1. Downs J, Pichard DC, Kaufmann WE, Horrigan JP, Raspa M, Townend G, Marsh ED, Leonard H, Motil K, Dietz AC, Garg N, Ananth A, Byiers B, Peters S, Beatty C, Symons F, Jacobs A, Youakim J, Suter B, Santosh P, Neul JL, Benke TA. International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA. Trials. 2024; 25(1): 845.

INTRODUCTION: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials. METHODS: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted. The clinical outcome assessments measured clinical severity, functional abilities, comorbidities and quality of life, and electrophysiological biomarkers. An international and multidisciplinary panel of 29 experts with clinical, research, psychometric, biostatistical, industry and lived experience was identified through International Rett Syndrome Foundation networks, to discuss validation of the clinical outcome assessments, gaps and next steps, during a workshop and in a follow-up questionnaire. The identified gaps and limitations were coded using inductive content analysis. RESULTS: Variable validation profiles across 26 clinical outcome assessments of clinical severity, functional abilities, and comorbidities were discussed. Reliability, validity, and responsiveness profiles were mostly incomplete; there were limited content validation data, particularly parent-informed relevance, comprehensiveness and comprehensibility of items; and no data on meaningful change or cross-cultural validity. The panel identified needs for standardised administration protocols and systematic validation programmes. CONCLUSION: A pipeline of collaborative clinical outcome assessment development and validation research in Rett syndrome can now be designed, aiming to have fit-for-purpose measures that can evaluate meaningful change, to serve future clinical trials and clinical practice.

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2. Grant A, Griffiths C, Williams K, Brown AE. « I felt belittled and ridiculed for being in pain »: An online survey of Autistic people’s experience of care for pregnancy loss (perinatal loss) in the United Kingdom(✰). Midwifery. 2024; 141: 104266.

BACKGROUND: Around 3 % of people are Autistic; women may be under-diagnosed. Autistic people report lack of staff understanding, stigma and environmental barriers to using midwifery services. It is not known if these issues are present in perinatal loss services. AIM: To understand Autistic people’s experiences of care for perinatal loss. METHODS: An online survey for Autistic adults in the United Kingdom who had been pregnant, using closed and open questions. Data were analysed descriptively, using Kruskal-Wallis tests and thematically. RESULTS: The majority of losses appeared to be early in pregnancy. Among 67 participants, over half (58.2 %, n = 39) always sought healthcare during a perinatal loss, but 28.4 % (n = 19) never accessed care. Of those who received healthcare (n = 48; 71.6 %), over half (n = 27; 56.3 %) did not know they were Autistic at the time, and just one person told health professionals that they were Autistic. Four participants identified instances where staff were supportive or kind, but the majority of experiences were negative, with reported issues focused on communication, the way support was provided, inadequate pain relief and the hospital environment. We generated one overarching theme: « trauma ». CONCLUSION: Autistic people from the UK identified significant Disability-related access issues with perinatal loss care in addition to issues reported by a general population. UK Perinatal loss services need urgent investment to be able to provide person-centred care to all. Staff supporting perinatal loss should receive neurodiversity-affirming Autism training and be aware that many Autistic people experiencing perinatal loss may not have or share a diagnosis.

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3. Gudjonsdottir FJ, Halldorsson F, Ragnarsdottir B, Njardvik U, Hannesdottir DK. Peer Problems and Prosocial Behavior Among Icelandic Children and Adolescents with ADHD and/or Autism: Gender and Age Differences. J Autism Dev Disord. 2024.

