1. Abdelrahman MA. Re: Respectful language in autism research: In response to Abdelrahman et al. ‘Exploration of radiographers’ knowledge, attitudes, and practices in delivering healthcare to children with autism spectrum disorder’. Radiography (Lond);2024 (Feb 26);30(2):704-705.

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2. Aydin E, Tsompanidis A, Chaplin D, Hawkes R, Allison C, Hackett G, Austin T, Padaigaitė E, Gabis LV, Sucking J, Holt R, Baron-Cohen S. Fetal brain growth and infant autistic traits. Mol Autism;2024 (Feb 28);15(1):11.

BACKGROUND: Structural differences exist in the brains of autistic individuals. To date only a few studies have explored the relationship between fetal brain growth and later infant autistic traits, and some have used fetal head circumference (HC) as a proxy for brain development. These findings have been inconsistent. Here we investigate whether fetal subregional brain measurements correlate with autistic traits in toddlers. METHODS: A total of 219 singleton pregnancies (104 males and 115 females) were recruited at the Rosie Hospital, Cambridge, UK. 2D ultrasound was performed at 12-, 20- and between 26 and 30 weeks of pregnancy, measuring head circumference (HC), ventricular atrium (VA) and transcerebellar diameter (TCD). A total of 179 infants were followed up at 18-20 months of age and completed the quantitative checklist for autism in toddlers (Q-CHAT) to measure autistic traits. RESULTS: Q-CHAT scores at 18-20 months of age were positively associated with TCD size at 20 weeks and with HC at 28 weeks, in univariate analyses, and in multiple regression models which controlled for sex, maternal age and birth weight. LIMITATIONS: Due to the nature and location of the study, ascertainment bias could also have contributed to the recruitment of volunteer mothers with a higher than typical range of autistic traits and/or with a significant interest in the neurodevelopment of their children. CONCLUSION: Prenatal brain growth is associated with toddler autistic traits and this can be ascertained via ultrasound starting at 20 weeks gestation.

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3. Basson MA. Neurodevelopmental functions of CHD8: new insights and questions. Biochem Soc Trans;2024 (Feb 28);52(1):15-27.

Heterozygous, de novo, loss-of-function variants of the CHD8 gene are associated with a high penetrance of autism and other neurodevelopmental phenotypes. Identifying the neurodevelopmental functions of high-confidence autism risk genes like CHD8 may improve our understanding of the neurodevelopmental mechanisms that underlie autism spectrum disorders. Over the last decade, a complex picture of pleiotropic CHD8 functions and mechanisms of action has emerged. Multiple brain and non-brain cell types and progenitors appear to be affected by CHD8 haploinsufficiency. Behavioural, cellular and synaptic phenotypes are dependent on the nature of the gene mutation and are modified by sex and genetic background. Here, I review some of the CHD8-interacting proteins and molecular mechanisms identified to date, as well as the impacts of CHD8 deficiency on cellular processes relevant to neurodevelopment. I endeavour to highlight some of the critical questions that still require careful and concerted attention over the next decade to bring us closer to the goal of understanding the salient mechanisms whereby CHD8 deficiency causes neurodevelopmental disorders.

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4. Chen HD, Li L, Yu F, Sam Ma Z. A comprehensive diversity analysis on the gut microbiomes of ASD patients: from alpha, beta to gamma diversities. FEMS Microbiol Lett;2024 (Feb 28)

