1. Berry ASF, Finucane BM, Myers SM, Walsh LK, Seibert JM, Martin CL, Ledbetter DH, Oetjens MT. A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk. Nat Commun. 2024; 15(1): 8897.

A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ASD prevalence between the sexes. To address this knowledge gap, we examined sex chromosome aneuploidy in a large ASD case-control cohort to evaluate the relationship between X and Y chromosome dosage and ASD risk. From these data, we modeled three relationships between sex chromosome dosage and ASD risk: the extra Y effect, the extra X effect, and sex chromosome haploinsufficiency. We found that the extra Y effect increased ASD risk significantly more than the extra X effect. Among females, we observed a large association between 45, X and ASD, confirming sex chromosome haploinsufficiency as a strong ASD risk factor. These results provide a framework for understanding the relationship between X and Y chromosome dosage on ASD, which may inform future research investigating genomic contributors to the observed sex difference.

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2. Chaimaha N, Putthinoi S, Lersilp S, Chawawisuttikool J, Kummuang S, Hsu HY, Sung US. Development of Web-Based Learning Media on Behavior Management to Enhance Activities of Daily Living for Children with Autism Spectrum Disorder. Occup Ther Health Care. 2024: 1-18.

The aim of this project was to create an evidence-based learning media designed to address the behavior issues of children with Autism Spectrum Disorder (ASD) with activities of daily living. Composed of two phases, the first phase used eight school based occupational therapists identify the challenge with daily tasks and behavior management strategies for intervention. After the data was analyzed, the learning media was developed and reviewed by the therapists, content experts and 90 parents of autistic children. The web-based education consists of: 1) problems affecting the ADL performance of children with ASD: eating, tooth brushing, dressing, and sleeping divided between behavioral and sensory challenge and 2) behavior management strategies were identified to enhance the ADL performance of children with ASD and included sensory integration, environmental, and behavior modification. Parent perspectives revealed that the learning media were easily understandable and simple to use, with suitable font, size, and color of the text, as well as appropriate user interaction.

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3. Cho Y, Talboys SL. Trends in South Korean Medical Device Development for Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Narrative Review. JMIR Biomed Eng. 2024; 9: e60399.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are among the most prevalent mental disorders among school-aged youth in South Korea and may play a role in the increasing pressures on teachers and school-based special education programming. A lack of support for special education; tensions between teachers, students, and parents; and limited backup for teacher absences are common complaints among Korean educators. New innovations in technology to screen and treat ADHD and ASD may offer relief to students, parents, and teachers through earlier and efficient diagnosis; access to treatment options; and ultimately, better-managed care and expectations. OBJECTIVE: This narrative literature review provides an account of medical device use and development in South Korea for the diagnosis and management of ADHD and ASD and highlights research gaps. METHODS: A narrative review was conducted across 4 databases (PubMed, Korean National Assembly Library, Scopus, and PsycINFO). Journal articles, dissertations, and government research and development reports were included if they discussed medical devices for ADHD and ASD. Only Korean or English papers were included. Resources were excluded if they did not correspond to the research objective or did not discuss at least 1 topic about medical devices for ADHD and ASD. Journal articles were excluded if they were not peer reviewed. Resources were limited to publications between 2013 and July 22, 2024. RESULTS: A total of 1794 records about trends in Korean medical device development were categorized into 2 major groups: digital therapeutics and traditional therapy. Digital therapeutics resulted in 5 subgroups: virtual reality and artificial intelligence, machine learning and robot, gaming and visual contents, eye-feedback and movement intervention, and electroencephalography and neurofeedback. Traditional therapy resulted in 3 subgroups: cognitive behavioral therapy and working memory; diagnosis and rating scale; and musical, literary therapy, and mindfulness-based stress reduction. Digital therapeutics using artificial intelligence, machine learning, and electroencephalography technologies account for the biggest portions of development in South Korea, rather than traditional therapies. Most resources, 94.15% (1689/1794), were from the Korean National Assembly Library. CONCLUSIONS: Limitations include small sizes of populations to conclude findings in many articles, a lower number of articles discussing medical devices for ASD, and a majority of articles being dissertations. Emerging digital medical devices and those integrated with traditional therapies are important solutions to reducing the prevalence rates of ADHD and ASD in South Korea by promoting early diagnosis and intervention. Furthermore, their application will relieve pressures on teachers and school-based special education programming by providing direct supporting resources to students with ADHD or ASD. Future development of medical devices for ADHD and ASD is predicted to heavily rely on digital technologies, such as those that sense people’s behaviors, eye movement, and brainwaves.

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4. de Visser RO, Mosely R, Gamble-Turner J, Hull L, Sedgewick F, Featherstone C, Quint Obe C, Freeman E, Karavidas M. Unmet need for autism-aware care for gynaecological, menstrual and sexual wellbeing. Autism. 2024: 13623613241290628.

