current research on autistic spectrum disorder

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• v.58(6); 2023 Nov
• PMC10724724

Autism Spectrum Disorder in 2023: A Challenge Still Open

Annio posar.

1 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOSI Disturbi dello Spettro Autistico, Bologna, Italy

2 Department of Biomedical and Neuromotor Sciences, Bologna University, Bologna, Italy

Paola Visconti

In this paper, we provide an update on autism spectrum disorder (ASD), including epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs, onset patterns, neuropsychological hypotheses, treatments, and long-term outcome. The prevalence of this condition has increased enormously over the last few decades. This increase prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases, numerous pathogenetic mechanisms have been hypothesized. Among these, we mention oxidative stress, mitochondrial dysfunction, alteration of the intestinal microbiota, immune dysregulation, and neuroinflammation. These pathogenetic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Inherent in the term spectrum is the great clinical heterogeneity of this condition, mainly due to the frequent comorbidity that characterizes it. The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. In this sense, the role of pediatricians can be decisive in making children with signs suggestive of autism undergo a specialist diagnostic course. The development of increasingly advanced cognitive-behavioral educational techniques has considerably improved the prognosis of affected individuals, even though only a small minority of them come off the autistic spectrum. Pharmacological therapies are used to treat comorbidities. During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning.

Introduction

According to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) is an early-onset, mostly lifelong condition characterized by persisting deficits in social-communication skills (including social-emotional reciprocity, nonverbal communication, and developing/maintaining relationships) and restricted, repetitive behaviors (including stereotypies, insistence on sameness, highly restricted and fixated interests, and sensory abnormalities). Symptoms are present early in development and cause significant impairments in social and occupational functioning. ASD symptoms are not better explained by intellectual disability or global developmental delay, and this is a very important concept in order to avoid confusing these conditions. However, ASD often co-occurs with intellectual disability; comorbid diagnoses of ASD and intellectual disability are possible only when social communication skills are lower than expected in relation to the general developmental level. According to DSM-5, 3 levels of severity of ASD have been established: level 1 (requiring support), level 2 (requiring substantial support), and level 3 (requiring very substantial support). 1 The choice made in the DSM-5 to cancel the subdivision into the 5 diagnostic categories established by the DSM-IV (autistic disorder, Rett’s disorder, childhood disintegrative disorder, Asperger’s disorder, and pervasive developmental disorder not otherwise specified), 2 unifying everything under the term ASD, 1 has not been without criticism, and it is hoped that it will be corrected in the next edition of the DSM. 3 Despite various attempts to find a biological marker, today, the diagnosis of ASD is still based solely on clinical criteria. 1

From a historical perspective, the first reports of children with autism have been till today attributed by most authors to Leo Kanner (1943) 4 and Hans Asperger (1944), 5 but in reality, the first to describe this condition in a scientific journal was a woman, Grunya Efimovna Sukhareva, who in 1926 reported 6 boys with autism (which today would be defined “high functioning”), providing a lot of clinical details, including sensory abnormalities, 6 , 7 which acquired their proper weight only in the DSM-5’s description of ASD. 1

As concerns ASD etiopathogenesis, while in the past the psychogenetic theories prevailed, today we know that ASD is a condition with a neurobiological basis. The etiology is multifactorial and is characterized by an interaction between genetic and environmental factors. 8

In this narrative review, we aim to provide an update about this condition, considering epidemiology, etiopathogenesis, clinical presentation, instrumental investigations, early signs and onset patterns, neuropsychological hypotheses, treatments, and long-term outcome.

Epidemiology and Etiopathogenesis of Autism Spectrum Disorder

According to the most recent epidemiological studies carried out in the United States, ASD recurs in 1 in 36 children at age 8, and it is about 4 times more frequent among males than females. 9 The prevalence of this condition has increased enormously over the last few decades; This increase would be to some extent apparent as there is now greater awareness of this condition, but it would be largely real. 10 This last aspect prompted a search for possible environmental factors whose effects would add up to a genetic predisposition leading to the development of autism. 8 Indeed, early exposure, in particular during pregnancy and in the first year of extrauterine life, to air pollutants (especially particulate matter with an aerodynamic diameter ≤2.5 μm) 11 or to agricultural pesticides 12 is associated with a higher risk for ASD.

