1. O-8 | International experience of 10 zig Covered CP stent correction of Sinus Venosus ASD. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions. 2021; 97 Suppl 1: S7-s8.

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2. Aryal S, Longo F, Klann E. Genetic removal of p70 S6K1 corrects coding sequence length-dependent alterations in mRNA translation in fragile X syndrome mice. Proceedings of the National Academy of Sciences of the United States of America. 2021; 118(18).

Loss of the fragile X mental retardation protein (FMRP) causes fragile X syndrome (FXS). FMRP is widely thought to repress protein synthesis, but its translational targets and modes of control remain in dispute. We previously showed that genetic removal of p70 S6 kinase 1 (S6K1) corrects altered protein synthesis as well as synaptic and behavioral phenotypes in FXS mice. In this study, we examined the gene specificity of altered messenger RNA (mRNA) translation in FXS and the mechanism of rescue with genetic reduction of S6K1 by carrying out ribosome profiling and RNA sequencing on cortical lysates from wild-type, FXS, S6K1 knockout, and double knockout mice. We observed reduced ribosome footprint (RF) abundance in the majority of differentially translated genes in the cortices of FXS mice. We used molecular assays to discover evidence that the reduction in RF abundance reflects an increased rate of ribosome translocation, which is captured as a decrease in the number of translating ribosomes at steady state and is normalized by inhibition of S6K1. We also found that genetic removal of S6K1 prevented a positive-to-negative gradation of alterations in translation efficiencies (RF/mRNA) with coding sequence length across mRNAs in FXS mouse cortices. Our findings reveal the identities of dysregulated mRNAs and a molecular mechanism by which reduction of S6K1 prevents altered translation in FXS.

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3. Fielding-Gebhardt H, Bredin-Oja SL, Warren SF. Examination of the ADOS-2 Expressive Language Score in Fragile X Syndrome. American journal on intellectual and developmental disabilities. 2021; 126(3): 260-5.

The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high rates of autism symptomology. The ADOS-2 ELS showed strong convergent validity with multiple assessments of expressive language, receptive language, and nonverbal cognition. Divergent validity was demonstrated between the expressive language score and chronological age, symptoms of anxiety/depression, and rule-breaking behaviors. This expressive language score is a promising measure of expressive language ability that can be used in research when other language assessments are unavailable.

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4. Healy S, Pacanowski C, Kennedy L, Obrusnikova I. « This cage that I’m stuck inside »: Autistic adults’ perceptions of weight management, body weight, and body image. Autism : the international journal of research and practice. 2021; 25(7): 1985-98.

Our beliefs and feelings about our bodies and our body weight influence our weight management behaviors, such as physical activity and eating behaviors. These beliefs and feelings are largely shaped by how we interact with, and compare ourselves to, people in our lives. Due to the social traits associated with autism, autistic adults may have different perceptions of body weight, body image, and weight management than neurotypical adults. To explore this, for the first time, we interviewed 11 autistic adults. The participants’ perceptions can be summarized in four findings. First, the participants viewed overweight and obesity as just one part of their overall health. Participants described how their mental health and physical health, including overweight/obesity, were closely connected. Second, some traits related to autism made weight management difficult; for example, eating and physical activity were negatively impacted by social anxiety, sensory sensitivity, obsessiveness, and a strong desire for routine. Third, participants were generally dissatisfied with how they looked. This was primarily due to a disconnect between how they felt their body looked and how it actually looked in real life. Other people, including on social media, also negatively influenced how they perceived themselves. Fourth, and finally, participants described how they got most of their weight management-related information online. Medical professionals were frequently described as being unprepared to provide them assistance related to weight management.

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5. Hickey EJ, Stransky M, Kuhn J, Rosenberg JE, Cabral HJ, Weitzman C, Broder-Fingert S, Feinberg E. Parent stress and coping trajectories in Hispanic and non-Hispanic families of children at risk of autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(6): 1694-708.

