1. Chenausky KV, Brignell A, Morgan AT, Norton AC, Tager-Flusberg HB, Schlaug G, Guenther FH. A Modeling-Guided Case Study of Disordered Speech in Minimally Verbal Children With Autism Spectrum Disorder. American journal of speech-language pathology. 2021; 30(3s): 1542-57.

Purpose Understanding what limits speech development in minimally verbal (MV) children with autism spectrum disorder (ASD) is important for providing highly effective targeted therapies. This preliminary investigation explores the extent to which developmental speech deficits predicted by Directions Into Velocities of Articulators (DIVA), a computational model of speech production, exemplify real phenotypes. Method Implementing a motor speech disorder in DIVA predicted that speech would become highly variable within and between tokens, while implementing a motor speech plus an auditory processing disorder predicted that DIVA’s speech would become highly centralized (schwa-like). Acoustic analyses of DIVA’s output predicted that acoustically measured phoneme distortion would be similar between the two cases, but that in the former case, speech would show more within- and between-token variability than in the latter case. We tested these predictions quantitatively on the speech of children with MV ASD. In Study 1, we tested the qualitative predictions using perceptual analysis methods. Speech pathologists blinded to the purpose of the study tallied the signs of childhood apraxia of speech that appeared in the speech of 38 MV children with ASD. K-means clustering was used to create two clusters from the group of 38, and analysis of variance was used to determine whether the clusters differed according to perceptual features corresponding to within- and between-token variability. In Study 2, we employed acoustic analyses on the speech of the child from each cluster who produced the largest number of analyzable tokens to test the predictions of differences in within-token variability, between-token variability, and vowel space area. Results Clusters produced by k-means analysis differed by perceptual features that corresponded to within-token variability. Nonsignificant differences between clusters were found for features corresponding to between-token variability. Subsequent acoustic analyses of the selected cases revealed that the speech of the child from the high-variability cluster showed significantly more quantitative within- and between-token variability than the speech of the child from the low-variability cluster. The vowel space of the child from the low-variability cluster was more centralized than that of typical children and that of the child from the high-variability cluster. Conclusions Results provide preliminary evidence that subphenotypes of children with MV ASD may exist, characterized by (a) comorbid motor speech disorder and (b) comorbid motor speech plus auditory processing disorder. The results motivate testable predictions about how these comorbidities affect speech. Supplemental Material https://doi.org/10.23641/asha.14384432.

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2. Ciaccio C, Leonardi E, Polli R, Murgia A, D’Arrigo S, Granocchio E, Chiapparini L, Pantaleoni C, Esposito S. A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Neuropediatrics. 2021; 52(6): 484-8.

KIRREL3 is a gene important for the central nervous system development-in particular for the process of neuronal migration, axonal fasciculation, and synaptogenesis-and colocalizes and cooperates in neurons with CASK gene. Alterations of KIRREL3 have been linked to neurodevelopmental disorders, ranging from developmental delay, to autism spectrum disorder, to attention deficit/hyperactivity disorder. The underlying mechanism is not yet fully understood, as it has been hypothesized a fully dominant effect, a risk factor role of KIRREL3 partially penetrating variants, and a recessive inheritance pattern. We report a novel and de novo KIRREL3 mutation in a child affected by severe neurodevelopmental disorder and with brain magnetic resonance imaging evidence of mega cisterna magna and mild cerebellar hypoplasia. This case strengthens the hypothesis that dominant KIRREL3 variants may lead to neurodevelopmental disruption; furthermore, given the strong interaction between KIRREL3 and CASK, we discuss as posterior fossa anomalies may also be part of the phenotype of KIRREL3-related syndrome.

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3. Coulter RA, Bade A, Jenewein EC, Tea YC, Mitchell GL. Near-point Findings in Children with Autism Spectrum Disorder and in Typical Peers. Optometry and vision science : official publication of the American Academy of Optometry. 2021; 98(4): 384-93.

