1. Blume J, Kahathuduwa C, Mastergeorge A. Intrinsic Structural Connectivity of the Default Mode Network and Behavioral Correlates of Executive Function and Social Skills in Youth with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2022.

Brain connectivity of individuals with autism spectrum disorders (ASD) is heterogenous, as are the behavioral manifestations. The current study investigated brain-behavior relationships in the context of social skills and executive function profiles with data from the Autism Brain Imaging Database Exchange II. We calculated connectivity measures from diffusion tensor imaging using Bayesian estimation and probabilistic tractography. Subsequently, we performed structural equation modeling by regressing three latent factors, yielded from an exploratory factor analysis, onto total default mode network (DMN) connectivity. Both social regulation processing and self-directed cognitive processing factors moderately, negatively correlated with total DMN connectivity. Our findings indicate social regulation processing difficulties in youth with ASD may be attributable to impaired connectivity between the anterior and posterior DMN.

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2. Chance S, Cividini-Motta C, Livingston C. Assessing the Effects of Observational Conditioning and Response-Contingent Pairing on the Vocalizations of Children With Autism Spectrum Disorder. The Analysis of verbal behavior. 2021; 37(2): 194-216.

Children with autism spectrum disorder (ASD) often display impairments in communication, such as limited echoic behavior, few vocal-verbal responses, and a lack of functional communication. One potential way to foster the acquisition of vocal responses in individuals with disabilities is by conditioning vocalizations as reinforcers. Conditioning procedures include stimulus-stimulus pairing, response-contingent pairing (RCP), operant discrimination training, and observational conditioning (OC). However, previous research has not evaluated whether OC can be used to condition vocalizations as reinforcers. The current study assessed whether two conditioning procedures, RCP and OC, were effective in conditioning vocalizations as a reinforcer and also evaluated their effect on the rate of vocalizations. Participants included three children with ASD, ages 5-10 years old. During the conditioning phase, rates of vocalizations during the RCP and OC conditions and a control condition were compared within an adapted alternating-treatments design. Reinforcer assessments were completed in a multielement design, pre- and postconditioning, to assess whether the target vocalizations acquired reinforcing properties. A conditioning effect and an increase in the rate of vocalizations were observed for two of the three participants; however, the conditioning effect was minor for one participant. Overall, the results of this study indicate both the RCP and OC procedures may be beneficial in increasing vocalizations for some children and could be incorporated into clinical programs and further explored in future research.

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3. Chi IJ, Lin LY. Using the Assessment of Motor and Process Skills and the Pediatric Evaluation of Disability Inventory to Assess Self-Care Performance Among Preschool Children With Autism Spectrum Disorder. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(2).

IMPORTANCE: Caregiver rating scales often give an unclear picture of the actual self-care performance of preschool children with autism spectrum disorder (ASD). OBJECTIVE: To assess self-care performance among preschool children with ASD using two standardized instruments. DESIGN: Cross-sectional study. SETTING: Clinics, hospitals, and early intervention centers in Tainan, Taiwan. PARTICIPANTS: Sixty children with ASD (ages 48-71 mo). Outcomes and Measures: The Standard Version of the Childhood Autism Rating Scale-Second Edition, the Assessment of Motor and Process Skills (AMPS), and the Chinese version of the Pediatric Evaluation of Disability Inventory (PEDI-C). RESULTS: About 53.3% of children with ASD scored below 1.5 logits for AMPS motor skills and below 1 logit for AMPS process skills, indicating difficulties performing activities of daily living tasks. The average PEDI-C self-care normative standard scores were moderately low (between -1 and -2 SDs), indicating poor self-care performance. The correlations between the two measures were also low (rs = .27-.44). Overall, the results for 36 children were consistent with AMPS and PEDI-C scores; however, those for 24 children (40.0%) were discrepant. CONCLUSIONS AND RELEVANCE: These findings have implications for how preschool children with ASD perform their self-care activities and suggest that more than half of preschool children with ASD have a need for occupational therapy interventions that target self-care skills. Occupational therapy practitioners can work with preschool children with ASD and their families to help them improve their self-care performance. What This Article Adds: Many children with ASD need occupational therapy interventions that target self-care skills. Both the AMPS and the PEDI-C provide valuable information from different perspectives on the self-care performance of preschool children with ASD.