But the genetic and environmental variables involved are extremely numerous, and conclusive data regarding the etiopathogenesis of ASD are still far away. Assuming that a well-defined etiology is still found today only in a minority of cases with ASD, numerous pathogenetic mechanisms have been hypothesized and supported by interesting data. Among these mechanisms, we mention oxidative stress, 13 , 14 mitochondrial dysfunction, 15 alteration of the gut microbiota (see the wide variety of microorganisms colonizing the human gastrointestinal tract), 16 immune dysregulation, 17 and neuroinflammation. 14 Note that these mechanisms are not mutually exclusive but could act in synergy with each other, leading to the development of ASD. 8 In reality, the true meaning of the alterations to these mechanisms has yet to be understood. Let us take the example of the gut microbiota: are the alterations found in subjects with ASD the cause of the disorder or its consequence, taking into account the food selectivity they often display and their propensity to bring inedible objects to their mouths? 18

A key to understanding how these pathogenetic mechanisms could act is given by the concept of epigenetics. Epigenetics is a crucial gene regulation system based on chemical changes in DNA and histone proteins without altering the sequence of DNA. The abovementioned pathogenic mechanisms could alter epigenetic status and gene expression, finally leading to ASD. Also, some environmental factors, including heavy metals (e.g., lead) and endocrine disrupting chemicals (e.g., pesticides), could directly or indirectly modify the epigenetic status. 19 , 20

However, the fact that, according to the most recent studies, the prevalence of ASD in males is confirmed (male-to-female ratio = 3.8) 9 suggests that, in the etiopathogenesis of the disorder, genetics still outweighs acquired factors.

We dedicate a last mention to the so-called syndromic autism. It describes the minority of individuals with ASD who present comorbid features and/or a putative genetic etiology. This concept has been deeply criticized, also because it has no single definition, and is probably destined to fall into disuse. 21 We have preferred not to use it in this review.

Heterogeneity of Autism Spectrum Disorder Clinical Presentation

Inherent in the term “spectrum” is the great clinical heterogeneity of this condition. The range of possible impairments in ASD goes from severe disability with almost complete absence of personal autonomy to a so-called high-functioning condition in which the individual can have normal or even higher-than-normal intellectual functioning and can play a role of responsibility in the social context. 3 The considerable heterogeneity of the ASD clinical picture is mainly due to the frequent comorbidity that characterizes it. Intellectual disability, attention-deficit/hyperactivity disorder (ADHD), insomnia, mood disorders, and epilepsy are just some of the possible neuropsychiatric comorbidities. Also, medical comorbidities, in particular gastroenterological ones (including celiac disease), can complicate the clinical picture of individuals with ASD. 3 , 22

Another element of clinical heterogeneity is given by the possible presence of sensory abnormalities that are very often found in subjects with ASD, especially in the first years of life, leading to a distortion of the perception of reality and representing the possible key to understanding many of their atypical behaviors (e.g., attraction to artificial lights, annoyance for crowded environments, food selectivity) and also of the so-called challenging behaviors (e.g., auto- or hetero-aggressiveness, throwing things, tantrums). 23 An impairment of multimodal integration (i.e., the ability to integrate information coming from different sensory channels: visual, auditory, somatosensory, etc.) has also been implicated. 23 In this regard, functional magnetic resonance imaging studies have highlighted elements that suggest an alteration of brain long-range connectivity in individuals with ASD, 24 which could lead precisely to an impairment of this integration capacity.

Instrumental Investigations in Individuals with Autism Spectrum Disorder

From the point of view of the etiological diagnosis, nowadays it seems essential to carry out the following investigations: hearing evaluation through behavioral audiometry or, if not possible, through an auditory brainstem response (ABR) test; genetic tests (array-based comparative genomic hybridization, or array CGH; in males, molecular search for fragile X syndrome; and in some cases, next generation sequencing); electroencephalogram possibly also during sleep, even in the absence of overt clinical seizures, in particular to rule out electroclinical conditions such as continuous spikes and waves during slow sleep (CSWS), which are potentially treatable with a drug therapy. 25 Common neuroimaging techniques, and in particular brain magnetic resonance imaging, are usually normal or at most show nonspecific findings; 26 therefore, they should be performed only in some cases, including: a clinical history characterized by marked and persisting neurocognitive deterioration; the presence of clear neurological signs (macrocrania or microcrania, cerebral palsy, dystonia, etc.); a genetic condition that notoriously predisposes to a brain malformation; epileptic seizures; an electroencephalogram showing relevant alterations such as focal paroxysmal abnormalities or asymmetries of the electrogenesis. At the conclusion of the etiological workup, genetic counseling is recommendable, even though instrumental investigations have not shown any significant results, aiming also at calculating the risk of recurrence of ASD (or other neurodevelopmental disorders) in the family.

