The 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of volumetric brain abnormalities. The syndrome is also associated with an increased risk for neuropsychiatric disorders including schizophrenia and autism spectrum disorder. An earlier meta-analysis showed reduced grey and white matter volumes in individuals with 22q11.2DS. Since this analysis was conducted, the number of studies has increased markedly, permitting more precise estimates of effects and more regions to be examined. Although 22q11.2DS is clinically heterogeneous, it is not known to what extent this heterogeneity is mirrored in neuroanatomy. The aim of this study was thus to investigate differences in mean brain volume and structural variability within regions, between 22q11.2DS and typically developing controls. We examined studies that reported measures of brain volume using MRI in PubMed, Web of Science, Scopus and PsycINFO from inception to 1 May 2019. Data were extracted from studies in order to calculate effect sizes representing case–control difference in mean volume, and in the variability of volume (as measured using the log variability ratio (lnVR) and coefficient of variation ratio (CVR)). We found significant overall decreases in mean volume in 22q11.2DS compared with control for: total brain (g = −0.96;p < 0.001); total grey matter (g = −0.81,p < 0.001); and total white matter (g = −0.81;p < 0.001). There was also a significant overall reduction of mean volume in 22q11.2DS subjects compared with controls in frontal lobe (g = −0.47;p < 0.001), temporal lobe (g = −0.84;p < 0.001), parietal lobe (g = −0.73;p = 0.053), cerebellum (g = −1.25;p < 0.001) and hippocampus (g = −0.90;p < 0.001). Significantly increased variability in 22q11.2DS individuals compared with controls was found only for the hippocampus (VR, 1.14;p = 0.036; CVR, 1.30;p < 0.001), and lateral ventricles (VR, 1.56;p = 0.004). The results support the notion that structural abnormalities in 22q11.2DS and schizophrenia are convergent, and also to some degree with findings in autism spectrum disorder. Finally, the increased variability seen in the hippocampus in 22q11.2DS may underlie some of the heterogeneity observed in the neuropsychiatric phenotype.

The behavioural and cognitive difficulties of some adults with autism spectrum disorder (ASD) may increase their risk of contact with the criminal justice system (CJS) as a potential suspect. There has been limited investigation of ASD and offending and available evidence is mixed. A retrospective review was completed of medical records of 1570 adults (17–75 years old) who were referred for an ASD assessment over a 17-year period (April 2003 to February 2020). Of the adults diagnosed with ASD, 23% had previous contact with the CJS. Being male or diagnosed with co-occurring attention-deficit hyperactivity disorder (ADHD) and/or psychotic disorder were risk factors for CJS contact. However, the rates of contact with the CJS or for specific offences in the ASD group were never higher than adults referred to our service but not diagnosed with ASD. We did not include a general population comparison group, therefore cannot say how rates of CJS contact in ASD compare with the general population. Further health services research for adults with ASD is warranted, as modifying the treatable risk factors (i.e. ADHD) could reduce contact with the CJS. In addition, joint working between CJS and mental health services could reduce the risk of adults with ASD having CJS contact. Lay There has been growing interest in offending and contact with the criminal justice system (CJS) by people with autism spectrum disorder (ASD). However, it is not clear whether people with ASD offend more than those without ASD. Studies have started to look at whether there are particular offences people with ASD are more likely to commit and whether there are any factors that can affect whether someone comes into contact with the CJS as a potential suspect. This study looked at the patients who attended an ASD diagnostic service over a 17-year period to see the rate of contact with the CJS of those who were diagnosed with ASD and whether there were any particular factors that might increase the risk of CJS contact. Nearly a quarter of the ASD group had some contact with the CJS as a potential suspect. Factors that seemed to increase whether someone with ASD was more likely to have contact with the CJS were being male, being diagnosed with ADHD, and being diagnosed with psychosis. This study is one of the largest studies to investigate the rate of CJS contact as a potential suspect in a sample of adults with ASD in an attempt to give a clearer picture of what might influence someone with ASD to engage in offending behaviour in order to try to see what mental health services can offer to reduce the likelihood of someone with ASD coming into contact with the CJS, for example, treatment for another condition or support.

22q11.2 Deletion Syndrome (22q11.2DS) is a genetic condition associated with a high prevalence of neuropsychiatric conditions that include autism spectrum disorder (ASD). While evidence suggests that clinical phenotypes represent distinct neurodevelopmental outcomes, it remains unknown whether this translates to the level of neurobiology. To fractionate the 22q11.2DS phenotype on the level of neuroanatomy, we examined differences in vertex-wise estimates of cortical volume, surface area, and cortical thickness between 1) individuals with 22q11.2DS (n = 62) and neurotypical controls (n = 57) and 2) 22q11.2DS individuals with ASD symptomatology (n = 30) and those without (n = 25). We firstly observed significant differences in surface anatomy between 22q11.2DS individuals and controls for all 3 neuroanatomical features, predominantly in parietotemporal regions, cingulate and dorsolateral prefrontal cortices. We also established that 22q11.2DS individuals with ASD symptomatology were neuroanatomically distinct from 22q11.2DS individuals without ASD symptoms, particularly in brain regions that have previously been linked to ASD (e.g., dorsolateral prefrontal cortices and the entorhinal cortex). Our findings indicate that different clinical 22q11.2DS phenotypes, including those with ASD symptomatology, may represent different neurobiological subgroups. The spatially distributed patterns of neuroanatomical differences associated with ASD symptomatology in 22q11.2DS may thus provide useful information for patient stratification and the prediction of clinical outcomes.

