1. Di Fede E, Peron A, Colombo EA, Gervasini C, Vignoli A. SLC35F1 as a candidate gene for neurodevelopmental disorders resembling Rett syndrome. American journal of medical genetics Part A. 2021; 185(7): 2238-40.

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2. Haegele JA, Zhu X, Bennett HJ. Accelerometer measured physical activity among youth with autism and age, sex, and body mass index matched peers: A preliminary study. Disability and health journal. 2021; 14(3): 101102.

BACKGROUND: While research has examined physical activity differences between youth with autism spectrum disorder (ASD) and neurotypical peers, they largely do not consider demographic or anthropomorphic variables when recruiting comparison group participants. OBJECTIVE: The purpose of this preliminary study was to compare light physical activity (LPA) and moderate-to-vigorous physical activity (MVPA) between youth with ASD and age, sex, and body mass index (BMI) matched neurotypical peers from the same geographic region. METHOD: A sample of 36 participants, including youth aged 13-17 with ASD and age, sex, and BMI-matched neurotypical youth recruited from the same geographic location. Demographic information was obtained via parent report, and physical activity was measured using the ActiGraph GT3x accelerometer. Participants wore monitors for seven consecutive days during waking hours. Descriptive analyses were conducted for participant demographics, LPA, and MVPA, and paired-sample t-tests were employed to examine differences in LPA and MVPA between youth with ASD and age, sex, and BMI-matched neurotypical peers. RESULTS: Youth with ASD and their age, BMI, and sex matched neurotypical peers demonstrated no significant difference in average daily LPA (201.36 ± 63.50 v. 172.30 ± 54.98) or MVPA (33.54 ± 17.07 v. 37.63 ± 19.94). CONCLUSIONS: Results indicate that youth with ASD did not engage in significantly less MVPA than age, sex, and BMI-matched peers from the same geographic location. Not finding clear distinctions between youth with ASD and neurotypical peers in this study suggest that variability in other social or environmental factors may play a larger role in influencing MVPA than ASD itself.

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3. Koegel LK, Koplen Z, Koegel B, Koegel RL. Using a Question Bank Intervention to Improve Socially Initiated Questions in Adolescents and Adults With Autism. Journal of speech, language, and hearing research : JSLHR. 2021; 64(4): 1331-9.

Purpose Individuals with autism spectrum disorder (ASD) often have difficulty asking questions during social conversation, which can negatively impact their interactions with peers. The purpose of this study was to assess whether a question bank intervention would be effective in improving question asking during social conversation. Method In the context of a multiple-baseline experimental design, we implemented an intervention using prepractice with question banks designed to increase the number and diversity of questions asked by adolescents and adults with ASD during social conversations with their peers. Results Following intervention, all participants improved their use of questions in natural settings with their neurotypical peers. Generalization to novel questions occurred, and gains were maintained at follow-up. Finally, supplemental measures of social validity showed that similarly aged neurotypical peers who were naïve to the experimental hypothesis rated two of the three participants with higher social desirability following intervention. Conclusion Individuals with ASD can improve their appropriate question asking during social conversation using a brief question bank intervention with generalization to their peers in natural settings.

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4. Menzies C, Naz S, Patten D, Alquier T, Bennett BM, Lacoste B. Distinct Basal Metabolism in Three Mouse Models of Neurodevelopmental Disorders. eNeuro. 2021; 8(2).

Prevalence of metabolic disturbances is higher among individuals with neurodevelopmental disorders (NDDs), yet this association has been largely overlooked. Investigation into human disease remains challenging, as a complete pathophysiological understanding relies on accurate modeling and highly controlled variables. Genetically engineered mouse models are widely used to gain insight into the biology of human NDDs, but research focus has been on behavioral and neurophysiological abnormalities. Such models not only allow for evaluating usefulness in reproducing human features, including similarities and discrepancies with rodent phenotypes, but they also represent a unique opportunity to observe and quantify novel anomalies. Here, we present the first characterization and comparison of basal metabolism in three mouse models of NDDs, namely, Down syndrome (DS; Dp(16)Yey/+ mice), 16p11.2 deletion syndrome (16pDel; 16p11.2(df/+) mice), and fragile X syndrome [FXS; Fmr1 knock-out (KO) mice] and their wild-type (WT) counterparts. Using the Comprehensive Lab Animal Monitoring System (CLAMS) coupled to EchoMRI, as well as quantification of key plasma metabolites by liquid chromatography mass spectrometry (LC-MS), our in vivo study reveals that each mouse model expresses a unique metabolic signature that is sex-specific, independent of the amount of food consumed and minimally influenced by physical activity. In particular, we identify striking differences in body composition, respiratory exchange ratio (RER), caloric expenditure (CE), and concentrations of circulating plasma metabolites related to mitochondrial function. Providing novel insight into NDD-associated metabolic alterations is an essential prerequisite for future preclinical and clinical interventions.

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5. Nicotera AG, Dicanio D, Pironti E, Bonsignore M, Cafeo A, Efthymiou S, Mondello P, Salpietro V, Houlden H, Di Rosa G. De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype. Journal of neurogenetics. 2021; 35(2): 67-73.

The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H(+) symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis.