Little is known about parent experiences throughout the diagnostic process for autism or how these parent experiences may help explain the disparities that exist between Hispanic and non-Hispanic families in time-to-diagnosis among children identified as at risk for autism. The current study examined trajectories of parenting stress, coping, and perceived family impact over time, throughout the autism diagnostic process among Hispanic and non-Hispanic families. Hispanic families reported lower levels of parenting stress, coping, and negative family impact across time. Further, there were differences in the change in use of coping and the amount of negative family impact reported between Hispanic and non-Hispanic parents over time. These differences shed light on the unique experiences and strengths of Hispanic families demonstrate. Interventions that leverage those strengths and focus on education, empowerment, and resilience might be particularly beneficial for Hispanic families and may also better inform work to increase resilience.

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6. Hooshmandi M, Truong VT, Fields E, Thomas RE, Wong C, Sharma V, Gantois I, Soriano Roque P, Chalkiadaki K, Wu N, Chakraborty A, Tahmasebi S, Prager-Khoutorsky M, Sonenberg N, Suvrathan A, Watt AJ, Gkogkas CG, Khoutorsky A. 4E-BP2-dependent translation in cerebellar Purkinje cells controls spatial memory but not autism-like behaviors. Cell reports. 2021; 35(4): 109036.

Recent studies have demonstrated that selective activation of mammalian target of rapamycin complex 1 (mTORC1) in the cerebellum by deletion of the mTORC1 upstream repressors TSC1 or phosphatase and tensin homolog (PTEN) in Purkinje cells (PCs) causes autism-like features and cognitive deficits. However, the molecular mechanisms by which overactivated mTORC1 in the cerebellum engenders these behaviors remain unknown. The eukaryotic translation initiation factor 4E-binding protein 2 (4E-BP2) is a central translational repressor downstream of mTORC1. Here, we show that mice with selective ablation of 4E-BP2 in PCs display a reduced number of PCs, increased regularity of PC action potential firing, and deficits in motor learning. Surprisingly, although spatial memory is impaired in these mice, they exhibit normal social interaction and show no deficits in repetitive behavior. Our data suggest that, downstream of mTORC1/4E-BP2, there are distinct cerebellar mechanisms independently controlling social behavior and memory formation.

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7. Hotez P. COVID vaccines: time to confront anti-vax aggression. Nature. 2021; 592(7856): 661.

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8. Iivonen AP, Kärkinen J, Yellapragada V, Sidoroff V, Almusa H, Vaaralahti K, Raivio T. Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2. European journal of endocrinology. 2021; 185(1): 57-66.

Patients with deletions on chromosome 9q31.2 may exhibit delayed puberty, craniofacial phenotype including cleft lip/palate, and olfactory bulb hypoplasia. We report a patient with congenital HH with anosmia (Kallmann syndrome, KS) and a de novo 2.38 Mb heterozygous deletion in 9q31.2. The deletion breakpoints (determined with whole-genome linked-read sequencing) were in the FKTN gene (9:108,331,353) and in a non-coding area (9:110,707,332) (hg19). The deletion encompassed six protein-coding genes (FKTN, ZNF462, TAL2, TMEM38B, RAD23B, and KLF4). ZNF462 haploinsufficiency was consistent with the patient’s Weiss-Kruszka syndrome (craniofacial phenotype, developmental delay, and sensorineural hearing loss), but did not explain his KS. In further analyses, he did not carry rare sequence variants in 32 known KS genes in whole-exome sequencing and displayed no aberrant splicing of 15 KS genes that were expressed in peripheral blood leukocyte transcriptome. The deletion was 1.8 Mb upstream of a KS candidate gene locus (PALM2AKAP2) but did not suppress its expression. In conclusion, this is the first report of a patient with Weiss-Kruszka syndrome and KS. We suggest that patients carrying a microdeletion in 9q31.2 should be evaluated for the presence of KS and KS-related features.

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9. Karalis V, Bateup HS. Current Approaches and Future Directions for the Treatment of mTORopathies. Developmental neuroscience. 2021; 43(3-4): 143-58.

