1. Abbot-Smith K, Matthews D, Bannard C, Nice J, Malkin L, Williams D, Hobson W. Conversational topic maintenance and related cognitive abilities in autistic versus neurotypical children. Autism. 2024: 13623613241286610.

Children who struggle to maintain conversation with peers often have fewer friends and lower popularity ratings, which can affect wellbeing. Verbal social communication more broadly is linked to both behavioural difficulties and emotional problems. We carried out three studies to examine children’s ability to provide responses which keep a back and forth conversation going. The first study found that while autistic children had on average greater difficulties than their neurotypical peers with certain aspects of conversation topic maintenance, for other aspects the autistic group showed considerable strengths. Both studies 2 (neurotypical children) and 3 (autistic children) found relationships between, on the one hand, conversational ability, and on the other, the ability to consider another’s viewpoint and the ability to maintain and update information in short term memory. We suggest support for social conversation skills should be part of mainstream classroom curricula for autistic and neurotypical children alike.

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2. Galán-Olleros M, González-Alguacil E, Soto-Insuga V, Vara-Arias MT, Ortiz-Cabrera NV, Egea-Gámez RM, García-Peñas JJ, Martínez-Caballero I. Prevalence of orthopaedic conditions in Rett syndrome: a systematic review and meta-analysis. J Intellect Disabil Res. 2024.

BACKGROUND: Rett syndrome (RTT), a developmental disorder primarily affecting girls and linked to methyl-CpG binding protein-2 (MECP2) gene mutations, presents musculoskeletal abnormalities with varying prevalence across studies and age groups. Our aim was to delineate the prevalence of orthopaedic conditions in individuals with RTT. METHOD: Three databases were searched and independently screened by two reviewers to retrieve observational studies published after 2000 that recruited 10 or more patients diagnosed with RTT and reported the prevalence of any orthopaedic conditions (scoliosis, hip displacement, knee problems or foot deformities). A random-effects meta-analysis was performed to determine the pooled prevalence based on study weight. RESULTS: Of 867 screened studies, 21 studies involving 9997 girls with RTT (mean age 14.1 years; range, 3-38.5) met the inclusion criteria. The pooled prevalence of scoliosis was 64.5% [95% confidence interval (CI) 55.4-73.6%; I(2) = 99%; P < 0.01], of hip displacement was 29.6% (95% CI 8.9-50.2%; I(2) = 97%; P < 0.01) and of foot deformities was 53% (95% CI 17.5-89.2%; I(2) = 98%; P < 0.01). Knee problems were reported in only one study. Scoliosis prevalence increased in studies with a high percentage of genetic testing and MECP2 positivity [69.1% (95% CI 58.9-79.2%; I(2) = 99%; P < 0.01)], those with a mean age over 13 years [73% (95% CI 59.1-87%; I(2) = 100%; P < 0.01)], and studies combining both variables [80.13% (95% CI 70.8-89.4%; I(2) = 81%; P < 0.01)]. CONCLUSIONS: This meta-analysis found that approximately two in three girls with RTT develop scoliosis, one in two exhibit foot deformities and one in three experience hip displacement. These findings enhance our understanding of the prevalence of orthopaedic conditions in RTT, which can guide the establishment of surveillance protocols, clinical guidelines and management strategies tailored to the needs of RTT patients.

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3. Garcia M, Kelly C. 3D CNN for neuropsychiatry: Predicting Autism with interpretable Deep Learning applied to minimally preprocessed structural MRI data. PLoS One. 2024; 19(10): e0276832.

Predictive modeling approaches are enabling progress toward robust and reproducible brain-based markers of neuropsychiatric conditions by leveraging the power of multivariate analyses of large datasets. While deep learning (DL) offers another promising avenue to further advance progress, there are challenges related to implementation in 3D (best for MRI) and interpretability. Here, we address these challenges and describe an interpretable predictive pipeline for inferring Autism diagnosis using 3D DL applied to minimally processed structural MRI scans. We trained 3D DL models to predict Autism diagnosis using the openly available ABIDE I and II datasets (n = 1329, split into training, validation, and test sets). Importantly, we did not perform transformation to template space, to reduce bias and maximize sensitivity to structural alterations associated with Autism. Our models attained predictive accuracies equivalent to those of previous machine learning (ML) studies, while side-stepping the time- and resource-demanding requirement to first normalize data to a template. Our interpretation step, which identified brain regions that contributed most to accurate inference, revealed regional Autism-related alterations that were highly consistent with the literature, encompassing a left-lateralized network of regions supporting language processing. We have openly shared our code and models to enable further progress towards remaining challenges, such as the clinical heterogeneity of Autism and site effects, and to enable the extension of our method to other neuropsychiatric conditions.

