1. Akin-Bulbul I, Ozdemir S. Evaluation of the Social Attention Hypothesis: Do Children with Autism Prefer to See Objects Rather than People?. J Autism Dev Disord. 2024.

A growing body of research shows that children with autism exhibit selective limitations in their ability to direct their visual attention to social stimuli. The cause of this selective limitation, however, remains unknown. The main purpose of this study is to determine whether the limitations in social attention are influenced by the objects in the environment. Specifically, the study examines the differences in visual attention between children with autism and typically developing (TD) children as they view videos of social interactions under two conditions, with and without objects. The sample consisted of 53 children with autism and 74 TD children, aged between 18 and 36 months. The findings indicated that young children with autism exhibited differences in their social attention compared to their TD peers. The results revealed that the presence of objects did not affect the visual attention differences between the two groups. However, removing objects from the environment positively impacted the social attention of both groups. In the condition without objects, both groups directed more visual attention more toward the Face and Body Areas of Interests (AoIs), whereas in the condition with objects, both groups prioritized looking at the Toy AoI. These findings have important implications for evidence-based decision-making, especially in designing early intervention environments for children with autism.

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2. Athira ND, Rao VS, Srikanth N, Ashok MV. Motor Skill Intervention in Autism: A Neglected Component. Indian J Psychol Med. 2024; 46(6): 611-2.

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3. Chen T, Jiang J, Xu M, Dai Y, Gao X, Jiang C. Atypical prefrontal neural activity during an emotional interference control task in adolescents with autism spectrum disorder: A functional near-infrared spectroscopy study. Neuroimage. 2024; 302: 120907.

Autism spectrum disorder (ASD) is typically characterized by impairments in social interaction and communication, which may be associated with a failure to naturally orient to social stimuli, particularly in recognizing and responding to facial emotions. As most previous studies have used nonsocial stimuli to investigate inhibitory control in children and adults with ASD, little is known about the behavioral and neural activation patterns of emotional inhibitory control in adolescent with ASD. Functional neuroimaging studies have underscored the key role of the prefrontal cortex (PFC) in inhibitory control and emotional face processing. Thus, this study aimed to examine whether adolescent with ASD exhibited altered PFC processing during an emotional Flanker task by using non-invasive functional near-infrared spectroscopy (fNIRS). Twenty-one adolescents with high-functioning ASD and 26 typically developing (TD) adolescents aged 13-16 years were recruited. All participants underwent an emotional Flanker task, which required to decide whether the centrally positioned facial emotion is consistent with the laterally positioned facial emotion. TD adolescents exhibited larger RT and mean O(2)Hb level in the incongruent condition than the congruent condition, evoking cortical activations primarily in right PFC regions in response to the emotional Flanker effect. In contrast, ASD adolescents failed to exhibit the processing advantage for congruent versus incongruent emotional face in terms of RT, but showed cortical activations primarily in left PFC regions in response to the emotional Flanker effect. These findings suggest that adolescents with ASD rely on different neural strategies to mobilize PFC neural resources to address the difficulties they experience when inhibiting the emotional face.

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4. Christiansen GB, Petersen LV, Chatwin H, Yilmaz Z, Schendel D, Bulik CM, Grove J, Brikell I, Semark BD, Holde K, Abdulkadir M, Hübel C, Albiñana C, Vilhjálmsson BJ, Børglum AD, Demontis D, Mortensen PB, Larsen JT. The role of co-occurring conditions and genetics in the associations of eating disorders with attention-deficit/hyperactivity disorder and autism spectrum disorder. Mol Psychiatry. 2024.

Eating disorders (EDs) commonly co-occur with other psychiatric and neurodevelopmental disorders including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the pattern of family history and genetic overlap among them requires clarification. This study investigated the diagnostic, familial, and genetic associations of EDs with ADHD and ASD. The nationwide population-based cohort study included all individuals born in Denmark, 1981-2008, linked to their siblings and cousins. Cox regression was used to estimate associations between EDs and ADHD or ASD, and mediation analysis was used to assess the effects of intermediate mood or anxiety disorders. Polygenic scores (PGSs) were used to investigate the genetic association between anorexia nervosa (AN) and ADHD or ASD. Significantly increased risk for any ED was observed following an ADHD or ASD diagnosis. Mediation analysis suggested that intermediate mood or anxiety disorders could account for 44%-100% of the association between ADHD or ASD and ED. Individuals with a full sibling or maternal half sibling with ASD had increased risk of AN compared to those with siblings without ASD. A positive association was found between ASD-PGS and AN risk whereas a negative association was found between AN-PGS and ADHD. In this study, positive phenotypic associations between EDs and ADHD or ASD, mediation by mood or anxiety disorder, and genetic associations between ASD-PGS and AN and between AN-PGS and ADHD were observed. These findings could guide future research in the development of new treatments that can mitigate the development of EDs among individuals with ADHD or ASD.

