1. Anbar J, Sbeglia CJ, Braden BB, Smith CJ, Mitchell M, Matthews NL. A Longitudinal Examination of Autism Services, Child Adaptive Functioning, and Parent Quality of Life during the COVID-19 Pandemic. J Autism Dev Disord. 2024.

The delivery of services to children with autism spectrum disorder (ASD) was disrupted during the coronavirus disease 2019 (COVID-19) pandemic, which may have affected child functioning and caregiver quality of life (QoL). This study examined changes in service intensity, child adaptive functioning, and caregiver QoL during the COVID-19 pandemic. Participants were 146 caregivers (87% mothers) of children with ASD (M age = 8.22 years; SD = 4.21) who were invited to complete an online survey about service intensity, child functioning, and caregiver QoL at four time points between the summer of 2020 and the summer of 2021. Simple regressions indicated that child adaptive functioning and caregiver QoL increased over time after stay-at-home orders were lifted. Fixed effects regression models indicated that increases in service intensity were associated with concurrent increases in caregiver physical QoL. Decreases in child repetitive behaviors were associated with concurrent increases in caregiver social and environmental QoL. These findings suggest that children and their caregivers demonstrated resilience in the year after stay-at-home orders were lifted. Additionally, service intensity and child repetitive behaviors may impact caregiver QoL, making these variables areas of opportunity for stakeholders and professionals.

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2. Carati E, Angotti M, Pignataro V, Grossi E, Parmeggiani A. Exploring sensory alterations and repetitive behaviors in children with autism spectrum disorder from the perspective of artificial neural networks. Res Dev Disabil. 2024; 155: 104881.

BACKGROUND: Restrictive repetitive behaviors (RRBs) and sensory processing disorders are core symptoms of autism spectrum disorder (ASD). Their relationship is reported, but existing data are conflicting as to whether they are related but distinct, or different aspects of the same phenomenon. AIMS: This study investigates this relationship using artificial neural networks (ANN) analysis and an innovative data mining analysis known as Auto Contractive Map (Auto-CM), which allows to discover hidden trends and associations among complex networks of variables (e.g. biological systems). METHODS AND PROCEDURES: The Short Sensory Profile and the Repetitive Behavior Scale-Revised were administered to 45 ASD children’s caregivers (M 78 %; F 22 %; mean age 6 years). Questionnaires’ scores, clinical and demographic data were collected and analyzed applying Auto-CM, and a connectivity map was drawn. OUTCOMES AND RESULTS: The main associations shown by the resulting maps confirm the known relationship between RBBs and sensory abnormalities, and support the existence of sensory phenotypes, and important links between RRBs and sleep disturbance in ASD. CONCLUSIONS AND IMPLICATIONS: Our study demonstrates the usefulness of ANNs application and its easy handling to research RBBs and sensory abnormalities in ASD, with the aim to achieve better individualized rehabilitation technique and improve early diagnosis. PAPER’S CONTRIBUTION: Restricted, repetitive patterns of behaviors and interests and alteration of sensory elaboration are core symptoms of ASD; their impact on patients’ quality of life is known. This study introduces two main novelties: 1) the simultaneous and comparative use of two parent questionnaires (SSP and RBS-R) utilized for RRBs and alteration of sensory profile; 2) the application of ANNs to this kind of research. ANNs are adaptive models particularly suited for solving non-linear problems. While they have been widely used in the medical field, they have not been applied yet to the analysis of RRBs and sensory abnormalities in general, much less in children with ASD. The application of Auto Contractive Map (Auto-CM), a fourth generation ANNs analysis, to a dataset previously explored using classical statistical models, confirmed and expanded the associations emerged between SSP and RBS-R subscales and demographic-clinical variables. In particular, the Low Energy subscale has proven to be the central hub of the system; interesting links have emerged between the subscale Self-Injurious Behaviors and the variable intellectual disability and between sleep disturbance and various RRBs. Expanding research in this area aims to guide and modulate an emerging targeted and personalized rehabilitation therapy.

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3. de Oliveira Franco Á, Morillos MB, Bravo Leite MT, Bianchin MM, Torres CM. DHDDS-related epilepsy with hippocampal atrophy: a case report. Neurogenetics. 2024; 26(1): 3.