Early Signs and Onset Patterns of Autism Spectrum Disorder

A reasonable diagnostic suspicion of ASD can usually be placed around 18 months of age, while a definitive diagnosis of ASD can commonly be made within 3 years of age. There are several tools for early screening of ASD; one of the most used is still today the Modified Checklist for Autism in Toddlers (M-CHAT). 27 To make the final diagnosis of ASD as objective as possible, standardized assessment tools are used today, such as the Autism Diagnostic Observation Schedule—Second Edition (ADOS-2), 28 and Autism Diagnostic Interview—Revised (ADI-R). 29 In this context, the time factor is very important. 27 The earlier the diagnosis is made and the earlier psychoeducational treatment begins, the better the prognosis. 30 In this sense, the role of pediatricians can be decisive in making children with signs suggestive of ASD undertake a specialist diagnostic course. Nowadays, several ASD screening tests for pediatricians are available, none of which, however, is without setbacks; they represent useful tools but should not be considered the only source of information in order to decide whether to start a diagnostic workup in a center specialized in neurodevelopmental disorders. For this purpose, it is very important to pay attention to all possible warning signs reported by parents as well as to directly observe the behavior of the child. 27 In infants, even before a possible speech delay becomes evident, the most indicative signs of ASD are strictly related to social-communication skills as follows: looking at the faces of others; orienting to name; presence of joint attention (i.e., the ability to share focus with others on 1 object); affect sharing; and imitation. 31 When some of these behaviors are lacking, a specific assessment is mandatory. Further, let us not forget that the core signs of autism are not infrequently preceded by signs of impaired motor development, 32 such as motor delay, mostly slight, 33 hypotonia, 34 walking on tiptoes, and/or clumsiness. 1 Therefore, the presence of an early motor impairment, even if mild, should be included among the first signs that could lead to a timely ASD diagnosis. 32

Several different ASD onset patterns have been reported. The most frequent are the “early-onset” pattern, characterized by social-communication deficits developing in the first year or so, and the “regressive autism”, characterized by an onset of autistic signs in the second year, mostly at 16-20 months, associated with a loss of social-communication skills. Another onset pattern is characterized by mixed features: first delay and later loss of social communication skills. There is also an onset pattern named “developmental plateau”, characterized first by normal social development and/or non-specific abnormalities (involving also feeding or sleep), and later by a lack of new acquisitions on the socio-communicative level. 31

Neuropsychological Hypotheses About Autism Spectrum Disorder

From a neuropsychological point of view, 3 main hypotheses have been developed to explain cognitive dysfunction in individuals with ASD. 35 First, failure of theory of mind refers to the inability to interpret the behaviors of others based on their feelings and beliefs and to identify their intentions and emotions, leading to social communication impairments. 36 , 37 Second, there is the hypothesis of a deficit of executive functions, which are a series of cognitive processes including attention, working memory, inhibitory control, planning, and cognitive flexibility that are crucial for adaptive behavior and social cognition skills. 38 , 39 Third, weak central coherence theory refers to the propension of individuals with ASD to use an information processing style that is excessively detail-oriented, 40 , 41 leading to an impairment of social interactions for which an adequate integration of diverse elements such as voice, mimicry, gestures, and environmental context is necessary. 41 This theory partly overlaps with what was mentioned above regarding the multimodal integration deficit and underlines once again the fact that, although visuospatial skills and attention to detail represent strengths in these subjects, when they have to integrate this type of stimuli with other types of stimuli, they may encounter great difficulty. 35

These 3 theories are not mutually exclusive. Each of them is able to explain a part of the autistic symptomatology, but none is able to give a complete explanation. 35