SIGNIFICANCE: Clinicians can better diagnose and manage vision problems of autism spectrum disorder (ASD) children by establishing a standard of care for this population. Results also reinforce the importance of a comprehensive binocular vision evaluation in all patients with ASD. PURPOSE: The purposes of this study were to compare near-point and ocular motility test findings in ASD children and typically developing (TD) peers and to compare findings among ASD children by level of verbal communication. METHODS: Sixty-one children and adolescents (ASD, 34; TD, 27) aged 9 to 17 years completed an eye examination protocol including tests of distance and near phoria, near point of convergence, near fusional convergence and divergence, accommodative response, and Northeastern State University College of Optometry oculomotor testing. Testing was completed through refractive correction. Parents of ASD children provided information regarding subjects’ verbal communication level (nonverbal, uses short words, verbal). RESULTS: Distance phoria did not differ significantly between groups. Near phoria of ASD subjects was more exophoric (difference, 2.8 prism diopters). Mean near point of convergence break and recovery were 7.0 and 8.02 cm, respectively, in ASD subjects and 2.19 and 3.99 cm in TD subjects. Near fusional divergence and convergence showed no significant difference. Autism spectrum disorder subjects had significantly poorer stereoacuity (P < .0001) and, on Northeastern State University College of Optometry Oculomotor Testing, reduced fixation, poorer accuracy and stamina/ability, and increased head and body movement. Monocular estimation method retinoscopy results did not differ significantly between ASD and TD subjects. No significant differences in phoria, near point of convergence, and near fusional divergence or convergence were observed between ASD subgroups (nonverbal, uses short words, verbal). CONCLUSIONS: Autism spectrum disorder children are more likely to show receded near point of convergence, poor fixation, inaccurate saccades, erratic pursuits, and exophoric posture. These differences occur, regardless of reported verbal communication level.

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4. Dumbuya A, Comnick C, Xie XJ, Marchini L. Types of dental procedures provided to adults with autism spectrum condition: A descriptive study. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2021; 41(5): 553-8.

PURPOSE/AIM: To investigate demographic and systemic health characteristics, and the types of dental procedures performed for adults with autism that had sought care at a dental school. MATERIALS AND METHODS: De-identified data were collected from the records of patients aged 18+ who have self-reported autism. Each patient’s age, gender, BMI, mental health, heart disease, xerostomia, tobacco use, alcohol use, diabetes, use of drugs, seizures, and total number of medications, as well as the type and number of dental codes used in the care of that patient within each code category were included as variables. RESULTS: The sample was composed by 244 patients. Mean age was 29.8 years (±12.3), 64.8% were males, and mean BMI was 29.9 (±8.1). Mental health condition was reported by 79.9%, heart disease by 25.4%, xerostomia by 21.7%, 20.9% reported using tobacco, 18.9% reported using alcohol, 14.8% reported having diabetes, 10.2% reported using drugs, and 3.7% reported having seizures. The median number of dental procedures per patient was nine, and exams, preventive, operative, and surgical procedures were the most common ones. CONCLUSIONS: Adult patients with autism were overweight/obese young males. Most common dental procedures were exams, followed by preventive, operative, and surgical procedures.

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5. Fang H, Ye X, Xie J, Li Y, Li H, Bao X, Yang Y, Lin Z, Jia M, Han Q, Zhu J, Li X, Zhao Q, Yang Y, Lyu J. A membrane arm of mitochondrial complex I sufficient to promote respirasome formation. Cell reports. 2021; 35(2): 108963.

The assembly pathways of mitochondrial respirasome (supercomplex I+III(2)+IV) are not fully understood. Here, we show that an early sub-complex I assembly, rather than holo-complex I, is sufficient to initiate mitochondrial respirasome assembly. We find that a distal part of the membrane arm of complex I (P(D)-a module) is a scaffold for the incorporation of complexes III and IV to form a respirasome subcomplex. Depletion of P(D)-a, rather than other complex I modules, decreases the steady-state levels of complexes III and IV. Both HEK293T cells lacking TIMMDC1 and patient-derived cells with disease-causing mutations in TIMMDC1 showed accumulation of this respirasome subcomplex. This suggests that TIMMDC1, previously known as a complex-I assembly factor, may function as a respirasome assembly factor. Collectively, we provide a detailed, cooperative assembly model in which most complex-I subunits are added to the respirasome subcomplex in the lateral stages of respirasome assembly.

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6. Fortunato A, Giovanardi G, Innocenzi E, Mirabella M, Caviglia G, Lingiardi V, Speranza AM. Is It Autism? A Critical Commentary on the Co-Occurrence of Gender Dysphoria and Autism Spectrum Disorder. Journal of homosexuality. 2022; 69(7): 1204-21.