Autistic people often experience difficulties with healthcare, and are more likely than neurotypical people to have unmet healthcare needs. They may also be more likely to find menstruation and menopause more difficult than neurotypical women. Healthcare professionals (HCPs) often have insufficient training and support to work with autistic adults, and they often lack the skills or confidence to discuss reproductive and sexual health (RSH) with patients. When these two issues are combined, it would appear that autistic people may experience particular difficulties when seeking RSH care. The aim of this study was to explore autistic people’s experiences of healthcare related to RSH in the United Kingdom. Surveys were distributed with assistance of an autism charity, and were completed by 136 adults. The survey consisted mainly of tick-box responses, but there were also several opportunities for participants to write comments about their experiences. Respondents felt that HCPs almost never seem to know how autism affects their RSH. There was broad agreement that HCPs need to be more aware of the impact of autism on healthcare experiences in general, and the specific impacts of autism on RSH. The data provide a clear picture of unmet needs for autism-aware healthcare for RSH, but further research is required to explore HCPs’ knowledge about how autism affects RSH. Combined with our findings, such research could inform the development of resources and training to improve healthcare for autistic people.

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5. Di Cesare G, Bruschetta R, Vitale A, Pelosi A, Leonardi E, Famà FI, Mastrogiuseppe M, Carrozza C, Aiello S, Campisi A, Minutoli R, Chilà P, Campisi S, Marino F, Pioggia G, Tartarisco G, Cuccio V, Ruta L. Exploring divergent kinematics in autism across social and non-social vitality forms. Sci Rep. 2024; 14(1): 24164.

Vitality Forms (VFs) constitute the dynamic essence of human actions, providing insights into how individuals engage in activities. The ability to perceive and express VFs during interpersonal interactions is pivotal for understanding others’ intentions, behaviors, and fostering effective social communication. Despite their ubiquity in all actions, research exploring the role of VFs in neurodivergent conditions related to social and communicative skills, particularly in autism, remains limited. This study aims to investigate the expression of different VFs during the execution of both social and non-social actions in children with an Autism Spectrum Condition (ASC) in comparison to neurotypical children (NT). ASC children and NT children were asked to move a small bottle either towards a target point (non-social context) or moving it towards a receiver (social context) with different VFs specifically neutral, gentle, or rude. Videotaped tasks were subsequently analyzed to study kinematic parameters characterizing VFs. Our results highlighted three main findings: (1) overall, ASC children are able to tune the motor profile of their actions, effectively conveying both gentle and rude VFs; (2) distinct kinematic parameters in the execution of VFs are able to distinguish autistic children from NT children; (3) the social context significantly influences the child’s ability to express positive and negative VFs in autism. Taken together, these findings provide new insights to understand how VFs contribute to the complex dynamics of social communication in neurodivergent autistic children, providing a valuable contribution for future interventions and support strategies.

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6. Gök Dağıdır H, Bukan N, Bahcelioglu M, Çalıkuşu A, Alim E, Dizakar S, Topa E, Bolay H. tVNS alters inflammatory response in adult VPA-induced mouse model of autism: evidence for sexual dimorphism. FEBS Open Bio. 2024.

Autism is a neurodevelopmental disorder with limited treatment alternatives and which incidence is increasing. Some research suggests that vagus nerve simulation might lead to the reduction of certain symptom. Therefore, we aimed to examine the effect of bilateral transcutaneous auricular vagus nerve stimulation (tVNS) on the inflammatory response in an adult valproic acid (VPA) induced mouse (C57BL6) model of autism for the first time. The autism model was induced by oral VPA administration (600 mg·kg(-1)) to C57BL/6 pregnant mice on E12.5 days. The study included three groups: the VPA Transcutaneous Auricular Stimulation Group (VPA + tVNS), the VPA Control Group (VPA + sham), and the Healthy Control Group (Control + sham). Each group included 16 mice (8 M/8 F). Our results show that serum IL-1β and IL-6 levels were significantly higher in male VPA-exposed mice than controls. However, IL-1β was significantly lower, and IL-6, TNF- α, and IL-22 were not different in female VPA-exposed mice compared to the control group. Brain NLRP3 levels were significantly higher in both sexes in the VPA autism model (P < 0.05). tVNS application increased brain NLRP3 levels in both sexes and reduced serum IL-1β levels in male mice. We conclude that cytokine dysregulation is associated with the VPA-induced adult autism model, and the inflammatory response is more pronounced in male mice. tVNS application altered the inflammatory response and increased brain NLPR3 levels in both sexes. Further studies are needed to understand the beneficial or detrimental role of the inflammatory response in autism and its sexual dimorphism.

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7. He X, Yang Y, Zhou S, Wei Q, Zhou H, Tao J, Yang G, You M. Alterations in microbiota-metabolism-circRNA crosstalk in autism spectrum disorder-like behaviours caused by maternal exposure to glyphosate-based herbicides in mice. Ecotoxicol Environ Saf. 2024; 285: 117060.