Treatments for Autism And Longterm Outcome

The development of increasingly advanced cognitive-behavioral educational techniques, of which the best known belong to applied behavior analysis (ABA) therapy, has considerably improved the prognosis of affected individuals. Applied behavior analysis utilizes the principles of psychological learning theory in order to modify the behaviors usually present in subjects with ASD. In the 1970s, Ole Ivar Lovaas developed a method that was based on Burrhus Frederic Skinner’s operant conditioning theory, with the aim of changing behaviors and improving social interactions in children with ASD. During the past 60 years, ABA has changed considerably, evolving into many treatment practices, with the aim of dealing with the problems of individuals with ASD in all functioning domains, such as cognition, social skills, language, daily living skills, and challenging behaviors. 42 Today, only a small minority of these subjects come off the autistic spectrum, but almost all can improve considerably by increasing their level of autonomy. 43 After the diagnosis, psychoeducational and often emotional support are very important for parents. Several other interventions are used extensively around the world for children with ASD, although the evidence for their effectiveness does not match that of ABA. Occupational therapy interventions, in particular those using new technologies such as the computer, have shown positive effects on activities of daily living and social skills. 44 In the contest of occupational therapy, sensory integration interventions, in particular when using the principles proposed by Anna Jean Ayres (e.g., tailoring challenges to assure that they are slightly beyond the current performance level of the child), showed positive effects on participation in daily-life activities and routines. 45 Floortime, a relationship-based therapy, has shown that it can improve communication, emotional functioning, and daily living skills in children with ASD. 46

A pharmacological therapy for the core symptoms of autism does not exist. However, pharmacological therapies are used to treat comorbidities: for example, melatonin or (if not effective) niaprazine for sleep disorders, antiseizure drugs for epilepsy (the choice of drugs depends mainly on the type of epilepsy and possible behavioral undesirable effects), and methylphenidate for ADHD. In addition, drug therapy is used to treat challenging behaviors when cognitive-behavioral interventions have not produced adequate results. In these situations, atypical neuroleptics (e.g., risperidone and aripiprazole) are currently the most commonly often used drugs. Indeed, based on a recent systematic review and meta-analysis of antipsychotic medications in autism, there is some evidence for favorable effects of risperidone and aripiprazole on irritability and agitation in children with ASD. 47 However, we wish to underline that the use of pharmacotherapy should be resorted to only when there is a real need and, if possible, for limited periods of time.

Based on the hypothesis that children with ASD have increased levels of systemic heavy metals interfering with their neurodevelopment and leading to autism, in many of these patients, chelation therapy has been attempted using an agent that binds to the excess heavy metal, causing its excretion. Yet, clinical trials of this therapy in ASD are lacking. Based on literature data, in ASD there is no evidence for the effectiveness of chelation therapy, which is associated with very severe and potentially lethal side effects such as cardiac arrhythmias and hypocalcaemia. 48

Interesting findings are emerging regarding diet therapy. One recent systematic review and meta-analysis suggests that diet therapies (including ketogenic diets, gluten-free diets, and gluten-free and casein-free diets), may have favorable effects even on ASD core symptoms. However, more high-quality clinical trials are needed. 49

During childhood, the most important prognostic factor for long-term outcome seems to be intellectual functioning: the higher the intelligence quotient, the better the long-term evolution. But also, the presence of verbal language (although atypical) within 5-6 years of life appears to be a favorable prognostic factor. 43 Unfortunately, approximately 25%-30% of affected individuals develop very little to no verbal skills; they are called “minimally verbal” and usually show a poor long-term outcome. The severe deficit of communication skills (verbal and nonverbal) is very often the basis of the aforementioned challenging behaviors. Also for this reason, providing early non-speaker individuals with alternative means of communication, such as augmentative and alternative communication, is of paramount importance. 50

Conclusions

For professionals who deal with ASD, it is a frustrating situation to witness the growth in the prevalence of this condition without knowing exactly the reasons and consequently without having the most suitable tools to counter it, despite all the knowledge about the neurobiology of ASD that has accumulated over the last years. Today, however, it seems clear that genetic factors alone are unable to explain this phenomenon that some have called the “autism epidemic.” Therefore, in recent years, growing attention has been paid to the environmental factors that can trigger the mechanisms leading to the development of ASD. For these factors, actions of prevention could be very useful, but they require potentially unpopular political decisions whose possible effectiveness could be evaluated only in the long term. Unfortunately, nowadays we still know too little about environmental factors to undertake fully effective prevention actions.