Background: Restrictions on in-person assessments during the COVID-19 pandemic were a challenge for an adult autism diagnostic service receiving over 600 referrals annually. The service sought to adapt the Autism Diagnostic Observation Schedule (ADOS-2) for online administration. Aims: To investigate whether an online adaptation of the ADOS-2 performed comparably to the in-person ADOS-2. To obtain qualitative feedback from patients and clinicians regarding experiences of the online alternative. Method: Online ADOS-2 assessments were completed for 163 referred individuals. A matched-comparison group comprised 198 individuals seen for an in-person ADOS-2 assessment prior to COVID-19 restrictions. A two-way analysis of variance (ANOVA) was run to explore any effect of assessment type (online or in-person ADOS-2) and gender on total ADOS score. Qualitative feedback was collected from 46 patients and 8 clinicians involved in diagnostic decision-making after the online ADOS-2 assessment. Results: A two-way ANOVA found no significant effect of assessment type or gender and no assessment type × gender interaction effect on total ADOS score. Qualitative feedback suggested that only 27% of patients would have preferred an in-person assessment. Nearly all clinicians reported gains from offering an online alternative. Conclusions: This is the first study to examine an online adaptation of ADOS-2 within an adult autism diagnostic service. It performed comparably to the in-person ADOS-2, making it a viable alternative when in-person assessments are not possible. As this clinic group has high rates of comorbid mental health difficulties, we encourage further work to determine whether online assessment approaches generalise to other services to increase options for patients and efficiencies for service delivery.

Background: A crucial step to understanding the mechanistic underpinnings of autism spectrum disorder (ASD), is to examine if the biological underpinnings of ASD in genetic high-risk conditions, like 22q11.2 deletion syndrome (22q11.2DS), are similar to those in idiopathic illness. This study aimed to examine if ASD symptomatology in 22q11.2DS is underpinned by the same—or distinct—neural systems that mediate these symptoms in non-deletion carriers. Methods: We examined vertex-wise estimates of cortical volume (CV), surface area (SA), and cortical thickness across 131 individuals between 6 and 25 years of age including (1) 50 individuals with 22q11.2DS, out of which n = 25 had a diagnosis of ASD, (2) 40 non-carriers of the microdeletion with a diagnosis of ASD (i.e., idiopathic ASD), and (3) 41 typically developing (TD) controls. We employed a 2-by-2 factorial design to identify neuroanatomical variability associated with the main effects of 22q11.2DS and ASD, as well as their interaction. Further, using canonical correlation analysis (CCA), we compared neuroanatomical variability associated with the complex (i.e., multivariate) clinical phenotype of ASD between 22q11.2 deletion carriers and non-carriers. Results: The set of brain regions associated with the main effect of 22q11.2DS was distinct from the neuroanatomical underpinnings of the main effect of ASD. Moreover, significant 22q11.2DS-by-ASD interactions were observed for CV and SA in the dorsolateral prefrontal cortex, precentral gyrus, and posterior cingulate cortex, suggesting that the neuroanatomy of ASD is significantly modulated by 22q11.2DS (p < 0.01). We further established that the multivariate patterns of neuroanatomical variability associated with differences in symptom profiles significantly differed between 22q11.2 deletion carriers and non-carriers. Limitations: We employed a multicenter design to overcome single-site recruitment limitations; however, FreeSurfer-derived measures of surface anatomy have been shown to be highly reliable across scanner platforms and field strengths. Further, we controlled for gender to address the differing distribution between idiopathic ASD individuals and the other groups. Nonetheless, the gender distribution in our sample reflects that of the respective populations, adding to the generalizability of our results. Last, we included individuals with a relatively wide age range (i.e., 6–25 years). Conclusions: Our findings indicate that neuroanatomical correlates of ASD symptomatology in carriers of the 22q11.2 microdeletion diverge from those in idiopathic ASD.

Mental health difficulties commonly co-occur with autism, especially in autistic people accessing clinic services, impacting substantially on quality-of-life. Alexithymia (difficulty describing/identifying feelings) and sensory processing differences are prevalent traits in autism that have been associated with depression/anxiety in autistic community samples. However, it is important to better understand interrelationships between these traits in clinical populations to improve identification of service-user needs. In this study, 190 autistic adults (65.3% male), seen in a tertiary autism clinic, completed self-report measures of alexithymia (20-item Toronto Alexithymia Scale), sensory processing differences (Adolescent/Adult Sensory Profile) and depression/anxiety (Hospital Anxiety and Depression Scale). Multiple linear regression models and mediation analyses were used to examine associations between alexithymia, sensory processing differences, and depression/anxiety severity. Across the sample, 66.3% of individuals (N = 126) were classified as alexithymic (score ≥ 61). Total alexithymia and difficulty describing/identifying feelings were significantly associated with depression severity (β = 0.30–0.38, highest p < 0.002), and difficulty identifying feelings was significantly associated with anxiety severity (β = 0.36, p < 0.001). Sensory processing differences were also significantly associated with depression severity (β = 0.29, p = 0.002) and anxiety severity across all models (β = 0.34–0.48, highest p < 0.001) Finally, difficulty describing/identifying feelings partially mediated the relationships between sensory processing differences and both depression/anxiety severity. Overall, these results highlight that interventions adapted for and targeting emotional awareness and sensory-related uncertainty may improve mental health outcomes in autistic service-users.