Epidemiological evidence indicates exposure to glyphosate-based herbicides (GBHs) increases the risk for autism spectrum disorder (ASD). The gut microbiota has been found to influence ASD behaviours through the microbiota-gut-brain axis. However, the underlying links between early life GBH exposure and ASD-like phenotypes through the microbiota-gut-brain axis remain unclear. Therefore, we exposed mice to low-dose GBH (0.10, 0.25, 0.50, and 1.00 %) and determined the effects on ASD-like behaviours. Furthermore, three kinds of omics (gut microbiomics, metabolomics, and transcriptomics) were conducted to investigate the effects of GBH exposure on gut microbiota, gut metabolites, and circular RNAs (circRNAs) in the prefrontal cortex (PFC) using a cross-generational mouse model. Behavioural analyses suggested social impairment and repetitive/stereotypic behaviours in the GBH-exposed offspring. Furthermore, maternal exposure to glyphosate significantly altered the ASD-associated gut microbiota of offspring, and ASD-associated gut metabolites were identified. Specifically, we found that alterations in the gut microenvironment may contribute to changes in gut permeability and the blood-brain barrier, which are related to changes in the levels of circRNAs in the PFC. Our results suggest a potential effect of circRNAs through the disruption of the gut-brain interaction, which is an important factor in the pathogenesis of ASD in offspring induced by maternal exposure to GBH.

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8. Ishido M, Higashi K, Mori H, Ueno M, Kurokawa K. DNA methylation profiles of transgenerational rat hyperactivity primed by silver nanoparticles: comparison with valproate model rats of autism. Behav Brain Res. 2024: 115293.

There is an increasing body of evidence suggesting that a single exposure to certain chemicals can have transgenerational effects, with the underlying mechanism believed to be epigenetic. However, it remains largely unknown whether psychiatric conditions like ADHD or autism, induced by environmental chemicals, can be inherited across generations. Pregnant rats were purchased from a commercial breeder. On the 7th day of gestation (E7), they were divided into two groups: one group was orally exposed to silver nanoparticles (AgNP; 4mg/kg), while the control group received vehicle alone. The subsequent generation (F1) underwent spontaneous motor activity (SMA) measurements at 8~11 weeks of age. For breeding at 26 weeks of age, rats with higher SMA were selected from hyperactive litters, while untreated rats were randomly selected. This process was continued for four generations in both groups. The AgNP-primed rats at 4(th) generation displayed significantly higher SMA, 1.8 times greater than that of untreated rats. Intraperitoneal injection of valproic acid (150mg/kg), an epigenetic modifier to 5-day-old rats causes adult hyperactivity (1.4-fold), suggesting that epigenetic modification contributes to rat hyperactivity. Global DNA methylation profiles in the mesencephalon were positively correlated in both groups of hyperactive rats. Furthermore, there were 7 to 8 common genes showing both hypermethylation and hypomethylation, which are involved in neuronal development, neuronal function, transcriptional activity, DNA binding activity, cell differentiation, ubiquitination processes, or histone modification, including Pax 6 and Mecp 2. Thus, it is most likely that rats retain hyperactivity through mesencephalic DNA methylation status across transgeneration.

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9. Kemp E, Nikahd M, Ackerman M, Howard M, Darragh A, Crasta J. Water Competency and Sensory Processing Among Children on the Autism Spectrum. Am J Occup Ther. 2024; 78(6).

IMPORTANCE: Globally, drowning is the third leading cause of unintentional injury death, and children on the autism spectrum are at a higher risk of drowning. Several factors affect limited water competency (swim skills and water safety) and engagement in swimming as a meaningful leisure activity. OBJECTIVE: To identify baseline water competency among children on the autism spectrum, examine caregiver goals for swim skill intervention, and examine factors associated with water competency. DESIGN: Cross-sectional analysis of baseline assessment from a larger randomized controlled trial. SETTING: Franklin County Board of Developmental Disabilities Therapy Pool. PARTICIPANTS: Children on the autism spectrum (N = 37; 28 boys, 9 girls), ages 5 to 9 yr, recruited from the local community. OUTCOMES AND MEASURES: Water competency was assessed using the Water Orientation Test-Alyn 1 and 2 (WOTA 1 and 2). Caregivers completed the Canadian Occupational Performance Measure (COPM), the Sensory Profile-2 (SP-2), and a prior aquatic exposure questionnaire. RESULTS: Children on the autism spectrum showed limited water competency skills on the WOTA 1 and 2. A majority of caregivers identified safety in and around water as a goal for their child, using the COPM. Higher conduct processing and low registration scores on the SP-2 significantly correlated with lower water competency. Exposure to group lessons significantly correlated with better water competency. CONCLUSIONS AND RELEVANCE: Children on the autism spectrum demonstrated limited swim and water safety skills, highlighting the need for programs that teach swim and water safety skills in this population. Plain-Language Summary: This study examined water competency, including swim safety skills, among children on the autism spectrum. The results suggest that these children lacked basic water competency and safety skills. Caregivers of children on the autism spectrum identified water safety in and around bodies of water to be a high-priority goal. A child’s sensory characteristics and prior exposure to water activities affect their water competency. Our results highlight the need for programs that teach swim and water safety skills for children on the autism spectrum.