Children with neurodevelopmental disorders tend to have more social difficulties than typically developing children. The aim of the current study was to examine parent and teacher-reported effects of age and gender on social functioning in a large clinical sample of children and adolescents with ADHD, autism, or co-occurring ADHD and autism using a cross-sectional study design. This nationwide clinical sample included 2132 Icelandic children and adolescents (35% girls, 65% boys) aged 5-18 years referred for a neurodevelopmental diagnostic assessment (ADHD and/or autism) in Iceland. Social functioning was measured using the Prosocial behavior and Peer problem subscales on the Strengths and Difficulties Questionnaire (SDQ) completed by parents and teachers. Results revealed that autistic youth and youth with co-occurring ADHD and autism experienced more peer problems and showed less prosocial behavior than youth with ADHD only. According to parents and teachers, girls were found to experience more social difficulties compared to boys. Interaction for age and gender, although only significant for teacher reports, indicated that younger girls with neurodevelopmental disorders experience more peer problems and show less prosocial behavior than older girls. In contrast, boys with neurodevelopmental disorders experience similar issues at all ages. The results suggest different patterns of social difficulties for boys and girls with neurodevelopmental disorders. Future research should examine different developmental pathways of social challenges for boys and girls. Implications for developing and providing clinical interventions appropriate developmental stages are discussed.

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4. Kim H, Reinartz JM, Fabrizio J. Racial Disproportionality in Autism Over 20 Years: What It Means for Special Education Disability Classifications. J Autism Dev Disord. 2024.

PURPOSE: This study examines racial and ethnic disparities in autism prevalence using data from three National Longitudinal Transition Studies (NLTS) spanning two decades. This inquiry intends to explore: (1) changes in the educational labels assigned to students with a medical diagnosis of autism over time and (2) the disparities in these changes across different racial and ethnic groups. METHODS: A secondary data analysis of the NLTS was conducted using the SPSS Complex Samples module. We focused on percentage distribution over time utilizing longitudinal data from the NLTS surveys. RESULTS: The results reveal that students diagnosed with autism are often classified under various other special education categories. There are significant disparities observed in these autism categorizations, with variations in autism prevalence across different racial and ethnic groups. These disparities notably intersect with other special education categories including other health impairments, intellectual disabilities, speech and language impairment, and emotional disability. CONCLUSION: The study suggests that racial disproportionality in the special education autism category could stem from the mechanisms of special education disability designation, which may lead to an inaccurate representation of true autism prevalence.

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5. Kouroupa A, Irvine K, Mengoni SE, Sharma S. The Knowledge and Preferences of Parents/Carers of Autistic Children and Young People about Technology Devices. J Autism Dev Disord. 2024.

This study explored parents’/carers’ knowledge, interest, and preferences towards technology devices as support mediums for autistic children, the reasoning behind any choice and the factors associated with the most preferred technology device. Technology devices were conceptualised as smartphones, iPods, tablets, virtual reality, robots, and ‘other’ for participants to list their own further interpretations of technology devices. Survey data were collected from 267 parents/carers of autistic children aged 2-18 years internationally between May to October 2020. Parents/carers of autistic children and young people were aware of, interested in and mostly preferred the use of tablets because of their convenience and ease of use. They least preferred virtual reality followed by robots due to both being overwhelming, cold, inconvenient to transport and expensive. Robots, in particular, were unknown to respondents. The data suggested that some technology devices as a support medium are not widely known to families of autistic children and young people in support programmes. Technology devices need to be financially approachable and achieve a high standard of design to engage users. Future research should focus on gathering evidence from the autistic community about their preferences and views of technology devices as a medium in autism support programmes.

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6. Lee R, Clough S. Autism spectrum condition: an update for dental practitioners – Part 2. Br Dent J. 2024; 237(12): 917-23.

The second part of this series guides dental care professionals in addressing the specific needs of individuals with autism. The paper explores risk factors, including trauma and oral disease, and offers an overview of strategies for prevention and management, with an appreciation that children and adult services use different resources and approaches to care may vary. We describe a tailored approach to accommodate sensory sensitivities and communication difficulties, and the importance of capacity assessment and best interest considerations. Practical recommendations for managing challenging behaviours are highlighted, along with a discussion on pharmacological support and professional development. By updating dental practitioners on methods to adapt care and prioritise patient wellbeing, dentists can ensure equitable access to quality dental care for individuals with autism.