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5. D’Addario SL, Rosina E, Massaro Cenere M, Bagni C, Mercuri NB, Ledonne A. ErbB inhibition rescues nigral dopamine neuron hyperactivity and repetitive behaviors in a mouse model of fragile X syndrome. Mol Psychiatry. 2024.

Repetitive stereotyped behaviors are core symptoms of autism spectrum disorders (ASD) and fragile X syndrome (FXS), the prevalent genetic cause of intellectual disability and autism. The nigrostriatal dopamine (DA) circuit rules movement and creation of habits and sequential behaviors; therefore, its dysregulation could promote autistic repetitive behaviors. Nevertheless, inspection of substantia nigra pars compacta (SNpc) DA neurons in ASD models has been overlooked and specific evidence of their altered activity in ASD and FXS is absent. Here, we show that hyperactivity of SNpc DA neurons is an early feature of FXS. The underlying mechanism relies on an interplay between metabotropic glutamate receptor 1 (mGluR1) and ErbB tyrosine kinases, receptors for the neurotrophic and differentiation factors known as neuregulins. Up-regulation of ErbB4 and ErbB2 in nigral DA neurons drives neuronal hyperactivity and repetitive behaviors of the FXS mouse, concurrently rescued by ErbB inhibition. In conclusion, beyond providing the first evidence that nigral DA neuron hyperactivity is a signature of FXS and nigral mGluR1 and ErbB4/2 play a relevant role in FXS etiology, we demonstrate that inhibiting ErbB is a valuable pharmacological approach to attenuate stereotyped repetitive behaviors, thus opening an avenue toward innovative therapies for ASD and FXS treatment.

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6. Dell’Osso L, Amatori G, Giovannoni F, Massimetti E, Cremone IM, Carpita B. Rumination and altered reactivity to sensory input as vulnerability factors for developing post-traumatic stress symptoms among adults with autistic traits – CORRIGENDUM. CNS Spectr. 2024: 1.

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7. Fossum IN, Øie MG, Orm S, Andersen PN, Skogli EW. Longitudinal Predictors of Adaptive Functioning in Emerging Adults with and without Autism Spectrum Disorder. Res Child Adolesc Psychopathol. 2024.

Individuals with autism spectrum disorder (ASD) display heterogeneity in adaptive functioning, underscoring the need to identify predictors to inform clinical and scientific interventions. We investigated the longitudinal associations between an autism diagnosis, co-occurring psychopathology symptoms, executive functions (EF) and subsequent adaptive functioning in individuals with and without ASD (IQ > 70). Sixty-six individuals (26 with ASD, 40 without ASD) were assessed at baseline (mean age = 11.8 years, SD = 2.1) and at 10-year follow-up (mean age 21.4, SD = 2.3). The diagnostic evaluation comprised a comprehensive assessment of autism symptoms and emotional and cognitive functioning. Co-occurring psychopathology symptoms were assessed with two measures: self-reported depressive symptoms with the Short Mood and Feelings Questionnaire and parent-reported total problems with the Child Behavior Checklist 6-18. Participants completed neuropsychological tests to evaluate EF. We investigated adaptive functioning by using the Weiss Functional Impairment Rating Scale (WFIRS) which is a self-report measure of impairment in the following domains: family, work, school, life skills, self-concept, social and risk-taking. Among the emerging adults previously diagnosed with ASD, 46% reported living independently, 75% had at least one friend, and 71% were employed or in education. Individuals with ASD reported significantly lower adaptive functioning compared to individuals without ASD (WFIRS Total, Hedges’ g = 0.92). Greater EF difficulties in childhood/adolescence predicted lower adaptive functioning in emerging adulthood, surpassing the influence of autism diagnosis and co-occurring symptoms. The findings highlight the influential role of EF, implying that interventions targeting EF difficulties could improve long-term outcomes for individuals with ASD.

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8. Ganai UJ, Bhushan B, Venkatesh KS. Broad Autism Phenotype and Gait in Parents of Children With and Without Autism Spectrum Disorder. Ann Neurosci. 2024: 09727531241249533.

BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder. Research has shown that parents and relatives of children with ASD often exhibit subthreshold ASD-like characteristics known as broad autism phenotype (BAP) as well as impairments in motor behaviours. PURPOSE: The current study aimed to examine the BAP traits and motor behaviours, that is, gait in 44 parents of children with ASD and in 48 parents of typically developing children (TD). METHODS: The BAP traits were measured using the broad autism phenotype questionnaire (BAPQ), and a low-cost computer vision-based framework was utilised to quantify the gait in children with ASD and their parents and TD children and their parents. RESULTS: The parents of children with ASD consistently displayed significantly higher scores on rigid personality and pragmatic language, however, there were no significant differences between the two group of parents on aloof personality of BAP traits. On gait parameters, the parents of children with ASD had a reduced gait speed in comparison to parents of TD children. There were no meaningful similarities in gait parameters of children with ASD and their parents. CONCLUSIONS: These findings support the presence of ASD-like traits in the parents of children with ASD and gait speed as a putative motor endophenotype of ASD.

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9. Girolamo T, Escobedo A, Ghali S, Greene-Pendelton K, Campos I, Ram-Kiran P. Services in Minoritized Autistic Adolescents and Adults Varying in Language Skills. Semin Speech Lang. 2024.

Racially and ethnically minoritized (minoritized) autistic individuals face intersectional disparities in service access in the transition to adulthood. Our understanding of disparities is limited by systematic exclusion from research and inadequate approaches to characterizing services. To address these gaps and effect advocacy, this study (1) examined services received, unmet service needs, and barriers in minoritized autistic adolescents and adults and (2) determined if language, NVIQ, and autism traits predict services when deployed as binary or continuous variables. Academic and community partners tailored community-based participatory research (CBPR) to a local context. Participants (N = 73, ages 13-30) completed a behavioral assessment protocol. Participants and caregivers provided information on services received, unmet service needs, and barriers to services. Data were analyzed using descriptive and regression. Participants received multiple services yet had multiple unmet service needs and barriers. Effects of services differed by approach. Language impairment, but not language scores, predicted receiving more services. High levels of autism traits and autism trait scores predicted more unmet service needs. While the number of services and unmet service needs was similar to prior work, differences in individual service variables and effects support attention to heterogeneity. Findings support intersectional approaches to CBPR and autism research.

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10. Jaschke AC, Howlin C, Pool J, Greenberg YD, Atkinson R, Kovalova A, Merriam E, Pallás-Ferrer I, Williams S, Moore C, Hayden K, Allison C, Odell-Miller H, Baron-Cohen S. Correction: Study protocol of a randomized control trial on the effectiveness of improvisational music therapy for autistic children. BMC Psychiatry. 2024; 24(1): 815.

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11. Jia M, Hu F, Yang D. Effects of different exercise modalities on pediatric and adolescent populations with developmental disorders: a network meta-analysis of randomized controlled trials. Eur J Pediatr. 2024; 184(1): 18.

To investigate the impact of different types of exercise modalities on children and adolescents with developmental disorders. Data were obtained from randomized controlled trials retrieved from five databases. Following the PRISMA NMA guidelines, a Bayesian framework-based Markov chain Monte Carlo simulation was used for aggregation and analysis. The included studies were assessed for risk of bias and quality evaluation. A total of 68 studies were included. Moderate-quality evidence suggests that combative sports may be the best exercise for enhancing gross motor skills, ball sports are the most effective for improving executive function, neurodevelopmental motor training is the most effective for improving social skills, and aquatic exercise is the most effective for improving behavioral problems. CONCLUSIONS: Combat sports, ball sports, neurodevelopmental motor training, and aquatic exercise may be effective exercise modalities for improving symptoms in children and adolescents with developmental disorders. However, the degree of improvement can vary among individuals with specific developmental disorders. Therefore, precise assessment of the individual symptoms of children or adolescents is crucial before selecting specific exercise interventions. TRIAL REGISTRATION: PROSPERO (CRD42024545673). WHAT IS KNOWN: • Many studies indicate that exercise as an intervention can have positive effects on individuals with developmental disorders, such as ADHD and autism. However, reported effects vary, and there is no clear consensus on the optimal exercise intervention method yet. WHAT IS NEW: • Through a comprehensive network meta-analysis, various exercise interventions for children and adolescents with developmental disorders were compared to determine the optimal approach. The study found that combat sports, ball sports, neurodevelopmental motor training, and aquatic exercise could potentially be effective modalities for improving symptoms in this population.