An increasing amount of literature revealed a link between GD and ASD. Both GD and ASD are complex and heterogeneous conditions characterized by a large variety of presentations. Studies have reported that individuals with GD tend to have higher prevalence rates of autistic traits in comparison to the general population. The purpose of this commentary is to provide, through the description of a clinical case, our reading and a possible interpretation of the correlation of these two conditions in light of the several methodological limitations found in literature. We hypothesize that the traits often classified as autistic could be more accurately related to the distress and discomfort evoked by GD. The autistic traits of individuals with GD as forms of psychological defenses and coping mechanisms aimed at dealing with socio-relational and identity problems are discussed.

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7. Keifer CM, Day TC, Hauschild KM, Lerner MD. Social and Nonsocial Reward Anticipation in Typical Development and Autism Spectrum Disorders: Current Status and Future Directions. Current psychiatry reports. 2021; 23(6): 32.

PURPOSE OF REVIEW: While there has been sustained interest in understanding the role of reward processing in autism spectrum disorder (ASD), researchers are just beginning to focus on the anticipation phase of reward processing in this population. This review aimed to briefly summarize recent advancements in functional imaging studies of anticipatory social and nonsocial reward processing in individuals with and without ASD and provide suggestions for avenues of future research. RECENT FINDINGS: Reward salience and activation of the complex network of brain regions supporting reward anticipation vary across development and by important demographic characteristics, such as sex assigned at birth. Current research comparing social and nonsocial reward anticipation may possess confounds related to the mismatch in tangibility and salience of social and nonsocial experimental stimuli. Growing evidence suggests individuals with ASD demonstrate aberrant generalized reward anticipation that is not specific to social reward. Future research should carefully match social and nonsocial reward stimuli and consider employing a longitudinal design to disentangle the complex processes contributing to the development of reward anticipation. It may be useful to conceptualize differences in reward anticipation as a transdiagnostic factor, rather than an ASD-specific deficit.

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8. Klila H, Giuliani F. [Autism spectrum disorder in verbal adults without intellectual disabilities (Asperger syndrome)]. Revue medicale suisse. 2021; 17(734): 751-3.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder associating persistent communication and social interaction deficits with behaviors, interests or activities of a restricted and repetitive nature. The etiology of ASD is not yet fully understood but appears to be multifactorial, including both genetic and environmental factors. The concept of autism underwent a major evolution before arriving at the current definition in DSM-5. The diagnosis has two parts: a categorical from cut-off and differential diagnosis established from a specification of the category by dimensional variables (intelligence, language, associated diseases, adaptation). These two parts (categorical diagnosis and specifiers) are complementary but pose a certain number of practical problems in establishing the diagnosis in adulthood.

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9. Konke LA, Forslund T, Nilsson-Jobs E, Nyström P, Falck-Ytter T, Brocki K. How Does Temperament in Toddlers at Elevated Likelihood for Autism Relate to Symptoms of Autism and ADHD at Three Years of Age?. Journal of autism and developmental disorders. 2022; 52(3): 995-1006.

The current study investigated longitudinal associations between parent-rated temperament, observed exuberance and accelerometer activity level at 18-months and symptoms of ASD and ADHD at 36-months in a sample of 54 children at elevated likelihood for ASD. For the specific parent-rated temperament scales, most observed significant associations appeared to be specific for either ASD or ADHD symptoms. Indeed, by controlling for overlapping symptoms a different pattern of associations emerged. These results illustrate how temperamental measures may signal risk for later ASD versus ADHD symptomatology in infants at elevated likelihood for ASD. In addition, they indicate the potential of adopting a broader view on neurodevelopmental disorders by investigating not only ASD traits, but also co-occurring disorders such as ADHD in samples of elevated likelihood for ASD.

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10. Matos MB, Bara TS, Felden É PG, Cordeiro ML. Potential Risk Factors for Autism in Children Requiring Neonatal Intensive Care Unit. Neuropediatrics. 2021; 52(4): 284-93.

