Journal Articles

Autistic meltdowns are involuntary fits of intense frustration, rage, and often physical violence elicited by sensory and cognitive stressors easily tolerated by neurotypicals. While nearly 70% of autistic individuals display the “crisis behaviors” associated with meltdowns, the neural mechanisms that underlie this maladaptive response are not yet well understood. This has thus far hampered progress towards a dedicated therapeutic intervention–beyond traditional medications—that limits their frequency and severity. Here, we aim to initiate an interdisciplinary dialogue on the etiology of meltdowns. In doing so, we frame meltdowns as a consequence of underlying chronic hypervigilance and acute hyperreactivity to objectively benign stressors driven by differences in the insular cortex—a multimodal integration hub that adapts autonomic state and behavior to meet environmental demands. We first discuss meltdowns through the lens of neurophysiology and argue that intra-insular hypoconnectivity engenders vagal withdrawal and sympathetic hyperarousal in autism, driving chronic hypervigilance and reducing the threshold of stressors those with autism can tolerate before experiencing a meltdown. Next, we turn to neuropsychology and present evidence that meltdowns reflect an inability to properly integrate contextual evidence, particularly social cues, when acutely assessing ambiguous signs of danger in the environment—a process termed neuroception. Finally, we build on contemporary predictive coding accounts of autism to argue that meltdowns are ultimately driven by chronic failures of sensory attenuation and coherent deep inference within the interoceptive hierarchy, possibly linked to oxytocin deficiency during infancy. Throughout, we synthesize each perspective to construct a multidisciplinary, insula-based model of meltdowns.

The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (nmax = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism.

Since its inception in 1980, the term PDA has generated much debate, indeed, arguably few subjects have generated such controversy in the neurodevelopmental literature.  However research in the area is moving into more practical arenas, including trying to understand why some children present with problematic demand avoidant behaviour, in order to provide practical support to families.  In this special edition of Child and Adolescent Mental Health, data from two studies are presented which begin to look for underlying factors contributing to an anxious need for control.  Commentaries then follow, highlighting inherent nosological and methodological difficulties in investigating PDA.  In this lively debate, while the controversy continues, some headway is made in terms of understanding why some young people might present with such a rigid and maladaptive response to everyday demands, including an aversion to intolerance of uncertainty leading to controlling behaviour. It will be crucial for both health and education to develop a robust evidence base to understand the driving mechanisms for demand avoidant behaviour, and develop specific strategies for managing what can be very challenging behaviours.

An increasing number of studies are investigating the links between autism and borderline personality disorder.  Studies report overlapping differences and the challenges in differentiating between these two diagnostic labels. In practice, there are many people, especially autistic women, who feel that they were misdiagnosed with borderline personality disorder.  This study aimed to explore the experiences of autistic adults who were previously diagnosed with borderline personality disorder.  This is an interpretive phenomenological study. Data were collected using one-to-one, semi-structured interviews. Interview audio-recordings were transcribed and analysed using an interpretive phenomenological analysis.  Ten people participated.  All recalled autistic differences since childhood that went unnoticed. In most cases, borderline personality disorder was felt to have been a misdiagnosis.  This misdiagnosis carried stigma, introduced diagnostic overshadowing and led to harmful experiences for our participants.  While they did not identify with the diagnosis, they felt powerless to challenge it. In contrast, receiving an autism diagnosis was ‘life changing’.  While this did not solve everything for them, it was deeply validating. It also allowed them to be their true authentic selves, shifting the focus away from ‘treatment’ and changing who they are to suit others, towards acceptance of their differences and neurotype.  This significantly improved their mental health. Lay Abstract Autistic people face many barriers to receiving an autism diagnosis.  Often, they may be misdiagnosed with borderline personality disorder instead.  For our study, we interviewed 10 autistic adults who had previously been diagnosed with borderline personality disorder.  This helped us to better understand their experiences. They explained how borderline personality disorder is quite stigmatised and may suggest that people are to blame for their differences in behaviour.  They found the treatments they had to try for borderline personality disorder to be harmful. For example, these treatments promoted ‘masking’.  Previous research showed that masking can be harmful for autistic people, linking it to risk of suicide.  This diagnosis also led to healthcare professionals neglecting them and discounting their beliefs.  Once they were diagnosed with borderline personality disorder, it was hard to access an autism assessment.  When they did receive their autism diagnoses, this was much more positive.  This diagnosis was validating. It also improved their mental health, as they were no longer expected to mask – their differences were now accepted.  They still felt that autism was stigmatised in society.  However, this was very different to the stigma around borderline personality disorder.  They felt autism stigma was more about their competence as people, whereas borderline personality disorder stigma was about how they were broken and might be harmful to others.  This study is important because it allows their stories to be heard by researchers and healthcare professionals alike.  Adding their voices helps to humanise them, promoting positive change in mental health services. More research is now needed.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and social interaction, associated with the presence of restricted and repetitive patterns of behavior, interests, or activities. Cannabis has been used to alleviate symptoms associated with ASD.