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10. Latrèche K, Kojovic N, Pittet I, Natraj S, Franchini M, Smith IM, Schaer M. Gesture Imitation Performance and Visual Exploration in Young Children with Autism Spectrum Disorder. J Autism Dev Disord. 2024.

Most studies in children with autism spectrum disorder (ASD) support a decrement in imitation performance. Factors related to visual attention and motor execution have been proposed to explain this phenomenon in ASD. However, studies investigated imitation with various methods, leading to inconsistent findings. Here, we examine imitation performance related to visual attention and motor execution. We focused on the imitation of meaningful and meaningless gestures, consistently reported as more affected than imitation of actions with objects in ASD. The imitation eye-tracking task consisted of a video of an actor demonstrating gestures and prompting children to imitate them. The demonstrations comprised meaningful and meaningless hand gestures, and meaningless facial gestures. We measured the fixation duration to the actor’ face during child-directed speech and gesture demonstrations. We video-recorded children to assess their performance. Our sample comprised 100 participants (3.55 ± 1.11 years old), including 84 children with ASD. The ASD and typically developing groups displayed the same visual attention toward gesture demonstrations, although children with ASD spent less time looking at the face during facial stimuli. Visual exploration of actors’ gestures did not influence imitation performance. Imitation of meaningful gestures was associated with less severe autistic symptoms, whereas imitation of meaningless gestures was correlated with higher non-verbal cognitive and fine-motor skills. These findings contribute to a better understanding of the complexity of imitation. We delineated the distinct nature of imitation of meaningful and meaningless gestures in children with ASD. We discuss clinical implications in relation to assessment and intervention programs.

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11. Lin X, Liu H, Su S, Liu L, Tang Y, Chen Z, Zhang Y, Liu Z. [Thumbtack needle at front-mu points for abnormal behavior in children with autism spectrum disorders]. Zhongguo Zhen Jiu. 2024; 44(10): 1149-54.

OBJECTIVE: To compare the clinical effect of thumbtack needle at front-mu points combined with conventional rehabilitation training and simple conventional rehabilitation training in the treatment of autism spectrum disorders (ASD). METHODS: A total of 40 children with ASD were randomly divided into a combination group (20 cases, 3 cases dropped out) and a conventional rehabilitation group (20 cases, 3 cases dropped out). Conventional rehabilitation training i.e. language-cognition training and comprehensive education training was adopted in the conventional rehabilitation group, once a day, 5 days a week. On the basis of the treatment in the conventional rehabilitation group, thumbtack needle was applied at Zhongwan (CV 12), bilateral Tianshu (ST 25) and Guanyuan (CV 4) in the combination group, the needles were retained for 3 days each time, 3-day interval was taken between each treatment, for 5 times per month. One-month treatment was as one course and a total of 3 courses were required in both groups, with 10-day break between each course. Before and after treatment, the scores of autism behavior checklist (ABC), childhood autism rating scale (CARS), TCM spleen-stomach symptoms and Achenbach child behavior checklist (CBCL) were observed, and the serum ratio of glutamate and gamma-aminobutyric acid (Glu/GABA) was measured. RESULTS: After treatment, the scores of ABC, CARS and CBCL were decreased compared with those before treatment (P<0.05, P<0.01) in both groups, the TCM spleen-stomach symptoms score was decreased compared with that before treatment (P<0.05) in the combination group; the changes in the scores of ABC, CARS, TCM spleen-stomach symptoms and CBCL, as well as the serum Glu/GABA in the combination group were lager than those in the conventional rehabilitation group (P<0.05, P<0.01). CONCLUSION: Both thumbtack needle at front-mu points combined with conventional rehabilitation training and simple conventional rehabilitation training can effectively treat ASD, the combination treatment has superior effect on improving the abnormal behavior, spleen-stomach symptoms and balance of nerve impulse and inhibition.

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12. Lorah ER, MacNeil S, Zimmerman T, Rackensperger T, Holyfield C, Caldwell N, Dragut EC, Vucetic S. Spurring Innovation in AAC Technology through Collaborative Dreaming and Needs Finding with Individuals with Developmental Disabilities Who Use AAC. Semin Speech Lang. 2024.

Millions of individuals who have limited or no functional speech use augmentative and alternative communication (AAC) technology to participate in daily life and exercise the human right to communication. While advances in AAC technology lag significantly behind those in other technology sectors, mainstream technology innovations such as artificial intelligence (AI) present potential for the future of AAC. However, a new future of AAC will only be as effective as it is responsive to the needs and dreams of the people who rely upon it every day. AAC innovation must reflect an iterative, collaborative process with AAC users. To do this, we worked collaboratively with AAC users to complete participatory qualitative research about AAC innovation through AI. We interviewed 13 AAC users regarding (1) their current AAC engagement; (2) the barriers they experience in using AAC; (3) their dreams regarding future AAC development; and (4) reflections on potential AAC innovations. To analyze these data, a rapid research evaluation and appraisal was used. Within this article, the themes that emerged during interviews and their implications for future AAC development will be discussed. Strengths, barriers, and considerations for participatory design will also be described.

