1. Chen YC, Chen C, Martínez RM, Fan YT, Liu CC, Chen CY, Cheng Y. An amygdala-centered hyper-connectivity signature of threatening face processing predicts anxiety in youths with autism spectrum conditions. Autism research : official journal of the International Society for Autism Research. 2021; 14(11): 2287-99.

Anxiety is exceedingly prevalent among individuals with an autism spectrum condition (ASC). While recent literature postulates anxiety as a mechanism encompassing an underlying amygdala-related elevated baseline level of arousal even to nonthreatening cues, whether this same mechanism contributes to anxiety in those with an ASC and supports the transdiagnostic nature of anxiety remains elusive. In this case-control study of 51 youths (26 ASC), we assessed autism and anxiety via the Autism-Spectrum Quotient and the State-Trait Anxiety Inventory, respectively. Hemodynamic responses, including amygdala reactivity, to explicit and implicit (backwardly masked) perception of threatening faces were acquired using functional Magnetic Resonance Imaging (fMRI). For explicit fear, ASC individuals showed significantly greater negative correlations between the amygdala and the attentional deployment-parietal network. For implicit fear, ASC individuals showed significantly stronger correlations of the amygdala with the prefrontal networks, temporal pole, and hippocampus. Additionally, an fMRI-based neurologic signature for anxiety in ASCs was identified via the LibSVM machine learning model using amygdala-centered functional connectivity during the emotional processing of explicit and implicit stimuli. Hypervigilance to implicit threat in ASCs comorbid with anxiety might exacerbate explicit threat reactivity; hence the use of attentional avoidance patterns to restrict affective hyperarousal for explicitly perceived socioemotional stimuli. Consequently, developing an attention-independent behavioral/neural marker identifying anxiety in ASCs is highly warranted. LAY SUMMARY: This study identifies a dissociation of amygdala reactivity dependent on explicit and implicit threat processing. Implicit anxiety in individuals with an autism spectrum condition (ASC) could outweigh explicitly induced threat. When explicitly perceiving socioemotional stimuli, ASC individuals with anxiety might use attentional avoidance patterns to restrict affective hyperarousal.

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2. Dong HY, Feng JY, Wang B, Shan L, Jia FY. Screen Time and Autism: Current Situation and Risk Factors for Screen Time Among Pre-school Children With ASD. Frontiers in psychiatry. 2021; 12: 675902.

Objective: To investigate the current status of screen time in children with ASD, its correlation with autistic symptoms and developmental quotient (DQ), and the factors affecting screen time. Method: One hundred ninety-three Chinese children with ASD were recruited. We collected the demographic and screen time data using a questionnaire. The ASD core symptoms and developmental quotient (DQ) were measured by the Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Griffiths Development Scales-Chinese Language Edition (GDS-C), and Chinese Children’s Parent-Child Relationship Questionnaire (CPCIS). Then, we analyzed the correlations between the screen time of children with ASD and the ABC, CARS, ADOS, GDS-C DQs, and CPCIS scores. Linear regression was used to analyze the risk factors that affect screen time. Results: The children’s average daily screen time was 2.64 ± 2.24 h. Forty eight percent children were exposed to two or more types of electronic devices. Their favorite activity of screen time was watching cartoons. Only 34% children spent screen time accompanied by parents and with communication. 50.26% children had no screen time before sleeping. The screen time of children with ASD had a negative correlation with the GDS-C CQ (r = -0.234, P = 0.001) and the CPCIS score (r = -0.180, P = 0.012) and a positive correlation with the CARS score (r = 0.192, P = 0.009). A low father’s education level (P = 0.010), less restriction of the child’s screen time by the guardian (P = 0.001), greater caregiver screen time (P < 0.001), the use of the screen as a tool for child rearing (P = 0.001), and the child's ownership of independent electronic equipment (P = 0.027) are risk factors for long screen time in children with ASD. Conclusion: The screen time of children with ASD in China is higher than the recommended standard, and the current situation is serious. The screen time of ASD children is related to their autism symptoms, DQ and parent-child interaction. Low paternal education levels, less restriction of children's screen time by guardians, greater guardian screen time, the use of screens in child rearing, and children's ownership of independent electronic equipment can lead to an increase in children's screen time. These findings may have implications for family intervention strategies.