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4. Instanes JT, Solberg BS, Kvalvik LG, Klungsøyr K, Posserud MR, Hartman CA, Haavik J. Organic food consumption during pregnancy and symptoms of neurodevelopmental disorders at 8 years of age in the offspring: the Norwegian Mother, Father and Child Cohort Study (MoBa). BMC Med. 2024; 22(1): 482.

BACKGROUND: Partially driven by public concerns about modern food production practices, organic food has gained popularity among consumers. However, the impact of organic food consumption during pregnancy on offspring health is scarcely studied. We aimed to investigate the association between maternal intake of organic food during pregnancy and symptoms of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in offspring at 8 years of age. METHODS: This study was based on the Norwegian Mother, Father and Child Cohort Study (MoBa) and the Medical Birth Registry of Norway (MBRN). The total study sample included 40,707 mother-child pairs (children born 2002-2009). Organic food consumption during pregnancy was assessed by six questions from a food frequency questionnaire in mid-pregnancy (sum score 0-18). Symptoms of ADHD and ASD in the offspring aged 8 years were measured by ADHD (0-54) and ASD (0-39) symptom scores based on the Parent/Teacher Rating Scale for Disruptive Behaviour disorders and the Social Communication Questionnaire. Associations between maternal intake of organic food during pregnancy and symptoms of ADHD and ASD in the offspring were analyzed using regression models with adjustment for covariates such as maternal anxiety and depression, including sibling analysis. RESULTS: Mean ADHD and ASD symptom scores in the offspring differed only slightly by maternal intake of organic food. The covariate-adjusted unstandardized regression coefficient (adjusted(Adj)beta) with 95% confidence interval for the ADHD symptom score with one unit increase in organic food sum score was 0.03 (0.01, 0.05). Similarly, Adjbeta for autism symptom score was 0.07 (0.04, 0.10). For ADHD, the adjusted estimates weakened when adjusting for maternal symptoms of ADHD. The sibling analyses showed no significant results with Adjbeta - 0.07 (- 0.15, 0.01) and - 0.001 (- 0.12, 0.12) for ADHD and ASD outcomes, respectively. CONCLUSIONS: We observed weak positive associations between frequent maternal organic food consumption during pregnancy and offspring ADHD and ASD symptom levels at 8 years of age. This trend weakened or disappeared after adjusting for maternal symptoms of ADHD, and in sibling analyses, suggesting that the associations mainly reflect genetic confounding. Our study indicates that consumption of organic food during pregnancy should neither be considered a risk factor nor protective against symptoms of ADHD and ASD in offspring.

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5. Isaev AB, Bychkov ML, Kulbatskii DS, Andreev-Andrievskiy AA, Mashkin MA, Shulepko MA, Shlepova OV, Loktyushov EV, Latanov AV, Kirpichnikov MP, Lyukmanova EN. Upregulation of cholinergic modulators Lypd6 and Lypd6b associated with autism drives anxiety and cognitive decline. Cell Death Discov. 2024; 10(1): 444.