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13. Madzimbe P, Maart S, Corten L, Dambi J. Participation of fathers and siblings in home rehabilitation programmes for children with neuro-developmental delay: a scoping review. BMC Pediatr. 2024; 24(1): 659.

BACKGROUND: The role of, and impact on, mothers caring for children with neuro-developmental delay (NDD) is well documented. However, the role of fathers and siblings in families of children with NDD remains significantly understudied, particularly in low- and middle-income countries (LMICs). There has been an increased call for holistic rehabilitation of children with NDD at the family level. This study aimed to explore the involvement of fathers and siblings in the home rehabilitation programmes of children with NDD. METHODS: A scoping review was conducted using the Joanna Briggs Institute (JBI) Peters et al.’s methodology and reported according to Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines. Articles were retrieved from PUBMED, ScienceDirect, PsycINFO, SCOPUS, PEDro, and Google Scholar. Reference lists of relevant studies were also manually searched. RESULTS: Thirty research articles were identified. Father and sibling participation in home-based rehabilitation and caregiving is low in LMICs compared to high-income countries due to economic factors and cultural beliefs. Reduced participation stresses mothers and reduces developmental outcomes in children with NDD. CONCLUSIONS: This review highlights the need for rehabilitation professionals to encourage father and sibling participation in caregiving for children with NDD in home rehabilitation programmes.

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14. McKinlay M, Thorpe D, Cage E, Grainger C, Jasper C, Stewart M. A systematic review: Which psycho-social-environmental factors do autistic students identify as being important for positive experiences in mainstream secondary school?. Autism. 2024: 13623613241285974.

Research has shown that many autistic students do not thrive in mainstream secondary schools. Often studies focus on the challenges autistic people face rather than what supports thriving. We reviewed published articles, exploring what factors helped autistic people create a positive experience in school from their own perspective. We identified 36 studies and analysed the direct quotes made by autistic adolescents and adults in these studies. Factors important for positive experience included the autistic student feeling understood and accepted by adults and peers in school, being able to shape sensory and social environments in ways that suited them and accessing engaging activities. This review highlighted ways in which schools can become more inclusive and positive environments for autistic students.

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15. Morrison C, Cashin A, Foley KR. Daily living skill support for autistic people through a neurodiversity-affirming practice lens. Aust Occup Ther J. 2024.

INTRODUCTION: Supporting daily living skill (DLS) development for autistic people is a component of occupational therapy practice. DLSs are essential for an increased quality of life (QoL), independent living, and community participation. Autistic young people experience poorer outcomes in terms of QoL and independent living than non-autistic peers. Finding a balance between targeted DLS support to maximise independent living and improve QoL, while avoiding attempts to ‘normalise’ or ‘change’ autistic people, presents as a dilemma for therapists striving to align with neurodiversity-affirming practice. METHODS: This theoretical paper explored literature pertaining to DLS and the neurodiversity movement in the context of occupational therapy values and the Canadian Model of Occupational Participation. Consideration of whether targeted DLS support is neurodiversity-affirming or whether occupational therapists are compelling autistic people to mimic behavioural norms perceived by society was discussed. RESULTS: DLSs are an important factor for maximising QoL, regardless of neurotype. Occupational therapy values align with the core tenets of the neurodiversity movement, and occupational therapists are equipped with the values and skills to support the development of DLSs utilising affirming practice. CONCLUSION: Occupational therapists should critically reflect on their practice to ensure alignment with the professions core values and recent occupational therapy models, to ensure affirming practice. Further research investigating DLS and neurodiversity-affirming practice would benefit occupational therapists striving to align with neurodiversity-affirming practice. CONSUMER AND COMMUNITY INVOLVEMENT: No consumer or community involvement. Consumers have been considered throughout the development of this paper through their representation in the literature. This involved a process of reviewing the literature and considering it in the scope of the questions and how occupational therapy sits within the neurodiversity movement. PLAIN LANGUAGE SUMMARY: It is important to help autistic people to learn to do everyday things. Everyday things include activities like showering, cleaning, and cooking. These things are important so that autistic people can live on their own. It has shown that autistic young people are less likely to be able to do everyday activities on their own. It is important that therapists help autistic people learn how to do everyday things; however, do not try and change who they are. This is because completing everyday activities is an important part of QoL for all people.

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16. Oller DK, Bene ER, Yoo H, Su PL, Long H, Klaiman C, Pulver SL, Richardson S, Pileggi ML, Brane N, Ramsay G. Acoustic features of vocalizations in typically developing and autistic infants in the first year. Res Dev Disabil. 2024; 154: 104849.