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4. Chowdhury T, Shankar M, Gousy N, Siddique B. A Rare Case of Job Syndrome With Autism: Complicated With Hidradenitis Suppurativa and Chronic Deep Vein Thrombosis. Cureus. 2021; 13(12): e20832.

Job syndrome or hyper-immunoglobulin E syndrome is one of the rare immunologic diseases with only about 300 cases described in the literature until now. Given their low prevalence, our understanding of both autosomal dominant and recessive Job syndromes is still evolving. No specific treatment options are available but early diagnosis may help in treating cases prophylactically with antibiotics and wound care to reduce the patient’s burden. We recently encountered a patient diagnosed with Job syndrome with autism who presented with an abscess in the right axillary region. We report this case for its rarity and unique association with developmental neurologic disorder. It is crucial to review this rare syndrome to circumvent any diagnostic delay. Following the disease course and taking all the associations into account is also vital for the clinician’s understanding as well as implementing the treatment plan.

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5. Emmanuel CJ, Knafl KA, Hodges EA, Docherty SL, O’Shea TM, Santos HP, Jr. Family members’ experience of well-being as racial/ethnic minorities raising a child with a neurodevelopmental disorder: A qualitative meta-synthesis. Research in nursing & health. 2022; 45(3): 314-26.

Raising a child with a neurodevelopmental disorder has often been associated with poorer quality of life and family functioning. Yet, many family members describe themselves as resilient and capable of achieving well-being. Whether and how this occurs in racial/ethnic minority families remains largely unexplored. The aim of this study was to systematically synthesize qualitative studies exploring how families from a racial/ethnic minority background in the United States (1) experienced well-being and (2) responded to challenges they faced while caring for a child diagnosed with three selected neurodevelopmental disorders: autism spectrum disorder, attention deficit hyperactivity disorder, and intellectual disability. A systematic literature search was conducted in November and December of 2019 and updated in October 2021. Three themes were developed based on included studies: « moving toward well-being as a caregiver, » « family and culture: impact on well-being, » and « community and culture: impact on well-being. » The findings in this review indicate that to develop well-being, racial/ethnic minority families faced additional barriers, including racial/ethnic discrimination and stigma within their family and cultural community. The knowledge generated has the potential to identify areas of intervention to promote resilience and well-being in racial/ethnic minority families raising a child with a neurodevelopmental disorder.

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6. Gao L, Wang C, Song XR, Tian L, Qu ZY, Han Y, Zhang X. The Sensory Abnormality Mediated Partially the Efficacy of Repetitive Transcranial Magnetic Stimulation on Treating Comorbid Sleep Disorder in Autism Spectrum Disorder Children. Frontiers in psychiatry. 2021; 12: 820598.

Sleep disorder emerges as a common comorbidity in children with autism spectrum disorder (ASD), and the interaction between the core symptoms of ASD and its sleep disorder remains unclear. Repetitive transcranial magnetic stimulation (rTMS) was used on the bilateral dorsolateral prefrontal cortex (DLPFC) to investigate the efficacy of rTMS on the core symptoms of ASD and comorbid sleep problems as well as the mediation role of the ASD symptoms between rTMS intervention and sleep improvement. A total of 41 Chinese children with ASD and who met the criteria in the fifth edition of the American Diagnostic and Statistical Manual of Mental Disorders were recruited, and 39 of them (mean age: 9.0 ± 4.4 years old; the male-female ratio was 3.9: 1) completed the study with the stimulating protocol of high frequency on the left DLPFC and low frequency on the right DLPFC. They were all assessed three times (before, at 4 weeks after, and at 8 weeks after the stimulation) by the Children’s Sleep Habits Questionnaire (CSHQ), Strengths and Difficulties Questionnaire (SDQ), Childhood Autism Rating Scale, Repetitive Behavior Questionnaire-2, and Short Sensory Profile (SSP). The repeated-measures ANOVA showed that the main effect of « intervention time » of CSHQ (F = 25.103, P < 0.001), SSP (F = 6.345, P = 0.003), and SDQ (F = 9.975, P < 0.001) was statistically significant. By Bayesian mediation analysis, we only found that the total score of SSP mediated the treating efficacy of rTMS on CSHQ (αβ = 5.11 ± 1.51, 95% CI: 2.50-8.41). The percentage of mediation effect in total effect was 37.94%. Our results indicated the treating efficacy of rTMS modulation on bilateral DLPFC for both autistic symptoms and sleep disturbances. The sensory abnormality of ASD mediated the improvement of rTMS on sleep problems of ASD.