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3. Fein D, Eigsti IM, Barton M. Response to « A radical change in our autism research strategy is needed: Back to prototypes » by Mottron et al. (2021). Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2237-8.

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4. Geier DA, Geier MR. A Longitudinal Cohort Study of Precocious Puberty and Autism Spectrum Disorder. Hormone research in paediatrics. 2021; 94(5-6): 219-28.

INTRODUCTION: Autism spectrum disorder (ASD) is defined by persistent deficits in communication, socialization, and stereotypic behaviors. It was previously hypothesized that hormone dysfunction is a frequent occurrence among children diagnosed with an ASD. OBJECTIVES: A hypothesis-testing epidemiological study examined the relationship between precocious puberty (PP) (a known disorder of childhood sex hormone dysfunction) and ASD diagnoses. METHODS: The Independent Healthcare Research Database is composed of de-identified linked eligibility and claims health-care records prospectively generated from the Florida Medicaid system. A cohort of 101,736 children eligible for Florida Medicaid from 1990 to 2009 and continuously eligible with ≥10 outpatient office visits during the 120-month period following birth were examined using SAS and StatsDirect software. There were 1,593 children (15,738 person-years) in the ASD diagnosed cohort utilizing the Diagnostic and Statistical Manual of Mental Disorders, 4th revision criteria (the International Code for Disease, 9th revision [ICD-9] codes: 299.00 or 299.80) and 100,143 children (996,835 person-years) in the undiagnosed cohort. RESULTS: The incidence rate of PP (ICD-9 code: 259.1) was examined using Cox proportional hazards ratio (HR) and frequency models. PP per 10,000 person-years in the ASD cohort (43.2) relative to the undiagnosed cohort (13.7) was significantly increased in frequency modeling (risk ratio = 3.15, p < 0.0001) and Cox proportional HR modeling (adjusted HR = 4.64, p < 0.0001). Further analyses revealed the incidence rate of PP diagnosed after 3 years of age was significantly increased (adjusted HR = 5.16, p < 0.0001) in the ASD cohort relative to the undiagnosed cohort but not for the incidence rate of PP diagnosed before 3 years (adjusted HR = 1.57, p = 0.44). CONCLUSION: This hypothesis-testing study provides strong evidence of an increased incidence rate of PP among children diagnosed with an ASD.

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5. Glugatch LB, Machalicek W. Examination of the Effectiveness and Acceptability of a Play-Based Sibling Intervention for Children with Autism: A Single-Case Research Design. Education & treatment of children. 2021; 44(4): 249-67.

Complementary and reciprocal interactions are a defining feature of sibling relationships for young children. However, the social and communication difficulties of children with autism spectrum disorder (ASD) can make reciprocal play more difficult and play between siblings can be less rewarding. Sibling play can serve an important role in intervention and family cohesiveness, but there is no consistent method for involving siblings in intervention benefitting the sibling dyad. This study evaluated a novel treatment package including training siblings on play strategies to increase positive sibling play in combination with a sibling support group to offer social support for the neurotypical sibling (NT). The effects of the treatment package on NT sibling play and fidelity of implementation of naturalistic play strategies was examined using a concurrent multiple-baseline design across six dyads, five of whom completed the intervention. After behavior skills training, all NT siblings increased the number of strategies they used, and increased the frequency of initiations towards their sibling with ASD. In addition, the percentage of reciprocal play between siblings increased. Generalization probes and follow-up probes demonstrated above-baseline levels of performance across most dyads, indicating that the skills learned generalized across other toys and were maintained over time. Only three of the sibling support group sessions were completed due to the COVID-19 pandemic. Although the effectiveness of the sibling support group cannot be determined, social validity questionnaires suggest siblings and parents valued and liked the support group. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s43494-021-00043-5.