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7. Manoosi M, Rezaei B, Jenabi E, Soltanian AR, Rezaei M. The Persian Version of the Emotion Regulation and Social Skills Questionnaire: Psychometric Properties for Young People with Autism Spectrum Disorders. J Autism Dev Disord. 2024.

PURPOSE: The aim of the current study was to examine the psychometric properties of the Emotion Regulation and Social Skills Questionnaire (ERSSQ) among young Farsi-speaking individuals with Autism Spectrum Disorder (ASD) in Iran. METHODS: This cross-sectional study analyzed data from 108 children and teenagers (aged 7 to 14 years; mean age = 10.55 years, 91% male) with ASD, along with an equal number of neurotypical children, their families, and teachers. The assessment of the ERSSQ’s psychometric properties included evaluations of reliability, content validity, and face validity. Cronbach’s alpha coefficient was used to estimate the reliability of the ERSSQ-P and ERSSQ-T which were completed respectively by parents and teachers of children with autism spectrum disorders. RESULTS: The results indicated that the Persian versions of the ERSSQ-P and ERSSQ-T questionnaires exhibited adequate face and content validity (CVI = 0.92 and 0.88, respectively). Additionally, both ERSSQ-P and ERSSQ-T demonstrated acceptable internal consistency, with Cronbach’s alpha values of 0.95 and 0.70, respectively. DISCUSSION: This study confirms the effectiveness and validity of the ERSSQ-P and ERSSQ-T, which can be utilized by specialists in the field of autism for clinical and research applications. These instruments offer a straightforward and cost-effective means of assessing emotion regulation and social skills among Farsi-speaking children and adolescents with ASD.

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8. Mendes M, Chen DZ, Engchuan W, Leal TP, Thiruvahindrapuram B, Trost B, Howe JL, Pellecchia G, Nalpathamkalam T, Alexandrova R, Salazar NB, McKee EA, Rivera-Alfaro N, Lai MC, Bandres-Ciga S, Roshandel D, Bradley CA, Anagnostou E, Sun L, Scherer SW. Chromosome X-wide common variant association study in autism spectrum disorder. Am J Hum Genet. 2024.

Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD. The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest symptoms similar to those in males, yet the mechanisms remain unclear. Despite technological advances in genomics, the complexity of the biological nature of sex chromosomes leaves them underrepresented in genome-wide studies. Here, we conducted an X-chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Collection (SSC), and Simons Powering Autism Research (SPARK), alongside 8,981 population controls (43% males). We analyzed 418,652 X chromosome variants, identifying 59 associated with ASD (p values 7.9 × 10(-6) to 1.51 × 10(-5)), surpassing Bonferroni-corrected thresholds. Key findings include significant regions on Xp22.2 (lead SNP rs12687599, p = 3.57 × 10(-7)) harboring ASB9/ASB11 and another encompassing DDX53 and the PTCHD1-AS long non-coding RNA (lead SNP rs5926125, p = 9.47 × 10(-6)). When mapping genes within 10 kb of the 59 most significantly associated SNPs, 91 genes were found, 17 of which yielded association with ASD (GRPR, AP1S2, DDX53, HDAC8, PCDH19, PTCHD1, PCDH11X, PTCHD1-AS, DMD, SYAP1, CNKSR2, GLRA2, OFD1, CDKL5, GPRASP2, NXF5, and SH3KBP1). FGF13 emerged as an X-linked ASD candidate gene, highlighted by sex-specific differences in minor allele frequencies. These results reveal significant insights into X chromosome biology in ASD, confirming and nominating genes and pathways for further investigation.

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9. Moerkerke M, Daniels N, Van der Donck S, Tang T, Prinsen J, Yargholi E, Steyaert J, Alaerts K, Boets B. Impact of chronic intranasal oxytocin administration on face expression processing in autistic children: a randomized controlled trial using fMRI. Mol Autism. 2024; 15(1): 53.

