penetrance of FMR1 mutations and FXS’s variable expressivity by regulating the pathophysiological mechanisms related to the syndrome’s behavioral features. Although there is no cure for FXS, prenatal molecular diagnostic testing is recommended to facilitate early diagnosis. Pharmacologic agents can reduce some behavioral features of FXS, and researchers are investigating whether gene editing can be used to demethylate the FMR1 promoter region to improve patient outcomes. Moreover, clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 and developed nuclease defective Cas9 (dCas9) strategies have promised options of genome editing in gain-of-function mutations to rewrite new genetic information into a specified DNA site, are also being studied.

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5. Golos A, Vidislavski S, Anaby D. Participation Patterns of Israeli Children with and without Autism, and the Impact of Environment. Physical & occupational therapy in pediatrics. 2023: 1-18.

AIMS: Participation is vital to children’s quality of life, yet it is often limited for those with autism spectrum disorder (ASD). An improved understanding of the factors that may support or hinder their participation is important. This study aims to explore the participation patterns of children with and without ASD in the home, school, and community settings, as well as to explore the impact of environmental factors on the participation of children with ASD. METHODS: 78 parents of children aged 6-12, attending mainstream educational settings (30 with ASD; 48 without ASD) completed the Participation and Environment Measure for Children and Youth and a demographic questionnaire. RESULTS: Children with ASD were rated significantly lower than children without ASD in participation, and their parents expressed a greater desire to change their participation while reporting lower overall environmental support. Among the ASD group, significant differences in participation were found across the three settings, with the highest participation scores at home. Environmental factors that support or limit children’s participation were identified. CONCLUSIONS: The results highlight the importance of environmental factors in children’s participation. It is essential to evaluate different environmental settings; identifying the supportive and limiting environmental factors will enhance interventions for children with ASD.

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6. Hirano D, Goto Y, Shoji H, Taniguchi T. Relationship between hand stereotypies and purposeful hand use and factors causing skin injuries and joint contractures in individuals with Rett syndrome. Early human development. 2023; 183: 105821.

BACKGROUND: Skin injuries and joint contractures in the upper limbs are observed in approximately 50 % of individuals with Rett syndrome, respectively. AIMS: To investigate the relationship between stereotypic hand movements and purposeful hand skills, items related to these, and factors that cause upper extremity skin injuries and joint contractures in individuals with Rett syndrome. STUDY DESIGN: We conducted a cross-sectional observational study in 2020 with families belonging to either of the two largest Rett syndrome organizations in Japan. SUBJECTS: In 2020, we sent a questionnaire to 194 Japanese families. OUTCOME MEASURES: We used descriptive statistics to indicate frequency in each question. We analysed the association between hand stereotypies and purposeful hand use, their associations with each questionnaire item, and the relationship between the occurrence of skin injuries and joint contractures. RESULTS: We acquired information from 72 cases. We found correlations between stereotypy frequency with reaching and between purposeful hand use with intellectual development grade and hand function. Hand and finger skin injuries and elbow and finger joint contractures were associated with wringing/washing, grasping, locomotion, reaching, and intellectual development grade. We identified cut-off points for the occurrence of elbow and finger joint contractures of 10 years 6 months, ability to roll over, finger feeds only, and understanding of simple words. CONCLUSIONS: Direct interventions can reduce hand stereotypies and increase purposeful hand use, while related items can be addressed with indirect interventions. Evaluations of factors that cause skin injuries and joint contractures can prevent their occurrence.

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7. Hussein Y, Tripathi U, Choudhary A, Nayak R, Peles D, Rosh I, Rabinski T, Djamus J, Vatine GD, Spiegel R, Garin-Shkolnik T, Stern S. Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations. Translational psychiatry. 2023; 13(1): 246.

Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of genetic variants were reported to be highly penetrant and causative of ASD. Many of these mutations cause comorbidities such as epilepsy and intellectual disabilities (ID). In this study, we measured cortical neurons derived from induced pluripotent stem cells (iPSCs) of patients with four mutations in the genes GRIN2B, SHANK3, UBTF, as well as chromosomal duplication in the 7q11.23 region and compared them to neurons derived from a first-degree relative without the mutation. Using a whole-cell patch-clamp, we observed that the mutant cortical neurons demonstrated hyperexcitability and early maturation compared to control lines. These changes were characterized by increased sodium currents, increased amplitude and rate of excitatory postsynaptic currents (EPSCs), and more evoked action potentials in response to current stimulation in early-stage cell development (3-5 weeks post differentiation). These changes that appeared in all the different mutant lines, together with previously reported data, indicate that an early maturation and hyperexcitability may be a convergent phenotype of ASD cortical neurons.