The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds to an array of intra- and extracellular stimuli and in turn controls multiple cellular anabolic and catabolic processes. Aberrant mTOR activity is associated with numerous diseases, with particularly profound impact on the nervous system. mTOR is found in two protein complexes, mTOR complex 1 (mTORC1) and 2 (mTORC2), which are governed by different upstream regulators and have distinct cellular actions. Mutations in genes encoding for mTOR regulators result in a collection of neurodevelopmental disorders known as mTORopathies. While these disorders can affect multiple organs, neuropsychiatric conditions such as epilepsy, intellectual disability, and autism spectrum disorder have a major impact on quality of life. The neuropsychiatric aspects of mTORopathies have been particularly challenging to treat in a clinical setting. Current therapeutic approaches center on rapamycin and its analogs, drugs that are administered systemically to inhibit mTOR activity. While these drugs show some clinical efficacy, adverse side effects, incomplete suppression of mTOR targets, and lack of specificity for mTORC1 or mTORC2 may limit their utility. An increased understanding of the neurobiology of mTOR and the underlying molecular, cellular, and circuit mechanisms of mTOR-related disorders will facilitate the development of improved therapeutics. Animal models of mTORopathies have helped unravel the consequences of mTOR pathway mutations in specific brain cell types and developmental stages, revealing an array of disease-related phenotypes. In this review, we discuss current progress and potential future directions for the therapeutic treatment of mTORopathies with a focus on findings from genetic mouse models.

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10. Loubersac J, Michelon C, Ferrando L, Picot MC, Baghdadli A. Predictors of an earlier diagnosis of Autism Spectrum Disorder in children and adolescents: a systematic review (1987-2017). European child & adolescent psychiatry. 2021.

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder in which the first signs generally emerge at approximately 12 months of age but its diagnosis is feasible only from the age of 18 months. According to the literature, the average age of diagnosis ranges from 2.7 to 7.2 years, which raises the question of factors associated with early diagnosis as a condition for early intervention. In this systematic review, we aim to identify clinical, social, and environmental factors associated with the age at which the diagnosis of ASD is confirmed in children. A literature search was performed in the Pubmed, Web of Sciences, PsycInfo, and Cochrane databases. Among the 530 publications identified, 50 were selected according to the inclusion criteria. This review focuses on studies conducted in 21 countries using data collected over a period from 1987 to 2017. These studies were published before December 31st, 2019. The results suggest that the diagnosis of ASD occurs earlier if there is a delay in social communication or the presence of intellectual disability. There is a low level of evidence concerning associations between the age at diagnosis and sex, race, parental education, or socioeconomic status and accessibility to health care. Further studies using large and well-characterized data sets are needed to simultaneously explore clinical and socio-environmental factors involved in early diagnosis.

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11. Mazza M, Pino MC, Keller R, Vagnetti R, Attanasio M, Filocamo A, Le Donne I, Masedu F, Valenti M. Qualitative Differences in Attribution of Mental States to Other People in Autism and Schizophrenia: What are the Tools for Differential Diagnosis?. Journal of autism and developmental disorders. 2022; 52(3): 1283-98.

The differential diagnosis between schizophrenia spectrum disorders (SSD) and autism spectrum disorders (ASD) remains an important clinical question, because they have overlap in clinical diagnosis. This study explored the differences between ASD (n = 44) and SSD patients (n = 59), compared to typically developing peers (n = 63), in completing an advanced Theory of Mind (ToM) task. The outcome found several differences between groups. The SSD patients showed greater difficulty in understanding social scenarios, while ASD individuals understood the stories, but did not correctly identify the protagonist’s intention. The interesting aspect of the results is that some ToM stories are more informative about the mentalistic reasoning of the two clinical groups, namely, the stories that investigate pretend, persuasion, double bluff and ironic joke constructs.

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12. Phelps R, Van Scoyoc A, Marquardt M. Parental Misattribution of Environmental Stress Reaction Symptoms to Autism. Journal of developmental and behavioral pediatrics : JDBP. 2021; 42(4): 264-71.