BACKGROUND: We describe acoustic patterns across the five most prominent vocal types in typically developing infants (TD) and compare them with patterns in infants who develop autism (ASD) or a developmental disability (DD) not related to autism. Infant-directed speech (IDS) is a potentially important influence on such vocal acoustic patterns. Both acoustic patterns and effects of IDS are important for understanding the earliest origins of communication disorders. AIMS: To compare duration, pitch and loudness of infant vocalizations for three groups of infants (TD, ASD, DD) in circumstances with high or low amounts of IDS. METHODS AND PROCEDURES: Two five-minute segments from each of 1259 all-day recordings across the first year were coded and acoustically analyzed for three groups of infants (130 TD, 44 ASD, 21 DD). Duration, mean fundamental frequency, and root mean square amplitude were determined for >162,000 infant utterances. OUTCOMES AND RESULTS: Cries were longest and loudest, and vowel-like sounds were shortest of the five vocal types in all groups. TD infants showed significant alterations in vocal acoustics during periods of high IDS. CONCLUSIONS AND IMPLICATIONS: Strong similarities in acoustic patterns occurred across the three groups, but only the TD group showed significant acoustic effects of IDS.

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17. Png J, Wan Yunus F, Kadar M, Wai YW, Rusli YA, Khaiyom JHA. Parents’ online coaching in the early intervention home program for toddlers with autism spectrum disorder during the COVID-19 pandemic: Manual development and feasibility study. PLoS One. 2024; 19(10): e0309407.

Early intervention improves the developmental progress among toddlers with ASD. Family involvement enhances the intervention outcome. This study aimed to develop and test the feasibility of an early intervention home program manual for toddlers with ASD. Method: This study involved three phases: (I) formulation of manual concept and content design (II) manual development through focus group discussion (n = 10) and content validation by experts (n = 9); (III) cognitive interview (n = 6) and feasibility study (n = 8). Result: Content Validity Index (I-CVI) for the developed manual ranged from .78-1.0, S-CVI/Ave .96, and S-CVI/UA .79. Cognitive interview among six parents reported that the manual was easy to understand. The feasibility study reported all eight parents benefitted from coaching sessions. Approximately 87.5% of the respondents found the program benefited their children and could easily implement the activities in their daily routines. Approximately 75% of respondents reported having greater confidence in managing their child’s behaviors at home. Parent coaching using the developed home program is feasible and accepted by parents of a toddler with ASD. Further study should be developed to explore the effectiveness of parent coaching using the manual.

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18. Rivard M, Chatenoud C, Caya Chiu CY, Aldersey H, Coulombe P, Morin M, Mello C, Magnan C. From Early Behavioral Intervention to School: A Systematic Evaluation of Parents’ Perspectives on the Quality of the Autism Services During the Transition to Kindergarten. J Autism Dev Disord. 2024.

Research emphasizes the importance of seamless transitions from Early Behavioral Intervention (EBI) to school-based services, but formal support during this critical period remains limited, leading to decreased parental satisfaction with autism services. This study aimed to systematically document parents’ perception of the quality of services received during the transition from EBI to kindergarten, along with the predictors of this perception. The study adopted a prospective longitudinal design and relied on a validated evaluation framework, the Evaluation of the Trajectory in Autism for Parents (ETAP). ETAP allows to investigate five critical determinants (accessibility, continuity, validity, flexibility, empathy) of service quality, as rated by parents (N = 138 families), which were evaluated at three critical periods of the transition: end of EBI, beginning and end of first year of school. Quality ratings indicated generally positive perceptions but showed small to medium effect size decreases over time; validity had the largest decrease. Predictors of quality ratings and changes in ratings differed by phase of the transition and included child characteristics (gender, age, disabilities, challenging behavior), parent characteristics (maternal origin, fluency in the official language of the province, education level), and family characteristics (number of children). This study’s comprehensive analysis of service quality determinants and possible risk and protective factors provides insights into improving support for families navigating the transition to school.Keywords: Autism, Early behavioral intervention, School transition, Parental perception, Service quality, Evaluation framework.