Developmental delay and seizures with or without movement abnormalities (DEDSM) is a neurodevelopmental phenotype associated with monoallelic mutations in the DHDDS gene. We report a novel case of DEDSM linked to a DHDDS variant (c.614G > A, p.Arg205Gln) in a 45-year-old Brazilian patient presenting with refractory epilepsy, ataxia, dystonia, parkinsonism, and global developmental delay. This is the first case to associate a DHDDS variant with hippocampal atrophy on neuroimaging. After adjustments in anticonvulsant therapy, seizure control was achieved, and the patient-who was previously unable to walk due to frequent falls attributed to myoclonic jerks-showed significant improvement in gait and mobility.

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4. Dechsling A. Letter to the Editor: Virtual Reality in Facilitating Interaction with Police During Routine Traffic Stops for Persons with Autism. J Autism Dev Disord. 2024.

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5. Dehesh T, Mosleh-Shirazi MA, Jafari S, Abolhadi E, Dehesh P. A assessment of the effects of parental age on the development of autism in children: a systematic review and a meta-analysis. BMC Psychol. 2024; 12(1): 685.

OBJECTIVE: There has been conflicting evidence in earlier research on the association between parental age and autism risk. To clarify this association, we conducted a comprehensive meta-analysis of observational studies. The primary objective of this study was to determine the association between parents’ age and the risk of autism in the offspring. METHODS: PubMed, EMBASE and Web of Science were searched for reports published up to November 2023. Results from relevant studies were pooled using random effects models. Subgroup analyses and meta-regression were performed to examine heterogeneity between the studies. Studies were included in this meta-analysis that focused on children with autism and examined the relationship between parents’ age (mother or father) and the risk of autism.The quality of studies was assessed using the Newcastle-Ottawa Scale (NOS). RESULTS: This meta-analysis included 41 articles. The low age of mother (OR = 0.96, (95% CIs: 0.88-1.05) and father (OR = 1.11, (95% CIs: 0.98-1.24) was not significantly associated with lower risk of autism in children. Conversely, greater paternal and maternal ages were associated with an increased risk of autism in their children. The adjusted odds ratios for mothers’ and fathers’ ages were 1.47 (95% CIs: 1.33-1.62) and 1.51 (95% CIs: 1.40-1.62), respectively. CONCLUSION: Increased risk of autism in children is significantly associated with greater parents’ ages. Further research is needed to gain further insight into the mechanisms responsible for the effects of parents’ ages on the risk of autism in children. The findings of previous studies on the association between parents’ ages and their children’s autism risk have been mixed. Therefore, by carefully examining a number of previous investigations, in this study we aimed to determine the exact relationship between parental age and autism risk. According to the study’s findings, parents who are older have a higher chance of their child getting autism. In other words, children of older parents are more likely to develop autism. The exact causes of this relationship, however, are still unclear. This study shows that higher age of parents can be one of the risk factors for autism in their childs.

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6. Ferguson EF, Spackman E, Cai RY, Hardan AY, Uljarević M. Exploring the Heterogeneity of Self-Injurious Behaviors in Autistic Youth: Patterns, Predictors, and Implications for Intervention. Autism Res. 2024.

Self-injurious behaviors (SIB) encompass a heterogeneous set of self-inflicted aggressive behaviors that are highly prevalent in autistic youth. Existing research on SIB in autism spectrum disorder (ASD) has been limited by significant methodological and conceptual inconsistencies. Thus, the current study leveraged item-level data capturing the severity of unique SIB topographies to further understanding of factors associated with distinct SIB in a sample of 582 autistic youth (M(age) = 12.12, SD(age) = 3.68; range: 3-19 years; 13% females). Results suggest variation in severity endorsements for specific SIB topographies amongst autistic youth, such that 30%-50% of caregivers endorsed slight to very serious concern regarding the SIB topographies of bites nails/skin/fingers, scratches self, hits head/face/neck, bangs head against things, and picks skin. Generalized additive models demonstrated distinct patterns of associations between each SIB topography and dysregulation, sensory hypersensitivity, age, sex, IQ, and language level. Findings underscore the importance of exploring SIB as a multifaceted construct to capture unique correlates of distinct SIB that vary in severity and functional impact, which is critical for the development of effective interventions. This study represents an important step towards more individualized characterization of SIB and support for diverse presentations of these behaviors in autistic youth.