From the research perspective, perhaps to better understand why a child develops an ASD, it would be interesting to study not only what is possibly missing in him/her (e.g., chromosomal deletion detected by the array CGH) or what malfunctions (e.g., focal paroxysmal abnormalities on the electroencephalogram), but also the existing possible protective factors, for example, in the genetic heritage of typically developing individuals and which would be missing in subjects with ASD. This research approach could provide very useful information in the future, but it would clearly be very complicated to put into practice.

The increasing prevalence of ASD clearly has a very negative impact on the public health service, due to the large human and material resources that must be employed to address the problem on the diagnostic and therapeutic sides. However, it should be clear that what we do for today’s autistic children will inevitably affect tomorrow’s autistic adults. Spending many resources on treatments for individuals with ASD in their developmental age in order to give them as much personal autonomy as possible, for example in terms of communication skills, is an investment for the future as it reduces the risk of challenging behaviors arising in adolescence or adulthood, which in turn involve the prolonged use of large resources.

Funding Statement

This study received no funding.

Peer-review: Externally peer-reviewed.

Author Contributions: Concept, Design, Writing, Literature Search – A.P.; Concept, Supervision, Critical Review – P.V.

Acknowledgment: The authors would like to thank Cecilia Baroncini for help in editing the text.

Declaration of Interests: The authors have no conflict of interest to declare.

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• Published: 28 May 2021

Advances in autism research, 2021: continuing to decipher the secrets of autism

• Julio Licinio   ORCID: orcid.org/0000-0001-6905-5884 1 &
• Ma-Li Wong 1  

Molecular Psychiatry volume  26 ,  pages 1426–1428 ( 2021 ) Cite this article

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• Autism spectrum disorders
• Neuroscience

We are proud to publish this Special Issue focused on autism, a topic that has been exceedingly important for Molecular Psychiatry since our inception. It is not too bold a statement to say that we were a fundamental contributor to bringing autism to the forefront of the national discourse. A Pubmed search reveals 403 articles published in Molecular Psychiatry since our founding in 1996. Our first autism article by Vincent et al., published in July 1996, examined the fragile X syndrome gene (FMR1) for mutations in autistic individuals, using single-stranded conformational polymorphism analysis; those authors identified three new FMR1 polymorphisms and identified specific and significant association findings with autism [ 1 ].

In late 2001–early 2002 we received four exciting papers with findings on the genetics of autism that were published together in our March 2002 issue, with an accompanying editorial [ 2 , 3 , 4 , 5 , 6 ]. We issued then a press release that was picked up by Time magazine and served as the basis for their unprecedented May 6, 2002 cover story on autism, featuring as that iconic magazine’s cover a young boy who was visibly autistic [ 7 ]. That was the first time that a person with autism was the cover of a national magazine. The magazine’s cover displayed in big yellow letters “Inside the world of autism” and it had a subtitle stating “More than one million Americans may have it, and the number of new cases is exploding. What scientists have discovered. What families should know.” The full story, by Nash [ 8 ], was entitled: “The Secrets of Autism,” with the following subtitle: “The number of children diagnosed with autism and Asperger’s in the U.S. is exploding. Why?” Time ’s cover article was so successful that their editors expanded that from a single issue into an entire series on autism over multiple issues. That Time series effectively made autism emerge as a mainstream topic of kitchen table conversations across America. As that effort was triggered by our press release and four articles on autism, it is reasonable to boast that Molecular Psychiatry launched the national conversation on autism.

The four papers highlighted in our March 2002 issue were within the first 20 articles that we published on this topic. Now, 383 papers later, we have a much more substantial body of work that further unravels the secrets of autism, the culmination of which is this autism Special Issue, with 26 truly superb papers on autism [ 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 ]. These extraordinary articles cover essentially all aspects of this disorder, from the training of specialists, to the interface with other disorders, such as polycystic ovarian syndrome and Alzheimer’s disease, and in-depth analyses of genetics, structural and functional imaging, as well as neuroscience, including postmortem brain studies, transcriptome of induced pluripotent stem cell models, assessments of the role of vitamin D, and studies highlighting the contributions of inflammatory mediators to autism.

We have had for over three decades a particular interest on the interface of immune mediators and psychiatric disorders [ 35 ]. It is very rewarding to see the interface of immune mediators and psychiatry evolve from a hypothesis, that we and others explored decades ago, into a broad and established area within psychiatric neuroscience. As we have developed a new model of analysis of the simultaneous contributions of multiple genes and environmental factors to a psychiatric phenotype [ 36 ], were also encouraged to see studies looking at the polygenic risk for autism in the context of childhood trauma, life-time self-harm, and suicidal behavior and ideation [ 30 ], as well in comparison to several other psychiatric disorders [ 32 ].

