1. Abrahamson V, Zhang W, Wilson PM, Farr W, Reddy V, Parr J, Peckham A, Male I. Realist evaluation of Autism ServiCe Delivery (RE-ASCeD): which diagnostic pathways work best, for whom and in what context? Findings from a rapid realist review. BMJ open. 2021; 11(12): e051241.

OBJECTIVES: Waiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including ‘grey’ literature) to uncover the current evidence base about autism diagnostic pathways and what works best, for whom and in what circumstances, to deliver high quality and timely diagnosis. DESIGN: We performed a Rapid Realist Review consistent with recognised standards for realist syntheses. We collected 129 grey literature and policy/guidelines and 220 articles from seven databases (January 2011-December 2019). We developed programme theories of how, why and in what contexts an intervention worked, based on cross comparison and synthesis of evidence. The focus was on identifying factors that contributed to a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within specific parameters (Autism diagnostic services in Paediatric and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group, including representatives from local parent forums, national advocacy groups and clinicians, was integral to the process. RESULTS: Based on 45 relevant articles, we identified 7 programme theories that were integral to the process of diagnostic service delivery. Four were related to the clinical pathway: initial recognition of possible autism; referral and triaging; diagnostic model; and providing feedback to parents. Three programme theories were pertinent to all stages of the referral and diagnostic process: working in partnership with families; interagency working; and training, service evaluation and development. CONCLUSIONS: This theory informed review of childhood autism diagnostic pathways identified important aspects that may contribute to efficient, high quality and family-friendly service delivery. The programme theories will be further tested through a national survey of current practice and in-depth longitudinal case studies of exemplar services. TRIAL REGISTRATION NUMBER: NCT04422483.

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2. Brittenham C, Gordon J, Zemon VM, Siper PM. Objective frequency analysis of transient visual evoked potentials in autistic children. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 464-80.

Visual evoked potentials (VEPs) provide a means to examine neural mechanisms in autism with high temporal resolution. Conventional VEP analysis relies on subjective inspection of a few points (peaks and troughs) in the time-domain waveform. The current study applied power spectral analysis and magnitude-squared coherence (MSC) statistics (frequency-domain measures) to VEPs recorded during 1-minute runs and with a recently developed short-duration technique that allow for objective examination of the responses (Zemon & Gordon, European Journal of Neuroscience, 2018, 48, 1765-1788) from nonautistic and autistic children. Results indicate that, for both groups, early time-domain measures (P(60) , N(75) , P(100) ) are highly correlated with middle- and high-frequency (14-28 and 30-48 Hz, respectively) mechanisms, and late measures are highly correlated with a low-frequency (6-12 Hz) mechanism. One frequency-domain measure (power in the middle-frequency band) is capable of predicting the key amplitude measure (N(75) -P(100) ) with high accuracy. MSC and power measures were combined to yield separate measures of signal and noise strength to evaluate alternate hypotheses in autism. Linear mixed-effects modeling demonstrated selective differences in early time-domain and middle-to-high frequency-domain measures in autistic children as compared to nonautistic children given both recording techniques, implicating weaker excitatory input to the cortex. Receiver-operating-characteristic curve analysis showed predictive diagnostic accuracy for middle- and high-frequency bands based on MSC. These findings support the value of frequency analysis measures (power spectral analysis and MSC) in the objective examination of neural differences in autism. LAY SUMMARY: Visual evoked potentials (VEPs) are used to assess neural mechanisms. Typically, VEPs are analyzed by subjective examination of time-series waveforms; but here objective techniques were applied to quantify VEP frequency components to investigate neural differences between autistic and nonautistic children. The objective measures demonstrate group differences in brain function that point to weaker excitatory input to the cortex in autism.

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3. Calleja S, Kingsley J, Amirul Islam FM, McDonald R. Barriers to Accessing Healthcare: Perspectives from Autistic Adults and Carers. Qualitative health research. 2022; 32(2): 267-78.