Autism spectrum disorder (ASD) is estimated to influence as many as 1% children worldwide, but its etiology is still unclear. It has been suggested that gut microbiomes play an important role in regulating abnormal behaviors associated with ASD. A de facto standard analysis on the microbiome-associated diseases has been diversity analysis, and nevertheless, existing studies on ASD-microbiome relationship have not produced a consensus. Here, we perform a comprehensive analysis of the diversity changes associated with ASD involving alpha-, beta-, and gamma-diversity metrics, based on 8 published datasets consisting of 898 ASD samples and 467 healthy controls (HC) from 16S-rRNA sequencing. Our findings include: (i) In terms of alpha-diversity, in approximately 1/3 of the studies cases, ASD patients exhibited significantly higher alpha-diversity than the HC, which seems to be consistent with the « 1/3 conjecture » of diversity-disease relationship (DDR). (ii) In terms of beta-diversity, the AKP (Anna Karenina principle) that predict all healthy microbiomes should be similar, and every diseased microbiome should be dissimilar in its own way seems to be true in approximately 1/2 to 3/4 studies cases. (iii) In terms of gamma-diversity, the DAR (diversity-area relationship) modeling suggests that ASD patients seem to have large diversity-area scaling parameter than the HC, which is consistent with the AKP results. However, the MAD (maximum accrual diversity) and RIP (ratio of individual to population diversity) parameters did not suggest significant differences between ASD patients and HC. Throughout the study, we adopted Hill numbers to measure diversity, which stratified the diversity measures in terms of the rarity-commonness-dominance spectrum. It appears that the differences between ASD patients and HC are more propounding on rare-species side than on dominant-species side. Finally, we discuss the apparent inconsistent diversity-ASD relationships among different case studies and postulate that the relationships are not monotonic.

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5. Davy G, Barbaro J, Unwin K, Clark M, Jellett R, Date P, Muniandy M, Dissanayake C. Leisure, community, workforce participation and quality of life in primary and secondary caregivers of autistic children. Autism Res;2024 (Feb 27)

Parents of Autistic children often modify their participation in leisure, social, and employment activities to meet the caregiving needs of their child. However, few studies have examined the impact this has on caregiver quality of life (QoL). The aim in the current study was to examine the role of participation in a range of activities on QoL amongst primary and secondary caregivers of school-aged Autistic children. Eighty-eight primary (93% mothers) and 63 secondary (91% fathers) caregivers of Autistic children (aged 7- to 12-years) participated in this cross-sectional study, with time pressure, participation, social support, parenting stress, and QoL measured via an online questionnaire. Compared to secondary caregivers, primary caregivers reported fewer employment hours, increased time pressure, less participation in desired activities, and higher perceived responsibility of domestic and child-rearing tasks. Similar levels of leisure frequency, parenting stress, and QoL were identified by both caregivers. Hierarchical regression revealed caregiver participation as important for QoL in both primary and secondary caregivers. However, when measures of caregiver well-being were added to the model, the unique contribution of participation to QoL was reduced, particularly for secondary caregivers. Overall, the findings demonstrate that despite differences in caregiver roles and responsibilities, participation in meaningful activities was important for QoL in all caregivers.

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6. de Hoyos L, Barendse MT, Schlag F, van Donkelaar MMJ, Verhoef E, Shapland CY, Klassmann A, Buitelaar J, Verhulst B, Fisher SE, Rai D, St Pourcain B. Structural models of genome-wide covariance identify multiple common dimensions in autism. Nat Commun;2024 (Feb 27);15(1):1770.

Common genetic variation has been associated with multiple phenotypic features in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous phenotypic spectrum is limited. Here, we developed and implemented a structural equation modelling framework to directly model genomic covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent with a case-only design. We identified three independent genetic factors most strongly linked to language performance, behaviour and developmental motor delay, respectively, studying an autism community sample (N = 5331). The three-factorial structure was largely confirmed in independent ASD-simplex families (N = 1946), although we uncovered, in addition, simplex-specific genetic overlap between behaviour and language phenotypes. Multivariate models across cohorts revealed novel associations, including links between language and early mastering of self-feeding. Thus, the common genetic architecture in ASD is multi-dimensional with overarching genetic factors contributing, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.

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7. De Leeuw S, Delens G, Vanden Brande L, Henrion E, Legros L. Socio-familial environment influence on cognitive and language development in very preterm children. Child Care Health Dev;2024 (Mar);50(2):e13239.