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7. Gorgels KMF, Dingemans J, van der Veer B, Hackert V, Hensels AYJ, den Heijer CDJ, van Alphen LB, Savelkoul PHM, Hoebe C. Linked nosocomial COVID-19 outbreak in three facilities for people with intellectual and developmental disabilities due to SARS-CoV-2 variant B.1.1.519 with spike mutation T478K in the Netherlands. BMC infectious diseases. 2022; 22(1): 139.

BACKGROUND: Individuals with intellectual and developmental disabilities (IDD) living in congregated settings have increased risk of COVID-19 infection and mortality. Little is known about variant B.1.1.519 with spike mutation T478K, dominant in Mexico. We describe a linked SARS-CoV-2 B.1.1.519 outbreak in three IDD facilities in the Netherlands. METHODS: Following notification of the index, subsequent cases were identified through serial PCR group testing. Positive specimens were submitted for whole-genome-sequencing. Clinical information was gathered through interviews with staff members of the three facilities. RESULTS: Attack rate (AR) in clients of the index facility was 92% (23/25), total AR in clients 45% (33/73) and in staff members 24% (8/34). 55% (18/33) of client cases were asymptomatic, versus 25% (2/8) of staff members. Five client cases (15%) were hospitalized, two died (6%). Sequencing yielded the same specific B.1.1.519 genotype in all three facilities. No significant difference in median viral load was established comparing the B.1.1.519 variant with other circulating variants. The index of the linked outbreak reported no travel history or link to suspected or confirmed cases suggesting regional surveillance. Observed peak regional prevalence of B.1.1.519 during the outbreak supports this. CONCLUSION: AR, morbidity and mortality prior to control measures taking effect were high, probably related to the specific characteristics of the IDD setting and its clients. We assessed no evidence for intrinsic contributing properties of variant B.1.1.519. Our study argues for enhanced infection prevention protocols in the IDD setting, and prioritization of this group for vaccination against COVID-19.

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8. Huang Y, Chung ACS. Disease prediction with edge-variational graph convolutional networks. Medical image analysis. 2022; 77: 102375.

The need for computational models that can incorporate imaging data with non-imaging data while investigating inter-subject associations arises in the task of population-based disease analysis. Although off-the-shelf deep convolutional neural networks have empowered representation learning from imaging data, incorporating data of different modalities complementarily in a unified model to improve the disease diagnostic quality is still challenging. In this work, we propose a generalizable graph-convolutional framework for population-based disease prediction on multi-modal medical data. Unlike previous methods constructing a static affinity population graph in a hand-crafting manner, the proposed framework can automatically learn to build a population graph with variational edges, which we show can be optimized jointly with spectral graph convolutional networks. In addition, to estimate the predictive uncertainty related to the constructed graph, we propose Monte-Carlo edge dropout uncertainty estimation. Experimental results on four multi-modal datasets demonstrate that the proposed method can substantially improve the predictive accuracy for Autism Spectrum Disorder, Alzheimer’s disease, and ocular diseases. A sufficient ablation study with in-depth discussion is conducted to evaluate the effectiveness of each component and the choice of algorithmic details of the proposed method. The results indicate the potential and extendability of the proposed framework in leveraging multi-modal data for population-based disease prediction.

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9. Hughes RB, Whittingham-Dowd J, Clapcote SJ, Broughton SJ, Dawson N. Altered medial prefrontal cortex and dorsal raphé activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion. Autism research : official journal of the International Society for Autism Research. 2022; 15(4): 614-27.