One paper in this issue, by Frye et al., is highly usual, and particularly intriguing: it investigates the role of the mitochondrion, in the influence of prenatal air pollution exposure on neurodevelopment and behavior in 96 children with autism spectrum disorder [ 22 ]. Second and third trimester average and maximal daily exposure to fine air particulate matter of diameter ≤2.5 µm (PM 2.5 ) was obtained from the Environmental Protection Agency’s Air Quality System. Mediation analysis found that mitochondrial respiration linked to energy production accounted for 25% and 10% of the effect of average prenatal PM 2.5 exposure on neurodevelopment and behavioral symptoms, respectively. Those results suggest that prenatal exposure to PM 2.5 disrupts neurodevelopment and behavior through complex mechanisms, including long-term changes in mitochondrial respiration and that patterns of early development need to be considered when studying the influence of environmental agents on neurodevelopmental outcomes.

We are honored to have initiated the national conversation on autism twenty years ago and we believe that the 403 autism papers published to date in Molecular Psychiatry , including, but not limited to those highlighted in this Special Issue, report major advances in a key area of molecular psychiatry. It is particularly rewarding to see that these articles cover the full spectrum of research translation [ 37 ], from molecules to society.

In future issues, Molecular Psychiatry will continue to publish outstanding advances in autism research.

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Licinio, J., Wong, ML. Advances in autism research, 2021: continuing to decipher the secrets of autism. Mol Psychiatry 26 , 1426–1428 (2021). https://doi.org/10.1038/s41380-021-01168-0

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Collected Research on Autism Spectrum Disorder

• Clinical Psychological Science
• Current Directions in Psychological Science
• Language Development
• Perspectives on Psychological Science
• Psychological Science
• Social Interaction
• Social Psychology

Autism spectrum disorder (ASD) refers to a range of varying conditions that affect individuals’ abilities to communicate and interact with others. Common characteristics of ASD include challenges with speech and nonverbal communication, and repetitive behaviors and interests. According to a 2017 study reported by the U.S. Centers for Disease Control and Prevention, nearly 5.5 million adults in the United States are diagnosed with a subtype of ASD, but each person who is diagnosed experiences it in unique ways—and has their own strengths and challenges in how they learn, think and problem-solve. 

To celebrate 2022’s Autism Acceptance Month and contribute to the continued education about ASD, we have collected some research on ASD published in the APS journals Clinical Psychological Science , Perspectives on Psychological Science , Current Directions in Psychological Science , and Psychological Science between 2017 and 2021. Complete journal articles are available to logged-in APS members. 

Read more about Autism Spectrum Disorder in the APS archive. 

Pupillary Contagion in Autism  

Martyna A. Galazka, Jakob Åsberg Johnels, Nicole R. Zürcher, Loyse Hippolyte, Eric Lemonnier, Eva Billstedt, Christopher Gillberg, Nouchine Hadjikhani (2018)  

In this study, individuals with and without ASD viewed photographs of women’s and men’s sad and happy faces while an eye tracker measured changes in their pupil sizes and fixation durations. Both groups of individuals showed similar changes in pupil size. Interestingly, participants with ASD fixated on the area around the eyes in the photographs for less time than participants without ASD, and longer fixation times corresponded with less pupillary contagion. Thus, even though they spent less time looking at the eyes, participants with ASD still showed pupillary contagion. Taken together, these results support the overarousal hypothesis of ASD, which suggests that individuals with ASD reduce eye fixation as a way to decrease arousal from processing social and affective stimuli. 

Link Between Facial Identity and Expression Abilities Suggestive of Origins of Face Impairments in Autism: Support for the Social-Motivation Hypothesis    

Ipek Oruc, Fakhri Shafai, Grace Iarocci (2018)  

Oruc and colleagues examined the relationship between face and facial-expression identification in ASD by testing adults with and without ASD in tasks that involved identifying faces and expressions. Results indicated that adults with ASD performed more poorly on both tasks than adults without ASD. Moreover, there was a positive relationship between face- and expression-identification abilities for adults with ASD, but not adults without ASD. Oruc and colleagues also assessed social motivation, finding it to be lower for adults with ASD than for those without ASD. Among adults with ASD who had low social-motivation scores, those with the lowest scores had the lowest face- and expression-identification abilities. These results suggest that impairments in both face and expression processing in ASD might derive from a lack of experience with faces, as the social-motivation hypothesis of ASD proposes. 

