Proc 2023 7th Int Conf Med Health Inform ICMHI 2023 (2023). 2023 May;2023:55-60. doi: 10.1145/3608298.3608309. Epub 2023 Oct 18.

ABSTRACT

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized in part by difficulties in verbal and nonverbal social communication. Evidence indicates that autistic people, compared to neurotypical peers, exhibit differences in head movements, a key form of nonverbal communication. Despite the crucial role of head movements in social communication, research on this nonverbal cue is relatively scarce compared to other forms of nonverbal communication, such as facial expressions and gestures. There is a need for scalable, reliable, and accurate instruments for measuring head movements directly within the context of social interactions. In this study, we used computer vision and machine learning to examine the head movement patterns of neurotypical and autistic individuals during naturalistic, face-to-face conversations, at both the individual (monadic) and interpersonal (dyadic) levels. Our model predicts diagnostic status using dyadic head movement data with an accuracy of 80%, highlighting the value of head movement as a marker of social communication. The monadic data pipeline had lower accuracy (69.2%) compared to the dyadic approach, emphasizing the importance of studying back-and-forth social communication cues within a true social context. The proposed classifier is not intended for diagnostic purposes, and future research should replicate our findings in larger, more representative samples.

PMID:38699395 | PMC:PMC11064057 | DOI:10.1145/3608298.3608309

medRxiv [Preprint]. 2024 Apr 16:2024.04.13.24305713. doi: 10.1101/2024.04.13.24305713.

ABSTRACT

Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated the sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals, then compared effect sizes between individuals with and without cognitive impairment or motor delay. Although these variants mediated differential likelihood of autism with versus without motor or cognitive impairment, their effect sizes on the liability scale did not differ significantly by sex exome-wide or in genes sex-differentially expressed in the cortex. Although de novo mutations were enriched in genes with male-biased expression in the fetal cortex, the liability they conferred did not differ significantly from other genes with similar loss-of-function intolerance and sex-averaged cortical expression. In summary, autosomal rare coding variants confer similar liability for autism in females and males.

PMID:38699304 | PMC:PMC11065020 | DOI:10.1101/2024.04.13.24305713

Hist Human Sci. 2024 Apr;37(2):117-137. doi: 10.1177/09526951241238650. Epub 2024 Mar 31.

ABSTRACT

This article examines three films made during the 1950s by Elwyn James Anthony at the psychotic clinic for children at the Maudsley Hospital that marked an important transition in the purpose and practice of visual documentation in a clinical setting: film as a research tool was transitioning from the recording of external signs as indicators of internal subjective states, to the capture of the visual flow of communication between subjects. It is a shift that had a particular impact on the emergent classification of autism, a modality not yet properly separated from the broader term of psychosis, as a non-relational condition whose visual capture demonstrated a void of inter-human communicational exchange. Film was significant not only as a recording apparatus, but as a method of cutting and crafting sequences of movements into brief repetitive motifs. The filmed behaviour of children remained opaque to interpretation, a 'finding' that facilitated the modelling of an emergent autism as subjects who were isolated, alienated and automaton-like, inhabiting a separate temporality. The article situates this 'second', affectless autism, within a broader context of post-war research into gestures as a language of the body, developed largely through an intellectual network of German émigré psychoanalysts who had fled to the US and UK in the 1930s.

PMID:38698898 | PMC:PMC11060935 | DOI:10.1177/09526951241238650

Mol Autism. 2024 May 2;15(1):18. doi: 10.1186/s13229-024-00600-w.

ABSTRACT

BACKGROUND: Adolescence coincides with a dramatic rise in the onset of psychiatric conditions including depression. Depression symptoms may be particularly prevalent and impairing for youth with autism spectrum disorder (ASD). While prior research suggests adolescence is associated with worsening depression symptoms for typically developing (TD) and autistic youth, it is unclear if they follow a similar course.

METHOD: The study examined the trajectory of depressive symptoms in autistic and neurotypical youth over a 4-year longitudinal study using linear and logistic mixed effects models. In youth with clinically relevant depressive scores (t-score > 65), moderating factors (i.e., diagnosis, age, puberty, sex) were explored. During Year 1, the sample included 244 youth 10-to-13 years: 140 in the ASD group (36 females) and 104 in the TD group (46 females).

RESULTS: Autistic youth had elevated depression scores compared to TD peers (p < 0.001) and females were higher than males in both groups (p = 0.001). There was significant diagnosis by age (p < 0.001) and diagnosis by pubertal stage (p < 0.05) interactions. In the ASD group, elevated depressive scores presented in early adolescence and decreased during middle adolescence and puberty, whereas the TD group showed the opposite trend with an increase in depression symptoms with advancing development.