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6. Levy Y. An even more radical change is needed in our autism research strategy: Comments on Mottron (2021). Autism research : official journal of the International Society for Autism Research. 2021; 14(10): 2239-40.

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7. Liu P, Sutherland M, Pollick FE. Incongruence effects in cross-modal emotional processing in autistic traits: An fMRI study. Neuropsychologia. 2021; 161: 107997.

In everyday life, emotional information is often conveyed by both the face and the voice. Consequently, information presented by one source can alter the way in which information from the other source is perceived, leading to emotional incongruence. Here, we used functional magnetic resonance imaging (fMRI) to examine neutral correlates of two different types of emotional incongruence in audiovisual processing, namely incongruence of emotion-valence and incongruence of emotion-presence. Participants were in two groups, one group with a low Autism Quotient score (LAQ) and one with a high score (HAQ). Each participant experienced emotional (happy, fearful) or neutral faces or voices while concurrently being exposed to emotional (happy, fearful) or neutral voices or faces. They were instructed to attend to either the visual or auditory track. The incongruence effect of emotion-valence was characterized by activation in a wide range of brain regions in both hemispheres involving the inferior frontal gyrus, cuneus, superior temporal gyrus, and middle frontal gyrus. The incongruence effect of emotion-presence was characterized by activation in a set of temporal and occipital regions in both hemispheres, including the middle occipital gyrus, middle temporal gyrus and inferior temporal gyrus. In addition, the present study identified greater recruitment of the right inferior parietal lobule in perceiving audio-visual emotional expressions in HAQ individuals, as compared to the LAQ individuals. Depending on face or voice-to-be attended, different patterns of emotional incongruence were found between the two groups. Specifically, the HAQ group tend to show more incidental processing to visual information whilst the LAQ group tend to show more incidental processing to auditory information during the crossmodal emotional incongruence decoding. These differences might be attributed to different attentional demands and different processing strategies between the two groups.

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8. Manfredi M, Fernandes Rodrigues Pereira E, Horta Tabosa do Egito J, Scarano de Mendonça J, Caldas Osório AA. Altruistic helping in young children with ASD: A preliminary study. Research in developmental disabilities. 2021; 118: 104067.

It has long been claimed that individuals with an autism spectrum disorder (ASD) show impaired prosocial behavior, however there is little direct evidence in support of this claim and inconsistencies have been reported in the literature. Therefore, the goal of this study was to compare the levels of altruistic behavior in 15 young children with an ASD and 14 children with Down syndrome, paired in chronological age (age range between 2 years and 8 months and 6 years and 2 months) and non-verbal intellectual ability. Our results showed that children with an ASD engaged less frequently in altruistic behavior compared to the DS group. In addition, we found a significant negative correlation between the severity of autism symptoms and altruistic behavior in the ASD group, suggesting that the more severe the symptoms of ASD, the less frequent the altruistic behaviors. Conversely, no significant correlations were found between non-verbal IQ level and performance in the altruistic behavior tasks, in either group. Overall, our results suggest that, regardless of intellectual skills, the ability to engage in altruistic behavior is compromised in young children with ASD.

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9. McQuaid GA, Lee NR, Wallace GL. Camouflaging in autism spectrum disorder: Examining the roles of sex, gender identity, and diagnostic timing. Autism : the international journal of research and practice. 2022; 26(2): 552-9.