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12. Kang N, Sargsyan S, Chough I, Petrick L, Liao J, Chen W, Pavlovic N, Lurmann FW, Martinez MP, McConnell R, Xiang AH, Chen Z. Dysregulated metabolic pathways associated with air pollution exposure and the risk of autism: Evidence from epidemiological studies. Environ Pollut. 2024; 361: 124729.

Autism spectrum disorder (ASD) is a developmental disorder with symptoms that range from social and communication impairments to restricted interests and repetitive behavior and is the 4th most disabling condition for children aged 5-14. Risk factors of ASD are not fully understood. Environmental risk factors are believed to play a significant role in the ASD epidemic. Research focusing on air pollution exposure as an early-life risk factor of autism is growing, with numerous studies finding associations of traffic and industrial emissions with an increased risk of ASD. One of the possible mechanisms linking autism and air pollution exposure is metabolic dysfunction. However, there were no consensus about the key metabolic pathways and corresponding metabolite signatures in mothers and children that are altered by air pollution exposure and cause the ASD. Therefore, we performed a review of published papers examining the metabolomic signatures and metabolic pathways that are associated with either air pollution exposure or ASD risk in human studies. In conclusion, we found that dysregulated lipid, fatty acid, amino acid, neurotransmitter, and microbiome metabolisms are associated with both short-term and long-term air pollution exposure and the risk of ASD. These dysregulated metabolisms may provide insights into ASD etiology related to air pollution exposure, particularly during the perinatal period in which neurodevelopment is highly susceptible to damage from oxidative stress and inflammation.

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13. Liu Q, Ma Z, Jin Y, He R, Su X, Chen J, Yin T, Cheng J, Guo Y, Li X, Liu J. Prediction for children with autism spectrum disorder based on digital behavioral features during free play. BMC Psychiatry. 2024; 24(1): 799.

BACKGROUND: Play is an indispensable and meaningful activity in children’s daily life. Research has shown that autistic children often exhibit differences in play development. The core traits of autism, such as distinct patterns in social interaction and communication, focused interests, and repetitive behaviors, frequently manifest in their play. Therefore, play may serve as an insightful measure of these differences. Unlike previous studies focusing on play behaviors only, we explored other behaviors associated with autism during free play, and constructed a clinical prediction model for effectively screening autistic children. METHODS: Participants, including 123 autistic children and 123 neurotypical children aged 1-6 years, engaged in a 1.5-min free play with fixed toys, which was videotaped. A novel behavior-coding scheme was used to code these videos for 19 autistic behaviors, including play. The coding details of the 19 behaviors were then converted and expanded to 81 digital behavior indicators, including counts, duration, and proportion. RESULTS: The autistic children showed less functional play and imaginative play and reduced social communication and interactions, such as eye contact, facial expressions, and vocalizations, compared to the neurotypical children during free play. Furthermore, 5 behavioral indicators were selected for the prediction model through stepwise logistic regression, including 1 on socially oriented vocalizations and 4 on count and duration of functional play. The receiver operating characteristic (ROC) curve revealed a good prediction performance with an area under the curve (AUC) of 0.826, a sensitivity of 85.4%, and a specificity of 68.3%. CONCLUSION: Our findings highlight differences in play performance and social communication and interactions during free play among autistic children. Based on these findings, we constructed a good clinical prediction model, which might be a potential digital tool used by clinicians to effectively screen autistic children.

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14. Madley-Dowd P, Ahlqvist VH, Forbes H, Rast JE, Martin FZ, Zhong C, Barry CS, Berglind D, Lundberg M, Lyall K, Newschaffer CJ, Tomson T, Davies NM, Magnusson C, Rai D, Lee BK. Antiseizure medication use during pregnancy and children’s neurodevelopmental outcomes. Nat Commun. 2024; 15(1): 9640.

The teratogenic potential of valproate in pregnancy is well established; however, evidence regarding the long-term safety of other antiseizure medications (ASMs) during pregnancy remains limited. Using routinely collected primary care data from the UK and nationwide Swedish registries to create a cohort of 3,182,773 children, of which 17,495 were exposed to ASMs in pregnancy, we show that those exposed to valproate were more likely to receive a diagnosis of autism, intellectual disability, and ADHD, when compared to children not exposed to ASMs. Additionally, children exposed to topiramate were 2.5 times more likely to be diagnosed with intellectual disability (95% CI: 1.23-4.98), and those exposed to carbamazepine were 1.25 times more likely to be diagnosed with autism (95% CI: 1.05-1.48) and 1.30 times more likely to be diagnosed with intellectual disability (95% CI: 1.01-1.69). There was little evidence that children exposed to lamotrigine in pregnancy were more likely to receive neurodevelopmental diagnoses. While further research is needed, these findings may support considering safer treatment alternatives well before conception when clinically appropriate.