Intellectual disability and autistic features are associated with chromosome region 2q23.q23.2 duplication carrying LYPD6 and LYPD6B genes. Here, we analyzed LYPD6 and LYPD6B expression in patients with different neuropsychiatric disorders. Increased LYPD6 and LYPD6B expression was revealed in autism and other disorders. To study possible consequences of Lypd6 and Lypd6b overexpression in the brain, we used a mouse model with intracerebroventricular delivery of recombinant analogs of these proteins. A two-week infusion evoked significant memory impairment and acute stress. Both modulators downregulated hippocampal and amygdala dendritic spine density. No changes in synaptic plasticity were observed. Intracerebroventricular administration by both proteins downregulated hippocampal expression of Lypd6, Lypd6b, and α7 nicotinic acetylcholine receptor (nAChR). Similar to Lypd6, Lypd6b targeted different nAChR subtypes in the brain with preferential inhibition of α7- and α4β2-nAChRs. Thus, increased Lypd6 and Lypd6b level in the brain are linked to cholinergic system depression, neuronal atrophy, memory decline, and anxiety.

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6. Kaiser J, Risteska A, Muller AG, Sun H, Lei B, Nay K, Means AR, Cousin MA, Drewry DH, Oakhill JS, Kemp BE, Hannan AJ, Berk M, Febbraio MA, Gundlach AL, Hill-Yardin EL, Scott JW. Convergence on CaMK4: a key modulator of autism-associated signaling pathways in neurons. Biol Psychiatry. 2024.

Although the precise underlying cause(s) of autism spectrum disorder remain unclear, more than 1000 rare genetic variations are associated with the condition. For a large number of people living with profound autism, this genetic heterogeneity has impeded the identification of common biological targets for therapy development for core and comorbid traits that include significant impairments in social communication, and repetitive and restricted behaviors. A substantial number of genes associated with autism encode proteins involved in signal transduction and synaptic transmission that are critical for brain development and function. CAMK4 is an emerging risk gene for autism spectrum disorder that encodes the Ca(2+)-calmodulin-dependent protein kinase-4 (CaMK4) enzyme. CaMK4 is a key component of a Ca(2+)-activated signaling pathway that regulates neurodevelopment and synaptic plasticity. In this review, we discuss three genetic variants of CAMK4 found in individuals with hyperkinetic movement disorder and comorbid neurological symptoms including autism spectrum disorder that are likely pathogenic with monogenic effect. We also comment on four other genetic variations in CAMK4 that display associations with autism spectrum disorder, as well as twelve examples of autism-associated variations in other genes that impact CaMK4 signaling pathways. Finally, we highlight three environmental risk factors that impact CaMK4 signaling based on studies in preclinical models of autism and/or clinical cohorts. Overall, we review molecular, genetic, physiological, and environmental evidence that suggest defects in the CaMK4 signaling pathway may play an important role in a common autism pathogenesis network across numerous patient groups, and propose CaMK4 as a potential therapeutic target.

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7. Kim DI. The Impact of Regular Physical Activity Participation on Physical Fitness and Problem Behaviors in Children with Autism Spectrum Disorder. Iran J Public Health. 2024; 53(9): 2165-6.

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8. Kofler MJ, Soto EF, Singh LJ, Harmon SL, Jaisle E, Smith JN, Feeney KE, Musser ED. Executive function deficits in attention-deficit/hyperactivity disorder and autism spectrum disorder. Nat Rev Psychol. 2024; 3(10): 701-19.

Executive function deficits have been reported in both autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). However, little is known regarding which, if any, of these impairments are unique vs. shared in children with ADHD versus ASD. In this Review, we provide an overview of the current literature with a critical eye toward diagnostic, measurement, and third-variable considerations that should be leveraged to provide more definitive answers. We conclude that the field’s understanding of ASD and ADHD executive function profiles is highly limited because most research on one disorder has failed to account for their co-occurrence and the presence of symptoms of the other disorder; a vast majority of studies have relied on traditional neuropsychological tests and/or informant-rated executive function scales that have poor specificity and construct validity; and most studies have been unable to account for the well-documented between-person heterogeneity within and across disorders. Currently, the most parsimonious conclusion is that children with ADHD and/or ASD tend to perform moderately worse than neurotypical children on a broad range of neuropsychological tests. However, the extent to which these difficulties are unique vs. shared, or attributable to impairments in specific executive functions subcomponents, remains largely unknown. We end with focused recommendations for future research that we believe will advance this important line of inquiry.

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9. Liu L, Ye Q, Xing Y, Xu Y, Zhu H, Lv S, Zou X, Deng H. Early gesture development as a predictor of autism spectrum disorder in elevated-likelihood infants of ASD. BMC Psychiatry. 2024; 24(1): 710.