BACKGROUND: Preterm children are at increased risk of cognitive and language delay compared with term-born children. While many perinatal factors associated with prematurity are well established, there is limited research concerning the influence of the socio-familial environment on the development of preterm children. This study aims to assess the relative impact of perinatal and socio-familial risk factors on cognitive and language development at 2 years corrected age (CA). METHOD: This retrospective cross-sectional study included preterm infants with a gestational age <32 weeks and/or a birth weight <1500 g, who underwent neurodevelopmental assessment at 2 years CA. Cognitive and language scores were assessed using the Bayley Scales of Infant-Toddler Development, third edition. Adjusted odds ratios (aORs) with 95% confidence intervals (CIs) were calculated using a multivariable model to examine the relationship between developmental delays and perinatal and socio-familial factors. RESULT: The prevalence of language delay was negatively associated with daycare attendance (aOR: 0.25, 95% CI: 0.07-0.85, p < 0.05) and high maternal educational levels (aOR: 0.24, 95% CI: 0.05-0.93, p < 0.05) and positively associated with bilingual environments (aOR: 5.62, 95% CI: 1.46-24.3, p < 0.05). Perinatal and postnatal risk factors did not show a significant impact on cognitive or language development. CONCLUSION: The development of language appears to be more influenced by the socio-familial environment than by early perinatal and postnatal factors associated with prematurity. These findings highlight the importance of considering socio-familial factors in the early identification and intervention of language delay among preterm children.

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8. Furnier SM, Gangnon R, Daniels JL, Ellis Weismer S, Nadler C, Pazol K, Reyes NM, Rosenberg S, Rubenstein E, Wiggins LD, Yeargin-Allsopp M, Durkin MS. Racial and ethnic disparities in the co-occurrence of intellectual disability and autism: Impact of incorporating measures of adaptive functioning. Autism Res;2024 (Feb 28)

Intellectual disability (ID) commonly co-occurs in children with autism. Although diagnostic criteria for ID require impairments in both cognitive and adaptive functioning, most population-based estimates of the frequency of co-occurring ID in children with autism-including studies of racial and ethnic disparities in co-occurring autism and ID-base the definition of ID solely on cognitive scores. The goal of this analysis was to examine the effect of including both cognitive and adaptive behavior criteria on estimates of co-occurring ID in a well-characterized sample of 2- to 5-year-old children with autism. Participants included 3264 children with research or community diagnoses of autism enrolled in the population-based Study to Explore Early Development (SEED) phases 1-3. Based only on Mullen Scales of Early Learning (MSEL) composite cognitive scores, 62.9% (95% confidence interval [CI]: 61.1, 64.7%) of children with autism were estimated to have co-occurring ID. After incorporating Vineland Adaptive Behavior Scales, Second Edition (VABS-II) composite or domains criteria, co-occurring ID estimates were reduced to 38.0% (95% CI: 36.2, 39.8%) and 45.0% (95% CI: 43.1, 46.9%), respectively. The increased odds of meeting ID criteria observed for non-Hispanic (NH) Black and Hispanic children relative to NH White children when only MSEL criteria were used were substantially reduced, though not eliminated, after incorporating VABS-II criteria and adjusting for selected socioeconomic variables. This study provides evidence for the importance of considering adaptive behavior as well as socioeconomic disadvantage when describing racial and ethnic disparities in co-occurring ID in epidemiologic studies of autism.

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9. Hasson Y, Alqaisi DA. « My kid has autism »: An interesting conversation with ChatGPT. Spec Care Dentist;2024 (Feb 28)

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10. Kim H, Karakaya MF, Skinner M, Baker D. A Systematic Literature Review of Racial Disproportionality in Autism in the U.S. J Autism Dev Disord;2024 (Feb 28)

In recent years, the Autism and Developmental Disabilities Monitoring Network has observed a shift in racial disparities in autism. To delineate the historical shift of racial disproportionality in US autism prevalence, our literature review examines three key topics: publication trends concerning racial disproportionality in autism, discernible national and state-level patterns, and underlying factors contributing to the disproportionality. Using the PRISMA framework, we synthesized 24 empirical studies on racial disproportionality in autism and its change over time. These studies explored national patterns and spatiotemporal variations to provide a comprehensive understanding of racial disparities in autism. Studies indicated similar national patterns for Black and Asian racial groups; both groups had had mixed results around the turn of the millennium. By 2007, the Asian group was overrepresented again. Hispanic and Native American groups have consistently been underrepresented. However, significant spatiotemporal variations were found, suggesting that these disparities might reflect inherent inequalities within the current identification and classification system. The patterns of racial disproportionality in autism seem to be influenced by numerous factors. These include varying state definitions of autism, disparities in resource distribution, differences in symptom recognition across cultures, service preferences, cultural mismatches between professionals and families, and prevailing biases and stigmas, as revealed by the reviewed studies. These findings prompt a closer look into the causes and implications of these disparities, offering the underlying issues within the current diagnostic system and highlighting the need for further research to ensure equal educational opportunities regardless of disabilities and race/ethnicity.