LIMITATIONS: Limitations include an unequal sex distribution (fewer females), non-representative autistic sample (e.g., cognition and race/ethnicity), and potential confound of the COVID-19 pandemic.

CONCLUSIONS: Autistic youth present with higher rates of depressive symptoms early in development; yet, approaching middle adolescence and puberty, the symptom trajectory in the autistic youth declines coinciding with an increase in the TD youth. While group trajectories are divergent, they lead to similar levels of depression in late adolescence with higher symptoms in females. Findings suggest a period of quiescence in depressive symptomology influenced by biopsychosocial factors impacting affective profiles.

PMID:38698474 | DOI:10.1186/s13229-024-00600-w

J Autism Dev Disord. 2024 May 2. doi: 10.1007/s10803-024-06332-3. Online ahead of print.

ABSTRACT

Tools to measure autism knowledge are needed to assess levels of understanding within particular groups of people and to evaluate whether awareness-raising campaigns or interventions lead to improvements in understanding. Several such measures are in circulation, but, to our knowledge, there are no psychometrically-validated questionnaires that assess contemporary autism knowledge suitable to the UK context. We aimed to produce a brief measure to assess between-respondent variability and within-respondent change over time. A pool of questionnaire items was developed and refined through a multi-stage iterative process involving autism experts and a lay sample. Attention was paid to face validity, clarity, consensus on correct responses, and appropriate difficulty levels. Initial validation data was obtained from a lay sample of 201 people. Difficulty and discrimination ability were assessed using item response theory and low-performing items were removed. Dimensionality was evaluated with exploratory factor analysis, which revealed a one-factor structure of the questionnaire. Further items were removed where they did not load strongly on their main factor. This process resulted in a final 14-item questionnaire called the Knowledge of Autism Questionnaire-UK. Internal consistency was satisfactory, and the final questionnaire was able to distinguish between parents of autistic people and those without an affiliation to autism. The KAQ-UK is a new, freely-available measure of autism knowledge that could be used to assess between-respondent variability and within-respondent change over time. Further evaluation and validation of its measurement properties are required.

PMID:38698297 | DOI:10.1007/s10803-024-06332-3

Npj Ment Health Res. 2024 May 2;3(1):15. doi: 10.1038/s44184-023-00050-x.

ABSTRACT

The application of deep learning models to precision medical diagnosis often requires the aggregation of large amounts of medical data to effectively train high-quality models. However, data privacy protection mechanisms make it difficult to perform medical data collection from different medical institutions. In autism spectrum disorder (ASD) diagnosis, automatic diagnosis using multimodal information from heterogeneous data has not yet achieved satisfactory performance. To address the privacy preservation issue as well as to improve ASD diagnosis, we propose a deep learning framework using multimodal feature fusion and hypergraph neural networks for disease prediction in federated learning (FedHNN). By introducing the federated learning strategy, each local model is trained and computed independently in a distributed manner without data sharing, allowing rapid scaling of medical datasets to achieve robust and scalable deep learning predictive models. To further improve the performance with privacy preservation, we improve the hypergraph model for multimodal fusion to make it suitable for autism spectrum disorder (ASD) diagnosis tasks by capturing the complementarity and correlation between modalities through a hypergraph fusion strategy. The results demonstrate that our proposed federated learning-based prediction model is superior to all local models and outperforms other deep learning models. Overall, our proposed FedHNN has good results in the work of using multi-site data to improve the performance of ASD identification.

PMID:38698164 | DOI:10.1038/s44184-023-00050-x

Brain Stimul. 2024 Apr 30:S1935-861X(24)00081-0. doi: 10.1016/j.brs.2024.04.019. Online ahead of print.

ABSTRACT

BACKGROUND: Individuals with autism spectrum disorder (ASD) have inhibitory control deficits. The combination of transcranial direct current stimulation (tDCS) and inhibitory control training produces good transfer effects and improves neuroplasticity. However, no studies have explored whether applying tDCS over the dlPFC improves inhibitory control and produces transfer effects in children with ASD.

OBJECTIVE: To explore whether multisession tDCS could enhance inhibitory control training (response inhibition), near-transfer (interference control) and far-transfer effects (sustained attention; stability of attention) in children with ASD and the generalizability of training effects in daily life and the classroom, as reflected by behavioral performance and neural activity measured by functional near-infrared spectroscopy (fNIRS).