Camouflaging in autism spectrum disorder refers to behaviors and/or strategies that mask the presentation of autism spectrum disorder features in social contexts in order to appear « non-autistic » (Attwood, 2007). Camouflaging modifies the behavioral presentation of core autism spectrum disorder features (e.g. social and communication differences), but the underlying autistic profile is unaffected, yielding a mismatch between external observable features and the internal lived experience of autism. Camouflaging could be an important factor in later diagnosis of individuals without co-occurring intellectual disability, especially among those designated female sex at birth. Little research to date has examined how gender identity impacts camouflaging, however. Furthermore, no study has compared groups that differ in diagnostic timing to directly investigate if later-diagnosed individuals show elevated camouflaging relative to those receiving an earlier diagnosis. We used the Camouflaging Autistic Traits Questionnaire subscales (Assimilation, Compensation, and Masking) and investigated the roles of sex, gender identity (gender diverse vs cisgender), and diagnostic timing (childhood/adolescent-diagnosed vs adult-diagnosed), and the interactions of these factors, in autistic adults (N = 502; ages 18-49 years). Main effects of sex, gender identity, and diagnostic timing were revealed. Autistic females reported more camouflaging across all three Camouflaging Autistic Traits Questionnaire subscales compared to males. Gender diverse adults reported elevated camouflaging on the Compensation subscale compared to cisgender adults. Adulthood-diagnosed individuals reported elevated Assimilation and Compensation compared to childhood/adolescence-diagnosed individuals. We discuss how the aspects of camouflaging may have unique implications for later diagnostic timing and for the intersection of neurodiversity and gender diversity.

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10. Nguyen HT, Rosenberg J, Kistin CJ, Feinberg E, Broder-Fingert S. Achieving Diagnostic Resolution in Young Children with Social Communication Concerns in a Predominantly Low-Income Population. Journal of health care for the poor and underserved. 2021; 32(3): 1359-71.

Children in low-income families are at risk for delayed diagnosis of autism spectrum disorder (ASD). The cascade-of-care model, which examines steps of care for quality and efficacy, can identify lesions in the process for evaluation and diagnosis for children at risk for ASD. Little is known about predictors that influence key steps in this process. We performed a retrospective chart review of 110 children under age five years from an academic medical center with social communication concerns. We assessed predictors of age of referral for ASD diagnostic evaluation, time to diagnosis, and likelihood of diagnostic completion. Children with continuity of primary care were referred at an earlier age than those receiving primary care at multiple centers. Compared with children with missed visits, children attending all well-child visits had a shorter median time to diagnosis. These findings illustrate a need for primary medical homes to facilitate early and timely ASD evaluations.

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11. Pereira G, Francis RW, Gissler M, Hansen SN, Kodesh A, Leonard H, Levine SZ, Mitter VR, Parner ET, Regan AK, Reichenberg A, Sandin S, Suominen A, Schendel D. Optimal interpregnancy interval in autism spectrum disorder: A multi-national study of a modifiable risk factor. Autism research : official journal of the International Society for Autism Research. 2021; 14(11): 2432-43.

It is biologically plausible that risk of autism spectrum disorder (ASD) is elevated by both short and long interpregnancy intervals (IPI). We conducted a retrospective cohort study of singleton, non-nulliparous live births, 1998-2007 in Denmark, Finland, and Sweden (N = 925,523 births). Optimal IPI was defined as the IPI at which minimum risk was observed. Generalized additive models were used to estimate relative risks (RR) of ASD and 95% Confidence Intervals (CI). Population impact fractions (PIF) for ASD were estimated under scenarios for shifts in the IPI distribution. We observed that the association between ASD (N = 9302) and IPI was U-shaped for all countries. ASD risk was lowest (optimal IPI) at 35 months for all countries combined, and at 30, 33, and 39 months in Denmark, Finland, and Sweden, respectively. Fully adjusted RRs at IPIs of 6, 12, and 60 months were 1.41 (95% CI: 1.08, 1.85), 1.26 (95% CI: 1.02, 1.56), and 1.24 (95% CI: 0.98, 1.58) compared to an IPI of 35 months. Under the most conservative scenario PIFs ranged from 5% (95% CI: 1%-8%) in Denmark to 9% (95% CI: 6%-12%) in Sweden. The minimum ASD risk followed IPIs of 30-39 months across three countries. These results reflect both direct IPI effects and other, closely related social and biological pathways. If our results reflect biologically causal effects, increasing optimal IPIs and reducing their indications, such as unintended pregnancy and delayed age at first pregnancy has the potential to prevent a salient proportion of ASD cases. LAY SUMMARY: Waiting 35 months to conceive again after giving birth resulted in the least risk of autism. Shorter and longer intervals resulted in risks that were up to 50% and 85% higher, respectively. About 5% to 9% of autism cases might be avoided by optimizing birth spacing.