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8. Life B, Bettio LEB, Gantois I, Christie BR, Leavitt BR. Progranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome. Current research in neurobiology. 2023; 5: 100094.

A growing body of evidence has implicated progranulin in neurodevelopment and indicated that aberrant progranulin expression may be involved in neurodevelopmental disease. Specifically, increased progranulin expression in the prefrontal cortex has been suggested to be pathologically relevant in male Fmr1 knockout (Fmr1 KO) mice, a mouse model of Fragile X Syndrome (FXS). Further investigation into the role of progranulin in FXS is warranted to determine if therapies that reduce progranulin expression represent a viable strategy for treating patients with FXS. Several key knowledge gaps remain. The mechanism of increased progranulin expression in Fmr1 KO mice is poorly understood and the extent of progranulin’s involvement in FXS-like phenotypes in Fmr1 KO mice has been incompletely explored. To this end, we have performed a thorough characterization of progranulin expression in Fmr1 KO mice. We find that the phenomenon of increased progranulin expression is post-translational and tissue-specific. We also demonstrate for the first time an association between progranulin mRNA and FMRP, suggesting that progranulin mRNA is an FMRP target. Subsequently, we show that progranulin over-expression in Fmr1 wild-type mice causes reduced repetitive behaviour engagement in females and mild hyperactivity in males but is largely insufficient to recapitulate FXS-associated behavioural, morphological, and electrophysiological abnormalities. Lastly, we determine that genetic reduction of progranulin expression on an Fmr1 KO background reduces macroorchidism but does not alter other FXS-associated behaviours or biochemical phenotypes.

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9. Lockard BS, Dallara M, O’Malley C. A Short Report on the Impact of Judo on Behaviors and Social Skills of Children With Autism Spectrum Disorder. Cureus. 2023; 15(7): e41516.

INTRODUCTION: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by communication difficulty and social deficits. The current treatment employs the use of psychosocial therapy and medication as well as alternative treatments. This is a pilot study that assessed whether participation in judo improved behavior and social skills in children with ASD. METHODS: Twenty-four students from the Riverside Youth Judo Club were included in the study, after obtaining consent from their parents to participate. Inclusion criteria included participation in judo classes for more than one month and diagnosis of ASD and/or a developmental disability. Parent(s) of the children signed a consent form, filled out a study questionnaire and completed the Social Skills Improvement System Social-Emotional Learning Edition, Parent Form (SSIS-SEL). Parents also had the opportunity to volunteer their child’s baseline SSIS-SEL assessment. SSIS-SEL data was taken for four participants and compared to the baseline. RESULTS: In the study questionnaire, 62.5% of parents agreed that their children demonstrated improvement across all six categories. The category with the greatest improvement was ‘Behavior at home’, while the category with the least improvement was ‘Eye contact’. CONCLUSION: While the direct impact of judo on special needs children was difficult to assess due to variability in abilities and developmental milestones, we hope that improving awareness regarding the effectiveness of youth sports would impact the long-term quality of life for children with any developmental or mental disability and may help improve their social and behavioral skills in multiple environments.

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10. Rivard M, Morin M, Rochefort C, Morin D, Mello C. Barriers and facilitators to accessibility, continuity, validity, flexibility, and provider-family relationship along the diagnostic pathway in developmental disabilities. Research in developmental disabilities. 2023; 139: 104570.

BACKGROUND: Parents of children with developmental disabilities must navigate a complex network to obtain a diagnosis and interventions for their child. However, their subjective experience of this journey has yet to be analyzed through the lens of a theorical framework that could support research, organizational program evaluation, and facilitate providers’ reflection on how to enhance families’ diagnostic services trajectory. AIMS: This study sought to examine the diagnostic journey as experienced by 77 parents whose children were recently diagnosed with developmental disabilities (e.g., autism, intellectual disability) in the metropolitan area of Montréal, Québec (Canada). METHODS AND PROCEDURES: A mixed qualitative content analysis approach was used to describe their perspective on barriers and facilitators in reference to the five dimensions of the Evaluation of the Trajectory Autism for Parents (ETAP) model (Rivard et al., 2020): accessibility, continuity, validity, flexibility, and provider-family relationship. OUTCOMES AND RESULTS: The barriers and facilitators related to systemic factors identified by parents were consistent with the five dimensions outlined by the ETAP model. However, beyond these characteristics of the service delivery system, parents additionally identified their own, personal facilitators CONCLUSIONS AND IMPLICATIONS: This study supports the relevance of the ETAP framework to understanding the experience of families seeking a diagnosis. It also reinforces the potential contributions of this model to organize extant and future research as well as structure program evaluation and improvements.