METHODS: Twenty-eight autistic children were randomly assigned to either the true or sham tDCS group. The experimental group received bifrontal tDCS stimulation at 1.5 mA, administered for 15 minutes daily across eight consecutive days. tDCS was delivered during a computerized Go/No-go training task. Behavioral performance in terms of inhibitory control (Dog/Monkey and Day/Night Stroop tasks), sustained attention (Continuous Performance and Cancellation tests), prefrontal cortex (PFC) neural activity and inhibitory control and sustained attention in the classroom and at home were evaluated.

RESULTS: Training (response inhibition) and transfer effects (interference control; sustained attention) were significantly greater after receiving tDCS during the Go/No-go training task than after receiving sham tDCS. Changes in oxyhemoglobin (HbO) concentrations in the dlPFC associated with consistent conditions in the Day/Night Stroop and Continuous Performance test were observed after applying tDCS during the inhibitory control training task. Notably, transfer effects can be generalized to classroom environments.

CONCLUSION: Inhibitory control training combined with tDCS may be a promising, safe, and effective method for improving inhibitory control and sustained attention in children with autism.

PMID:38697468 | DOI:10.1016/j.brs.2024.04.019

Cereb Cortex. 2024 May 2;34(13):63-71. doi: 10.1093/cercor/bhae081.

ABSTRACT

To investigate potential correlations between the susceptibility values of certain brain regions and the severity of disease or neurodevelopmental status in children with autism spectrum disorder (ASD), 18 ASD children and 15 healthy controls (HCs) were recruited. The neurodevelopmental status was assessed by the Gesell Developmental Schedules (GDS) and the severity of the disease was evaluated by the Autism Behavior Checklist (ABC). Eleven brain regions were selected as regions of interest and the susceptibility values were measured by quantitative susceptibility mapping. To evaluate the diagnostic capacity of susceptibility values in distinguishing ASD and HC, the receiver operating characteristic (ROC) curve was computed. Pearson and Spearman partial correlation analysis were used to depict the correlations between the susceptibility values, the ABC scores, and the GDS scores in the ASD group. ROC curves showed that the susceptibility values of the left and right frontal white matter had a larger area under the curve in the ASD group. The susceptibility value of the right globus pallidus was positively correlated with the GDS-fine motor scale score. These findings indicated that the susceptibility value of the right globus pallidus might be a viable imaging biomarker for evaluating the neurodevelopmental status of ASD children.

PMID:38696609 | DOI:10.1093/cercor/bhae081

Cereb Cortex. 2024 May 2;34(13):146-160. doi: 10.1093/cercor/bhad501.

ABSTRACT

Autism spectrum disorder is a neurodevelopmental disability that includes sensory disturbances. Hearing is frequently affected and ranges from deafness to hypersensitivity. In utero exposure to the antiepileptic valproic acid is associated with increased risk of autism spectrum disorder in humans and timed valproic acid exposure is a biologically relevant and validated animal model of autism spectrum disorder. Valproic acid-exposed rats have fewer neurons in their auditory brainstem and thalamus, fewer calbindin-positive neurons, reduced ascending projections to the midbrain and thalamus, elevated thresholds, and delayed auditory brainstem responses. Additionally, in the auditory cortex, valproic acid exposure results in abnormal responses, decreased phase-locking, elevated thresholds, and abnormal tonotopic maps. We therefore hypothesized that in utero, valproic acid exposure would result in fewer neurons in auditory cortex, neuronal dysmorphology, fewer calbindin-positive neurons, and reduced connectivity. We approached this hypothesis using morphometric analyses, immunohistochemistry, and retrograde tract tracing. We found thinner cortical layers but no changes in the density of neurons, smaller pyramidal and non-pyramidal neurons in several regions, fewer neurons immunoreactive for calbindin-positive, and fewer cortical neurons projecting to the inferior colliculus. These results support the widespread impact of the auditory system in autism spectrum disorder and valproic acid-exposed animals and emphasize the utility of simple, noninvasive auditory screening for autism spectrum disorder.

PMID:38696608 | DOI:10.1093/cercor/bhad501

Cereb Cortex. 2024 May 2;34(13):40-49. doi: 10.1093/cercor/bhae089.