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12. Rolison M, Lacadie C, Chawarska K, Spann M, Scheinost D. Atypical Intrinsic Hemispheric Interaction Associated with Autism Spectrum Disorder Is Present within the First Year of Life. Cerebral cortex (New York, NY : 1991). 2022; 32(6): 1212-22.

Autism spectrum disorder (ASD) is characterized by atypical connectivity lateralization of functional networks. However, previous studies have not directly investigated if differences in specialization between ASD and typically developing (TD) peers are present in infancy, leaving the timing of onset of these differences relatively unknown. We studied the hemispheric asymmetries of connectivity in children with ASD and infants later meeting the diagnostic criteria for ASD. Analyses were performed in 733 children with ASD and TD peers and in 71 infants at high risk (HR) or normal risk (NR) for ASD, with data collected at 1 month and 9 months of age. Comparing children with ASD (n = 301) to TDs (n = 432), four regions demonstrated group differences in connectivity: posterior cingulate cortex (PCC), posterior superior temporal gyrus, extrastriate cortex, and anterior prefrontal cortex. At 1 month, none of these regions exhibited group differences between ASD (n = 10), HR-nonASD (n = 15), or NR (n = 18) infants. However, by 9 months, the PCC and extrastriate exhibited atypical connectivity in ASD (n = 11) and HR-nonASD infants (n = 24) compared to NR infants (n = 22). Connectivity did not correlate with symptoms in either sample. Our results demonstrate that differences in network asymmetries associated with ASD risk are observable prior to the age of a reliable clinical diagnosis.

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13. Santana-Coelho D, Layne-Colon D, Valdespino R, Ross CC, Tardif SD, O’Connor JC. Advancing Autism Research From Mice to Marmosets: Behavioral Development of Offspring Following Prenatal Maternal Immune Activation. Frontiers in psychiatry. 2021; 12: 705554.

Understanding the mechanism(s) by which maternal immune activation (MIA) during gestation may disrupt neurodevelopment and increase the susceptibility for disorders such as autism spectrum disorder (ASD) or schizophrenia is a critical step in the development of better treatments and preventive measures. A large body of literature has investigated the pathophysiology of MIA in rodents. However, a translatability gap plagues pre-clinical research of complex behavioral/developmental diseases and those diseases requiring clinical diagnosis, such as ASD. While ideal for their genetic flexibility, vast reagent toolkit, and practicality, rodent models often lack important elements of ethological validity. Hence, our study aimed to develop and characterize the prenatal MIA model in marmosets. Here, we adapted the well-characterized murine maternal immune activation model. Pregnant dams were administered 5 mg/kg poly-L-lysine stabilized polyinosinic-polycytidylic acid (Poly ICLC) subcutaneously three times during gestation (gestational day 63, 65, and 67). Dams were allowed to deliver naturally with no further experimental treatments. After parturition, offspring were screened for general health and vigor, and individual assessment of communication development and social behavior was measured during neonatal or adolescent periods. Similar to rodent models, offspring subjected to MIA exhibited a disruption in patterns of communication during early development. Assessment of social behavior in a marmoset-modified 3-chamber test at 3 and 9 months of age revealed alterations in social behavior that, in some instances, was sex-dependent. Together, our data indicate that marmosets are an excellent non-human primate model for investigating the neurodevelopmental and behavioral consequences of exposure to prenatal challenges, like MIA. Additional studies are necessary to more completely characterize the effect of prenatal inflammation on marmoset development and explore therapeutic intervention strategies that may be applicable in a clinical setting.