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11. Li H, Huang S, Jing J, Yu H, Gu T, Ou X, Pan S, Zhu Y, Su X. Dietary intake and gastrointestinal symptoms are altered in children with Autism Spectrum Disorder: the relative contribution of autism-linked traits. Nutr J;2024 (Feb 28);23(1):27.

BACKGROUND: Dietary and gastrointestinal (GI) problems have been frequently reported in autism spectrum disorder (ASD). However, the relative contributions of autism-linked traits to dietary and GI problems in children with ASD are poorly understood. This study firstly compared the dietary intake and GI symptoms between children with ASD and typically developing children (TDC), and then quantified the relative contributions of autism-linked traits to dietary intake, and relative contributions of autism-linked traits and dietary intake to GI symptoms within the ASD group. METHODS: A sample of 121 children with ASD and 121 age-matched TDC were eligible for this study. The dietary intake indicators included food groups intakes, food variety, and diet quality. The autism-linked traits included ASD symptom severity, restricted repetitive behaviors (RRBs), sensory profiles, mealtime behaviors, and their subtypes. Linear mixed-effects models and mixed-effects logistic regression models were used to estimate the relative contributions. RESULTS: Children with ASD had poorer diets with fewer vegetables/fruits, less variety of food, a higher degree of inadequate/unbalanced dietary intake, and more severe constipation/total GI symptoms than age-matched TDC. Within the ASD group, compulsive behavior (a subtype of RRBs) and taste/smell sensitivity were the only traits associated with lower vegetables and fruit consumption, respectively. Self-injurious behavior (a subtype of RRBs) was the only contributing trait to less variety of food. Limited variety (a subtype of mealtime behavior problems) and ASD symptom severity were the primary and secondary contributors to inadequate dietary intake, respectively. ASD symptom severity and limited variety were the primary and secondary contributors to unbalanced dietary intake, respectively. Notably, unbalanced dietary intake was a significant independent factor associated with constipation/total GI symptoms, and autism-linked traits manifested no contributions. CONCLUSIONS: ASD symptom severity and unbalanced diets were the most important contributors to unbalanced dietary intake and GI symptoms, respectively. Our findings highlight that ASD symptom severity and unbalanced diets could provide the largest benefits for the dietary and GI problems of ASD if they were targeted for early detection and optimal treatment.

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12. Liu J, Tan Y, Zhang F, Wang Y, Chen S, Zhang N, Dai W, Zhou L, Li JC. Metabolomic analysis of plasma biomarkers in children with autism spectrum disorders. MedComm (2020);2024 (Mar);5(3):e488.

Autism spectrum disorder (ASD) presents a significant risk to human well-being and has emerged as a worldwide public health concern. Twenty-eight children with ASD and 33 healthy children (HC) were selected for the quantitative determination of their plasma metabolites using an ultraperformance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) platform. A total of 1997 metabolites were detected in the study cohort, from which 116 metabolites were found to be differentially expressed between the ASD and HC groups. Through analytical algorithms such as least absolute shrinkage selection operator (LASSO), support vector machine (SVM), and random forest (RF), three potential metabolic markers were identified as FAHFA (18:1(9Z)/9-O-18:0), DL-2-hydroxystearic acid, and 7(S),17(S)-dihydroxy-8(E),10(Z),13(Z),15(E),19(Z)-docosapentaenoic acid. These metabolites demonstrated superior performance in distinguishing the ASD group from the HC group, as indicated by the area under curves (AUCs) of 0.935, 0.897, and 0.963 for the three candidate biomarkers, respectively. The samples were divided into training and validation sets according to 7:3. Diagnostic models were constructed using logistic regression (LR), SVM, and RF. The constructed three-biomarker diagnostic model also exhibited strong discriminatory efficacy. These findings contribute to advancing our understanding of the underlying mechanisms involved in the occurrence of ASD and provide a valuable reference for clinical diagnosis.

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13. Martin Loya MR, Meadan H. It’s our job to bridge the gap: Perspectives of bilingual autism providers on heritage language care. Autism;2024 (Feb 28):13623613241234413.