ABSTRACT

Attentional reorienting is dysfunctional not only in children with autism spectrum disorder (ASD), but also in infants who will develop ASD, thus constituting a potential causal factor of future social interaction and communication abilities. Following the research domain criteria framework, we hypothesized that the presence of subclinical autistic traits in parents should lead to atypical infants' attentional reorienting, which in turn should impact on their future socio-communication behavior in toddlerhood. During an attentional cueing task, we measured the saccadic latencies in a large sample (total enrolled n = 89; final sample n = 71) of 8-month-old infants from the general population as a proxy for their stimulus-driven attention. Infants were grouped in a high parental traits (HPT; n = 23) or in a low parental traits (LPT; n = 48) group, according to the degree of autistic traits self-reported by their parents. Infants (n = 33) were then longitudinally followed to test their socio-communicative behaviors at 21 months. Results show a sluggish reorienting system, which was a longitudinal predictor of future socio-communicative skills at 21 months. Our combined transgenerational and longitudinal findings suggest that the early functionality of the stimulus-driven attentional network-redirecting attention from one event to another-could be directly connected to future social and communication development.

PMID:38696607 | DOI:10.1093/cercor/bhae089

Cereb Cortex. 2024 May 2;34(13):172-186. doi: 10.1093/cercor/bhae060.

ABSTRACT

Individuals with autism spectrum disorder (ASD) experience pervasive difficulties in processing social information from faces. However, the behavioral and neural mechanisms underlying social trait judgments of faces in ASD remain largely unclear. Here, we comprehensively addressed this question by employing functional neuroimaging and parametrically generated faces that vary in facial trustworthiness and dominance. Behaviorally, participants with ASD exhibited reduced specificity but increased inter-rater variability in social trait judgments. Neurally, participants with ASD showed hypo-activation across broad face-processing areas. Multivariate analysis based on trial-by-trial face responses could discriminate participant groups in the majority of the face-processing areas. Encoding social traits in ASD engaged vastly different face-processing areas compared to controls, and encoding different social traits engaged different brain areas. Interestingly, the idiosyncratic brain areas encoding social traits in ASD were still flexible and context-dependent, similar to neurotypicals. Additionally, participants with ASD also showed an altered encoding of facial saliency features in the eyes and mouth. Together, our results provide a comprehensive understanding of the neural mechanisms underlying social trait judgments in ASD.

PMID:38696606 | DOI:10.1093/cercor/bhae060

Cereb Cortex. 2024 May 2;34(13):72-83. doi: 10.1093/cercor/bhae069.

ABSTRACT

Autism spectrum disorder has been emerging as a growing public health threat. Early diagnosis of autism spectrum disorder is crucial for timely, effective intervention and treatment. However, conventional diagnosis methods based on communications and behavioral patterns are unreliable for children younger than 2 years of age. Given evidences of neurodevelopmental abnormalities in autism spectrum disorder infants, we resort to a novel deep learning-based method to extract key features from the inherently scarce, class-imbalanced, and heterogeneous structural MR images for early autism diagnosis. Specifically, we propose a Siamese verification framework to extend the scarce data, and an unsupervised compressor to alleviate data imbalance by extracting key features. We also proposed weight constraints to cope with sample heterogeneity by giving different samples different voting weights during validation, and used Path Signature to unravel meaningful developmental features from the two-time point data longitudinally. We further extracted machine learning focused brain regions for autism diagnosis. Extensive experiments have shown that our method performed well under practical scenarios, transcending existing machine learning methods and providing anatomical insights for autism early diagnosis.

PMID:38696605 | DOI:10.1093/cercor/bhae069

Cereb Cortex. 2024 May 2;34(13):1-7. doi: 10.1093/cercor/bhae097.

ABSTRACT

Adolescence has been characterized as a period of risky and possibly suboptimal decision-making, yet the development of decision-making in autistic adolescents is not well understood. To investigate decision-making in autism, we evaluated performance on 2 computerized tasks capturing decision-making under explicit risk and uncertainty in autistic and non-autistic adolescents/young adults ages 12-22 years. Participants completed the Game of Dice Task (32 IQ-matched participant pairs) to assess decision-making under explicit risk and the modified Iowa Gambling Task (35 IQ-matched pairs) to assess decision-making under uncertainty. Autistic participants overall made riskier decisions than non-autistic participants on the Game of Dice Task, and the odds of making riskier decisions varied by age and IQ. In contrast, the autistic group showed comparable levels of learning over trial blocks to the non-autistic group on the modified Iowa Gambling Task. For both tasks, younger autistic participants performed poorer than their non-autistic counterparts, while group differences diminished in older ages. This age-related pattern suggests positive development during adolescence on risk assessment and decision-making in autism but also implies differential developmental trajectories between groups. These findings also suggest differential performance by the risk type, with additional complex influences of IQ and fluid cognition, which warrants further investigations.