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14. Schott W, Tao S, Shea L. COVID-19 risk: Adult Medicaid beneficiaries with autism, intellectual disability, and mental health conditions. Autism : the international journal of research and practice. 2022; 26(4): 975-87.

Autistic adults, adults with intellectual disability, and adults with other mental health conditions may have higher risk of contracting COVID-19 or experiencing more severe illness from COVID-19 if infected. We used data from Medicaid to look at whether autistic adults and other adults with intellectual disability and other mental health conditions were more likely to have risk factors for COVID-19, such as living in a residential facility, receiving services regularly in the home from outside caregivers, having had a long hospitalization, having had avoidable hospitalizations, and having high-risk health conditions. We found that autistic adults had higher odds of living in a residential facility, receiving in-home services from outside caregivers, having had an avoidable hospitalization, and having a high-risk health condition, compared to neurotypical adults without mental health conditions. Adults with intellectual disability had similar odds of having these conditions. Adults with other mental health conditions were also more likely to live in a residential facility, receive services from outside caregivers, and have had avoidable hospitalizations compared to the neurotypical population without mental health conditions. They had three times higher odds of having a high-risk health condition. High risk of COVID-19 among autistic adults and adults with intellectual disability and mental health conditions should be recognized by clinicians, and these groups should be prioritized for vaccine outreach.

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15. Traetta ME, Uccelli NA, Zárate SC, Gómez Cuautle D, Ramos AJ, Reinés A. Long-Lasting Changes in Glial Cells Isolated From Rats Subjected to the Valproic Acid Model of Autism Spectrum Disorder. Frontiers in pharmacology. 2021; 12: 707859.

Synaptic alterations concomitant with neuroinflammation have been described in patients and experimental models of autism spectrum disorder (ASD). However, the role of microglia and astroglia in relation to synaptic changes is poorly understood. Male Wistar rats prenatally exposed to valproic acid (VPA, 450 mg/kg, i.p.) or saline (control) at embryonic day 10.5 were used to study synapses, microglia, and astroglia in the prefrontal cortex (PFC) at postnatal days 3 and 35 (PND3 and PND35). Primary cultures of cortical neurons, microglia, and astroglia isolated from control and VPA animals were used to study each cell type individually, neuron-microglia and microglia-astroglia crosstalk. In the PFC of VPA rats, synaptic changes characterized by an increase in the number of excitatory synapses were evidenced at PND3 and persisted until PND35. At PND3, microglia and astroglia from VPA animals were morphologically similar to those of age-matched controls, whereas at PND35, reactive microgliosis and astrogliosis were observed in the PFC of VPA animals. Cortical neurons isolated from VPA rats mimicked in vitro the synaptic pattern seen in vivo. Cortical microglia and astroglia isolated from VPA animals exhibited reactive morphology, increased pro-inflammatory cytokines, and a compromised miRNA processing machinery. Microglia from VPA animals also showed resistance to a phagocytic challenge. In the presence of neurons from VPA animals, microglia isolated from VPA rats revealed a non-reactive morphology and promoted neurite outgrowth, while microglia from control animals displayed a reactive profile and promoted dendritic retraction. In microglia-astroglia co-cultures, microglia from VPA animals displayed a reactive profile and exacerbated astrocyte reactivity. Our study indicates that cortical microglia from VPA animals are insensitive or adapted to neuronal cues expressed by neurons from VPA animals. Further, long-term in vivo microgliosis could be the result of altered microglia-astroglia crosstalk in VPA animals. Thus, our study highlights cortical microglia-astroglia communication as a new mechanism implicated in neuroinflammation in ASD; consequently, we propose that this crosstalk is a potential target for interventions in this disorder.

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16. Türkoğlu S, Uçar HN, Çetin FH, Güler HA, Tezcan ME. The relationship between irritability and autism symptoms in children with ASD in COVID-19 home confinement period. International journal of clinical practice. 2021; 75(11): e14742.