Gaze Following Is Related to the Broader Autism Phenotype in a Sex-Specific Way: Building the Case for Distinct Male and Female Autism Phenotypes    

Elisabeth M. Whyte and K. Suzanne Scherf (2017)  

Whyte and Scherf investigated whether sex differences might emerge in eye-gaze processing, thought to be a core deficit in ASD. The authors recruited a nonclinical sample of adult men and women who exhibited either high or low levels of autistic-like traits (ALTs) and showed them a series of images depicting a person among multiple objects. After viewing each image, participants indicated what the person was looking at by choosing one of four options (a target object, a plausible nontarget object, or one of two implausible nontarget objects). Men who had high levels of ALTs showed poorer eye-gaze following than men with low ALTs and women with high ALTs. Women’s performance on the eye-gaze task did not vary according to ALTs. The authors suggest that abnormal eye-gaze processing may be part of the broader male autism phenotype but not the female autism phenotype. 

Atypical Visual Motion-Prediction Abilities in Autism Spectrum Disorder    

Woon Ju Park, Kimberly B. Schauder, Oh-Sang Kwon, Loisa Bennetto, Duje Tadin (2021)  

People with ASD appear to show atypical visual prediction of motion trajectories, this research suggests. Children and adolescents with and without ASD performed a computerized task in which they saw a bird whose movement had been occluded and predicted when it arrived at a target location. Participants without ASD developed a central-tendency bias throughout the experiment—an adaptive behavior indicating accumulation of knowledge about the stimulus statistics—whereas participants with ASD did not show this bias. Smooth-pursuit eye movements for the moving bird were also associated with better performance in participants without ASD and with a bias for responding early among participants with ASD. 

The Use of Prior Knowledge for Perceptual Inference Is Preserved in ASD    

Sander Van de Cruys, Steven Vanmarcke, Ines Van de Put, Johan Wagemans (2017)  

Van de Cruys and colleagues presented participants with Mooney images—simplified black-and-white representations of source images that can be perceived differently before and after exposure to the natural source images—and asked participants to guess what each image showed. After participants saw the source images, they tried to identify each Mooney image again. Participants also completed the Autism-Spectrum Quotient (AQ) questionnaire, a measure of autism-like traits. Regardless of their scores on the AQ questionnaire, all participants showed improvements in recognition accuracy for the Mooney images after exposure to the source images. When the researchers compared adolescents with and without ASD, they found no differences in performance improvements. These findings suggest that the fast formation and application of specific priors, and therefore the ability to apply top-down processing, is preserved in ASD. 

An Electrocortical Measure Associated With Metarepresentation Mediates the Relationship Between Autism Symptoms and Theory of Mind    

Erin J. Libsack, Elizabeth Trimber, Kathryn M. Hauschild, Greg Hajcak, James C. McPartland, Matthew D. Lerner (2021)  

Libsack and colleagues’ study suggests that ASD symptom severity and impairments in theory of mind (ToM; ability to make inferences about others’ state of mind) might be associated with distinct brain activity. Participants with and without ASD viewed vignettes and made mental-state inferences about the characters’ behavior while the researchers used electroencephalography to measure their brain activity. Participants with more accurate ToM and less severe ASD symptoms tended to show a late positive complex (LPC) event-related potential. The LPC, thought to indicate cognitive metarepresentation, may help to explain the heterogeneity in ToM performance in individuals with ASD. 

Adaptation to Vocal Expressions and Phonemes Is Intact in Autism Spectrum Disorder    

Patricia E. G. Bestelmeyer, Bethan Williams, Jennifer J. Lawton, Maria-Elena Stefanou, Kami Koldewyn, Christoph Klein, Monica Biscaldi (2018)  

Prior research using visual paradigms has shown that children with ASD exhibit reduced visual aftereffects compared with typically developing children. The authors extended this work, investigating whether the emotional salience of auditory stimuli would affect sensory adaptation in children with and without ASD. Participants listened to a series of stimuli designed to induce auditory aftereffects, categorizing each recording according to its emotional content or phoneme (a single, irreducible sound in speech). Although children with ASD were worse at categorizing emotional expressions than they were at categorizing basic phonemes, auditory aftereffect sizes were similar for children with and without ASD. These findings suggest that individuals with ASD do not show general impairments in sensory-adaptation mechanisms. 