BACKGROUND: The etiology of autism spectrum disorder (ASD) is complex and involves the interplay of genetic and environmental factors. AIM: We sought to identify potential prenatal, perinatal, and neonatal risk factors for ASD in a unique population of children who had perinatal complications and required care in a neonatal intensive care unit (NICU). METHODS: This prospective cohort study included 73 patients discharged from a NICU who received long-term follow-up at the largest children’s hospital in Brazil. Potential risk factors were compared between 44 children with a diagnosis of ASD and 29 children without using the Mann-Whitney U test. Proportions were analyzed using the chi-square test. Simple and multiple logistic regression tests were performed. RESULTS: Of 38 factors analyzed, the following 7 were associated with ASD: family history of neuropsychiatric disorders (p = 0.049); maternal psychological distress during pregnancy (p = 0.007); ≥ 26 days in the NICU (p = 0.001); feeding tube for ≥ 15 days (p = 0.014); retinopathy of prematurity (p = 0.022); use of three or more antibiotics (p = 0.008); and co-sleeping until up to 2 years of age (p = 0.004). CONCLUSION: This study found associations between specific risk factors during critical neurodevelopmental periods and a subsequent diagnosis of ASD. Knowledge of the etiologic factors that may influence the development for ASD is paramount for the development of intervention strategies and improvement of prognoses.

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11. Ozgur BG, Eser E. Adaptation of the knowledge about childhood autism among health workers questionnaire aimed for usage in Turkey. Northern clinics of Istanbul. 2021; 8(2): 199-200.

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12. Park BY, Hong SJ, Valk SL, Paquola C, Benkarim O, Bethlehem RAI, Di Martino A, Milham MP, Gozzi A, Yeo BTT, Smallwood J, Bernhardt BC. Differences in subcortico-cortical interactions identified from connectome and microcircuit models in autism. Nature communications. 2021; 12(1): 2225.

The pathophysiology of autism has been suggested to involve a combination of both macroscale connectome miswiring and microcircuit anomalies. Here, we combine connectome-wide manifold learning with biophysical simulation models to understand associations between global network perturbations and microcircuit dysfunctions in autism. We studied neuroimaging and phenotypic data in 47 individuals with autism and 37 typically developing controls obtained from the Autism Brain Imaging Data Exchange initiative. Our analysis establishes significant differences in structural connectome organization in individuals with autism relative to controls, with strong between-group effects in low-level somatosensory regions and moderate effects in high-level association cortices. Computational models reveal that the degree of macroscale anomalies is related to atypical increases of recurrent excitation/inhibition, as well as subcortical inputs into cortical microcircuits, especially in sensory and motor areas. Transcriptomic association analysis based on postmortem datasets identifies genes expressed in cortical and thalamic areas from childhood to young adulthood. Finally, supervised machine learning finds that the macroscale perturbations are associated with symptom severity scores on the Autism Diagnostic Observation Schedule. Together, our analyses suggest that atypical subcortico-cortical interactions are associated with both microcircuit and macroscale connectome differences in autism.

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13. Raj N, McEachin ZT, Harousseau W, Zhou Y, Zhang F, Merritt-Garza ME, Taliaferro JM, Kalinowska M, Marro SG, Hales CM, Berry-Kravis E, Wolf-Ochoa MW, Martinez-Cerdeño V, Wernig M, Chen L, Klann E, Warren ST, Jin P, Wen Z, Bassell GJ. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell reports. 2021; 35(2): 108991.

Transcriptional silencing of the FMR1 gene in fragile X syndrome (FXS) leads to the loss of the RNA-binding protein FMRP. In addition to regulating mRNA translation and protein synthesis, emerging evidence suggests that FMRP acts to coordinate proliferation and differentiation during early neural development. However, whether loss of FMRP-mediated translational control is related to impaired cell fate specification in the developing human brain remains unknown. Here, we use human patient induced pluripotent stem cell (iPSC)-derived neural progenitor cells and organoids to model neurogenesis in FXS. We developed a high-throughput, in vitro assay that allows for the simultaneous quantification of protein synthesis and proliferation within defined neural subpopulations. We demonstrate that abnormal protein synthesis in FXS is coupled to altered cellular decisions to favor proliferative over neurogenic cell fates during early development. Furthermore, pharmacologic inhibition of elevated phosphoinositide 3-kinase (PI3K) signaling corrects both excess protein synthesis and cell proliferation in a subset of patient neural cells.

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14. Soroor G, Mokhtari S, Pouretemad H. Priming Global Processing Strategy Improves the Perceptual Performance of Children with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2022; 52(3): 1019-29.

We investigated (1) if the perceptual integration performance is different in children with ASD in comparison with their typically developed (TD) counterparts; and (2) if activating- priming- the global processing strategy, could benefit the integration performance of children with ASD in the subsequent task. We observed that in comparison with the TD group, children with ASD had lower performance in an information integration task that required identification of illusory shapes. Additionally, we observed that priming the global processing strategy increased the correct identification of the illusory shapes in the subsequent task. We suggested that studies on priming effect shed light on the different aspects of perceptual properties of ASD, and could also be used in developing new rehabilitation plans.