In the United States, many people have heritage languages they speak in their homes other than English, such as Chinese or Spanish. Autistic children whose families speak different languages could benefit from support and teaching in their heritage languages. Still, caregivers have reported that it is challenging to do so. Many autism professionals make suggestions that are not based on research. To date, researchers have not examined the perspectives of the small group of bilingual professionals in the United States who provide bilingual support for autistic children. Therefore, this study explored how bilingual autism providers in the United States talked about their work, bilingualism, and the impacts their bilingual work has on autistic children and families. The bilingual providers in this study reported many positive outcomes for autistic children when they can learn and use their heritage languages and some negative outcomes when providers cannot communicate in the same language. Recommendations from this study highlight the need to recruit more bilingual providers in the field of autism.

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14. Miner DC, Ailey SH, Thompson RA, Squires A, Adarlo A, Brown H. « We have met the enemy and it is us »: Healthcare professionals as the barrier to health equity for people with intellectual and developmental disability. Res Nurs Health;2024 (Feb 28)

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15. Mosconi MW, Stevens CJ, Unruh KE, Shafer R, Elison JT. Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder. J Neurodev Disord;2024 (Feb 28);16(1):4.

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16. Nour-Eldine W, Manaph NPA, Ltaief SM, Abdel Aati N, Mansoori MH, Al Abdulla S, Al-Shammari AR. Discovery of a novel cytokine signature for the diagnosis of autism spectrum disorder in young Arab children in Qatar. Front Psychiatry;2024;15:1333534.

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by impaired social interaction and communication and the occurrence of stereotyped and repetitive behaviors. Several studies have reported altered cytokine profiles in ASD and hence may serve as potential diagnostic biomarkers of the disorder. This study aims to identify diagnostic biomarkers for ASD in a well-defined study cohort in Qatar. METHODS: We measured the protein levels of 45 cytokines in the plasma samples of age- and gender-matched children (2-4 years) with ASD (n = 100) and controls (n = 60) using a Luminex multiplex assay. We compared the differences in the levels of these cytokines between the two study groups and then fitted the significantly altered cytokines into a logistic regression model to examine their diagnostic potential for ASD. RESULTS: We found elevated levels of IFN-γ, FGF-2, IL-1RA, and IL-13 and reduced levels of eotaxin, HGF, IL-1 alpha, IL-22, IL-9, MCP-1, SCF, SDF-1 alpha, VEGFA, and IP-10 in the plasma of children with ASD compared to controls. Furthermore, we observed that elevated levels of IFN-γ (odds ratio (OR) = 1.823; 95% (confidence interval) CI = 1.206, 2.755; p = 0.004) and FGF-2 (OR = 2.528; 95% CI = 1.457, 4.385; p < 0.001) were significantly associated with increased odds of ASD, whereas reduced levels of eotaxin (OR = 0.350; 95% CI = 0.160, 0.765; p = 0.008) and HGF (OR = 0.220; 95% CI = 0.070, 0.696; p = 0.010) were significantly associated with lower odds of ASD relative to controls. The combination of these four cytokines revealed an area under the curve (ROC-AUC) of 0.829 (95% CI = 0.767, 0.891; p < 0.001), which demonstrates the diagnostic accuracy of the four-cytokine signature. CONCLUSIONS: Our results identified a panel of cytokines that could discriminate between children with ASD and controls in Qatar. In addition, our findings support the predominance of a Th1 immune phenotype in ASD children and emphasize the need to validate these results in larger populations.

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17. Potts B, Smith N, Malamateniou C. Respectful language in autism research: In response to Abdelrahman et al. ‘Exploration of radiographers’ knowledge, attitudes, and practices in delivering healthcare to children with autism spectrum disorder.’. Radiography (Lond);2024 (Feb 26);30(2):702-703.