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11. Rodnyy AY, Kondaurova EM, Tsybko AS, Popova NK, Kudlay DA, Naumenko VS. The brain serotonin system in autism. Reviews in the neurosciences. 2023.

Autism spectrum disorders (ASDs) are among the most common neurodevelopmental diseases. These disorders are characterized by lack of social interaction, by repetitive behavior, and often anxiety and learning disabilities. The brain serotonin (5-HT) system is known to be crucially implicated in a wide range of physiological functions and in the control of different kinds of normal and pathological behavior. A growing number of studies indicate the involvement of the brain 5-HT system in the mechanisms underlying both ASD development and ASD-related behavioral disorders. There are some review papers describing the role of separate key players of the 5-HT system in an ASD and/or autistic-like behavior. In this review, we summarize existing data on the participation of all members of the brain 5-HT system, namely, 5-HT transporter, tryptophan hydroxylase 2, MAOA, and 5-HT receptors, in autism in human and various animal models. Additionally, we describe the most recent studies involving modern techniques for in vivo regulation of gene expression that are aimed at identifying exact roles of 5-HT receptors, MAOA, and 5-HT transporter in the mechanisms underlying autistic-like behavior. Altogether, results of multiple research articles show that the brain 5-HT system intimately partakes in the control of some types of ASD-related behavior, and that specific changes in a function of a certain 5-HT receptor, transporter, and/or enzyme may normalize this aberrant behavior. These data give hope that some of clinically used 5-HT-related drugs have potential for ASD treatment.

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12. Shen Y, Pang G. Electrocardiography in children with autism. Asian journal of surgery. 2023.

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13. Shorey-Kendrick LE, Roberts VHJ, D’Mello RJ, Sullivan EL, Murphy SK, McCarty OJT, Schust DJ, Hedges JC, Mitchell AJ, Terrobias JJD, Easley CAt, Spindel ER, Lo JO. Prenatal delta-9-tetrahydrocannabinol exposure is associated with changes in rhesus macaque DNA methylation enriched for autism genes. Clinical epigenetics. 2023; 15(1): 104.

BACKGROUND: With the growing availability of cannabis and the popularization of additional routes of cannabis use beyond smoking, including edibles, the prevalence of cannabis use in pregnancy is rapidly increasing. However, the potential effects of prenatal cannabis use on fetal developmental programming remain unknown. RESULTS: We designed this study to determine whether the use of edible cannabis during pregnancy is deleterious to the fetal and placental epigenome. Pregnant rhesus macaques consumed a daily edible containing either delta-9-tetrahydrocannabinol (THC) (2.5 mg/7 kg/day) or placebo. DNA methylation was measured in 5 tissues collected at cesarean delivery (placenta, lung, cerebellum, prefrontal cortex, and right ventricle of the heart) using the Illumina MethylationEPIC platform and filtering for probes previously validated in rhesus macaque. In utero exposure to THC was associated with differential methylation at 581 CpGs, with 573 (98%) identified in placenta. Loci differentially methylated with THC were enriched for candidate autism spectrum disorder (ASD) genes from the Simons Foundation Autism Research Initiative (SFARI) database in all tissues. The placenta demonstrated greatest SFARI gene enrichment, including genes differentially methylated in placentas from a prospective ASD study. CONCLUSIONS: Overall, our findings reveal that prenatal THC exposure alters placental and fetal DNA methylation at genes involved in neurobehavioral development that may influence longer-term offspring outcomes. The data from this study add to the limited existing literature to help guide patient counseling and public health polices focused on prenatal cannabis use in the future.

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14. Unwin KL, Powell G, Price A, Jones CR. Patterns of equipment use for autistic children in multi-sensory environments: Time spent with sensory equipment varies by sensory profile and intellectual ability. Autism : the international journal of research and practice. 2023: 13623613231180266.

Multi-sensory environments, often called sensory rooms, are widely used with autistic children. However, we know very little about how autistic children choose to spend their time in multi-sensory environments. We also do not know how their equipment preferences relate to their individual characteristics such as their sensory differences, level of ability or general autistic behaviours. We measured the frequency and duration of visits to multi-sensory environment equipment of 41 autistic children during 5 min of free play. The bubble tube and touch, sound and light board were both highly popular, with the fibre optics and tactile board receiving less attention. The children displayed significantly more sensory seeking behaviours in the multi-sensory environment than sensory-defensive behaviours. These sensory seeking behaviours, as well as the sensory behaviours that their parents reported they showed in daily life, were associated with specific patterns of multi-sensory environment equipment use. Non-verbal ability was also associated with multi-sensory environment equipment use, but broader autistic behaviours were not. Our findings show that the multi-sensory environment equipment preferences of autistic children are related to individual differences in sensory behaviours and non-verbal ability. This information could be useful for teachers and other practitioners who want to know how best to use multi-sensory environments with autistic children.