OBJECTIVE: This research aims to characterize parental misattribution to autism of challenging child behaviors related to environmental stress. METHODS: To identify differences between parental concern about behavioral challenges and child diagnoses, researchers reviewed records of children assessed at a child development clinic (N = 50, mean age = 4.38), genetics clinic (N = 26, mean age = 4.59), and therapeutic preschool (N = 30, mean age = 3.75), comparing referral information with child diagnoses postassessment. Surveys of parental and teacher concerns regarding children at therapeutic preschool who were not referred for consultation (N = 49) were reviewed and compared with the referral population to assess for referral bias. RESULTS: A high rate of parental concern about autism/neurodevelopmental disabilities was found in therapeutic preschool referrals (63%) and the child development clinic (74%), with fewer concerns in the genetics clinic (19%), in contrast with substantially lower numbers ultimately diagnosed with autism spectrum disorder (13%, 32%, and 8%, respectively). Across clinics, parents demonstrated greater concern about autism than environmental stress. In all clinics, more children had symptoms related to environmental stress than referrals suggested. Seventy-seven percent of children in the therapeutic preschool, 30% in the child development clinic, and 47% in the genetics clinic were diagnosed with trauma and stressor-related disorders. The results from children not referred for consultation suggest that referral bias plays a role in this phenomenon because parents of these children express similar levels of concern about their child’s development (32%) and challenges related to environmental stressors (29%). CONCLUSION: The results suggest a tendency for parents seeking consultation to attribute to autism behavioral symptoms related to environmental stress.

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13. Phillips KG, Wishengrad JS, Houtenville AJ. Ambulatory Care Sensitive Conditions Among All-Payer Claimants With Intellectual and Developmental Disabilities. American journal on intellectual and developmental disabilities. 2021; 126(3): 203-15.

Inpatient hospitalizations for ambulatory care sensitive conditions (ACSC) among beneficiaries with and without intellectual and developmental disabilities (IDD) were examined using Medicaid and commercial claims from 2010-2014 in New Hampshire. IDD was defined with International Classification of Diseases, Ninth Edition, Clinical Modification (ICD-9-CM) codes using algorithms from the Centers for Medicare and Medicaid Services, and inpatient encounters were identified using the Healthcare Effectiveness Data and Information Set. In adjusted analyses, beneficiaries with IDD had more hospitalizations for ACSC than those without IDD in both insurance groups. Differences in patterns of ACSC prevalence, comorbidities, and hospital admissions between the commercially and Medicaid-insured groups show the value of using all-payer claims data, when possible, to understand health needs and health care utilization of insurance beneficiaries with IDD.

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14. Pomè A, Caponi C, Burr DC. Grouping-Induced Numerosity Biases Vary with Autistic-Like Personality Traits. Journal of autism and developmental disorders. 2022; 52(3): 1326-33.

Individuals with autism spectrum disorder are thought to have a more local than global perceptual style. We used a novel paradigm to investigate how grouping-induced response biases in numerosity judgments depend on autistic-like personality traits in neurotypical adults. Participants judged the numerosity of clouds of dot-pairs connected by thin lines, known to cause underestimation of numerosity. The underestimation bias correlated strongly with autism-spectrum quotient (r = 0.72, Bayes factor > 100), being weaker for participants with high autistic traits. As connecting dots probably activates global grouping mechanisms, causing dot-pairs to be processed as an integrated whole rather than as individual dots, the results suggest that these grouping mechanisms may be weaker in individuals self-reporting high levels of autistic-like traits.