BACKGROUND: Difficulties with (non-verbal) social communication, including facial expression processing, constitute a hallmark of autism. Intranasal administration of oxytocin has been considered a potential therapeutic option for improving social difficulties in autism, either by enhancing the salience of social cues or by reducing the social stress and anxiety experienced in social encounters. METHODS: We recorded fMRI brain activity while presenting neutral, fearful and scrambled faces, to compare the neural face processing signature of autistic children (n = 58) with that of matched non-autistic controls (n = 38). Next, in the autistic children group, we implemented this fMRI face processing task in a double-blind, placebo-controlled, multiple-dose oxytocin clinical trial, to evaluate the impact of four-week repeated oxytocin administration (24 IU daily dose) on brain activity in face processing regions. RESULTS: No significant diagnostic-group differences were identified between autistic versus non-autistic children with regard to neural face processing. Furthermore, no significant treatment effects were found in the oxytocin clinical trial. However, exploratory analyses (uncorrected for multiple comparisons) demonstrated decreases in brain activity in the left superior temporal sulcus (STS) and inferior frontal region in the oxytocin compared to the placebo group, and change-from-baseline analyses in the oxytocin group revealed significantly reduced neural activity in the core face-processing network (STS, inferior occipital, and posterior fusiform), as well as in amygdala and inferior frontal region. CONCLUSION: These findings suggest an attenuating effect of multiple-dose oxytocin administration on neural face processing, potentially supporting the anxiolytic account of oxytocin.

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10. Nimbley E, Maloney E, Gillespie-Smith K, Sharpe H, Buchan K, Kettley S, Bragg J, Shepherd A, Choat B, Long J, Whateley I, Booth O, Baker JA, Renton N, Nuttal E, Darling H, Fidgin L, Campbell L, Suratwala T, Temple C, MacDonald K, Carden S, Lazich B, Kerr-Gaffney J, Sader M, Waiter G, Tchanturia K, Duffy F. Conducting ethical, co-produced research with autistic individuals with an eating disorder: best practice guidelines. Eat Disord. 2024: 1-11.

There is a notable overlap between autism and eating disorders (EDs), and autistic individuals may experience poorer ED treatment outcomes than non-autistic peers. To make meaningful change in this field, it is imperative that we actively engage in co-production of research, however there are currently no guidelines to support co-production with autistic people with eating disorders. This paper reports on best practice guidelines that were co-produced across a series of workshops bringing together autistic people with EDs, researchers, clinicians, third-sector organisations, and parents/carers. The guidelines are intended to be used as a foundation for future co-produced autism and ED research. By creating a trusted, ethical co-production relationship, we hope to generate more clinically meaningful and translatable research. There is increasing awareness of an overlap between autism and eating disorders and concerns around the effectiveness of eating disorder treatment for this populationThere is a lack of research with autistic individuals with eating disorders and a pressing need to prioritise meaningful co-produced researchClinical practice should be informed by autism-affirming eating disorder research. eng.

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11. Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV, Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. Am J Hum Genet. 2024.

Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1 Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS. While the relationship between PTCHD1/PTCHD1-AS and ASD is being studied, the role of DDX53 has not been comprehensively examined, in part because there is no apparent functional murine ortholog. Through clinical testing, here, we identified 8 males and 2 females with ASD from 8 unrelated families carrying rare, predicted damaging or loss-of-function variants in DDX53. Additionally, we identified a family consisting of a male proband and his affected mother with high-functioning autism, both harboring a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS. Then, we examined databases, including the Autism Speaks MSSNG and Simons Foundation Autism Research Initiative, as well as population controls. We identified 26 additional individuals with ASD harboring 19 mostly maternally inherited, rare, damaging DDX53 variations, including two variants detected in families from the original clinical analysis. Our findings in humans support a direct link between DDX53 and ASD, which will be important in clinical genetic testing. These same autism-related findings, coupled with the observation that a functional orthologous gene is not found in mice, may also influence the design and interpretation of murine modeling of ASD.

