1. Afroz KF, Reyes N, Young K, Parikh K, Misra V, Alviña K. Author Correction: Altered gut microbiome and autism like behavior are associated with parental high salt diet in male mice. Scientific reports. 2022; 12(1): 5686.

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2. Bican R, Ferrante R, Hendershot S, Byars M, Lo W, Heathcock JC. Daily Outpatient Physical Therapy for a Toddler With a Neurodegenerative Disease: A Case Report. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2022; 34(2): 261-7.

PURPOSE: This case report highlights the potential value of delivering a high-dose physical therapy (PT) intervention for a child with a neurodegenerative disease. We include developmental outcomes for a 23-month-old toddler with biallelic TBCD gene mutations following daily outpatient PT. SUMMARY OF KEY POINTS: The child had clinical improvements in gross and fine motor, cognition, expressive and receptive language, socioemotional, and adaptive behavior function as determined through Goal Attainment Scaling, Gross Motor Function Measure, and Bayley Scales of Infant and Toddler Development following daily PT intervention. STATEMENT OF CONCLUSION AND RECOMMENDATIONS FOR CLINICAL PRACTICE: High-dose outpatient PT may be beneficial for a child with a neurodegenerative disease at some time frames. In selected cases, if the neurodegenerative disease slowly progresses, high-dose PT may be a treatment option to promote motor change.

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3. Cardillo R, Lievore R, Mammarella IC. Do children with and without autism spectrum disorder use different visuospatial processing skills to perform the Rey-Osterrieth complex figure test?. Autism research : official journal of the International Society for Autism Research. 2022.

Visuospatial organization abilities are closely related to other visuospatial processing skills, such as visuomotor coordination, perceptual abilities, mental rotation, and working memory (WM). One task that enables visuospatial organization abilities to be investigated is the Rey-Osterrieth complex figure test (ROCFT). When examining visuospatial functioning, individuals with autism spectrum disorder (ASD) have proved capable of operating both locally and globally, depending on the sub-domain embraced, with a preference for a locally-oriented processing of visuospatial information. The present research aimed to establish whether different underlying visuospatial skills might account for performance in the ROCFT in children and adolescents with ASD, compared with typically developing (TD), by considering the role of local/global visuospatial processing. The study involved 39 participants who have ASD without intellectual disability, and 57 TD aged 8-16 years. The participants were administered tasks assessing visuospatial organization abilities, manual dexterity, visual perception, mental rotation, spatial-sequential, spatial-simultaneous WM, and visuospatial processing. Our results suggest that manual dexterity and visuospatial processing similarly explain performance in both groups, while differences in visuospatial WM account for the two groups’ visuospatial organization abilities. Spatial-simultaneous WM predicted performance in copy and recall conditions in the TD group but not in the ASD group, while spatial-sequential WM only did so in the latter group, reinforcing the tendency of children with ASD towards local bias in the visuospatial organization domain. The implications of these findings are discussed. LAY SUMMARY: The visuospatial organization abilities of children and adolescents with and without autism were compared, considering their underlying visuospatial skills. Visuospatial organization impairments emerged for children with autism, who differed from typically developing children in the underlying visuospatial skills involved. Given the crucial role of visuospatial organization abilities in everyday life, our results could inspire practitioners to develop training interventions that take into account the strengths and weaknesses of individuals with autism.

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4. Fisher N, van Diest C, Leoni M, Spain D. Using EMDR with autistic individuals: A Delphi survey with EMDR therapists. Autism : the international journal of research and practice. 2022: 13623613221080254.

Eye Movement Desensitisation and Reprocessing (EMDR) is a psychological therapy that can help people process memories and distress about past events, so they have less impact on their daily lives. EMDR can be effective for treating symptoms of post-traumatic stress disorder, including nightmares and anxiety. Psychological therapies usually require adaptation so they are more accessible and effective for autistic people, but minimal research has focused on how best EMDR can be adapted. In this online survey study, we asked 103 EMDR therapists about barriers they think autistic people face when trying to have EMDR and what adaptations they use in their everyday practice. Four barriers were highlighted: client-related characteristics, therapist-related characteristics, differences in the therapeutic relationship and broader issues. Therapists identified a range of adaptations that can potentially be useful for autistic people, relating to being flexible, communicating clearly and having an awareness of individual differences. Many therapists emphasised the importance of not making assumptions about a person based on their autism diagnosis. Overall, the study findings suggest adaptations to EMDR are likely to be useful, but how relevant they are depends on each person.