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18. Rizk S, Ngui EM, Salgado Z, Bosak DL, Khetani MA. Medical Home Care and Educational Services for Children and Youth on the Autism Spectrum: A Scoping Review. J Autism Dev Disord;2024 (Feb 28)

This scoping review examined current evidence on medical home care and its association with educational services for children and youth on the autism spectrum. We searched five databases and grey literature resulting in 328 publications. Publications meeting inclusion criteria were mapped to medical home care component(s) addressed, type(s) of educational services and their strength and type of association. The Andersen Behavioral Model of Health Services Use was used to summarize predisposing, enabling, and need factors considered. Eighteen publications were reviewed, including eight practice/policy reports and ten original research publications. Medical home care components most addressed included family-centered care (n = 10), referrals (n = 16), and effective care coordination (n = 13). Seven publications also addressed multiple educational service types. Two of the five publications that established a significant association between medical home care components and educational services had mixed results, with one publication reporting a negative association and the other publication reporting a positive association. Challenges to medical home care and educational services were most categorized as enabling factors. Results suggest three areas for further investigation: (1) limited evidence on the strength and type of association between medical home care components and educational services; (2) limited use of population data sources; and (3) the need to consider a broader range of factors when examining their association.

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19. Tsamitrou S, Plumet MH. The importance and challenges of observing social interactions in autistic preschoolers during inclusive educational settings: A scoping review. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241227077.

BACKGROUND AND AIMS: A growing number of autistic children have access to inclusive education programs as early as kindergarten. However, little is known about how they actually participate in social interactions and develop their communicative skills according to the parameters of this environment. The aim of this article is to review observational studies on this topic and critically analyze their methodological choices by arguing on the aspects of communication skills noted in the observation grids. Disparities in the information collected depending on the method used have implications for understanding and supporting autistic children in an inclusive school environment. METHODS: Observational studies on social interactions of autistic preschoolers within inclusive preschool settings were scoped. The studies were analyzed according to the following parameters: aims of observation, method used for coding, communication partners considered (adults and peers), type of children’s social engagement (initiatives and responses), diversity of communicative forms and communication functions, distinction and comparison of interactional contexts related to the activities, and whether changes linked to developmental variables are studied on an interindividual or longitudinal basis. RESULTS: Seventeen studies using the observation method in inclusive preschool settings were identified. Recordingmethods are mostly based on video recording. The coding grids mainly focus on autistic children while partners’ behaviors (adults, peers) are often coded in less detail, thus providing littleinformation on their dynamic role in the interactions. Overall, autistic children were found to initiate interactions much less often than they respond to it. The data generally distinguish thecommunicative forms used by children and indicate a predominance of nonverbal means at preschool level. However, a few studies coded communicative functions, whether they areaddressed to children or produced by them. In addition, very few studies compare interactions across activity contexts. In addition, very few studies compare interactions across activity contexts.Results of some studies showed that children initiated interaction more frequently during free play than during work activity, but results are heterogeneous. Developmental trajectories in socialskills seem to be associated with the severity of autism and language skills, but longitudinal designs are still rare. CONCLUSIONS AND IMPLICATIONS: Direct and fine-grained observation in the classroom is a key source of information about how communication takes place in preschool-inclusive settings. The data, despite some methodological challenges, offer opportunities for better adjustment based on professional objectives. Our review highlights the importance of offering occasions for initiatives to autistic children and training of neurotypical peers to better interact with autistic children and promote verbal communication. Further observational studies are needed to use more microanalytic measures of the functional quality of social interactions in autistic children, including joint comparisons between partners (adults vs. peers) and across contexts (e.g., play vs. structured development) so that appropriate strategies can be proposed in inclusive preschool settings.

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20. Wang C, Derderian KD, Hamada E, Zhou X, Nelson AD, Kyoung H, Ahituv N, Bouvier G, Bender KJ. Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD. Neuron;2024 (Feb 21)

Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly to the negative aspects of the disorder. Here, we identify a mechanism that underlies hypersensitivity in a sensorimotor reflex found to be altered in humans and in mice with loss of function in the ASD risk-factor gene SCN2A. The cerebellum-dependent vestibulo-ocular reflex (VOR), which helps maintain one’s gaze during movement, was hypersensitized due to deficits in cerebellar synaptic plasticity. Heterozygous loss of SCN2A-encoded Na(V)1.2 sodium channels in granule cells impaired high-frequency transmission to Purkinje cells and long-term potentiation, a form of synaptic plasticity important for modulating VOR gain. VOR plasticity could be rescued in mice via a CRISPR-activator approach that increases Scn2a expression, demonstrating that evaluation of a simple reflex can be used to assess and quantify successful therapeutic intervention.

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