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15. McDonald CC, Labows C, Myers RK, Sartin E, Yerys BE, Carey ME, Mollen CJ, Curry AE. Healthcare Providers’ Perspectives on Autistic Adolescents Transitioning to Independent Driving. J Autism Dev Disord. 2024.

Licensure is an option for some autistic adolescents and families that increases mobility by enabling independent travel to employment, school, and social activities. The objective of this study was to identify current strategies used by healthcare providers (HCPs) in their guidance to autistic adolescents and families on the transition to independent driving. Semi-structured interviews were conducted with 15 HCPs. The team’s previous research, literature review and expert feedback informed the development of the interview guide. A content analysis approach was used in the coding of transcripts, nine of which were double coded. Study team members reviewed coded transcripts, provided and discussed narrative summaries, and identified themes. Interviews were conducted with physicians, social workers, psychologists, therapist and a nurse practitioner. HCP identified their perceptions of autistic adolescents’ strengths and weaknesses to be addressed in their individualized approaches. They described using clinical interactions as time to address licensure and driving, but also referred to specialists as needed. HCPs described using existing resources, but also provided a wish list of future resources. HCPs use an individualized approach for guidance in the transition to independent driving, considering the unique needs of autistic adolescent patients and families. These HCPs identified a clear need for tailored resources and guidance they can use in support of independent driving when appropriate for their patients and families.

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16. McMahon CM. College Students Recognize Characteristics of Autism, but Struggle to Differentiate Between Characteristics of Autism and Other Disabilities. J Autism Dev Disord. 2024.

The current study evaluates whether college students can identify characteristics of autism as diagnostic for autism, and characteristics of other disabilities as not diagnostic for autism. This study also examines metacognitive awareness of autism knowledge, evaluating whether college students can accurately calibrate their confidence in their beliefs about autistic characteristics. 283 college students completed the Autism Symptomatology Knowledge Assessment (McMahon et al. Research in Autism Spectrum Disorders 71:101499, 2020). In this assessment, participants were presented with characteristics of autism and other disabilities and asked to identify which characteristics could be used to diagnose someone with autism. For each characteristic, participants indicated how certain they were in their response. Participants more accurately categorized characteristics of autism, particularly social interaction and communication challenges, as being consistent with an autism diagnosis. Participants had more difficulty identifying that characteristics of other disabilities, especially anxiety, ADHD, and learning disabilities, were not diagnostic for autism. For autistic characteristics, participants’ confidence and accuracy were positively correlated, such that participants who responded accurately were more confident in their response than those who responded inaccurately. For other disability characteristics, confidence and accuracy were typically not correlated or inversely correlated, indicating poor metacognitive awareness. College students confuse autism with other disabilities, which may have important implications in real-world contexts. Furthermore, individuals with poor metacognitive awareness of their autism knowledge may not realize that they are confusing autism with other disabilities, such that they may not seek out additional corrective information about autism.

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17. Murphy MS, Abdulaziz KE, Lavigne É, Erwin E, Guo Y, Dingwall-Harvey AL, Stieb D, Walker MC, Wen SW, Shin HH. Association between prenatal air pollutant exposure and autism spectrum disorders in young children: A matched case-control study in Canada. Environ Res. 2024; 261: 119706.

The direction and magnitude of association between maternal exposure to ambient air pollutants across gestational windows and offspring risk of autism spectrum disorders (ASD) remains unclear. We sought to evaluate the time-varying effects of prenatal air pollutant exposure on ASD. We conducted a matched case-control study of singleton term children born in Ontario, Canada from 1-Apr-2012 to 31-Dec-2016. Provincial birth registry data were linked with applied behavioural analysis services and ambient air pollutant datasets to ascertain prenatal exposure to nitrogen dioxide (NO(2)), ground-level ozone (O(3)), fine particulate matter (PM(2.5)), and ASD diagnoses. Covariate balance between cases and controls was established using coarsened exact matching. Conditional logistic regression was used to assess the association between prenatal air pollutant exposure and ASD. Distributed lag non-linear models (DLNM) were used to examine the effects of single-pollutant exposure by prenatal week. Sensitivity analyses were conducted to assess the impact of exposure period on the observed findings. The final sample included 1589 ASD cases and 7563 controls. Compared to controls, cases were more likely to be born to mothers living in urban areas, delivered by Caesarean section, and assigned male sex at birth. NO(2) was a consistent and significant contributor to ASD risk after accounting for co-exposure to O(3), PM(2.5) and covariates. The odds ratio per interquartile range increase was 2.1 (95%CI 1.8-2.3) pre-conception, 2.2 (2.0-2.5) for the 1st trimester, 2.2 (1.9-2.5) for the 2nd trimester, and 2.1 (1.9-2.4) for the 3rd trimester. In contrast, findings for O(3) and PM(2.5) with ASD were inconsistent. Findings from DLNM and sensitivity analyses were similar. Exposure to NO(2) before and during pregnancy was significantly associated with ASD in offspring. The relationship between prenatal O(3) and PM(2.5) exposure and ASD remains unclear. Further investigation into the combined effects of multi-pollutant exposure on child neurodevelopment is warranted.