Autistic adults have higher health needs compared to most, yet they continue to experience barriers to accessing appropriate healthcare. Presently, no qualitative research exists exploring these barriers which impact overall physical and mental health. We conducted a qualitative analysis in Victoria (Australia) of the perceived experiences of healthcare access for autistic adults (n = 9) and primary caregivers of autistic adults (n = 7). Specifically, a three-staged phenomenological approach was applied involving: (i) a communicative checklist, (ii) a health status survey and (iii) face-to-face interviews. Elements such as support, responsibilities and protective factors exhibited by caregivers, may impact healthcare access for autistic adults. Results indicate the need for further research exploring interdependent factors that impact healthcare access by caregivers, so evidence-based interventions can be developed to support caregivers in the future.

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4. Cameron LA, Borland RL, Tonge BJ, Gray KM. Community participation in adults with autism: A systematic review. Journal of applied research in intellectual disabilities : JARID. 2022; 35(2): 421-47.

BACKGROUND: This systematic review aimed to explore how adults with autism participate in the community, the impact of community participation on quality of life and mental health, and factors that support and hinder participation. METHOD: A systematic review was conducted including studies published from inception to 17 January 2021. RESULTS: Sixty-three reports were included, reporting on 58 studies. Solitary activities, organised group activities, community activities, religious groups and online social participation were identified. The relationship between community participation and quality of life was examined. Barriers and facilitators to increased community participation were identified. Most studies had a moderate to high risk of bias. CONCLUSION: Adults with autism participate in a range of independent and community activities. The impact of community participation on quality of life and mental health warrants further exploration. Future studies should find effective ways of supporting adults with autism to participate in the community.

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5. DiCarlo GE, Wallace MT. Modeling dopamine dysfunction in autism spectrum disorder: From invertebrates to vertebrates. Neuroscience and biobehavioral reviews. 2022; 133: 104494.

Autism Spectrum Disorder (ASD) is a highly heterogeneous neurodevelopmental disorder characterized by deficits in social communication and by patterns of restricted interests and/or repetitive behaviors. The Simons Foundation Autism Research Initiative’s Human Gene and CNV Modules now list over 1000 genes implicated in ASD and over 2000 copy number variant loci reported in individuals with ASD. Given this ever-growing list of genetic changes associated with ASD, it has become evident that there is likely not a single genetic cause of this disorder nor a single neurobiological basis of this disorder. Instead, it is likely that many different neurobiological perturbations (which may represent subtypes of ASD) can result in the set of behavioral symptoms that we called ASD. One such of possible subtype of ASD may be associated with dopamine dysfunction. Precise regulation of synaptic dopamine (DA) is required for reward processing and behavioral learning, behaviors which are disrupted in ASD. Here we review evidence for DA dysfunction in ASD and in animal models of ASD. Further, we propose that these studies provide a scaffold for scientists and clinicians to consider subcategorizing the ASD diagnosis based on the genetic changes, neurobiological difference, and behavioral features identified in individuals with ASD.

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6. Efremova A, Lisy J, Hrdlicka M. The relationship between brain abnormalities and autistic psychopathology in pervasive developmental disorders. Journal of applied biomedicine. 2021; 19(2): 91-6.

The aim of the present research has been to determine whether there is a relationship between brain abnormalities found on magnetic resonance imaging (MRI) and autistic psychopathology. A retrospective analysis covering a period between 1998 and 2015 included 489 children with autism (404 boys, 85 girls; average age 8.0 ± 4.2 years) who underwent an MRI of the brain. For clinical diagnosis of autism, the International Classification of Diseases, 10th revision (ICD-10), was used. Autistic psychopathology was evaluated by means of the Autism Diagnostic Interview – Revised. The Spearman nonparametric correlation analysis and chi-square test were used to examine the possible relationships between variables. The group of autistic children did not manifest a statistically significant correlation between the parameters examined on MRI and autistic psychopathology. A correlation between other cysts and repetitive behavior was significant only at trend level (P = 0.054). Gliosis of the brain was significantly more frequent in autistic children with mental retardation than in children without mental retardation (14.1% vs. 7.4%; P = 0.028). Nonmyelinated areas in the brain were significantly more frequent in autistic children with autistic regression than in children without autistic regression (29.9% vs. 15.7%; P = 0.008). Mental retardation was significantly more frequent in autistic children with autistic regression than in children without regression (73.2% vs. 52.5%; P = 0.002). Our research study did not reveal a statistically significant correlation of brain abnormalities on MRI with autistic psychopathology.