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15. Rahi S, Gupta R, Sharma A, Mehan S. Smo-Shh signaling activator purmorphamine ameliorates neurobehavioral, molecular, and morphological alterations in an intracerebroventricular propionic acid-induced experimental model of autism. Human & experimental toxicology. 2021; 40(11): 1880-98.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disease characterized by cognitive and sensorimotor impairment. Numerous research findings have consistently shown that alteration of Smo-Shh (smoothened-sonic hedgehog) signaling during the developmental process plays a significant role in ASD and triggers neuronal changes by promoting neuroinflammation and apoptotic markers. Purmorphamine (PUR), a small purine-derived agonist of the Smo-Shh pathway, shows resistance to hippocampal neuronal cell oxidation and decreases neuronal cell death. The goal of this study was to investigate the neuroprotective potential of PUR in brain intoxication induced by intracerebroventricular-propionic acid (ICV-PPA) in rats, with a focus on its effect on Smo-Shh regulation in the brain of rats. In addition, we analyze the impact of PUR on myelin basic protein (MBP) and apoptotic markers such as Caspase-3, Bax (pro-apoptotic), and Bcl-2 (anti-apoptotic) in rat brain homogenates. Chronic ICV-PPA infusion was administered consecutively for 11 days to induce autism in rats. In order to investigate behavioral alterations, rats were tested for spatial learning in the Morris Water Maze (MWM), locomotive alterations using actophotometer, and beam crossing task, while Forced Swimming Test (FST) for depressive behavior. PUR treatment with 5 mg/kg and 10 mg/kg (i.p.) was administered from day 12 to 44. Besides cellular, molecular and neuroinflammatory analyses, neurotransmitter levels and oxidative markers have also been studied in brain homogenates. The results of this study have shown that PUR increases the level of Smo-Shh and restores the neurochemical levels, and potentially prevents morphological changes, including demyelination.

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16. Rozensztrauch A, Sebzda A, Śmigiel R. Clinical presentation of Rett syndrome in relation to quality of life and family functioning. The Journal of international medical research. 2021; 49(4): 3000605211007714.

OBJECTIVE: Rett syndrome (RTT) is a chronic condition that manifest in young children, with concomitant comorbidities such as respiratory problems, scoliosis, epilepsy, and malnutrition, which may affect children’s quality of life (QoL) and family functioning. The objective of this cross-sectional descriptive correlation study was to understand the clinical presentation of RTT in relation to QoL and family functioning. METHODS: We included 23 parents of children with RTT. In this study, we used the PedsQL™ Family Impact Module, the Pediatric Quality of Life Inventory 4.0 generic core scales (PedsQL™ 4.0), and an author-designed questionnaire to assess QoL and family functioning. RESULTS: A significant relationship was observed between PedsQL™ 4.0 score and child’s age in the physical functioning dimension. Children aged 8 to 12 years demonstrated significantly higher scores than those in the other age groups. Malnutrition in the child significantly affected functioning of the family in the family relationships dimension. Children receiving 5 hours of rehabilitation treatment a week had significantly higher QoL in the school functioning dimension. CONCLUSIONS: QOL in children with RTT, as perceived by their parents, is reduced. RTT has a significant negative correlation with family functioning.

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17. Sicherman N, Law K, Lipkin PH, Loewenstein G, Marvin AR, Buxbaum JD. Information Avoidance and Information Seeking Among Parents of Children With ASD. American journal on intellectual and developmental disabilities. 2021; 126(3): 249-59.

We estimated the effects of information avoidance and information seeking among parents of children diagnosed with autism spectrum disorder (ASD) on age of diagnosis. An online survey was completed by 1,815 parents of children with ASD. Children of parents who self-reported that they had preferred « not to know, » reported diagnoses around 3 months later than other children. Children of parents who raised concerns that they perceived as having been dealt with adequately reported diagnoses about 4 months earlier, but the children of parents who reported raising concerns repeatedly and felt that those concerns were dealt with inadequately were diagnosed over a year later. These findings suggest that failure of educational and healthcare professionals, in either substituting for parents who avoid information, or supporting those who seek information, can significantly delay the age of diagnosis.

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18. Sutton BM, Westerveld MF, Webster AA. Classroom Teachers’ Implementation of the Social Stations Intervention to Improve the Verbal Initiations and Responses of Students with Autism. Journal of autism and developmental disorders. 2022; 52(3): 1268-82.