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7. Geelhand P, Papastamou F, Jaspard S, Kissine M. Autistic adults display different verbal behavior only in mixed-neurotype interactions: Evidence from a referential communication task. Autism. 2024: 13623613241298376.

Recent research shows that in conversations, both participants influence the outcome. More specifically, conversations do not go as smoothly when autistic and non-autistic people talk together compared to when people of the same neurotype (either all autistic or all non-autistic) talk to each other. In studies finding a « same-neurotype communicative advantage », interaction partners knew about each other’s neurotype. Because of this methodological choice, it is unclear whether mixed-neurotype interactions go less smoothly because participants knew they were interacting with a different neurotype or because each neurotype really has a distinct communication style. In our study, 134 adults were grouped into same-sex pairs: 23 autistic, 23 non-autistic, and 21 mixed-neurotype pairs. The pairs did not know if the other person was autistic or not. They completed an online task where the « Director » instructs the « Matcher » to reorder abstract pictures. Pairs did this task in two ways: by typing in a live chat and by speaking into a microphone without video. The study looked at how long the task took and how much the Director talked/wrote. Results showed that non-autistic pairs were faster to complete the task than autistic pairs and mixed pairs, meaning pairs with at least one autistic person were slower in general to complete the task. Interestingly, in mixed pairs, only autistic Directors produced more words than non-autistic Directors, in both typing and speaking. These findings suggest that even without knowing about their partner’s neurotype and seeing/hearing their partner, autistic adults communicate differently when they interact with a non-autistic person.

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8. Gjoni K, Ren X, Everitt A, Shen Y, Pollard KS. De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes. bioRxiv. 2024.

Three-dimensional genome organization plays a critical role in gene regulation, and disruptions can lead to developmental disorders by altering the contact between genes and their distal regulatory elements. Structural variants (SVs) can disturb local genome organization, such as the merging of topologically associating domains upon boundary deletion. Testing large numbers of SVs experimentally for their effects on chromatin structure and gene expression is time and cost prohibitive. To address this, we propose a computational approach to predict SV impacts on genome folding, which can help prioritize causal hypotheses for functional testing. We developed a weighted scoring method that measures chromatin contact changes specifically affecting regions of interest, such as regulatory elements or promoters, and implemented it in the SuPreMo-Akita software (Gjoni and Pollard 2024). With this tool, we ranked hundreds of de novo SVs (dnSVs) from autism spectrum disorder (ASD) individuals and their unaffected siblings based on predicted disruptions to nearby neuronal regulatory interactions. This revealed that putative cis-regulatory element interactions (CREints) are more disrupted by dnSVs from ASD probands versus unaffected siblings. We prioritized candidate variants that disrupt ASD CREints and validated our top-ranked locus using isogenic excitatory neurons with and without the dnSV, confirming accurate predictions of disrupted chromatin contacts. This study establishes disrupted genome folding as a potential genetic mechanism in ASD and provides a general strategy for prioritizing variants predicted to disrupt regulatory interactions across tissues.

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9. Hayward BE, Kim GY, Miller CJ, McCann C, Lowery MG, Wood RD, Usdin K. Repeat expansion in a Fragile X model is independent of double strand break repair mediated by Pol θ, Rad52, Rad54l or Rad54b. bioRxiv. 2024.

Microsatellite instability is responsible for the human Repeat Expansion Disorders. The mutation responsible differs from classical cancer-associated microsatellite instability (MSI) in that it requires the mismatch repair proteins that normally protect against MSI. LIG4, an enzyme essential for non-homologous end-joining (NHEJ), the major pathway for double-strand break repair (DSBR) in mammalian cells, protects against expansion in mouse models. Thus, NHEJ may compete with the expansion pathway for access to a common intermediate. This raises the possibility that expansion involves an NHEJ-independent form of DSBR. Pol θ, a polymerase involved in the theta-mediated end joining (TMEJ) DSBR pathway, has been proposed to play a role in repeat expansion. Here we examine the effect of the loss of Pol θ on expansion in FXD mouse embryonic stem cells (mESCs), along with the effects of mutations in Rad52 , Rad54l and Rad54b, genes important for multiple DSBR pathways. None of these mutations significantly affected repeat expansion. These observations put major constraints on what pathways are likely to drive expansion. Together with our previous demonstration of the protective effect of nucleases like EXO1 and FAN1, and the importance of Pol β, they suggest a plausible model for late steps in the expansion process.