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7. Guan X, Zwaigenbaum L, Sonnenberg LK. Building Capacity for Community Pediatric Autism Diagnosis: A Systemic Review of Physician Training Programs. Journal of developmental and behavioral pediatrics : JDBP. 2022; 43(1): 44-54.

OBJECTIVES: Training primary care providers to provide diagnostic assessments for autism spectrum disorder (ASD) decreases wait times and improves diagnostic access. Outcomes related to the quality of these assessments and the impacts on system capacity have not been systematically examined. This systematic review identifies and summarizes published studies that included ASD diagnostic training for primary care providers (PCPs) and aims to guide future training and evaluation methods. METHODS: Systematic searches of electronic databases, reference lists, and journals identified 6 studies that met 3 inclusion criteria: training for PCPs, community setting, and training outcome(s) reported. These studies were critically reviewed to characterize (1) study design, (2) training model, and (3) outcomes. RESULTS: All studies were either pre-post design or nonrandomized trials with a relatively small number of participants. There was considerable heterogeneity among studies regarding the training provided and the program evaluation process. The most evaluated outcomes were access to autism diagnosis and accuracy of diagnosis. CONCLUSION: Training PCPs to make ASD diagnoses can yield high diagnostic agreement with specialty teams’ assessments and reduce diagnostic wait times. Current data are limited by small sample size, poor to fair quality study methodology, and heterogenous study designs and outcome evaluations. Evidence is insufficient to draw conclusions about the overall effects of training PCPs for ASD diagnostic assessments. Since further research is still needed, this review highlights which outcomes are relevant to consider when evaluating the quality of ASD assessments across the continuum of approaches.

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8. McKechanie AG, Lawrie SM, Whalley HC, Stanfield AC. A functional MRI facial emotion-processing study of autism in individuals with special educational needs. Psychiatry research Neuroimaging. 2022; 320: 111426.

This study aimed to investigate the functional imaging associations of autism in individuals with special educational needs and demonstrate the feasibility of such research. The study included 18 individuals (3 female,15 male; mean age 24.3; mean IQ 69.7) with special educational needs (SEN), of whom 9 met criteria for autism. The task examined the Blood-oxygen-level dependant response to fearful and neutral faces. Individuals in the autism group had 2 clusters of significantly reduced activity centred on the left superior frontal gyrus and left angular gyrus compared to those with SEN alone in response to the fearful faces. In the response to neutral faces, individuals in the autism group also had a cluster of significantly greater activity centred on the right precentral gyrus compared to those with SEN alone. We suggest that autistic characteristics in individuals with SEN are associated with changes in fearful facial emotion processing analogous to those previously reported in autistic individuals without SEN, and who are of average or above average cognitive ability. The finding of enhanced response to neutral facial stimuli needs further investigation, although we speculate this may relate to reports of the experience of ‘hyper-mentalisation’ in social situations as reported by some autistic individuals.

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9. Ménard T. Correspondence on « Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample » by Movaghar et al. Genetics in medicine : official journal of the American College of Medical Genetics. 2022; 24(3): 749-51.

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10. Scheeren AM, Howlin P, Bartels M, Krabbendam L, Begeer S. The importance of home: Satisfaction with accommodation, neighborhood, and life in adults with autism. Autism research : official journal of the International Society for Autism Research. 2022; 15(3): 519-30.