Students with autism often show challenges in social communication, particularly in initiating and responding behaviors. While the classroom offers a natural context for peer interactions, few interventions are designed specifically for classroom settings. This study investigated the effects of a classroom-teacher implemented social communication intervention, known as Social Stations, on the initiating and responding behaviors of students with autism. The study was set in an inclusive primary school, with the teacher embedding the intervention into the student’s daily literacy lessons. All students with autism showed significant improvements in the targeted behaviors, with improvements maintained over time. This study suggests that social communication interventions can be implemented by teachers as part of a daily classroom program.

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19. Tang WYF, Fong KNK, Chung RCK. The Effects of Storytelling With or Without Social Contextual Information Regarding Eye Gaze and Visual Attention in Children with Autistic Spectrum Disorder and Typical Development: A Randomized, Controlled Eye-Tracking Study. Journal of autism and developmental disorders. 2022; 52(3): 1257-67.

This study examined the effects of storytelling with or without contextual information on children with autism spectrum disorder (ASD) and typical development (TD) using eye-tracker. They were randomized into two groups-the stories included and did not include social contextual information respectively. Training was delivered in groups, with eight sessions across four weeks, 30 min/session. Participants’ fixation duration, visit duration, and fixation count on human faces from 20 photos and a video were recorded. Our findings revealed that storytelling with social contextual information enhanced participants’ eye gazes on eyes/ faces in static information (photos) for both children with ASD and TD, but the same advantage could not be seen for children with ASD in regard to dynamic information (videos).Clinical Trial Registration Number (URL: http://www.clinicaltrials.gov ): NCT04587557.

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20. Türay S, Eröz R, Başak AN. A novel pathogenic variant in the 3′ end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?. Neurogenetics. 2021; 22(2): 127-32.

Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a recently described form of the large group of infantile hereditary lower motor neuron diseases (Teoh et al. 2017), resulting from biallelic damaging variants in the AGTPBP1 gene, first described by Shashi et al. in EMBO J 37(23):e100540, 2018. AGTPBP-related neurodegeneration is a severe neurodevelopmental disorder that progresses with global developmental delay and intellectual disability, often accompanied with peripheral nerve damage and lower motor degeneration and a fatal course in the early years of life. The encoded protein is ATP/GTP-Binding Protein1, also known as cytosolic carboxypeptidase 1 (CCP1) or nervous system nuclear protein induced by axotomy (NNA1). Here we report a consanguineous family with four offspring, two of whom are affected. The index patient is a 21-month-old male with global developmental delay and hypotonia. The proband’s 17-year-old sister, diagnosed with cerebral palsy, had severe hypotonia accompanied by motor and cognitive retardation. WES analysis revealed a novel homozygous c.3293G > A variant in the AGTPBP1 gene with high pathogenicity scores. Targeted Sanger sequencing confirmed the variant in both affected children and in heterozygous form in the parents. The affected siblings present with hypotonia and motor and cognitive retardation, in line with the studies previously reported. However, in our patients, no signs of cerebellar atrophy in cranial MRI were present, so the acronym CONDCA is not applicable; lower motor neuron findings were also absent. The matching and distinguishing aspects of our patients will add to the present literature and expand our understanding of this rare genetic neurodegenerative disease of early childhood.

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21. Wang M, Huang J, Liu M, Zhang D. Modeling dynamic characteristics of brain functional connectivity networks using resting-state functional MRI. Medical image analysis. 2021; 71: 102063.