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5. Gowen E, Poliakoff E, Shepherd H, Stadler W. Measuring the prediction of observed actions using an occlusion paradigm: Comparing autistic and non-autistic adults. Autism research : official journal of the International Society for Autism Research. 2022.

Action prediction involves observing and predicting the actions of others and plays an important role in social cognition and interacting with others. It is thought to use simulation, whereby the observers use their own motor system to predict the observed actions. As individuals diagnosed with autism are characterized by difficulties understanding the actions of others and motor coordination issues, it is possible that action prediction ability is altered in this population. This study compared action prediction ability between 20 autistic and 22 non-autistic adults using an occlusion paradigm. Participants watched different videos of a female actor carrying out everyday actions. During each video, the action was transiently occluded by a gray rectangle for 1000 ms. During occlusions, the video was allowed to continue as normal or was moved forward (i.e., appearing to continue too far ahead) or moved backwards (i.e., appearing to continue too far behind). Participants were asked to indicate after each occlusion whether the action continued with the correct timing or was too far ahead/behind. Autistic individuals were less accurate than non-autistic individuals, particularly when the video was too far behind. A trend analysis suggested that autistic participants were more likely to judge too far behind occlusions as being in time. These preliminary results suggest that prediction ability may be altered in autistic adults, potentially due to slower simulation or a delayed onset of these processes. LAY SUMMARY: When we observe other people performing everyday actions, we use their movements to help us understand and predict what they are doing. In this study, we found that autistic compared to non-autistic adults were slightly less accurate at predicting other people’s actions. These findings help to unpick the different ways that social understanding is affected in autism.

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6. Hall JB, Chole D, Wieberg L. Commentary on « Using Telehealth to Conduct Family-Centered, Movement Intervention Research in Children With Autism Spectrum Disorder During the COVID-19 Pandemic ». Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2022; 34(2): 252.

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7. Imam B, Rahmatinia M, Shahsavani A, Khodagholi F, Hopke PK, Bazazzpour S, Hadei M, Yarahmadi M, Abdollahifar MA, Torkmahalleh MA, Kermani M, Ilkhani S, MirBehbahani SH. Autism-like symptoms by exposure to air pollution and valproic acid-induced in male rats. Environmental science and pollution research international. 2022.

Exposure to air pollution during prenatal or neonatal periods is associated with autism spectrum disorder (ASD) according to epidemiology studies. Furthermore, prenatal exposure to valproic acid (VPA) has also been found to be associated with an increased prevalence of ASD. To assess the association between simultaneous exposure to VPA and air pollutants, seven exposure groups of rats were included in current study (PM(2.5) and gaseous pollutants exposed – high dose of VPA (PGE-high); PM(2.5) and gaseous pollutants exposed – low dose of VPA (PGE-low); gaseous pollutants only exposed – high dose of VPA (GE-high); gaseous pollutants only exposed – low dose of VPA (GE-low); clean air exposed – high dose of VPA (CAE-high); clean air exposed – low dose of VPA (CAE-low) and clean air exposed (CAE)). The pollution-exposed rats were exposed to air pollutants from embryonic day (E0) to postnatal day 42 (PND42). In all the induced groups, decreased oxidative stress biomarkers, decreased oxytocin receptor (OXTR) levels, and increased the expression of interleukin 6 (IL-6), interleukin 1β (IL-1β), and tumor necrosis factor alpha (TNF-α) were found. The volumes of the cerebellum, hippocampus, striatum, and prefrontal decreased in all induced groups in comparison to CAE. Additionally, increased numerical density of glial cells and decreased of numerical density of neurons were found in all induced groups. Results show that simultaneous exposure to air pollution and VPA can cause ASD-related behavioral deficits and air pollution reinforced the mechanism of inducing ASD ̉s in VPA-induced rat model of autism.

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8. Nugent JT, Bakhoum C, Ghazi L, Greenberg JH. Screening for Hypertension in Children With and Without Autism Spectrum Disorder. JAMA network open. 2022; 5(4): e226246.

This cross-sectional study compares the frequency of hypertension screening at health maintenance visits between children with and without autism.

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9. Prinsen J, Alaerts K. Broken or socially mistuned mirroring in ASD? An investigation via transcranial magnetic stimulation. Autism research : official journal of the International Society for Autism Research. 2022.