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6. Pacia C, Holloway J, Gunning C, Lee H. A Systematic Review of Family-Mediated Social Communication Interventions for Young Children with Autism. Review journal of autism and developmental disorders. 2021: 1-27.

Social communication deficits are a core symptom of autism spectrum disorder (ASD). The present paper reviews 54 studies evaluating social communication interventions delivered by parents and siblings to children with ASD under 6 years old. Fifty studies evaluated parent-mediated intervention, and four studies evaluated sibling-mediated intervention. Fourteen studies evaluated interventions using telehealth. Treatment effects and research strength were variable across studies. Treatment modality, setting, and dosage had inconclusive impact on treatment effect. Parent-implemented intervention packages, Pivotal Response Treatment (PRT), Early Start Denver Model (ESDM), and Joint Attention, Symbolic Play, Engagement & Regulation (JASPER), qualified as established evidence-based practice for this population. Most studies reported successful generalization of skills for some, but not all, children. Telehealth and sibling-mediated intervention are promising areas of further research and clinical practice.

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7. Tang CH, Chi MH, Hsieh YT, Lee TI, Tai YC, Lien YJ, Yang YK, Chen PS. Sex differences in the diagnosis of autism spectrum disorder and effects of comorbid mental retardation and attention-deficit hyperactivity disorder. Journal of the Formosan Medical Association = Taiwan yi zhi. 2022; 121(1 Pt 1): 210-7.

BACKGROUND/PURPOSE: The association between sex and diagnostic behavior of autism spectrum disorder (ASD), and the effects of comorbid mental retardation (MR) and attention-deficit hyperactivity disorder (ADHD), were explored. METHODS: Based on the Taiwan Longitudinal Health Insurance Database (LHID)-2000 and data from 1996 through 2008, the cumulative incidence of ASD over time was compared between the sexes (both cohorts n = 38,117) using the log-rank test. The effects of comorbid MR and ADHD on the incidence of ASD were evaluated using Cox proportional hazard regression analysis. The age at first diagnosis of ASD in the two sexes was compared using the independent-sample t-test. RESULTS: The incidence was higher in males than in females (0.0007 vs. 0.0002) across ages. Comorbid MR or ADHD increased the incidence of ASD in both sexes; comorbid MR or ADHD also decreased the male to female hazard ratio of ASD, with no significant differences in the incidence density of ASD between sexes. ADHD delayed diagnosis in both sexes (males: 6.61 vs 5.10, p < 0.0001; females: 6.83 vs 4.69, p = 0.0037). CONCLUSION: The general concept of a higher incidence of ASD among males was noted in this study of a Taiwanese population, but disappeared in those with comorbid MR or ADHD, indicating unique vulnerabilities to MR/ADHD or under-identification of high-functioning females with ASD in childhood. Increasing the diagnostic sensitivity of ASD in those with comorbid ADHD is important due to a delayed diagnostic age in this group.

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8. van der Heijden ME, Gill JS, Sillitoe RV. Abnormal Cerebellar Development in Autism Spectrum Disorders. Developmental neuroscience. 2021; 43(3-4): 181-90.

Autism spectrum disorders (ASD) comprise a group of heterogeneous neurodevelopmental conditions characterized by impaired social interactions and repetitive behaviors with symptom onset in early infancy. The genetic risks for ASD have long been appreciated: concordance of ASD diagnosis may be as high as 90% for monozygotic twins and 30% for dizygotic twins, and hundreds of mutations in single genes have been associated with ASD. Nevertheless, only 5-30% of ASD cases can be explained by a known genetic cause, suggesting that genetics is not the only factor at play. More recently, several studies reported that up to 40% of infants with cerebellar hemorrhages and lesions are diagnosed with ASD. These hemorrhages are overrepresented in severely premature infants, who are born during a period of highly dynamic cerebellar development that encompasses an approximately 5-fold size expansion, an increase in structural complexity, and remarkable rearrangements of local neural circuits. The incidence of ASD-causing cerebellar hemorrhages during this window supports the hypothesis that abnormal cerebellar development may be a primary risk factor for ASD. However, the links between developmental deficits in the cerebellum and the neurological dysfunctions underlying ASD are not completely understood. Here, we discuss key processes in cerebellar development, what happens to the cerebellar circuit when development is interrupted, and how impaired cerebellar function leads to social and cognitive impairments. We explore a central question: Is cerebellar development important for the generation of the social and cognitive brain or is the cerebellum part of the social and cognitive brain itself?

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9. Vieira MM, Jeong J, Roche KW. The role of NMDA receptor and neuroligin rare variants in synaptic dysfunction underlying neurodevelopmental disorders. Current opinion in neurobiology. 2021; 69: 93-104.

Many genes encoding synaptic proteins are associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorders (ASDs), intellectual disability (ID), and epilepsy. Here we review recent studies on the synaptic effects of disease-associated rare variants identified in two families of synaptic proteins: NMDA receptors (NMDARs) and the postsynaptic adhesion molecules neuroligins (NLGNs). Many NMDAR subunit genes (GRINs) are highly intolerant to variation, and both gain-of-function (GOF) and loss-of-function (LOF) variants are implicated in disease. NLGN genes are also associated with ASDs, and in some cases, contribute to the male bias identified in these patients. Understanding the molecular basis of synaptic dysfunction of rare variants in these genes will help the design of new therapeutic approaches.

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