BACKGROUND: Gesture difficulties have been reported in later-born siblings of children with autism spectrum disorder (ASD). Careful observation of gesture development during the first two years of children at elevated likelihood (EL) of developing ASD may identify behavioral indicators that facilitate early diagnosis. METHODS: This study enrolled 47 EL infants and 27 low-likelihood (LL) infants to explore gesture developmental trajectories and the predictive value of gesture to expedite the early detection of core characteristics of ASD. Gesture frequency, communication function, and integration ability were observed and coded from a semi-structured assessment administered longitudinally across 9-19 months of age. We conducted the Autism Diagnostic Observation Schedule assessment at 18-19 months for ASD’s core characteristics. RESULTS: The development of joint attention (JA) gestures was slower in the EL than in the LL group. The trajectories of the two groups began to diverge at 14-18 months. Children who reached the diagnostic cutoff point for ASD showed reductions in social interaction gestures at 12-13 months, in gestures integrated with any two communication skills (G-M) at 15-16 months; and in gestures integrated with eye contact (G-E) at 18-19 months. Overall gesture and G-M integration were associated with an overall ADOS communication and social interaction score. CONCLUSIONS: The developmental trajectories of JA gestures of EL and LL children differed. G-M gestures represent early indicators that may be a predictor of ASD.

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10. Obuchi C, Kawase T, Sasame Y, Yamamoto Y, Sasaki K, Iwasaki J, Okamoto H, Kaga K. Traits of Developmental Disorders in Adults With Listening Difficulties Without Diagnosis of Autism Spectrum Disorder And/or Attention-Deficit/Hyperactivity Disorder. J Clin Med. 2024; 13(20).

Background: Some individuals have a normal audiogram but have listening difficulties (LiD). As many studies have investigated the relationship between listening and developmental disorders, the traits of developmental disorders might explain the symptoms of LiD. In this study, we examined the traits of developmental disorders of adults with LiD to help clarify the cause of LiD symptoms. Methods: In total, 60 adults with LiD and 57 adults without LiD were included. Participants completed a questionnaire for the autism spectrum quotient (AQ) test, the Adult Attention-Deficit Hyperactivity Disorder Self-Rating Scale (A-ADHD), the Adolescent/Adult Sensory Profile (SP), and the severity of subjective LiD in daily life. Results: Before analysis, we excluded participants with LiD who were already diagnosed or met the criteria for autism spectrum disorder (ASD) or ADHD, and the results of the remaining 30 participants (50.0%) with LiD were analyzed. Adults with LiD showed higher scores than those without LiD in the AQ. Attention switching in the AQ and attention ability in the A-ADHD scale were correlated with the severity of LiD symptoms in everyday life. The AQ scores were also significantly correlated with subscales of the SP. Conclusions: Adults with LiD showed greater autistic traits than those without LiD; therefore, LiD symptoms are possibly related to autistic symptoms. Furthermore, adults with LiD might have attention disorder traits of both ASD and ADHD and sensory processing problems. These findings suggest that the attention problems in adults with LiD noted in previous studies might be related to these traits of developmental disorders.

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11. Pyszkowska A, Nowacki A, Celban J. The Daydream Spectrum: The Role of Emotional Dysregulation, Internalized Stigma and Self-Esteem in Maladaptive Daydreaming Among Adults With ADHD, ASD, and Double Diagnosis. J Atten Disord. 2024: 10870547241290901.