PMID:38696604 | DOI:10.1093/cercor/bhae097

Cereb Cortex. 2024 May 2;34(13):104-111. doi: 10.1093/cercor/bhae027.

ABSTRACT

Autism is characterized by atypical social communication styles. To investigate whether individuals with high autistic traits could still have effective social communication among each other, we compared the behavioral patterns and communication quality within 64 dyads of college students paired with both high, both low, and mixed high-low (HL) autistic traits, with their gender matched. Results revealed that the high-high (HH) autistic dyads exhibited atypical behavioral patterns during conversations, including reduced mutual gaze, communicational turns, and emotional sharing compared with the low-low and/or HL autistic dyads. However, the HH autistic dyads displayed enhanced interpersonal neural synchronization during social communications measured by functional near-infrared spectroscopy, suggesting an effective communication style. Besides, they also provided more positive subjective evaluations of the conversations. These findings highlight the potential for alternative pathways to effectively communicate with the autistic community, contribute to a deeper understanding of how high autistic traits influence social communication dynamics among autistic individuals, and provide important insights for the clinical practices for supporting autistic people.

PMID:38696603 | DOI:10.1093/cercor/bhae027

Cereb Cortex. 2024 May 2;34(13):8-18. doi: 10.1093/cercor/bhae096.

ABSTRACT

Noninvasive brain stimulation (NIBS) has been increasingly investigated during the last decade as a treatment option for persons with autism spectrum disorder (ASD). Yet, previous studies did not reach a consensus on a superior treatment protocol or stimulation target. Persons with ASD often suffer from social isolation and high rates of unemployment, arising from difficulties in social interaction. ASD involves multiple neural systems involved in perception, language, and cognition, and the underlying brain networks of these functional domains have been well documented. Aiming to provide an overview of NIBS effects when targeting these neural systems in late adolescent and adult ASD, we conducted a systematic search of the literature starting at 631 non-duplicate publications, leading to six studies corresponding with inclusion and exclusion criteria. We discuss these studies regarding their treatment rationale and the accordingly chosen methodological setup. The results of these studies vary, while methodological advances may allow to explain some of the variability. Based on these insights, we discuss strategies for future clinical trials to personalize the selection of brain stimulation targets taking into account intersubject variability of brain anatomy as well as function.

PMID:38696602 | DOI:10.1093/cercor/bhae096

Cereb Cortex. 2024 May 2;34(13):121-128. doi: 10.1093/cercor/bhad268.

ABSTRACT

Previous studies in autism spectrum disorder demonstrated an increased number of excitatory pyramidal cells and a decreased number of inhibitory parvalbumin+ chandelier interneurons in the prefrontal cortex of postmortem brains. How these changes in cellular composition affect the overall abundance of excitatory and inhibitory synapses in the cortex is not known. Herein, we quantified the number of excitatory and inhibitory synapses in the prefrontal cortex of 10 postmortem autism spectrum disorder brains and 10 control cases. To identify excitatory synapses, we used VGlut1 as a marker of the presynaptic component and postsynaptic density protein-95 as marker of the postsynaptic component. To identify inhibitory synapses, we used the vesicular gamma-aminobutyric acid transporter as a marker of the presynaptic component and gephyrin as a marker of the postsynaptic component. We used Puncta Analyzer to quantify the number of co-localized pre- and postsynaptic synaptic components in each area of interest. We found an increase in the number of excitatory synapses in upper cortical layers and a decrease in inhibitory synapses in all cortical layers in autism spectrum disorder brains compared with control cases. The alteration in the number of excitatory and inhibitory synapses could lead to neuronal dysfunction and disturbed network connectivity in the prefrontal cortex in autism spectrum disorder.

PMID:38696601 | DOI:10.1093/cercor/bhad268

Cereb Cortex. 2024 May 2;34(13):19-29. doi: 10.1093/cercor/bhae093.