Individuals with an autism spectrum disorder (ASD) experience persistent difficulties during social interactions and communication. Previously, it has been suggested that deficits in the so-called « mirror system, » active during both action execution and observation, may underlie these social difficulties. It is still a topic of debate however whether deficiencies in the simulation of others’ actions (i.e., « broken » mirroring) forms a general feature of ASD, or whether these mostly reflect a lack of social attunement. The latter would suggest an overall intact mirror system, but an impaired modulation of mirror activity according to variable social contexts. In this study, 25 adults with ASD and 28 age- and IQ-matched control participants underwent transcranial magnetic stimulation during the observation of hand movements under variable conditions. Hand movements were presented via a live interaction partner, either without social context to assess basic motor mirroring or in combination with direct and averted gaze from the actor to assess socially modulated mirroring. Overall, no significant group differences were revealed, indicating no generally diminished mirror activity in ASD. Interestingly however, regression analyses revealed that, among ASD participants, higher symptom severity was associated with both reduced basic motor mirroring and aberrant socially modulated mirroring (i.e., no enhancement of mirror system activity upon observation of the interaction partner’s direct vs. averted gaze). These findings further challenge the notion that mirror system dysfunctions constitute a principal feature of ASD, but demonstrate that variations in mirroring may be related to differential expressions of ASD symptom severity. LAY SUMMARY: Our findings show similar activity levels in brain regions responsible for action simulation and understanding in adults with autism, compared to adults without autism. However, the presence of more severe autism symptoms was linked to reduced activity in these regions. This suggests lower levels of brain activity during action understanding in some, but not all, persons with autism, which may contribute to the social difficulties these persons experience in daily life.

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10. Rybner A, Jessen ET, Mortensen MD, Larsen SN, Grossman R, Bilenberg N, Cantio C, Jepsen JRM, Weed E, Simonsen A, Fusaroli R. Vocal markers of autism: Assessing the generalizability of machine learning models. Autism research : official journal of the International Society for Autism Research. 2022.

Machine learning (ML) approaches show increasing promise in their ability to identify vocal markers of autism. Nonetheless, it is unclear to what extent such markers generalize to new speech samples collected, for example, using a different speech task or in a different language. In this paper, we systematically assess the generalizability of ML findings across a variety of contexts. We train promising published ML models of vocal markers of autism on novel cross-linguistic datasets following a rigorous pipeline to minimize overfitting, including cross-validated training and ensemble models. We test the generalizability of the models by testing them on (i) different participants from the same study, performing the same task; (ii) the same participants, performing a different (but similar) task; (iii) a different study with participants speaking a different language, performing the same type of task. While model performance is similar to previously published findings when trained and tested on data from the same study (out-of-sample performance), there is considerable variance between studies. Crucially, the models do not generalize well to different, though similar, tasks and not at all to new languages. The ML pipeline is openly shared. Generalizability of ML models of vocal markers of autism is an issue. We outline three recommendations for strategies researchers could take to be more explicit about generalizability and improve it in future studies. LAY SUMMARY: Machine learning approaches promise to be able to identify autism from voice only. These models underestimate how diverse the contexts in which we speak are, how diverse the languages used are and how diverse autistic voices are. Machine learning approaches need to be more careful in defining their limits and generalizability.

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11. Sadikova E, Dovgan K, Mazurek MO. Longitudinal Examination of Sleep Problems and Symptom Severity in Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Up to 80% of children with autism spectrum disorder (ASD) experience sleep problems, which have been associated with more severe presentations of ASD symptoms. We examined the bidirectional link between sleep problems and specific ASD symptoms at two time points within 5 years in a well-characterized sample (659 children with ASD). Using cross-lagged panel analyses, we found evidence for a unidirectional link between baseline ASD symptoms (specifically repetitive behaviors, atypical behaviors, communication, and peer interactions) and future sleep problems, but did not find evidence of a bidirectional relationship. We did not find any longitudinal association between social reciprocity and sleep problems. It is important for providers and caregivers to understand and monitor the link between ASD symptoms and sleep problems.

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12. Sainsbury WJ, Carrasco K, Whitehouse AJO, Waddington H. Correction to: Parent-reported Early Atypical Development and Age of Diagnosis for Children with Co-occurring Autism and ADHD. Journal of autism and developmental disorders. 2022.

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13. Shi J. Travel as a Mode of responding to Autism Spectrum Disorder: One Family’s Journey. Journal of autism and developmental disorders. 2022: 1-4.

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14. Simpson D, Gharehgazlou A, Da Silva T, Labrie-Cleary C, Wilson AA, Meyer JH, Mizrahi R, Rusjan PM. In vivo imaging translocator protein (TSPO) in autism spectrum disorder. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2022.