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18. Palanivelu L, Chen YY, Chang CJ, Liang YW, Tseng HY, Li SJ, Chang CW, Lo YC. Investigating brain-gut microbiota dynamics and inflammatory processes in an autistic-like rat model using MRI biomarkers during childhood and adolescence. Neuroimage. 2024; 302: 120899.

Autism spectrum disorder (ASD) is characterized by social interaction deficits and repetitive behaviors. Recent research has linked that gut dysbiosis may contribute to ASD-like behaviors. However, the exact developmental time point at which gut microbiota alterations affect brain function and behavior in patients with ASD remains unclear. We hypothesized that ASD-related brain microstructural changes and gut dysbiosis induce metabolic dysregulation and proinflammatory responses, which collectively contribute to the social behavioral deficits observed in early childhood. We used an autistic-like rat model that was generated via prenatal valproic acid exposure. We analyzed brain microstructural changes using diffusion tensor imaging (DTI) and examined microbiota, blood, and fecal samples for inflammation biomarkers. The ASD model rats exhibited significant brain microstructural changes in the anterior cingulate cortex, hippocampus, striatum, and thalamus; reduced microbiota diversity (Prevotellaceae and Peptostreptococcaceae); and altered metabolic signatures. The shift in microbiota diversity and density observed at postnatal day (PND) 35, which is a critical developmental period, underscored the importance of early ASD interventions. We identified a unique metabolic signature in the ASD model, with elevated formate and reduced acetate and butyrate levels, indicating a dysregulation in short-chain fatty acid (SCFA) metabolism. Furthermore, increased astrocytic and microglial activation and elevated proinflammatory cytokines-interleukin-1 beta (IL-1β), interleukin-6 (IL-6), interferon-gamma (IFN-γ), and tumor necrosis factor-alpha (TNF-α)-were observed, indicating immune dysregulation. This study provided insights into the complex interplay between the brain and the gut, and indicated DTI metrics as potential imaging-based biomarkers in ASD, thus emphasizing the need for early childhood interventions.

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19. Pepe G, Coco R, Corica D, Luppino G, Morabito LA, Lugarà C, Abbate T, Zirilli G, Aversa T, Stagi S, Wasniewska M. Endocrine disorders in Rett syndrome: a systematic review of the literature. Front Endocrinol (Lausanne). 2024; 15: 1477227.

BACKGROUND: Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that involves mainly girls and is the second most frequent cause of genetic intellectual disability. RTT leads to neurological regression between 6 and 18 months of life and could be associated with a variable neurological impairment. However, RTT affects not only neurological function but also wide aspects of non-neurological organs. Recent data showed that the endocrine system is often involved in RTT patients, including disorders of growth, bone health, thyroid, puberty onset, and weight abnormalities However, systematic data on endocrinopathies in RTT are scarce and limited. OBJECTIVE: This review aims to analyze the prevalence and type of endocrine comorbidities in RTT population, to allow a precocious diagnosis and appropriate endocrinological management. METHODS: Systematic research was carried out from January 2000 to March 2024 through MEDLINE via PubMed, Scopus, and the Cochrane Library. RESULTS: After the selection phase, a total of 22 studies (1090 screened) met the inclusion criteria and were reported in the present review. Five studies were observational-retrospective, four were cross-sectional and case report or series, three were survey, prospective, and case-control, and finally one study for descriptive-transversal and longitudinal population-based study. The sample population consisted of multiethnic groups or single ethnic groups. The main endocrinopathies reported were malnutrition, bone alterations, and alterations of puberty onset. CONCLUSIONS: Our analysis shows that endocrinopathies are not rare in RTT patients. Therefore, in the context of a multidisciplinary approach, accurate screening and monitoring for endocrinopathies should be recommended in all RTT patients, to improve clinical practice, healthcare management, and, finally, patients’ quality of life.