OBJECTIVE: Maladaptive daydreaming (MD) is characterized by vivid, excessive fantasy activity that becomes prioritized over other activities and may result in avoidant coping strategies. Little is known about the relationship between MD and internalized stigma in the neurodivergent sample. The current study aimed to examine emotional dysregulation, escapism and self-perception (self-esteem and internalized stigma) as potential determinants of MD in three groups: adults on the autism spectrum, with ADHD, and both diagnoses (« AuDHD »), including their neurodivergent symptoms (autistic traits, empathizing, ADHD symptoms). METHODS: A sample of 293 persons (139 with ADHD, 74 on the autism spectrum, and 80 with both diagnoses) completed self-report scales concerning ADHD symptoms, autism spectrum symptoms, empathizing, self-esteem, daydreaming as escapism, emotional dysregulation, maladaptive daydreaming, and internalized stigma. A correlation analysis was implemented. Additionally, a group comparison and quantile regression for the 25th, 50th, and 75th percentile of maladaptive daydreaming in the three groups were executed. RESULTS: The results showed that internalized stigma, emotional dysregulation, escapism, and self-esteem have significant associations with MD in the neurodiverse sample. The ADHD group achieved the lowest scores in emotional dysregulation, discrimination experience, and social withdrawal. The groups did not vary in MD rates, stereotype endorsement, stigma resistance, nonacceptance of emotional responses, and impulse control difficulties. The AuDHD group achieved higher results than the ASD group only in the ADHD symptoms. Quantile regression revealed differences in the predictors of maladaptive daydreaming in the three groups. ADHD symptoms and self-suppression escapism were significant predictors for the higher levels of MD in persons with singular autism or ADHD diagnosis. CONCLUSION: The results showed no differences in MD rates, although there were significant variations in predictive features among the three samples. The role of internalized stigma and self-esteem was highlighted in the results as significant associates of MD prevalence. These outcomes expand the current knowledge in the context of maladaptive daydreaming, internalized stigma, self-esteem and emotional dysregulation in a neurodiverse sample and allow for proposing clinical applications and further research directions.

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12. Suvarna V, Farrell L, Adams D, Emerson LM, Paynter J. Differing relationships between parenting stress, parenting practices and externalising behaviours in autistic children. Autism. 2024: 13623613241287569.

There is much research on parenting stress and child behaviours of autistic children. However, researchers have rarely explored whether how parents raise their children (called ‘parenting practices’) links to parenting stress and child behaviours. This is important, as if we know which parenting practices lead to better outcomes, parents can be supported to use parenting practices that are most helpful to them and/or their child. We asked parents of school-aged children to complete a survey on parenting stress, parenting practices and child behaviours. We found that parents who reported being more stressed (i.e. high levels of parenting stress) reported their children showed more observable behaviours that others find challenging such as aggression. Parents who were more stressed also reported lower mindful parenting (i.e. a style of parenting characterised by being present, non-judgementally in the moment) and were more permissive (e.g. giving in) in their parenting. However, these parenting practices did not impact the link between parenting stress and child behaviours. Results suggest we should focus on ways to reduce parents’ stress, which could include changing parenting practices which is consistent with strengths-based, neurodiversity-affirming approaches.

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13. 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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14. Wang S, Sun Z, Martinez-Tejada LA, Yoshimura N. Comparison of autism spectrum disorder subtypes based on functional and structural factors. Front Neurosci. 2024; 18: 1440222.

Autism spectrum disorder (ASD) is a series of neurodevelopmental disorders that may affect a patient’s social, behavioral, and communication abilities. As a typical mental illness, ASD is not a single disorder. ASD is often divided into subtypes, such as autism, Asperger’s, and pervasive developmental disorder-not otherwise specified (PDD-NOS). Studying the differences among brain networks of the subtypes has great significance for the diagnosis and treatment of ASD. To date, many studies have analyzed the brain activity of ASD as a single mental disorder, whereas few have focused on its subtypes. To address this problem, we explored whether indices derived from functional and structural magnetic resonance imaging (MRI) data exhibited significant dissimilarities between subtypes. Utilizing a brain pattern feature extraction method from fMRI based on tensor decomposition, amplitude of low-frequency fluctuation and its fractional values of fMRI, and gray matter volume derived from MRI, impairments of function in the subcortical network and default mode network of autism were found to lead to major differences from the other two subtypes. Our results provide a systematic comparison of the three common ASD subtypes, which may provide evidence for the discrimination between ASD subtypes.

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15. Wang YZ, Zhang JK, Zhang F, Jiang XH, Zheng H, Ma BX. [Rett syndrome-like phenotype caused by EEF1A2 gene in 2 children]. Zhonghua Er Ke Za Zhi. 2024; 62(11): 1113-5.

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