2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. We have a poor understanding of how NRXN1 heterozygosity impacts on brain function and cognition to increase the risk of developing the disorder. Here we characterize the impact of Nrxn1α heterozygosity on cerebral metabolism, in mice, using (14) C-2-deoxyglucose imaging. We also assess performance in an olfactory-based discrimination and reversal learning (OB-DaRL) task and locomotor activity. We use decision tree classifiers to test the predictive relationship between cerebral metabolism and Nrxn1α genotype. Our data show that Nrxn1α heterozygosity induces prefrontal cortex (medial prelimbic cortex, mPrL) hypometabolism and a contrasting dorsal raphé nucleus (DRN) hypermetabolism. Metabolism in these regions allows for the predictive classification of Nrxn1α genotype. Consistent with reduced mPrL glucose utilization, prefrontal cortex insulin receptor signaling is decreased in Nrxn1α(+/-) mice. Behaviorally, Nrxn1α(+/-) mice show enhanced learning of a novel discrimination, impaired reversal learning and an increased latency to make correct choices. In addition, male Nrxn1α(+/-) mice show hyperlocomotor activity. Correlative analysis suggests that mPrL hypometabolism contributes to the enhanced novel odor discrimination seen in Nrxn1α(+/-) mice, while DRN hypermetabolism contributes to their increased latency in making correct choices. The data show that Nrxn1α heterozygosity impacts on prefrontal cortex and serotonin system function, which contribute to the cognitive alterations seen in these animals. The data suggest that Nrxn1α(+/-) mice provide a translational model for the cognitive and behavioral alterations seen in autism and other neurodevelopmental disorders associated with 2p16.3 deletion. LAY SUMMARY: Deletion of the chromosomal region 2p16.3, involving reduced NEUREXIN1 gene expression, dramatically increases the risk of developing autism. Here, we show that reduced Neurexin1α expression, in mice, impacts on the prefrontal cortex and impairs cognitive flexibility. The data suggest that 2p16.3 deletion increases the risk of developing autism by impacting on the prefrontal cortex. Mice with the deletion are a useful model for testing new drugs to treat the cognitive flexibility problems experienced by people with autism.

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10. Kumazaki H, Yoshikawa Y, Muramatsu T, Haraguchi H, Fujisato H, Sakai K, Matsumoto Y, Ishiguro H, Sumiyoshi T, Mimura M. Group-Based Online Job Interview Training Program Using Virtual Robot for Individuals With Autism Spectrum Disorders. Frontiers in psychiatry. 2021; 12: 704564.

The rapid expansion of online job interviews during the COVID-19 pandemic is expected to continue after the pandemic has subsided. These interviews are a significant barrier for individuals with autism spectrum disorders (ASD). There is little evidence-based training for online job interviews for individuals with ASD, and the development of new trainings is expected. In an effort to facilitate online job interview skill acquisition for individuals with ASD, we developed a group-based online job interview training program using a virtual robot (GOT). In GOT, the interviewer and interviewee are projected as virtual robots on the screen. Five participants were grouped and performed the role of interviewee, interviewer, and evaluator. The participants performed all roles in a random order. Each session consisted of a first job interview session, feedback session, and second job interview session. The participants experienced 25 sessions. Before and after GOT, the participants underwent a mock online job interview with a human professional interviewer (MOH) to evaluate the effect of GOT. In total, 15 individuals with ASD took part in the study. The GOT improved self-confidence, motivation, the understanding of others’ perspectives, verbal competence, non-verbal competence, and interview performance scores. There was also a significant increase in the recognition of the importance of the point of view of interviewers and evaluators after the second MOH compared to after the first MOH. Using a VR robot and learning the importance of interview skills by experiencing other perspectives (i.e., viewpoint of interviewer and evaluator) may have sustained their motivation and enabled greater self-confidence. Given the promising results of this study and to draw definitive conclusions regarding the efficacy of virtual reality (VR) robots for mock online job interview training, further studies with larger, more diverse samples of individuals with ASD using a longitudinal design are warranted.