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10. Ibáñez-Sandoval DN, Hidalgo-Balbuena AE, Velázquez Contreras R, Saderi N, Flores G, Rueda-Orozco PE, Ibáñez-Sandoval O. Striatal interneuron imbalance in a valproic acid-induced model of autism in rodents is accompanied by atypical somatosensory processing. eNeuro. 2024.

Autism spectrum disorder (ASD) is characterized by deficits in social interaction and communication, cognitive rigidity, and atypical sensory processing. Recent studies suggest that the basal ganglia, specifically the striatum (NSt), plays an important role in ASD. While striatal interneurons, including cholinergic (ChAT(+)) and parvalbumin-positive (PV(+)) GABAergic neurons, have been described to be altered in animal models of ASD, their specific contribution remains elusive. Here, we combined behavioral, anatomical, and electrophysiological quantifications to explore if interneuron balance could be implicated in atypical sensory processing in cortical and striatal somatosensory regions of rats subjected to a valproic acid (VPA) model of ASD. We found that VPA animals showed a significant decrease in the number of ChAT(+) and PV(+) cells in multiple regions (including the sensorimotor region) of the NSt. We also observed significantly different sensory-evoked responses at the single-neuron and population levels in both striatal and cortical regions, as well as cortico-striatal interactions. Therefore, selective elimination of striatal PV(+) neurons only partially recapitulated the effects of VPA, indicating that the mechanisms behind the VPA phenotype are much more complex than the elimination of a particular neural subpopulation. Our results indicate that VPA exposure induced significant histological changes in ChAT(+) and PV(+) cells accompanied by atypical sensory-evoked cortico-striatal population dynamics that could partially explain the sensory processing differences associated with ASD.Significance Statement One of the main characteristics of patients with autism spectrum disorder (ASD) is the hypo- or hyper-responses to sensory stimuli. Various studies indicate that a possible explanation for these atypical responses is an imbalance in excitation-inhibition modulated by different types of interneurons. In the present work, we provide evidence that a striatal imbalance in ChAT(+) and PV(+) levels could partly explain behavioral and somatosensory processing differences associated with the valproic acid-induced ASD model.

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11. Ibrahim A, Jackson D. Autism, Electrical Status Epilepticus in Sleep, and a Likely Pathogenic SEMA6B Variant. Pediatrics. 2025.

This case report describes a boy aged 8 years with autism spectrum disorder who was diagnosed with electrical status epilepticus in sleep (ESES) and found to have a likely pathogenic variant in the SEMA6B gene. The patient presented with developmental regression and cognitive decline. An electroencephalogram demonstrated continuous spike-and-wave discharges during sleep, a hallmark of ESES. Genetic testing identified a De Novo likely pathogenic variant in SEMA6B, a gene implicated in neurodevelopmental disorders and epilepsy. Although the association between SEMA6B mutations and ESES is not well established, this case suggests that the genetic variant may have contributed to the patient’s clinical presentation. This is the first reported instance of ESES being linked to a SEMA6B gene variant, highlighting the importance of genetic testing in similar cases. The findings could have significant implications for the understanding and management of ESES in autistic patients with behavioral difficulties. They also underscore the need for further research into the role of SEMA6B in epilepsy and neurodevelopmental disorders.

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12. Lacroix A, Bennetot-Deveria Y, Baciu M, Dutheil F, Magnon V, Gomot M, Mermillod M. Understanding cognitive flexibility in emotional evaluation in autistic males and females: the social context matters. Mol Autism. 2024; 15(1): 49.