Although good quality housing and a socially cohesive neighborhood are associated with a higher well-being in the general population, housing is a rarely studied topic in autism research. In the present study, we describe the housing situation of a large sample of adults with autism and mostly (above) average intellectual abilities (n = 1429; 17 to 84 years), and examine predictors of independent living, accommodation satisfaction, neighborhood satisfaction, and satisfaction with life based on an online survey. The outcomes of independently living adults were compared with those from a Dutch community sample (n = 929). Nearly 80% of the autistic adults lived independently. Older participants, women, and those with higher self-reported IQ’s were more likely to live independently. Autistic adults living independently were equally satisfied with their accommodation and neighborhood as the comparison group, but were less satisfied with their life in general. In both groups, higher satisfaction with accommodation and neighborhood was associated with higher life satisfaction. We advocate further research to better understand and anticipate the housing needs of the growing group of adults with autism. LAY SUMMARY: The living situation of autistic adults has rarely been studied. We found that 79% of autistic adults with mostly (above) average intellectual abilities lived independently. Women, older adults, and those with higher IQ’s were more likely to live independently. They were equally pleased with their house and neighborhood as adults from a Dutch community sample, but autistic adults were less satisfied with their life in general.

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11. Vaquerizo-Serrano J, Salazar De Pablo G, Singh J, Santosh P. Catatonia in autism spectrum disorders: A systematic review and meta-analysis. European psychiatry : the journal of the Association of European Psychiatrists. 2021; 65(1): e4.

BACKGROUND: Catatonic features can appear in autism spectrum disorders (ASDs). There can be overlap in symptoms across catatonia and ASD. The overall aim of this review is to provide evidence for the presence of catatonic features in subjects with ASD. METHODS: A systematic literature search using the Web of Science database from inception to July 10, 2021 was conducted following PRISMA, MOOSE guidelines and the PROSPERO protocol. (CRD42021248615). Twelve studies with information about catatonia and ASD were reviewed. Data from a subset was used to conduct meta-analyses of the presence of catatonia in ASD. RESULTS: The systematic review included 12 studies, seven of which were used for the meta-analysis, comprising 969 individuals. The mean age was 21.25 (7.5) years. Two studies (16.6%) included only children and adolescents. A total of 70-100% were males. Our meta-analysis showed that 10.4% (5.8-18.0 95%CI) of individuals with ASD have catatonia. Motor disturbances were common in ASD subjects with catatonia. No differences were found in comorbidity. Several treatments have been used in ASD with catatonic features, including benzodiazepines, antipsychotics, and electroconvulsive therapy (ECT). The findings of the systematic review showed that ECT might help manage catatonic symptoms. CONCLUSIONS: Different features of catatonia can exist in individuals with ASD and core symptoms of catatonia are reported in ASD. Longitudinal and longer-term studies are required to understand the relationship between catatonia and ASD, and the response of catatonic symptoms to treatment.

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12. Werneck-Rohrer SG, Lindorfer TM, Waleew C, Philipp J, Prillinger K, Konicar L. Effects of an intensive slow cortical potentials neurofeedback training in female and male adolescents with autism spectrum disorder : Are there sex differences?. Wiener klinische Wochenschrift. 2022; 134(Suppl 1): 60-8.

BACKGROUND: This study aims to compare the effects of neurofeedback training on male and female adolescents with autism spectrum disorder (ASD). Furthermore, it examines sex differences regarding improvements in co-occurring psychopathological symptoms, cognitive flexibility and emotion recognition abilities. The study might provide first hints whether there is an influence of sex on treatment outcomes. METHODS: Six female and six male adolescents with ASD were matched according to age, IQ and symptom severity. All participants received 24 sessions of electroencephalography-based neurofeedback training. Before and after the intervention, psychological data for measuring co-occurring psychopathological symptoms as well as behavioral data for measuring cognitive flexibility and emotion recognition abilities were recorded. RESULTS: Caregivers rated statistically significant higher psychopathological problems in female than in male adolescents with ASD at baseline. Apart from that, no statistically significant sex-related differences were revealed in this sample; however, male adolescents tended to report greater improvements of externalizing, internalizing and total symptoms, whereas females experienced smaller improvements of externalizing and total problems, but no improvements of internalizing problems. Regarding caregivers’ assessments, more improvement of total problems was reported for females. For males, only improvements of internalizing and total problems were described. CONCLUSION: This study reveals preliminary results that sex-related differences might play a role when evaluating treatment outcomes after neurofeedback training regarding comorbid psychopathological symptoms. Adolescents’ self-report and parental assessments, especially concerning psychopathological symptoms, should be combined and considered in future studies to help prevent sex bias in adolescents with ASD.

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