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19. Schaffer LS, Breunig S, Lawrence JM, Foote IF, Grotzinger AD. Characterizing genetic pathways unique to autism spectrum disorder at multiple levels of biological analysis. Mol Autism. 2024; 15(1): 46.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical patterns of social functioning and repetitive/restricted behaviors. ASD commonly co-occurs with ADHD and, despite their clinical distinctiveness, the two share considerable genetic overlap. Given their shared genetic liability, it is unclear which genetic pathways increase the likelihood of ASD independently of ADHD. METHODS: We applied Genomic Structural Equation Modeling (SEM) to GWAS summary statistics for ASD and childhood-diagnosed ADHD, decomposing the genetic variance for ASD into that which is unique to ASD (uASD) and that which is shared with ADHD. We computed genetic correlations between uASD and 83 external traits to estimate genetic overlap between uASD and other clinically relevant phenotypes. We went on to apply Stratified Genomic SEM to identify classes of genes enriched for uASD. Finally, we implemented Transcriptome-Wide SEM (T-SEM) to explore patterns of gene-expression associated with uASD. RESULTS: We observed positive genetic correlations between uASD and several external traits, most notably those relating to cognitive/educational outcomes and internalizing psychiatric traits. Stratified Genomic SEM showed that heritability for uASD was significantly enriched in genes involved in evolutionarily conserved processes, as well as for a histone mark in the germinal matrix. T-SEM revealed 83 unique genes with expression associated with uASD, 34 of which were novel with respect to univariate analyses. These genes were overrepresented in skin-related pathologies. LIMITATIONS: Our study was limited by summary statistics derived exclusively from individuals of European ancestry. Additionally, using data based on a general ASD diagnosis limits our ability to understand genetic factors contributing to the pronounced clinical heterogeneity in ASD. CONCLUSIONS: Our findings delineate the unique genetic underpinnings of ASD that are independent of ADHD at the genome-wide, functional, and gene expression level of analysis. In addition, we identify novel associations previously masked by their diametric effects on ADHD. Collectively, these results provide insight into the processes that make ASD biologically unique.

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20. Slevin H, Kehinde F, Begum-Ali J, Ellis C, Burkitt-Wright E, Green J, Johnson MH, Pasco G, Charman T, Jones EJH, Garg S. Developmental trajectories in infants and pre-school children with Neurofibromatosis 1. Mol Autism. 2024; 15(1): 45.

BACKGROUND: Children with Neurofibromatosis 1 (NF1) show cognitive, behavioural and social differences compared to their peers. However, the age and sequence at which these differences begin to emerge is not fully understood. This prospective cohort study examines the cognitive, behavioural, ADHD trait and autism symptom development in infant and pre-school children with NF1 compared with typically developing (TD) children without a family history of neurodevelopmental conditions. METHODS: Data from standardised tests was gathered at 5, 10, 14, 24 and 36 months of age (NF1 n = 35, TD n = 29). Developmental trajectories of cognitive (Mullen Scales of Early Learning, MSEL) and adaptive behavioural (Vineland Adaptive Behavior Scales, VABS) development from 5 to 36 months were analysed using linear mixed modelling. Measures of ADHD (Child Behavior Checklist) and autism traits (ADOS-2, BOSA-MV and ADI-R) were assessed at 24 and 36 months. RESULTS: The developmental trajectory of cognitive skills (all domains of the MSEL) and behavioural skills (four domains of the VABS) differed significantly between NF1 and TD groups. Post-hoc tests demonstrated that the NF1 participants scored significantly lower than TD participants at 24 months on all MSEL and VABS domains. The NF1 cohort demonstrated higher mean autism and ADHD traits at 24 months and 14% of the NF1 cohort met a research diagnostic classification for autism at 36 months. LIMITATIONS: The study has a relatively small sample size due to variable retention and rolling recruitment. Due to limitations imposed by the COVID-19 pandemic, we utilised the Brief Observation of Symptoms of Autism for Minimally Verbal children (BOSA-MV) for some participants, which was administered online and may not gather as accurate a picture of traits as ADOS-2. The BOSA-MV was utilised for 41% of participants with NF1 at 36 months compared to 11% at 24 months. This may explain the reduction in the percentage of children with NF1 that met autism criteria at 36 months. CONCLUSIONS: By 24 months of age, the NF1 cohort show lower cognitive skills and adaptive behaviour and higher levels of autism and ADHD traits as compared to TD children. This has implications for developmental monitoring and referral for early interventions. TRIAL REGISTRATION: Not applicable.

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21. Smith W, Desprez C. Symptoms of constipation in autistic adults: A systematic literature review on diagnostic methods and presence of actual symptoms. Autism. 2024: 13623613241289114.

Autistic people often experience gastrointestinal issues, with constipation being one of the most common concerns. However, there are currently no specific guidelines for diagnosing constipation in autistic adults. This makes it harder for healthcare providers to identify and treat the condition effectively. In this review, we analysed nine studies from 2012 to 2022 to understand the various methods used to diagnose constipation in autistic adults and their symptoms. We found that most studies used different approaches, such as questionnaires, standardized criteria, or observation. In addition, many studies focused on children and adolescents, leaving a gap in understanding symptoms in autistic adults. The studies highlighted symptoms that were not covered by official diagnostic criteria, such as sleep disturbances and challenging behaviours. This indicates a need for healthcare providers to consider a broader range of signs when diagnosing constipation in autistic people. Our review suggests that more research focusing on adults is needed to create tailored tools for diagnosing constipation in autistic adults. This will help improve accuracy and ensure better treatment outcomes. Understanding the unique ways constipation can present in autistic people is crucial for developing effective care strategies. For healthcare providers, this review emphasizes the importance of recognizing a wide range of symptoms when assessing constipation in autistic people. For policymakers, it highlights the need for age-specific guidelines to ensure that autistic adults receive the care and support they need. Further research will help refine these diagnostic tools and ultimately lead to better healthcare practices for autistic people.