BACKGROUND: Autistic individuals often have difficulty flexibly adjusting their behavior. However, laboratory experiments have yielded inconsistent results, potentially due to various influencing factors, which need to be examined in detail. This study aimed to investigate the hypothesis that the social content of stimuli could play a specific role in some of the flexibility challenges faced by autistic individuals. The second aim was to explore sex differences in this context. METHODS: We analyzed data from 256 adult participants (124 with autism), matched on age, gender, and sex, who performed an emotional shifting task involving unpredictable shifts between positive and negative stimuli. Additionally, the task included both social and non-social conditions. RESULTS: Our results revealed a larger switch cost in the social than in the non-social condition, and this was more pronounced in autistic than in non-autistic individuals. Furthermore, we observed that autistic females differed from autistic males in the non-social condition and from non-autistic females in the social condition. LIMITATIONS: The online nature of the study reduced the control over participant conditions. In addition, further studies are needed to investigate whether these results apply to the broader autism spectrum. CONCLUSIONS: Building on previous research demonstrating a greater switch cost in autistic than non-autistic individuals for socio-emotional stimuli, our study further extends these findings by highlighting that the social context, rather than the emotional nature of the stimuli alone, may play a significant role in the flexibility challenges faced by autistic individuals. Our findings also contribute to the literature on sex differences in autism.

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13. Lunsky Y, Balogh R, Chung H, Durbin A, Lai MC, Tint A, Weiss J, Isaacs B, Lin E. Repeated use of hospital-based services and delayed hospital discharges in a population-based cohort of autistic adults in Canada. Autism. 2024: 13623613241299285.

We know that autistic people have more health problems and are more likely to go to the emergency department and get hospitalized than other people, but we know less about the problems they have once they get to the hospital. In this study, we looked at all autistic adults in Ontario and compared them to adults who were not autistic and to adults who had other kinds of developmental disabilities to see who came back to the emergency department in the month after an emergency department visit, who got re-hospitalized in the month after being sent home from hospital, and who stayed in the hospital longer than they needed to because there was no place appropriate for them to go to. We found that both autistic males and females were more likely to have these things happen to them than the same age- and sex-matched adults who did not have developmental disabilities. We also found that adults with other kinds of developmental disabilities had similar problems to autistic people. This makes us think that we need to work harder to improve health care for autistic adults and adults with other developmental disabilities when they come to hospital. We also need to make community services work better, and work more closely with hospital services, so that people only come to hospital when they need to and that they can go home when they are ready.

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14. Möhrle D, Murari K, Rho JM, Cheng N. Vocal communication in asocial BTBR mice is more malleable by a ketogenic diet in juveniles than adults. Neuroscience. 2024; 561: 43-64.

Deficits in social communication and language development are a hallmark of autism spectrum disorder currently with no effective approaches to reduce the negative impact. Interventional studies using animal models have been very limited in demonstrating improved vocal communication. Autism has been proposed to involve metabolic dysregulation. Ketogenic diet (KD) is a metabolism-based therapy for medically intractable epilepsy, and its applications in other neurological conditions have been increasingly tested. However, how KD would affect vocal communication has not been explored. The BTBR mouse strain is widely used to model asocial phenotypes. They display robust and pronounced deficits in vocalization during social interaction, and have metabolic changes implicated in autism. We investigated the effects of KD on ultrasonic vocalizations (USVs) in juvenile and adult BTBR mice during male-female social encounters. After a brief treatment with KD, the number, spectral bandwidth, and much of the temporal structure of USVs were robustly closer to control levels in both juvenile and adult BTBR mice. Composition of call categories and transitioning between individual call subtypes were more effectively altered to more closely align with the control group in juvenile BTBR mice. Together, our data provide further support to the hypothesis that metabolism-based dietary intervention could modify disease expression, including core symptoms, in autism. Future studies should tease apart the molecular mechanisms of KD’s effects on vocalization.

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15. Parfenenko MA, Dantsev IS, Bochenkov SV, Kuramagomedova RG, Vinogradova NV, Afanaseva MP, Groznova OS, Voinova VI. Expansion of phenotypic and genotypic data in autism spectrum disorders due to variants in the CHD8 gene. Neurogenetics. 2024; 26(1): 4.