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12. Shahrokhi H, Malek A, Norouzi S, Amiri S, Noorazar SG, Heidarabadi S, Bahari Gharehgoz A, Dastgiri S, Zali M, Gholipour K, Barzegar M, Shahrokhi R, Broumand S, Iezadi S. Design, methodology, and early findings of an autism registry program: ABBILAR project. Autism. 2024: 13623613241305723.

The autism spectrum disorder (ASD) registry program presents a unique opportunity to facilitate advanced research in various aspects of ASD, particularly in low-resource countries like Iran. Given the international significance of autism research, registry programs play a critical role in data sharing. ASD registry programs have been effectively established in high-income countries over a few decades; however, there are limited examples from low- and middle-income countries. This study presents a firsthand description of the design and primary findings of a 9-year established ASD registry program from the northwest of Iran. It elucidates the program’s feasibility for other low-income settings, providing valuable insights for researchers and policymakers.

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13. Sloper E, Hunt M, Clarke AJ. Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives. Orphanet J Rare Dis. 2024; 19(1): 477.

BACKGROUND: We have held a ‘trouble-shooting’ clinic for Rett syndrome patients from 2003 until the COVID pandemic in 2020. The clinic was multidisciplinary, including clinical genetics, paediatric neurology, adult learning disability psychiatry and physiotherapy. Access to specialist communication support and eye-gaze equipment was also often available. We have reviewed the files of patients seen in the clinic and conducted a survey of parents’ and carers’ satisfaction with the clinic and their experiences during COVID. RESULTS: Of the 117 patients seen in the clinic, records were reviewed of 103 (97 female, six male) who attended a total of 123 appointments. The records were unavailable for 14 patients. The most common reasons for referral were assessment of ‘episodes’ of uncertain nature (possibly epileptic, possibly autonomic), the wish for a general review by an experienced team, and questions about the diagnosis. We discuss the nature of the advice we were able to provide and offer some brief case vignettes. We wrote to the parents or carers of all patients seen and 63 respondents were willing to be interviewed about the clinic and their experiences during COVID. Respondents were generally complimentary about the clinic team, emphasising the value of a specialist clinic for those affected by a rare condition. Respondents gave insight into the range of problems experienced during COVID, especially the isolation resulting from the withdrawal of services, demonstrating the value of community support. Some respondents mentioned the shift to remote consultations, which they hoped would continue after COVID for its convenience. However, others talked about how difficult it is in a remote consultation to explain the problems of the affected family member to professionals who do not know the patient or know about Rett syndrome. CONCLUSIONS: Our findings demonstrate the value of a disease-specific clinic provided by staff experienced with the particular rare condition. Meeting the needs of patients with ultra-rare conditions presents additional challenges. We have also found that the shift to holding a virtual clinic during COVID brought the benefit of convenience but was unsatisfactory in other ways, as it makes clinical assessment more difficult and fails to overcome the sense of isolation during a pandemic.

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14. Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures. Genet Med. 2024: 101347.

PURPOSE: RORA encodes the RAR-related orphan receptor-α (RORα), playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder (RORA-NDD). METHODS: Forty individuals (30 unrelated; 10 siblings from 4 families) carrying RORA pathogenic/likely pathogenic variants were collected through an international collaboration. RESULTS: The 33 variants (29 de novo, 4 inherited, one shared), identified by genome/exome sequencing (n=21), chromosomal-microarray-analysis (n=7) or gene panels (n=4), included frameshift (n=18/33), missense (n=9/33) and stop-codon (n=6/33). Developmental disability (n=32/37), intellectual disability (n=22/32), and cerebellar signs (n=25/34) were the most striking clinical features. Cerebellar symptoms were divided into early-onset, late-onset and progressive subgroups. Cerebellar hypoplasia, atrophy, or both (n=16/25) were more frequent in individuals with missense variants in the DNA-binding-domain (DBD). Epilepsy (n=18/38), with prominent myoclonic seizure types (n=11/18), was classified in: i) genetic generalized epilepsy (n=10/18) with a syndromic diagnosis identifiable for six: epilepsy with eyelid myoclonia (n=5/6), epilepsy with myoclonic absence (n=1/6); ii) developmental and epileptic encephalopathy (n=5/18); and iii) unclassified (n=3/18). A participant with rapid deterioration of visual acuity and cone/rod dystrophy was reported. CONCLUSION: Missense variants in DBD correlate to a more severe cerebellar phenotype. The RORA-NDD triad comprises developmental disability, cerebellar features and a spectrum of myoclonic epilepsy.