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11. Mann CC, Karsten AM. Assessment and Treatment of Prosody Behavior in Individuals with Level 1 Autism: A Review and Call for Research. The Analysis of verbal behavior. 2021; 37(2): 171-93.

Differences in prosody behavior between individuals with autism spectrum disorder (ASD) and their typically developing peers have been considered a central feature of ASD since the earliest clinical descriptions of the disorder (e.g., Kanner, 1943/1973). Prosody includes pitch and volume among other dimensions of vocal-verbal behavior that discriminate responses of the listener; thus, people with ASD whose prosody has confusing or off-putting effects may have fewer social opportunities at work, at school, or in the community. The purpose of this review is to examine the state of the literature intervening on prosody with individuals with ASD and to provide recommendations for researchers who are interested in contributing to the scientific understanding of prosody.

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12. Matrisciano F, Locci V, Dong E, Nicoletti F, Guidotti A, Grayson DR. Altered Expression and in vivo Activity of mGlu5 variant a Receptors in the striatum of BTBR mice: Novel insights into the pathophysiology of adult idiopathic forms of autism spectrum disorders. Current neuropharmacology. 2022.

mGlu5 metabotropic glutamate receptors are considered as candidate drug targets in the treatment of « monogenic » forms of autism spectrum disorders (ASD), such as Fragile-X syndrome (FXS). However, despite promising preclinical data, clinical trials using mGlu5 receptor antagonists to treat FXS showed no beneficial effects. Here, we studied the expression and function of mGlu5 receptors in the striatum of adult BTBR mice, which model idiopathic forms of ASD. Both mRNA (splice variant a) and protein levels of mGlu5 receptors were considerably higher in the striatum of BTBR mice. This was associated with a greater mGlu5 receptor-mediated polyphosphoinositides (PI) hydrolysis, that was sensitive to in vivo treatment with the mGlu5 receptor negative allosteric modulator, MTEP. Striatal up-regulation of mGlu5 receptors was associated with changes in the expression of genes encoding for proteins involved in excitatory and inhibitory neurotransmission and synaptic plasticity, including Fmr1, Dlg4 (PSD-95), Shank3 (all increased), Brd4, bdnf-exon IX, Mef2c, and Arc (all increased), GriA2, Glun1, Nr2A (all increased) and Grm1 (mGlu1), Grm2 (mGlu2), GriA1 (GluA1), and Gad1 (GAD-67) (all decreased). Behaviorally, BTBR mice showed high repetitive stereotypical behaviors, including self-grooming and deficits in social interactions. Acute or repeated (5 days) injections with MTEP (10 mg/kg, i.p.) reversed the stereotyped behavior and the social interaction deficit. Similar effects were observed with the NMDA receptor blockers MK-801 or ketamine. These findings support a pivotal role of mGlu5 receptor splice variant a abnormal expression and function in adult forms of idiopathic forms of ASD and unveil novel potential targets for therapy.

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13. Prescott KE, Mathée-Scott J, Reuter T, Edwards J, Saffran J, Ellis Weismer S. Predictive language processing in young autistic children. Autism research : official journal of the International Society for Autism Research. 2022.

Recent theories propose that domain-general deficits in prediction (i.e., the ability to anticipate upcoming information) underlie the behavioral characteristics associated with autism spectrum disorder (ASD). If these theories are correct, autistic children might be expected to demonstrate difficulties on linguistic tasks that rely on predictive processing. Previous research has largely focused on older autistic children and adolescents with average language and cognition. The present study used an eye-gaze task to evaluate predictive language processing among 3- to 4-year-old autistic children (n = 34) and 1.5- to 3-year-old, language-matched neurotypical (NT) children (n = 34). Children viewed images (e.g., a cake and a ball) and heard sentences with informative verbs (e.g., Eat the cake) or neutral verbs (e.g., Find the cake). Analyses of children’s looking behaviors indicated that young autistic children, like their language-matched NT peers, engaged in predictive language processing. Regression results revealed a significant effect of diagnostic group, when statistically controlling for age differences. The NT group displayed larger difference scores between the informative and neutral verb conditions (in looks to target nouns) compared to the ASD group. Receptive language measures were predictive of looking behavior across time for both groups, such that children with stronger language skills were more efficient in making use of informative verbs to process upcoming information. Taken together, these results suggest that young autistic children can engage in predictive processing though further research is warranted to explore the developmental trajectory relative to NT development.