People learn they are autistic at different ages. We wanted to know if telling kids they are autistic earlier helps them feel better about their lives when they grow up.  We are a team of autistic and non-autistic students and professors. Seventy-eight autistic university students did our online survey. They shared how they found out they were autistic and how they felt about being autistic. They also shared how they feel about their lives now. Around the same number of students learned they were autistic from doctors and parents. Students who learned they were autistic when they were younger felt happier about their lives than people who learned they were autistic when they were older. Students who learned they were autistic when they were older felt happier about being autistic when they first found out than people who did not have to wait as long.  Our study shows that it is probably best to tell people they are autistic as soon as possible. The students who did our study did not think it was a good idea to wait until children are adults to tell them they are autistic. They said that parents should tell their children they are autistic in ways that help them understand and feel good about who they are.

Objective: ADHD commonly co-occurs with ASD without ID in young people. It has been difficult to obtain accurate prevalence estimates of ADHD in this population, as a dual-diagnosis was not permitted until DSM-V. We systematically reviewed the literature on the prevalence of ADHD symptoms in young people with ASD without ID. Method: 9,050 articles were identified through six databases. Articles were reviewed against inclusion and exclusion criteria and 23 studies were included. Results: ADHD symptom prevalence varied from 2.6% to 95.5%. We discuss these findings according to the ADHD assessment measure, informant, diagnostic criteria, risk of bias rating and recruitment pool. Conclusion: ADHD symptoms are common in young people with ASD without ID, but there is substantial variance in study reporting. Future studies should recruit participants from community sources, provide information on key sociodemographic sample characteristics and assess ADHD with standardized diagnostic criteria, using both parent/carer and teacher report.

Previous research indicates that menopause can be an extremely difficult transition for some autistic people.  This study asks how autistic people experience menopause and how they can better access services, support and information; autistic Community Research Associates played an important role in each stage of the research.  Online focus groups and interviews were conducted with 24 autistic participants who lived in Canada (n = 13) or the United Kingdom (n = 11) and had experience with the menopausal transition.  Transcripts were coded and analysed by four team members using reflexive thematic analysis.  Four themes and eight subthemes were identified:  (1) Complexity, multiplicity and intensity of symptoms (0 subthemes);  (2) Life experience and adversity converging at midlife (three subthemes);  (3) The importance of knowledge and connection (two subthemes); and (4) Barriers to support and care (three subthemes).  Limitations include a potential sample bias towards difficult experiences of menopause.  The majority of our sample had a late diagnosis or discovery of autism, and their experiences might not generalize to wider autistic populations.  This research may help autistic people prepare for menopause and recognize symptoms earlier. Hearing about the experiences of others may let autistic people who struggle with menopause know they are not alone.  Previous studies report that menopause can be a very difficult transition for some autistic people.  This study focuses on how autistic people experience menopause and what support and information might help them. Autistic Community Research Associates played an important role in the research and co-authored this article.  We held four focus groups and eight interviews online with 24 autistic participants who lived in either Canada (n = 13) or the United Kingdom (n = 11).  We analysed participant conversations using a method called reflexive thematic analysis.  Participants described many intense challenges during menopause.  Four themes and eight subthemes were identified across participant groups:  (1) Complexity, multiplicity and intensity of symptoms (0 subthemes);  (2) Life experience and adversity converging at midlife (three subthemes);  (3) The importance of knowledge and connection (two subthemes); and (4) Barriers to support and care (three subthemes).  The experiences of our participants may not be the same as other autistic people, and the study could have been more inclusive of diverse autistic groups.  However, hearing about the experiences of others may provide reassurance to autistic people who struggle with menopause and let them know they are not alone.

Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequency and distribution of comorbidit conditions in individuals with ASD, and systematically evaluate the possibility that pre- and postnatal exposures (e.g., preterm birth, hypoxia at birth, traumatic brain injury, and fetal alcohol syndrome) associated with ASD may also be linked with distinct comorbidities. We used the SPARK study database, launched by the Simons Foundation Autism Research Initiative (SFARI). Comorbidities considered in the study included neurological, cognitive, psychiatric, and physical conditions. The study sample consisted of 42,569 individuals with ASD and their 11,389 non-ASD siblings (full and half siblings). Majority (74%) of individuals with ASD had at least one comorbidity, and had a greater average number of comorbidities than their non-ASD siblings. Preterm birth and hypoxia at birth were the most common peri-natal exposures in the sample. In logistic regression models adjusted for covariates, these exposures were associated with several distinct comorbidities in ASD cases, including attention and behavior problems, psychiatric and neurological disorders, and growth conditions. A similar pattern of association was also observed in non-ASD siblings. Our findings underscore that individuals with ASD experience a greater burden of comorbidities, which could be partly attributable to the higher rates of perinatal exposures compared to their non-ASD siblings. Study findings, if replicated in other samples, can inform the etiology of comorbidity in ASD.

Objective:  Symptoms of ADHD are expected to be more difficult to treat in patients with a combination of ADHD and autism spectrum disorder (ASD) as opposed to only ADHD.  Little evidence is available on the influence of ASD on the effects of pharmacotherapy in adults with ADHD.  This study addresses this gap.  Method:  60 adults with ADHD and comorbid ASD were selected from an outpatient clinic and compared with 226 adults from the same clinic with only ADHD.  Similar treatment regimens were received.  Results:  Significant decreases in symptoms of ADHD were found in both groups.  A diagnosis of ASD did not affect the reduction in symptoms of ADHD.  No significant group differences in side effects or vital signs were found.  Conclusion:  Results show that medication for ADHD can effectively and safely be prescribed to patients with ADHD and comorbid ASD.  Suggestions for future research are discussed.

Burgeoning narratives of neurodivergence increase representation in media, producing an unprecedented visibility and awareness of what it means to be neurodivergent in a neurotypical world.  In this article I examine the ways in which a neurodivergent subject position can provide liberatory insights into oppressive patriarchal gender structures, while exploring productive tensions of the histories and lineages of neurodivergence marked by inequities, erasure, and epistemic injustice (Catala et al. 2021).  Although self-diagnosis is often accepted among communities, individuals without diagnosis face delegitimization in navigating institutions, accentuating race, class, and gender disparities. How do we honor a lineage of stories of neurodivergent individuals who could not claim this identity, and what does it mean to celebrate neurodiversity and simultaneously hold space and honor the absences marked by intersecting oppressions? Using Maria Lugones's world-traveling as a method, I reflect on these tensions via narratives of my own discovery of neurodivergence and diagnosis, contextualizing it within a larger lineage of neurodivergent family who do not identify as such, as well as my encounters with varying levels of access, privilege, and understanding.  I position my autoethnographic analysis against anecdotes and discursive media of the neurodiversity movement, finding that an autistic subject position complicates both femininity and gender.

Individuals with autism spectrum disorder (ASD) are thought to lack self-awareness and to experience difficulty empathizing with others.  Although these deficits have been demonstrated in previous studies, most of the target stimuli were constructed for typically developing (TD) individuals. We employed judgment tasks capable of indexing self-relevant processing in individuals with and without ASD.  Fourteen Japanese men and 1 Japanese women with high-functioning ASD (17–41 years of age) and 13 Japanese men and 2 TD Japanese women (22–40 years of age), all of whom were matched for age and full and verbal intelligence quotient scores with the ASD participants, were enrolled in this study.  The results demonstrated that the ventromedial prefrontal cortex was significantly activated in individuals with ASD in response to autistic characters and in TD individuals in response to non-autistic characters.  Although the frontal–posterior network between the ventromedial prefrontal cortex and superior temporal gyrus participated in the processing of non-autistic characters in TD individuals, an alternative network was involved when individuals with ASD processed autistic characters.  This suggests an atypical form of empathy in individuals with ASD toward others with ASD.