Dynamic network analysis using resting-state functional magnetic resonance imaging (rs-fMRI) provides a great insight into fundamentally dynamic characteristics of human brains, thus providing an efficient solution to automated brain disease identification. Previous studies usually pay less attention to evolution of global network structures over time in each brain’s rs-fMRI time series, and also treat network-based feature extraction and classifier training as two separate tasks. To address these issues, we propose a temporal dynamics learning (TDL) method for network-based brain disease identification using rs-fMRI time-series data, through which network feature extraction and classifier training are integrated into the unified framework. Specifically, we first partition rs-fMRI time series into a sequence of segments using overlapping sliding windows, and then construct longitudinally ordered functional connectivity networks. To model the global temporal evolution patterns of these successive networks, we introduce a group-fused Lasso regularizer in our TDL framework, while the specific network architecture is induced by an ℓ(1)-norm regularizer. Besides, we develop an efficient optimization algorithm to solve the proposed objective function via the Alternating Direction Method of Multipliers (ADMM). Compared with previous studies, the proposed TDL model can not only explicitly model the evolving connectivity patterns of global networks over time, but also capture unique characteristics of each network defined at each segment. We evaluate our TDL on three real autism spectrum disorder (ASD) datasets with rs-fMRI data, achieving superior results in ASD identification compared with several state-of-the-art methods.

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22. Wright CM, Guter SJ, Cook EH. Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation. Journal of autism and developmental disorders. 2022; 52(3): 1408-11.

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23. Yao S, Zhou M, Zhang Y, Zhou F, Zhang Q, Zhao Z, Jiang X, Xu X, Becker B, Kendrick KM. Decreased homotopic interhemispheric functional connectivity in children with autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1609-20.

While several functional and structural changes occur in large-scale brain networks in autism spectrum disorder (ASD), reduced interhemispheric resting-state functional connectivity (rsFC) between homotopic regions may be of particular importance as a biomarker. ASD is an early-onset developmental disorder and neural alterations are often age-dependent. Although there is some evidence for homotopic interhemispheric rsFC alterations in language processing regions in ASD children, wider analyses using large data sets have not been performed. The present study, therefore, conducted a voxel-based homotopic interhemispheric rsFC analysis in 146 ASD and 175 typically developing children under-age 10 and examined associations with symptom severity in the autism brain imaging data exchange data sets. Given the role of corpus callosum (CC) in interhemispheric connectivity and reported CC volume changes in ASD we additionally examined whether there were parallel volumetric changes. Results demonstrated decreased homotopic rsFC in ASD children in the posterior cingulate cortex (PCC) and precuneus of the default mode network, the precentral gyrus of the mirror neuron system, and the caudate of the reward system. Homotopic rsFC of the PCC was associated with symptom severity. Furthermore, although no significant CC volume changes were found in ASD children, there was a significant negative correlation between the anterior CC volumes and homotopic rsFC strengths in the caudate. The present study shows that a reduced pattern of homotopic interhemispheric rsFC in ASD adults/adolescents is already present in children of 5-10 years old and further supports their potential use as a general ASD biomarker. LAY SUMMARY: Homotopic interhemispheric functional connectivity plays an important role in synchronizing activity between the two hemispheres and is altered in adults and adolescents with autism spectrum disorder (ASD). In the present study focused on children with ASD, we have observed a similar pattern of decreased homotopic connectivity, suggesting that alterations in homotopic interhemispheric connectivity may occur early in ASD and be a useful general biomarker across ages.

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24. Zheng S, Adams R, Taylor JL, Pezzimenti F, Bishop SL. Depression in independent young adults on the autism spectrum: Demographic characteristics, service use, and barriers. Autism : the international journal of research and practice. 2021; 25(7): 1960-72.

Depression is common among adults on the autism spectrum, but little is known about the extent to which these adults living in the community access diagnostic and treatment services for depression. To address this gap, we surveyed 315 adults on the autism spectrum on depression symptoms, diagnosis, and services. About half of the sample had scores on standard depression measures that suggested they were currently depressed (n = 147, 46.7%). Among the currently depressed, most of them had received a depression diagnosis from a professional. Depressed females were about 3.5 times more likely than depressed males to have a depression diagnosis. More than half of the currently depressed adults on the autism spectrum reported receiving depression treatment at the time of the study, while about two-thirds had previously received treatment. Those with a depression diagnosis were more likely to have received treatment, and those who had some education beyond high school were more likely to be currently receiving treatment. Financial and insurance issues were the most common barriers that adults reported in accessing treatment for depression.

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