ABSTRACT

While fronto-posterior underconnectivity has often been reported in autism, it was shown that different contexts may modulate between-group differences in functional connectivity. Here, we assessed how different task paradigms modulate functional connectivity differences in a young autistic sample relative to typically developing children. Twenty-three autistic and 23 typically developing children aged 6 to 15 years underwent functional magnetic resonance imaging (fMRI) scanning while completing a reasoning task with visuospatial versus semantic content. We observed distinct connectivity patterns in autistic versus typical children as a function of task type (visuospatial vs. semantic) and problem complexity (visual matching vs. reasoning), despite similar performance. For semantic reasoning problems, there was no significant between-group differences in connectivity. However, during visuospatial reasoning problems, we observed occipital-occipital, occipital-temporal, and occipital-frontal over-connectivity in autistic children relative to typical children. Also, increasing the complexity of visuospatial problems resulted in increased functional connectivity between occipital, posterior (temporal), and anterior (frontal) brain regions in autistic participants, more so than in typical children. Our results add to several studies now demonstrating that the connectivity alterations in autistic relative to neurotypical individuals are much more complex than previously thought and depend on both task type and task complexity and their respective underlying cognitive processes.

PMID:38696600 | DOI:10.1093/cercor/bhae093

Cereb Cortex. 2024 May 2;34(13):30-39. doi: 10.1093/cercor/bhae092.

ABSTRACT

The amygdala undergoes a period of overgrowth in the first year of life, resulting in enlarged volume by 12 months in infants later diagnosed with ASD. The overgrowth of the amygdala may have functional consequences during infancy. We investigated whether amygdala connectivity differs in 12-month-olds at high likelihood (HL) for ASD (defined by having an older sibling with autism), compared to those at low likelihood (LL). We examined seed-based connectivity of left and right amygdalae, hypothesizing that the HL and LL groups would differ in amygdala connectivity, especially with the visual cortex, based on our prior reports demonstrating that components of visual circuitry develop atypically and are linked to genetic liability for autism. We found that HL infants exhibited weaker connectivity between the right amygdala and the left visual cortex, as well as between the left amygdala and the right anterior cingulate, with evidence that these patterns occur in distinct subgroups of the HL sample. Amygdala connectivity strength with the visual cortex was related to motor and communication abilities among HL infants. Findings indicate that aberrant functional connectivity between the amygdala and visual regions is apparent in infants with genetic liability for ASD and may have implications for early differences in adaptive behaviors.

PMID:38696599 | DOI:10.1093/cercor/bhae092

Cereb Cortex. 2024 May 2;34(13):84-93. doi: 10.1093/cercor/bhae066.

ABSTRACT

Multimodal integration is crucial for human interaction, in particular for social communication, which relies on integrating information from various sensory modalities. Recently a third visual pathway specialized in social perception was proposed, which includes the right superior temporal sulcus (STS) playing a key role in processing socially relevant cues and high-level social perception. Importantly, it has also recently been proposed that the left STS contributes to audiovisual integration of speech processing. In this article, we propose that brain areas along the right STS that support multimodal integration for social perception and cognition can be considered homologs to those in the left, language-dominant hemisphere, sustaining multimodal integration of speech and semantic concepts fundamental for social communication. Emphasizing the significance of the left STS in multimodal integration and associated processes such as multimodal attention to socially relevant stimuli, we underscore its potential relevance in comprehending neurodevelopmental conditions characterized by challenges in social communication such as autism spectrum disorder (ASD). Further research into this left lateral processing stream holds the promise of enhancing our understanding of social communication in both typical development and ASD, which may lead to more effective interventions that could improve the quality of life for individuals with atypical neurodevelopment.

PMID:38696598 | DOI:10.1093/cercor/bhae066

Cereb Cortex. 2024 May 2;34(13):94-103. doi: 10.1093/cercor/bhae050.

ABSTRACT

Autism (or autism spectrum disorder) was initially defined as a psychiatric disorder, with the likely cause maternal behavior (the very destructive "refrigerator mother" theory). It took several decades for research into brain mechanisms to become established. Both neuropathological and imaging studies found differences in the cerebellum in autism spectrum disorder, the most widely documented being a decreased density of Purkinje cells in the cerebellar cortex. The popular interpretation of these results is that cerebellar neuropathology is a critical cause of autism spectrum disorder. We challenge that view by arguing that if fewer Purkinje cells are critical for autism spectrum disorder, then any condition that causes the loss of Purkinje cells should also cause autism spectrum disorder. We will review data on damage to the cerebellum from cerebellar lesions, tumors, and several syndromes (Joubert syndrome, Fragile X, and tuberous sclerosis). Collectively, these studies raise the question of whether the cerebellum really has a role in autism spectrum disorder. Autism spectrum disorder is now recognized as a genetically caused developmental disorder. A better understanding of the genes that underlie the differences in brain development that result in autism spectrum disorder is likely to show that these genes affect the development of the cerebellum in parallel with the development of the structures that do underlie autism spectrum disorder.

PMID:38696597 | DOI:10.1093/cercor/bhae050