OBJECTIVE: This study investigated the impact of COVID-19 home confinement on autism spectrum disorder (ASD) symptoms and irritability in children and adolescents with ASD. METHOD: The study participants included 46 drug-naive children aged 4-17 years diagnosed with ASD. Parents of the participants completed the Autism Behaviour Checklist (AuBC) and Affective Reactivity Index (ARI) scales for both normal conditions and COVID-19 home confinement. RESULTS: All subscale scores for AuBC (sensory, relating, body and object use, language, and social and self-help) and ARI scores significantly increased during the COVID-19 home confinement period (P < .05). The participants' irritability and ASD symptoms were significantly worse during the COVID-19 outbreak and home confinement period compared to normal conditions. The variables that predicted irritability were the social and self-help subscales of AuBC. DISCUSSION: These results have alerted us of the importance of focusing on the symptoms such as irritability exhibited by extremely vulnerable populations during disease outbreaks and of the necessity of developing new strategies to avoid such adverse outcomes in similar situations.

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17. Uljarević M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. American journal of medical genetics Part A. 2021; 185(11): 3401-10.

This study aimed to further our understanding of restricted and repetitive behaviors (RRB) among individuals with germline pathogenic mutations in PTEN by providing multimethod characterization and comparison of key RRB subdomains across individuals with PTEN mutations with autism spectrum disorder (ASD) (PTEN-ASD), with PTEN mutations without ASD (PTEN-No ASD) and with ASD and macrocephaly but without PTEN mutations (Macro-ASD). Of 86 total research participants, 38 had PTEN-ASD (M(age) = 8.93 years, SD(age) = 4.75), 25 Macro-ASD (M(age) = 11.99 years; SD(age) = 5.15), and 23 PTEN-No ASD (M(age) = 8.94 years; SD(age) = 4.85). The Repetitive Behavior Scale-Revised (RBS-R) and the Autism Diagnostic Interview-Revised (ADI-R) were used as measures of distinct RRB domains. There were significant group differences in the RBS-R repetitive motor behaviors (RMB; F = 4.52, p = 0.014, ω(2) = 0.08), insistence on sameness (IS; F = 4.11, p = 0.02, ω(2) = 0.05), and circumscribed interests (CI; F = 7.80, p = 0.001, ω(2) = 0.14) scales. Post hoc comparisons showed that the PTEN-No ASD group had significantly lower RMB, IS, and CI scores compared to both PTEN-ASD and Macro-ASD groups. Importantly, PTEN-No ASD group still showed elevated RRB levels. Furthermore, there was a portion of individuals in PTEN-No ASD group whose Full-Scale Intelligence Quotient (FSIQ) was >70 that did not show floor level scores in the RMB domain. After adjusting for age and FSIQ scores, group differences were no longer statistically significant. RMB, IS, and CI domains showed distinct association patterns with sex, age, and FSIQ. This investigation provides the largest and most comprehensive characterization of distinct RRB domains in individuals with PTEN mutations to date. Despite the limitations, our findings have important assessment and treatment implications.

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18. Yoganathan S, Arunachal G, Gowda VK, Vinayan KP, Thomas M, Whitney R, Jain P. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases. Seizure. 2021; 92: 52-5.

PURPOSE: This study aimed to describe the phenotype of five new cases of NTRK2-related developmental and epileptic encephalopathy (DEE). METHODS: The clinical features, EEG, neuroimaging and genetics were reviewed for cases with likely pathogenic and pathogenic NTRK2 variants and then summarized. RESULTS: Five cases of NTRK2-related DEE were identified. Four had a previously described recurrent variant in NTRK2 and one had a novel variant. The phenotype was characterized by early- onset seizures (infantile spasms, later evolving to multifocal seizures), global developmental delay, variable movement disorders, microcephaly and optic nerve hypoplasia. CONCLUSIONS: This series further expands our knowledge of the phenotype and genotype of NTRK2-related DEE.

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