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20. Pye K, Le HND, Iacono T, Gold L. Utilization of early therapeutic supports by autistic preschoolers in Australia: A cross-sectional study following implementation of the National Disability Insurance Scheme. Autism Res. 2024.

There are many types of support for young autistic children and their families, but service use in this population is not well understood. In this study, primary caregivers of autistic preschoolers were surveyed (n = 95) and a selection were then interviewed (n = 19) to understand how early, therapeutic supports were accessed by families in Australia following the establishment of a National Disability Insurance Scheme (NDIS). This article presents the quantitative data from surveys and interviews. Families usually accessed at least two types of support. The most accessed supports were occupational therapy, speech pathology and psychology, with 43% of the sample accessing some other form of support. Multiple linear regression indicated that children’s higher level of support need, living in less remote or less socio-economically disadvantaged areas, and high household income were associated with higher numbers of supports accessed. Services tended to follow an individual, clinic-based model and little use of alternative service delivery was reported. The findings indicate that Australian families are accessing a wider range of support types than before the NDIS and children with more substantial autism-related support needs are likely to access a greater number of types of supports. Socio-economic inequities continue to exist and should be addressed.

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21. Rajagopalan SS, Tammimies K. Predicting neurodevelopmental disorders using machine learning models and electronic health records – status of the field. J Neurodev Disord. 2024; 16(1): 63.

Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early.

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22. Tawankanjanachot N, Melville C, Truesdale M, Kidd L. An online survey of perspectives towards the impact of the covid-19 pandemic amongst caregivers of adolescents with ASD. BMC Nurs. 2024; 23(1): 830.

BACKGROUND: The coronavirus disease (COVID-19) pandemic has had a negative impact on the health and mental health of adolescents and adolescents with autism spectrum disorders (ASD) and their caregivers, have been disproportionally affected. The purpose of this study was to investigate the impact of COVID-19 on Thai caregivers and adolescents with ASD. METHODS: This study used an online survey with closed and free text questions to investigate how the pandemic had impacted on social skills development and psychological variables, and perceived needs for support. The survey link was shared to parents via the Yuwaprasart Withayopathum Child and Adolescent Hospital and the social media platforms of known ASD stakeholder networks in Thailand. Binary logistic regression was used to investigate the relationships between sociodemographic characteristics, service use, and social skills problems experienced by adolescents during the pandemic. Content analysis was applied to analyse free-text data. RESULTS: A total of 376 caregivers of adolescents with ASD aged 10-19 years completed the survey, of which 364 were included in the analysis. In total, 38.7% of caregivers reported that during the pandemic the social skills of their adolescent family member had worsened. Most families reported that they were able to continue to access support from healthcare and educational services, albeit in different ways than pre-pandemic, during the acute stages of the pandemic which benefited the maintenance of ASD symptoms and social skills. Factors identified as reducing the odds of a worsening in social skills during the pandemic included; regular access to treatment for adolescents (odds ratio [OR] = 0.55, confidence interval 95% (CI) 0.32-0.98, p = 0.044), caregivers feeling that they had sufficient support from hospitals (OR = 0.46, 95% CI 0.26-0.81, p = 0.007) and older age of adolescents (OR = 0.53, CI 0.29-0.99, p = 0.047). The qualitative free text comments showed that the caregivers felt that greater information on managing adolescent behaviours, opportunities for adolescents to practice social skills, and the provision of greater emotional support and material assistance from healthcare professionals during the pandemic would have helped them to care for the adolescents with ASD. CONCLUSION: Regular access to services, support from hospitals during the pandemic and older age in adolescence may have helped prevent the worsening of the social skills problems of adolescents with ASD.

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23. Vestner T, Gehdu BK, Gray KLH, Cook R. Autistic adults exhibit a typical search advantage for facing dyads. Autism Res. 2024.