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14. Robinson LA, Gaugh L, Yapo S, Al-Sumairi R, Lorenzo A, Weiss M. Defragmenting the path to diagnosis for underserved youth with Autism Spectrum Disorder in a community-based health system. Healthcare (Amsterdam, Netherlands). 2022; 10(1): 100597.

Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder that affects about 1 out of every 54 youth and is characterized by impairments in social communication and functioning. ASD is a treatable condition though, and early initiation of interventions in the home and community can lead to improved long-term outcomes. Despite the clear benefits of early diagnosis and intervention, many youth, particularly from impoverished and minoritized populations, face tremendous barriers to accessing a timely formal diagnosis and critical early supports. Many of these barriers are inherent features of a fragmented health care system that even the most resourced of families struggle to navigate. Informed by the principles of coproduction of health care, value-based care design, and health equity, we present a quality improvement initiative to defragment the experience of care for underserved families seeking a timely formal diagnosis of ASD in a safety-net community-based health system. Over the course of 2.5 years, we were able to partner with families to create clinical workflows that cut in half the duration of time from first developmental concern to ASD diagnosis, and lowered the median age of ASD diagnosis in our health system by more than 3 years. We share our process and lessons learned in the hopes of helping other health systems pursuing similar goals for patient- and family-centered care design.

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15. Schilbach L. Autism and other disorders of social interaction: where we are and where to go from here. European archives of psychiatry and clinical neuroscience. 2022; 272(2): 173-5.

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16. Shaffer RC, Schmitt LM, Reisinger DL, Coffman M, Horn P, Goodwin MS, Mazefsky C, Randall S, Erickson C. Regulating Together: Emotion Dysregulation Group Treatment for ASD Youth and Their Caregivers. Journal of autism and developmental disorders. 2022.

Individuals with autism spectrum disorder (ASD) experience behavioral and emotional symptoms hypothesized to arise from emotion dysregulation (ED), difficulty modulating emotional experience, expression, and intensity in an acceptable and contextually appropriate manner. We developed Regulating Together (RT)-an intensive-outpatient, caregiver-assisted group program to meet the ASD + ED intervention critical need. A within-subjects trial was conducted (5-week-control lead-in period, 5-week-treatment, and 5-and 10-weeks-post-treatment follow-ups). Forty-four youth with ASD + ED (25 8-12, 19 13-18 yr-olds, 88% male, mean FSIQ of 96) participated. Improvements were found in reactivity, emotion regulation knowledge, and flexibility post-treatment and 10-weeks post-treatment. A reduction in inpatient hospitalization rates by 16% from the 12 months pre-RT to 12 months post-RT was observed. RT shows promise to reduce ED in ASD.

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17. Stavropoulos KK, Bolourian Y, Blacher J. A scoping review of telehealth diagnosis of autism spectrum disorder. PloS one. 2022; 17(2): e0263062.

BACKGROUND: Considering the COVID-19 pandemic, understanding the reliability, validity, social validity, and feasibility of using telehealth to diagnose ASD is a critical public health issue. This paper examines evidence supporting the use of telehealth methods to diagnose ASD and outlines the necessary modifications and adaptations to support telehealth diagnosis. METHODS AND PROCEDURES: Studies were identified by searching PubMed and PsychInfo electronic databases and references lists of relevant articles. Only peer reviewed articles published in English with a focus on using telehealth for the purposes of diagnosing ASD were included. Searches were conducted through June 3rd, 2021. OUTCOMES AND RESULTS: A total of 10 studies were identified as meeting inclusion criteria. Of the eight papers that reported on reliability (e.g., accuracy), telehealth methods to diagnose ASD were between 80-91% accurate when compared with traditional in-person diagnosis. Six studies reported on validity (i.e., sensitivity and/or specificity). All six studies calculated sensitivity, with values ranging from 75% and 100%. Five of the six studies calculated specificity, with values ranging from 68.75% and 100%. The seven papers that reported social validity indicated that caregivers, as well as adult participants and clinicians, were mostly satisfied with telehealth. Feasibility was reported by seven studies and suggests that telehealth methods appear largely viable, though some challenges were reported. CONCLUSIONS AND IMPLICATIONS: Although findings reviewed here are promising, more research is needed to verify the accuracy, validity, and feasibility of utilizing telehealth to diagnose ASD. Studies with larger sample sizes and samples across sites will be critical, as these will allow clinicians to identify subjects most likely to benefit from telehealth as well as those more likely to require an in-person assessment. This research is important not only due to the current pandemic, but also due to increased prevalence rates of ASD and an insufficient number of diagnostic providers-particularly in rural and/or otherwise under-served communities.