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22. Zheng Z, Cai D. Causality Between ADHD, ASD, and CVDs: A Two-Step, Two-Sample Mendelian Randomization Investigation. J Atten Disord. 2024: 10870547241288741.

BACKGROUND: While observational studies have established a connection between attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and heightened risk for cardiovascular diseases (CVD), the causal relationships are not well-defined. This study is designed to examine the causality between ASD, ADHD, and CVD risk as well as investigate the mediating factors through which ADHD and ASD influence CVD. METHODS AND RESULTS: Leveraging two-sample Mendelian randomization (MR) approaches and large scale GWAS summary stats, we examined underlying causal links between ASD and ADHD and the risk of CVDs. The analysis indicated that ADHD was related to an increased likelihood of developing coronary heart disease (OR [95% CI] 1.12 [1.03, 1.21], p = .008), heart failure (OR [95% CI] 1.14 [1.07, 1.22], p = 1.45 × 10(-4)), and large-artery stroke (OR [95% CI] 1.35 [1.09, 1.66], p = .005). In parallel, ASD showed a correlation with a greater atrial fibrillation risk (OR [95% CI] 1.09 [1.03, 1.16], p = .005] and heart failure (OR [95% CI] 1.11 [1.04, 1.19], p = .004). Additionally, we explored the mediating role of CVD risk factors through two-step MR and multivariable MR, highlighting the possible role of smoking, prescription opioid use, triglycerides, education, income, Townsend deprivation index, and obesity in the causal association of ADHD, ASD, on CVDs. CONCLUSION: This MR study highlights the necessity for rigorous cardiovascular surveillance and interventions to decrease adverse cardiovascular events in people with ADHD or ASD by preventing identified mediating risk factors.

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23. Zhou S, Chen Z, Liu G, Ma L, Liu Y. High autistic traits linked with reduced performance on affective task switching: An ERP study. Neuroimage. 2024; 300: 120855.

Few studies have investigated affective flexibility in individuals with high autistic traits. In the present study, we employed affective task-switching paradigm combined with event related potential (ERP) technology to explore affective flexibility in individuals with high autistic traits. Participants were instructed to switch between identifying the gender (gender task) and emotion (emotion task) of presented faces. Two groups of participants were recruited based on the Autism Spectrum Quotient (AQ) scores: a High Autistic Group (HAG) and a Low Autistic Group (LAG). The results confirmed that the HAG exhibited greater behavioral emotion switch costs and increased N2 and decreased P3 components when switching to the emotion task. Additionally, we identified an affective asymmetric switch cost in the HAG, where the switch cost for the emotion task was larger than for the gender task at both behavioral and electrophysiological levels. In contrast, a symmetrical switch cost was observed in the LAG. These findings indicate that the HAG experiences difficulties with affective flexibility, particularly in tasks involving emotional processing. The patterns of affective asymmetric switch costs observed in both groups differed from previous results in autistic children and the general population, suggesting that the relative dominance of gender and emotion tasks may vary between the two groups. We propose that the dominance of emotion tasks declines as autistic traits increase.

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24. Zolghadr Z, Batouli SAH, Alavi Majd H, Shafaghi L, Mehrabi Y. fMRI-Based Multi-class DMDC Model Efficiently Decodes the Overlaps between ASD and ADHD. Basic Clin Neurosci. 2024; 15(3): 367-82.

INTRODUCTION: Neurodevelopmental disorders comprise a group of neuropsychiatric conditions. Presently, behavior-based diagnostic approaches are utilized in clinical settings, but the overlapping features among these disorders obscure their recognition and management. Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) have common characteristics across various levels, from genes to symptoms. Designing a computational framework based on the neuroimaging findings could provide a discriminative tool for ultimate more efficient treatment. Machine learning approaches, specifically classification methods are among the most applied techniques to reach this goal. METHODS: We applied a novel two-level multi-class data maximum dispersion classifier (DMDC) algorithm to classify the functional neuroimaging data (utilizing datasets: ADHD-200 and autism brain imaging data exchange (ABIDE)) into two categories: Neurodevelopmental disorders (ASD and ADHD) or healthy participants, based on calculated functional connectivity values (statistical temporal correlation). RESULTS: Our model achieved a total accuracy of 62% for healthy controls. Specifically, it demonstrated an accuracy of 51% for healthy subjects, 61% for autism spectrum disorder, and 84% for ADHD. The support vector machine (SVM) model achieved an accuracy of 46% for both the healthy control and ASD groups, while the ADHD group classification accuracy was estimated to be 84%. These two models showed similar classification indices for the ADHD group. However, the discrimination power was higher in the ASD class. CONCLUSION: The method employed in this study demonstrated acceptable performance in classifying disorders and healthy conditions compared to the more commonly used SVM method. Notably, functional connections associated with the cerebellum showed discriminative power.

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