Recent findings obtained with non-autistic participants indicate that pairs of facing individuals (face-to-face dyadic targets) are found faster than pairs of non-facing individuals (back-to-back dyadic targets) when hidden among distractor pairings (e.g., pairs of individuals arranged face-to-back) in visual search displays. These results suggest that facing dyads may compete for observers’ attention more effectively than non-facing dyads. In principle, such an advantage might aid the detection of social interactions and facilitate social learning. Autistic individuals are known to exhibit differences in visual processing that impede their perception of other individuals. At present, however, little is known about multi-actor visual processing in autism. Here, we sought to determine whether autistic individuals show a typical search advantage for facing dyads. In an online study, autistic and non-autistic participants were tasked with finding target dyads (pairs of faces arranged face-to-face or back-to-back) embedded among distractor dyads (pairs of faces arranged face-to-back). Relative to the non-autistic controls, the autistic participants took slightly longer to locate target dyads. However, a clear and comparable search advantage for facing dyads was seen in both participant groups. This preliminary evidence suggests that multi-actor processing of autistic participants exhibits typical sensitivity to dyadic arrangement.

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24. Wan L, Li Y, Zhu G, Yang D, Li F, Wang W, Chen J, Yang G, Li R. Multimodal investigation of dynamic brain network alterations in autism spectrum disorder: Linking connectivity dynamics to symptoms and developmental trajectories. Neuroimage. 2024; 302: 120895.

BACKGROUND: Autism spectrum disorder (ASD) has been associated with disrupted brain connectivity, yet a comprehensive understanding of the dynamic neural underpinnings remains lacking. This study employed concurrent electroencephalography (EEG) and functional near-infrared spectroscopy (fNIRS) techniques to investigate dynamic functional connectivity (dFC) patterns and neurovascular characteristics in children with ASD. We also explored associations between neurovascular characteristics and the developmental trajectory of adaptive behavior in individuals with ASD. METHODS: Resting-state EEG and fNIRS data were simultaneously recorded from 58 ASD and 63 TD children. We implemented a k-means clustering approach to extract the dFC states for each modality. In addition, a multimodal covariance network (MCN) was constructed from the EEG and fNIRS dFC features to capture the neurovascular characteristics linked to ASD. RESULTS: EEG analyses revealed atypical properties of dFC states in the beta and gamma bands in children with ASD compared to TD children. For fNIRS, the ASD group exhibited atypical properties of dFC states such as duration and transitions relative to the TD group. The MCN analysis revealed significantly suppressed functional covariance between right superior temporal and left Broca’s areas, alongside enhanced right dorsolateral prefrontal-left Broca covariance in ASD. Notably, we found that early neurovascular characteristics can predict the developmental progress of adaptive functioning in ASD. CONCLUSION: The multimodal investigation revealed distinct dFC patterns and neurovascular characteristics associated with ASD, elucidating potential neural mechanisms underlying core symptoms and their developmental trajectories. Our study highlights that integrating complementary neuroimaging modalities may aid in unraveling the complex neurobiology of ASD.

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25. Wood J, Dukes C, Kearney KB. Using an Instructional Package to Support Adults with Autism in Communicating with a Medical Provider. J Autism Dev Disord. 2024.

Adults with autism spectrum disorder (ASD) often experience co-occurring physical and mental health challenges throughout their lives. At the same time, they frequently face many barriers to accessing proper care. Strategies to improve communication and understanding can help to mitigate some of these barriers. This study examined the effects of an instructional package, including a video module accompanied by guided notes, the Autism Healthcare Accommodations Tool (AHAT), and behavior skills training (BST) to teach adults with autism to communicate their unique needs and request accommodations to a medical provider. Three participants independently completed a self-guided video module that modeled how to complete the guided notes and AHAT to identify appropriate accommodations and prepare for a doctor’s appointment. Once finished, participants were taught to verbalize their needs and accommodations through BST. Results showed that participants’ communication skills increased after introducing the instructional package, generalized to a novel provider and maintained once the instructional package was removed. This intervention proved to be an effective and socially valid method to improve communication for adults with autism in medical settings. Implications and suggestions for future research are discussed.

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26. Zengin Yazıcı G, Kaya Evsen S, Demir A, Kayıhan H. How the Occupational Competence and Quality of Life in Parents of Children with Autism Spectrum Disorder Changed During the COVID-19 Pandemic: A Mixed Design Study. Occup Ther Health Care. 2024: 1-24.

This study aimed to evaluate the impact of the pandemic on the occupational competence and quality of life of parents of children with autism using a mixed-methods design. It compared 220 parents of children with autism to 300 parents of neurotypical children, utilizing the Occupational Self-Assessment, Short Form 36 Health Survey, and qualitative interviews for data collection. Quantitative results revealed significant differences in occupational competence and quality of life between the two groups. Qualitative interviews underscored changes in parents’ professional and social roles, along with reductions in self-care, productivity, and recreational activities, particularly affecting parents of children with autism.

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