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18. Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. Human mutation. 2022; 43(5): 568-81.

Genome sequencing (GS) has been used in the diagnosis of global developmental delay (GDD)/intellectual disability (ID). However, the performance of GS in patients with inconclusive results from chromosomal microarray analysis (CMA) and exome sequencing (ES) is unknown. We recruited 100 pediatric GDD/ID patients from multiple sites in China from February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test before enrollment. Reanalysis of their CMA/ES data was performed. The yield of GS was calculated and explanations for missed diagnoses by CMA/ES were investigated. Clinical utility was assessed by interviewing the parents by phone. The overall diagnostic yield of GS was 21%. Seven cases could have been solved with reanalysis of ES data. Thirteen families were missed by previous CMA/ES due to improper methodology. Two remained unsolved after ES reanalysis due to complex variants missed by ES, and a CNV in untranslated regions. Follow-up of the diagnosed families revealed that nine families experienced changes in clinical management, including identification of targeted treatments, cessation of unnecessary treatment, and considerations for family planning. GS demonstrated high diagnostic yield and clinical utility in this undiagnosed GDD/ID cohort, detecting a wide range of variant types of different sizes in a single workflow.

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19. Zhang M, Huang Y, Jiao J, Yuan D, Hu X, Yang P, Zhang R, Wen L, Situ M, Cai J, Sun X, Guo K, Huang X, Huang Y. Transdiagnostic symptom subtypes across autism spectrum disorders and attention deficit hyperactivity disorder: validated by measures of neurocognition and structural connectivity. BMC psychiatry. 2022; 22(1): 102.

BACKGROUNDS: Autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are neurodevelopmental disorders that exhibit within-disorder heterogeneity and cross-disorder phenotypic overlap, thus suggesting that the current disease categories may not fully represent the etiologic essence of the disorders, especially for highly comorbid neurodevelopmental disorders. In this study, we explored the subtypes of a combined sample of ASD and ADHD by integrating measurements of behavior, cognition and brain imaging. METHODS: A total of 164 participants, including 65 with ASD, 47 with ADHD, and 52 controls, were recruited. Unsupervised machine learning with an agglomerative hierarchical clustering algorithm was used to identify transdiagnostic symptom clusters. Neurocognition and brain structural connectivity measurements were used to assess symptom clusters. Mediation analysis was used to explore the relationship between transdiagnostic symptoms, neurocognition and brain structural connectivity. RESULTS: We identified three symptom clusters that did not fall within the diagnostic boundaries of DSM. External measurements from neurocognition and neuroimaging domains supported distinct profiles, including fine motor function, verbal fluency, and structural connectivity in the corpus callosum between these symptom clusters, highlighting possible biomarkers for ASD and ADHD. Additionally, fine motor function was shown to mediate the relationship between the corpus callosum and perseveration symptoms. CONCLUSIONS: In this transdiagnostic study on ASD and ADHD, we identified three subtypes showing meaningful associations between symptoms, neurocognition and brain white matter structural connectivity. The fine motor function and structural connectivity of corpus callosum might be used as biomarkers for neurodevelopmental disorders with social skill symptoms. The results of this study highlighted the importance of precise phenotyping and further supported the effects of fine motor intervention on ASD and ADHD.

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