Autism spectrum disorders are a group of the most common disorders of neuropsychiatric development, characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns. This group of conditions frequently co-occurs with intellectual disability, epilepsy, attention-deficit hyperactivity disorder, connective tissue disorders and others. Among the most common molecular-genetic causes of autism spectrum disorders are pathogenic variants in the CHD8 gene. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 – a chromatin remodeler that regulates cellular proliferation and brain development in embryogenesis. 6 children and 1 adult (mother of 1 of the children) and were found to have clinically significant variants in CHD8 on whole genome sequencing (3 children and 1 adult had likely pathogenic variants, 3 children- variants of unknown significance). Their phenotype consisted of autism spectrum disorders, developmental delay, ataxia, overgrowth and other signs typically observed in patients with pathogenic variants in CHD8, as well as common comorbidities of autism spectrum disorders, such as attention-deficit hyperactivity disorder and connective tissue disorders. Additionally, 4 patients had hepatomegaly and 2- hyperbilirubinemia (1 had both) – clinical features have not been previously associated with pathogenic variants in CHD8. 2 patients also presented with cardiovascular abnormalities, primarily arrythmias and, in 1 case, cardiomyopathy- also uncharacteristic of patients with pathogenic variants in CHD8. Further research is required to determine the mechanisms underlying the abovementioned clinical features, which are likely carried out through complex interactions between CHD8 and other regulatory proteins.

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16. Pérez-Flores J, Torralvo-Suárez I, Nieto A. Assessing neuropsychological profiles in adolescent females with suspected autism spectrum disorder: a multiple case study. Appl Neuropsychol Child. 2024: 1-10.

This study evaluates the neuropsychological profiles of three adolescent females with suspected Autism Spectrum Disorder (ASD). The study was conducted at My Blue Side, a support organization in Southern Tenerife. The research included a detailed assessment using standardized neuropsychological tests to identify the neuropsychological characteristics associated with ASD in adolescent females. The primary objective was to delineate the neuropsychological profile of each participant and its relationship with their daily functioning. Three participants underwent a comprehensive neuropsychological assessment incorporating the Autism Diagnostic Interview-Revised (ADI-R), the Autonomous Scale for the Detection of Asperger Syndrome and High-Functioning Autism, the Wechsler Intelligence Scale for Children (WISC-V), the D2 test, Five-Digit Test (FDT), Spain-Complutense Verbal Learning Test (TAVCI), Rey Complex Figure (RCF) and Executive Functioning Questionnaire (EFECO). The study design aimed to provide a thorough understanding of each participant’s neuropsychological profile and its potential impact on their daily functioning. The results indicated significant ASD markers across the participants, with substantial variability in neuropsychological capabilities, particularly in working memory and executive functioning. These deficits impacted daily functioning and emotional regulation. The assessments also highlighted challenges in verbal and visual learning, as well as difficulties with spontaneous recall. These findings underscore the need for interventions to consider these neuropsychological characteristics and their relationship with the daily challenges faced by females with ASD and their families, beyond the core symptoms of the disorder.

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17. Rast JE, Koffer Miller KH, Bromberg J, Ventimiglia J, Anderson KA, Shea LL. Changes in Child Health Care, Health, and Caregiver Mental Health During the COVID-19 Pandemic in Children with Autism and Special Health Care Needs. Matern Child Health J. 2024.

PURPOSE: The COVID-19 pandemic and subsequent mitigation efforts impacted communities in many ways and placed immense strain on the health care system, impacting access to services. The purpose of this study was to examine changes in prevalence of child health care, child health, and caregiver and household health within children with autism and children with special health care needs (CSHCN) pre-pandemic to early pandemic years. METHODS: We examined data from the National Survey of Children’s Health to examine changes in child health care, child health, and caregiver and household health for autistic children and CSHCN from 2018 to 2021. RESULTS: About one-third of children with autism and CSHCN missed preventive checkups due to the COVID-19 pandemic and half had virtual care in 2021. Parents of children with autism had less help with care coordination in 2020 compared to previous years. In CSHCN prevalence of anxiety increased from 2018/2019 to 2021, with a concurrent increase in need for mental health care, this was not seen in children with autism. Finally, difficulty paying medical bills and for food was less common in 2020 and 2021 (compared to 2018/2019). CONCLUSIONS: The COVID-19 pandemic changed the healthcare landscape for everyone, including children with autism and CSHCN as highlighted in this study. Understanding the disruptions and how they impacted populations differently can be helpful in informing plans long-term emergency preparedness. This planning should involve disability inclusive policies, to ensure the most vulnerable groups retain health care access as needed.