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15. Watanabe D, Watanabe T. Distinct frontoparietal brain dynamics underlying the co-occurrence of autism and ADHD. eNeuro. 2023.

Previous diagnostic systems precluded the co-existence of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in one person; but, after many clinical reports, such diagnostic criteria were updated to allow their co-occurrence. Despite such a clinical change, the neurobiological bases underpinning the comorbidity remain poorly understood, and whether the ASD+ADHD condition is a simple overlap of the two disorders is unknown. Here, to answer this question, we compared the brain dynamics of high-functioning ASD+ADHD children with age-/sex-/IQ-matched pure ASD, pure ADHD, and typically developing children. Regarding autistic traits, the socio-communicational symptom of the ASD+ADHD children was explained by the same over-stable brain dynamics as seen in pure ASD. In contrast, their ADHD-like traits were grounded on a unique neural mechanism that was unseen in pure ADHD: the core symptoms of pure ADHD were associated with the overly flexible whole-brain dynamics that were triggered by the unstable activity of the dorsal-attention network and the left parietal cortex; by contrast, the ADHD-like cognitive instability of the ASD+ADHD condition was correlated with the atypically frequent neural transition along a specific brain state pathway, which was induced by the atypically unstable activity of the frontoparietal control network and the left prefrontal cortex. These observations need to be validated in future studies using more direct and comprehensive behavioural indices, but the current findings suggest that the ASD+ADHD comorbidity is not a mere overlap of the two disorders. Particularly, its ADHD-like traits could represent a unique condition that would need a specific diagnosis and bespoke treatments.Significance statementChildren with autism spectrum disorder (ASD) have cognitive rigidity and tend to persist in specific thoughts, whereas those with ADHD exhibit overly flexible cognition and have trouble with concentration. Despite such contrast, clinically, the two neurodevelopmental disorders are often reported to co-exist in one person. How can such a co-occurrence happen? By investigating the global and local brain dynamics, this study found that the comorbidity of ASD and ADHD is not a simple overlap of the two conditions. Instead, the cognitive instability seen in ASD+ADHD children was underpinned by unique brain dynamics that were not observed in pure ADHD. These findings indicate that the comorbid condition would need a bespoke diagnosis and treatment.

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16. Xu S, Fan J, Zhang H, Zhang M, Zhao H, Jiang X, Ding H, Zhang Y. Hearing Assistive Technology Facilitates Sentence-in-Noise Recognition in Chinese Children With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2023: 1-21.

PURPOSE: Hearing assistive technology (HAT) has been shown to be a viable solution to the speech-in-noise perception (SPIN) issue in children with autism spectrum disorder (ASD); however, little is known about its efficacy in tonal language speakers. This study compared sentence-level SPIN performance between Chinese children with ASD and neurotypical (NT) children and evaluated HAT use in improving SPIN performance and easing SPIN difficulty. METHOD: Children with ASD (n = 26) and NT children (n = 19) aged 6-12 years performed two adaptive tests in steady-state noise and three fixed-level tests in quiet and steady-state noise with and without using HAT. Speech recognition thresholds (SRTs) and accuracy rates were assessed using adaptive and fixed-level tests, respectively. Parents or teachers of the ASD group completed a questionnaire regarding children’s listening difficulty under six circumstances before and after a 10-day trial period of HAT use. RESULTS: Although the two groups of children had comparable SRTs, the ASD group showed a significantly lower SPIN accuracy rate than the NT group. Also, a significant impact of noise was found in the ASD group’s accuracy rate but not in that of the NT group. There was a general improvement in the ASD group’s SPIN performance with HAT and a decrease in their listening difficulty ratings across all conditions after the device trial. CONCLUSIONS: The findings indicated inadequate SPIN in the ASD group using a relatively sensitive measure to gauge SPIN performance among children. The markedly increased accuracy rate in noise during HAT-on sessions for the ASD group confirmed the feasibility of HAT for improving SPIN performance in controlled laboratory settings, and the reduced post-use ratings of listening difficulty further confirmed the benefits of HAT use in daily scenarios.

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