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15. Tarzi G, Yip A, Jiwa MI, Thakur A, Mishra S, Koch L, Mendoza O, Perera A, McKenzie L, Lunsky Y. Experiences, attitudes, and knowledge of medical students regarding intellectual and developmental disability: a Canadian study. BMC Med Educ. 2024; 24(1): 1509.

BACKGROUND: As the healthcare of individuals with intellectual and developmental disabilities (IDD) shifts toward community-based services, physicians in all areas of medicine are more likely to care for this population. To ensure that all physicians can provide high-quality care to people with IDD, further understanding and attention to undergraduate medical education related to IDD is needed. METHODS: A 24-item survey assessed the experiences, attitudes, knowledge, skills, and future interest of Canadian medical students regarding IDD. Descriptive statistics were calculated for questionnaire responses and responses of students who had more in-depth experience were compared to those of students with minimal past experience. RESULTS: A total of 443 Canadian medical students completed the survey. Students did not feel competent obtaining clear histories from people with IDD. Most students were not confident they could provide quality care to this population but wanted further learning. Students with prior IDD experiences through family/friends felt more knowledgeable and interested in caring for this population than those with community/clinical and minimal experiences. DISCUSSION: Many Canadian medical students lack the knowledge and skills needed to adequately care for people with IDD. Despite this, a majority of students were interested in further learning opportunities to improve care for people with IDD. These findings underscore the necessity of evaluating the current medical curriculum and implementing measures to better prepare students to care for this population.

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16. Zhang Q, Yang X, Qiu J, Lu W. Systemic heterogeneity in autism spectrum disorder revealed by individualized structural covariance network analysis. Prog Neuropsychopharmacol Biol Psychiatry. 2024; 136: 111224.

BACKGROUND AND PURPOSE: Autism spectrum disorder (ASD) is clinically heterogeneous, and resent neuroimaging studies have shown the presence of brain structural heterogeneity in ASD. However, there is currently a lack of evidence for systemic level brain structural heterogeneity. This study aimed to reveal the heterogeneity of brain structural changes at the systemic level in ASD patients through individual differential structural covariance network (IDSCN) analysis. MATERIALS AND METHODS: We included 803 neurotypical controls (NCs) and 650 ASD patients from 24 sites and the corresponding structural magnetic resonance and clinical data. 516 ASD patients were used as training group, and 134 ASD patients were selected as an independent validation group. In the training group, we constructed IDSCN for each ASD patient, identified differentiated structural covariance edges, and resolved systemic heterogeneity using K-means clustering algorithm. We then conducted statistical analyses on the demographical and clinical data of the ASD subgroups, and performed correlation analyses between structural covariance edges and clinical profiles within each ASD subgroup. We also tested the reliability of the IDSCN in the validation group. RESULTS: The results of the training and validation groups were similar, revealing two subtypes of ASD, with 17 brain connections showing differences between the two subtypes. There were differences in clinical profiles between the two subgroups in restricted repetitive behavior score from autism diagnostic interview-revised (ADI_RRB_TOTAL), total score of autism diagnostic observation schedule (ADOS), social interaction score from ADOS and stereotyped behaviors score from ADOS. In both datasets, we also found a significant correlation between ADI_RRB_TOTAL scale and the Z-score for edges between the bilateral ventral tegmental area (VTA) and between the left VTA and right substantia nigra pars compacta. CONCLUSION: ASD exhibited brain structural heterogeneity at the systemic level, mainly involving nucleus in the subcortical regions and brainstem, which can affect RRB in ASD patients. The two subtypes discovered in this study have the potential to be applied in precise diagnosis and treatment of the disorder.

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