Converging evidence points to the significant involvement of the immune system in autism spectrum disorders (ASD). Positron emission tomography (PET) can quantify translocator protein 18 kDa (TSPO), a marker with increased expression mainly in microglia and, to some extent astroglia during neuropsychiatric diseases with inflammation. This preliminary analysis explored, for the first time, whether TSPO binding was altered in male and female participants with ASD in vivo using full kinetic quantification. Thirteen individuals with ASD (IQ > 70 [n = 12], IQ = 62 [n = 1]), 5 F, 25 ± 5 years) were scanned with [(18)F]FEPPA PET. Data from 13 typically developing control participants with matching age and TSPO rs6971 polymorphism (9 F, age 24 ± 5 years) were chosen from previous studies for comparison. The two tissue compartment model (2TCM) was used to determine the total volume of distribution ([(18)F]FEPPA V(T)) in four previously identified regions of interest (ROI): prefrontal, temporal, cerebellar, and anterior cingulate cortices. We observe no significant difference in [(18)F]FEPPA V(T) relative to controls (F((1,26))= 1.74, p = 0.20). However, 2 ASD participants with higher V(T) had concurrent major depressive episodes (MDE), which has been consistently reported during MDE. After excluding those 2 ASD participants, in a post-hoc analysis, our results show lower [(18)F]FEPPA V(T) in ASD participants compared to controls (F((1,24))= 6.62, p = 0.02). This preliminary analysis provides evidence suggesting an atypical neuroimmune state in ASD.

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15. Supekar K, Ryali S, Yuan R, Kumar D, de Los Angeles C, Menon V. Robust, Generalizable, and Interpretable Artificial Intelligence-Derived Brain Fingerprints of Autism and Social Communication Symptom Severity. Biological psychiatry. 2022.

BACKGROUND: Autism spectrum disorder (ASD) is among the most pervasive neurodevelopmental disorders, yet the neurobiology of ASD is still poorly understood because inconsistent findings from underpowered individual studies preclude the identification of robust and interpretable neurobiological markers and predictors of clinical symptoms. METHODS: We leverage multiple brain imaging cohorts and exciting recent advances in explainable artificial intelligence to develop a novel spatiotemporal deep neural network (stDNN) model, which identifies robust and interpretable dynamic brain markers that distinguish ASD from neurotypical control subjects and predict clinical symptom severity. RESULTS: stDNN achieved consistently high classification accuracies in cross-validation analysis of data from the multisite ABIDE (Autism Brain Imaging Data Exchange) cohort (n = 834). Crucially, stDNN also accurately classified data from independent Stanford (n = 202) and GENDAAR (Gender Exploration of Neurogenetics and Development to Advanced Autism Research) (n = 90) cohorts without additional training. stDNN could not distinguish attention-deficit/hyperactivity disorder from neurotypical control subjects, highlighting the model’s specificity. Explainable artificial intelligence revealed that brain features associated with the posterior cingulate cortex and precuneus, dorsolateral and ventrolateral prefrontal cortex, and superior temporal sulcus, which anchor the default mode network, cognitive control, and human voice processing systems, respectively, most clearly distinguished ASD from neurotypical control subjects in the three cohorts. Furthermore, features associated with the posterior cingulate cortex and precuneus nodes of the default mode network emerged as robust predictors of the severity of core social and communication deficits but not restricted/repetitive behaviors in ASD. CONCLUSIONS: Our findings, replicated across independent cohorts, reveal robust individualized functional brain fingerprints of ASD psychopathology, which could lead to more objective and precise phenotypic characterization and targeted treatments.

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16. Villa CE, Cheroni C, Dotter CP, López-Tóbon A, Oliveira B, Sacco R, Yahya A, Morandell J, Gabriele M, Tavakoli MR, Lyudchik J, Sommer C, Gabitto M, Danzl JG, Testa G, Novarino G. CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. Cell reports. 2022; 39(1): 110615.

Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses macrocephaly, implicating cortical abnormalities, how CHD8 haploinsufficiency affects neurodevelopmental is unclear. Here, employing human cerebral organoids, we find that CHD8 haploinsufficiency disrupted neurodevelopmental trajectories with an accelerated and delayed generation of, respectively, inhibitory and excitatory neurons that yields, at days 60 and 120, symmetrically opposite expansions in their proportions. This imbalance is consistent with an enlargement of cerebral organoids as an in vitro correlate of patients’ macrocephaly. Through an isogenic design of patient-specific mutations and mosaic organoids, we define genotype-phenotype relationships and uncover their cell-autonomous nature. Our results define cell-type-specific CHD8-dependent molecular defects related to an abnormal program of proliferation and alternative splicing. By identifying cell-type-specific effects of CHD8 mutations, our study uncovers reproducible developmental alterations that may be employed for neurodevelopmental disease modeling.

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