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18. Reynolds M, Weisenberg J, Shinawi M, Jensen R. The DESSH Clinic: A New Multidisciplinary Clinic to Address the Complex Needs of Individuals with a Rare Genetic Disorder. Mo Med. 2024; 121(4): 304-9.

DeSanto-Shinawi (DESSH) syndrome is a rare autosomal dominant condition caused by pathogenic variants in the WAC gene. DESSH syndrome was first identified in 2015 in six patients, but has since been diagnosed in more than 200 individuals worldwide. Patients exhibit a variable degree of developmental delay (DD), intellectual disability (ID), hypotonia, gastrointestinal and eye abnormalities, epilepsy, behavioral difficulties, and recognizable facial features. In order to educate families and address the complex medical needs of the increasing number of patients with DESSH syndrome, we established a new multidisciplinary clinic at Washington University in St. Louis. The first clinic was held in September 2022 and attended by 15 patients and their families. Herein, we report the structure of the clinic and present the main clinical findings of these patients. This pilot experience highlights the utility of a multidisciplinary approach to evaluating individuals with rare genetic diseases and the value of collaborating with family support groups to establish multidisciplinary clinics for these disorders, and provides guidance for future clinic planning.

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19. Sivapalan S, Sivayokan B, Raveenthiran K, Sivayokan S. Sensory Issues and Their Impact Among Autistic Children: A Cross-Sectional Study in Northern Sri Lanka. Cureus. 2024; 16(10): e72130.

BACKGROUND: Sensory processing issues are among the key diagnostic criteria for autism spectrum disorder (ASD). As altered sensory processing causes autistic children to react differently to sensory experiences and has a profound impact on their development, affecting their learning ability, social interaction, and ability to adapt to a new environment, there is a need to recognize and address these issues in children diagnosed with ASD during assessments and interventions. This study aimed to identify the patterns of sensory issues and their impact, and selected correlates among autistic children attending a center for neurodevelopmental disorders in northern Sri Lanka. METHODS: This institution-based, descriptive, cross-sectional study was conducted at a center for neurodevelopmental disorders in Jaffna among 100 children diagnosed with ASD. The sociodemographic details of the child, and scores of the Childhood Autism Rating Scale second edition (CARS™ 2), Sensory Profile™ 2, and a locally developed Behavioral Checklist were extracted from the records available at the center. Data were analyzed using R statistical computing software (R Foundation for Statistical Computing, Vienna, Austria) using general linear models. RESULTS: All the children in this study had at least one sensory issue, with 50% having visual processing issues. The severity of ASD increased as auditory processing issues increased. Behavioral issues, in general, increased significantly with increasing auditory and visual processing issues. Repetitive behaviors significantly increased with increasing auditory processing issues, while problems with self-regulation increased significantly with increasing visual and movement processing issues. Conduct-related issues were found to increase significantly with increasing movement and visual processing issues, and attentional response issues were found to increase significantly with increasing auditory, visual, and touch processing issues. CONCLUSION: The high prevalence of sensory issues in autistic children and its impact on the severity of ASD and behavioral issues are reiterated in this study. These results emphasize the importance of including interventions targeting sensory issues with the routine therapy for ASD.

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20. Subramanian D, Eisenberg C, Huang A, Baek J, Naveed H, Komatireddy S, Shiflett MW, Tran TS, Santhakumar V. Dysregulation of neuropilin-2 expression in inhibitory neurons impairs hippocampal circuit development and enhances risk for autism-related behaviors and seizures. Mol Psychiatry. 2024.