What Do New Findings About Social Interaction in Autistic Adults Mean for Neurodevelopmental Research?    

Rachael Davis and Catherine J. Crompton (2021)  

New findings suggest that social and communication difficulties among autistic adults can be influenced by mismatches in communication styles that also reflect nonautistic difficulties. Thus, deficit-based accounts of autistic social difficulties may be overly simplistic, because they do not account for the bidirectional nature of interactions between individuals with and without autism. Shifting from a deficit-based view to a difference-based view of autistic social difficulties could increase public understanding of autism, bridge the gap between different interaction styles, and provide opportunities for the inclusion of autistic individuals. 

It Takes All Kinds (of Information) to Learn a Language: Investigating the Language Comprehension of Typical Children and Children With Autism    

Letitia R. Naigles (2020)  

The Longitudinal Study of Early Language (LSEL) has been following the speech, understanding, and interactions of typically developing children and children with ASD. Naigles summarizes the findings of the LSEL: Both groups of children show similar syntactic understanding and word-learning strategies, including within-group variability associated with other aspects of individual behavior. In both groups, early linguistic knowledge and social abilities influence later speech and understanding. These findings suggest that language development might have both social and linguistic foundations. 

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Trends and features of autism spectrum disorder research using artificial intelligence techniques: a bibliometric approach

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The prevalence of autism spectrum disorder (ASD) has risen rapidly in recent decades. Owing to its success across disciplines, the use of artificial intelligence (AI) in the screening of ASD has emerged as a prominent solution. We conducted a bibliometric analysis on AI-powered ASD screening research with a unit of 2090 publications retrieved from Scopus database in the period 2010–2021. Our findings show, among other things, that the annual growth rate of publications was 33.05% and scientific production drastically increased 23-fold from 22 in 2010 to 509 in 2021 with nearly two thirds (1307; 62,54%) of the retrieved documents being published between 2019–2021. The USA was the global leader in terms of scientific output with 730 publications followed by China (255), and India (251). Stanford university, the scientific journal NeuroImage, and Dennis P. Wall were the most globally prolific institution, publication source, and author, respectively. Using VOSviewer’s clustering algorithms, keyword and topic analysis identified neuroimaging techniques and genetic research as hot and emerging research trends. Interestingly, three of the top ten prolific authors were women, indicating a significant milestone for gender rebalancing efforts in the AI workforce. The findings will help both experienced and aspiring scientists better understand the structure and current state of knowledge, uncover patterns of collaboration, and identify emerging trends in ASD research using AI.

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I. Z acknowledges support from the ANSO Scholarship for Young Talents. J.T. was supported by The National Natural Science Foundation of China (NSFC 61772362, 61972280) and Shenzhen KQTD Project [KQTD20200820113106007]. W.Y. was partly supported by the Research and Development Project of Guangdong Province under grant no. 2021B0101310002, the Strategic Priority CAS Project XDB38050100, National Science Foundation of China under grant no. 62272449, the Shenzhen Basic Research Fund under grant no KQTD20200820113106007, RCYX2020071411473419, JCYJ20200109114818703, CAS Key Lab under grant no. 2011DP173015, the Youth Innovation Promotion Association (Y2021101), CAS.

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Ibrahim Zamit, Limin Jiang, Wei Yanjie & Jijun Tang

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I.Z.: Conceptualization, Methodology, Data Curation, Investigation, Writing—Original Draft, Writing—Review & Editing, Visualization I.H.M.: Methodology, Writing—Review & Editing L.J.: Writing—Review & Editing J.T.: Supervision, Project administration, Funding acquisition W.Y.: Supervision, Funding acquisition. All authors read and approved the final manuscript.

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Zamit, I., Musa, I.H., Jiang, L. et al. Trends and features of autism spectrum disorder research using artificial intelligence techniques: a bibliometric approach. Curr Psychol 42 , 31317–31332 (2023). https://doi.org/10.1007/s12144-022-03977-0

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Accepted : 30 October 2022

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DOI : https://doi.org/10.1007/s12144-022-03977-0

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