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15. Yuan YQ, Liu Y, Wang MJ, Hou X, Zhang SH, Wang XL, Han YN, Sang P, Bian Y, Roswal G. Prevalence of overweight and obesity in children and adolescents with intellectual disabilities in China. Journal of intellectual disability research : JIDR. 2021; 65(7): 655-65.

BACKGROUND: Overweight and obesity in children and adolescents has become a worldwide epidemic. There are several studies that have concentrated on the prevalence rate of children and adolescents with intellectual disabilities (ID), whereas data on such a population on the mainland of China remain unclear. The purpose of this study was to investigate the prevalence rate of overweight and obesity among school-aged children and adolescents with ID on China’s mainland. METHODS: This study employed a cross-sectional design to examine the body weight status of 1873 children and adolescents (ages 6-18 years old) with ID in 35 special education schools. Body mass index was calculated, and the concepts of overweight and obesity were defined according to the standard of the Working Group for Obesity in China. RESULTS: Data indicated that 18.2% (95% CI: 16.5%-20.0%) of children and adolescents with ID were overweight and 14.4% (95% CI: 12.8%-16.0%) were obese. Boys with ID were more likely to be overweight than girls with ID (OR = 1.48[95% CI: 1.13-1.94], P < 0.05). Children and adolescents with Down syndrome or autism spectrum disorder had a trend to be classified as overweight (OR = 1.76[95% CI: 1.22-2.54], P < 0.05; OR = 1.57[95% CI: 1.17-2.09], P < 0.05, respectively) or obesity (OR = 1.82[95% CI: 1.23-2.69], P < 0.05; OR = 1.40 [95% CI: 1.02-1.93], P < 0.05, respectively) compared with those with ID without these conditions. Moreover, children and teenagers with ID living in urban areas had a predisposition to be overweight (OR = 2.16[95% CI: 1.14-4.09], P < 0.05) or obese (OR = 3.25[95% CI: 1.41-7.50], P < 0.05) relative to those who lived in rural areas. CONCLUSION: Results indicated that in China, the prevalence rate of overweight and obesity among school-aged children and adolescents with ID was remarkably high. Therefore, future research should make every effort to focus on reducing and preventing overweight and obesity of this population in China.

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16. Zheng S, Taylor JL, Adams R, Pezzimenti F, Bishop SL. Perceived helpfulness of depression treatments among young adults with autism. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1522-8.

Currently available treatments for depression show limited effectiveness in adults with autism spectrum disorders (ASD) based on measures of symptom changes and clinician impressions. Perceived helpfulness is another metric that has been found to be useful for understanding treatment outcomes in the general population, but it has not yet been explored in adults with ASD. Thus, the current study collected online survey data to examine patient-perceived treatment helpfulness in a sample of 144 adults with ASD who reported that they were currently receiving community-based treatment for depression. Findings indicate that while there was variability in the levels of perceived helpfulness for both medication and individual therapy, most adults with ASD perceived treatment to be at least moderately helpful. Notably, adults with ASD reported having been in treatment for a prolonged duration (5 to 6 years). Ordinal logistic regression models showed that adults with more depressive symptoms perceived treatments to be less helpful (i.e., medications: odds ratio [OR] = 0.92, 95% confidence interval[CI] = 0.89-0.95; individual therapy: OR = 0.95, 95% CI = 0.92-0.99). Moreover, women perceived medication as more helpful than men (OR = 2.33, 95% CI = 1.13-4.82). Other individual (i.e., age, race, education level) and treatment (i.e., treatment length, concurrent treatment) characteristics were not significantly associated with perceived helpfulness. These findings suggest that future studies may want to use perceived helpfulness, in addition to traditionally used objective outcomes, to understand patients’ treatment experience and evaluate depression treatments for adults with ASD. LAY SUMMARY: Adults with autism are much more likely to be depressed than those without autism; therefore, effective depression treatments are necessary to improve mental health outcomes in this group. This online survey study found that most adults with autism felt that the depression treatments they were receiving in the community (i.e., medication and individual therapy) were helpful. Females and those with fewer symptoms of depression felt treatments were more helpful compared with males and those with more symptoms of depression. Our findings suggest that when examining whether treatments for depression are effective, it may be important to measure adults’ feelings about the helpfulness of the treatments in addition to measuring changes in symptoms of depression.

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