Dysregulation of development, migration, and function of interneurons, collectively termed interneuronopathies, have been proposed as a shared mechanism for autism spectrum disorders (ASDs) and childhood epilepsy. Neuropilin-2 (Nrp2), a candidate ASD gene, is a critical regulator of interneuron migration from the median ganglionic eminence (MGE) to the pallium, including the hippocampus. While clinical studies have identified Nrp2 polymorphisms in patients with ASD, whether selective dysregulation of Nrp2-dependent interneuron migration contributes to pathogenesis of ASD and enhances the risk for seizures has not been evaluated. We tested the hypothesis that the lack of Nrp2 in MGE-derived interneuron precursors disrupts the excitation/inhibition balance in hippocampal circuits, thus predisposing the network to seizures and behavioral patterns associated with ASD. Embryonic deletion of Nrp2 during the developmental period for migration of MGE derived interneuron precursors (iCKO) significantly reduced parvalbumin, neuropeptide Y, and somatostatin positive neurons in the hippocampal CA1. Consequently, when compared to controls, the frequency of inhibitory synaptic currents in CA1 pyramidal cells was reduced while frequency of excitatory synaptic currents was increased in iCKO mice. Although passive and active membrane properties of CA1 pyramidal cells were unchanged, iCKO mice showed enhanced susceptibility to chemically evoked seizures. Moreover, iCKO mice exhibited selective behavioral deficits in both preference for social novelty and goal-directed learning, which are consistent with ASD-like phenotype. Together, our findings show that disruption of developmental Nrp2 regulation of interneuron circuit establishment, produces ASD-like behaviors and enhanced risk for epilepsy. These results support the developmental interneuronopathy hypothesis of ASD epilepsy comorbidity.

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21. Taherkhani T, Memari AH. Paradoxical relationship between cognitive abilities and camouflaging: Insights from ADHD and autism and its implications for neurodiversity research. Autism Res. 2024.

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22. Wang Q, Han Y, Hu Y, Li X, Liu J, Fang H, Li T, Chang Y, Yi L. Orienting to and away from the eyes in infants at high likelihood for autism when scanning faces. Autism Res. 2024.

This study employed eye-tracking technology to investigate the mechanisms underlying reduced gaze towards the eyes in infants at high likelihood (HL) for autism, specifically examining whether it results from avoidance triggered by heightened arousal when looking at the eyes or due to indifference to the eyes (i.e., unwilling to orient to the eyes). Infants at HL for autism and typically developing (TD) infants aged within 24 months were tested. In the experiment, participants’ gaze was initially guided to the eye or mouth region immediately before the onset of the face. Latency to orient away from the guided regions, latency to orient to the eyes, and the location of the secondary fixation following the onset of the face were measured. The results showed that: (1) The HL infants looked less at eyes than TD infants; (2) Compared with TD infants, HL infants oriented towards eyes more slowly after being guided to the mouth; (3) After being guided to the eyes, HL infants’ secondary fixation fell less in the eye region, and their latency to orient away from the eyes was also tended to be shorter. These results suggest that reduced eye-looking time was presented in HL infants, which was further explained by both eye avoidance and indifference to the eyes. Our study contributes theoretically to understanding the atypical face scanning pattern in autistic people and its related underlying mechanisms. Furthermore, our study provides important insights into the development of early screening tools and intervention protocols for autistic people.

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23. Zhou S, Chen Z, Liu Y. The relationship between autistic traits and problematic smartphone use in adolescents: The serial mediating role of anxiety and executive dysfunction. BMC Psychol. 2024; 12(1): 683.

BACKGROUND: Based on the Interaction of Person-Affect-Cognition-Execution (I-PACE) model, this study aimed to explore the relationship between autistic traits and problematic smartphone use (PSU) among Chinese adolescents and to examine the serial mediation effect of anxiety and executive dysfunction in the association between autistic traits and PSU. METHODS: The Autism-Spectrum Quotient, Smartphone Addiction Scale, the trait version of the State-Trait Anxiety Inventory, and Dysexecutive Questionnaire were administered to a sample comprising 412 senior high school students (average age = 17.05 years, SD = 0.65). Structural equation models were utilized to explore the simple and serial mediating role of anxiety and executive dysfunction played in the association between autistic traits and PSU. RESULTS: This study found that social rather than non-social autistic traits were positively associated with anxiety, executive dysfunction, and PSU. Furthermore, after controlling for gender, anxiety and executive dysfunction acted as sequential mediators in the connection between social autistic trait and PSU. However, non-social autistic trait did not predict anxiety, executive dysfunction, or PSU. CONCLUSION: This study supports the I-PACE model and deepens understanding of PSU formation. Furthermore, the findings underscore the importance of addressing social challenges faced by adolescents with high autistic traits, providing a viable potential intervention pathway to promote healthy smartphone use in this population.

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