1. Aslam AR, Altaf MAB. A 10.13µJ/Classification 2-Channel Deep Neural Network Based SoC for Negative Emotion Outburst Detection of Autistic Children. IEEE transactions on biomedical circuits and systems. 2021; 15(5): 1039-52.

An electroencephalogram (EEG)-based non-invasive 2-channel neuro-feedback SoC is presented to predict and report negative emotion outbursts (NEOB) of Autistic patients. The SoC incorporates area-and-power efficient dual-channel Analog Front-End (AFE), and a deep neural network (DNN) emotion classification processor. The classification processor utilizes only the two-feature vector per channel to minimize the area and overfitting problems. The 4-layers customized DNN classification processor is integrated on-sensor to predict the NEOB. The AFE comprises two entirely shared EEG channels using sampling capacitors to reduce the area by 30%. Moreover, it achieves an overall integrated input-referred noise, NEF, and crosstalk of 0.55 µV(RMS), 2.71, and -79 dB, respectively. The 16 mm(2) SoC is implemented in 0.18 um 1P6M, CMOS process and consumes 10.13 μJ/classification for 2 channel operation while achieving an average accuracy of >85% on multiple emotion databases and real-time testing.

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2. Chen YL, Schneider M, Patten K. Exploring interpersonal and environmental factors of autistic adolescents’ peer engagement in integrated education. Autism : the international journal of research and practice. 2021: 13623613211046158.

Peer engagement is essential but often challenging for autistic students in integrated education, especially for adolescents. Although peer engagement is bidirectional and context-dependent, research has largely focused on individual characteristics rather than the interpersonal and environmental factors affecting peer engagement. This mixed-methods study examined peer interactions over a school year among 17 adolescents (seven were autistic) in an inclusive school club at a public middle school in the Northeastern United States. The study began with a quantitative phase identifying sessions in which each student was socially engaged with peers more or less often than usual for them. We then qualitatively compared the social interactions and contexts between sessions where each participant experienced high and low peer engagement. Thematic analysis revealed four themes regarding contextual supports and barriers to autistic peer engagement: (1) peer engagement is a participatory process where a student and their peer(s) navigate mutual understanding, shaped by both student and peer social characteristics, openness, and involvement; (2) student-peer synchronicity, such as shared interests or compatibility of social styles, was essential to autistic peer engagement; (3) peer engagement can be supported by activities facilitating joint engagement and exploration of mutual interests; (4) classroom interventions emphasizing strengths can support peer engagement, while normative behavioral standards without peer education on individual differences and diversity can perpetuate peers’ negative perceptions of autistic difficulties. The findings have implications for better inclusive practice to support autistic social participation by modifying the peer environments, activities, and classroom interventions.

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3. Clutterbuck RA, Shah P, Leung HS, Callan MJ, Gjersoe N, Livingston LA. Anthropomorphic tendencies in autism: A conceptual replication and extension of White and Remington (2019) and preliminary development of a novel anthropomorphism measure. Autism : the international journal of research and practice. 2022; 26(4): 940-50.

Anthropomorphism is the tendency to attribute human-like qualities (e.g. thoughts and feelings) to non-human entities (e.g. objects and weather systems). Research by White and Remington (2019) suggested that anthropomorphism is more common in autistic compared to neurotypical adults, which is interesting given that autistic individuals sometimes misunderstand the thoughts and feelings of other people. In this article, we re-examined the link between autism and anthropomorphism in a large sample of adults with varying degrees of autistic traits, with several important methodological advances on previous research. Across two studies, we found that individuals with more autistic traits reported greater anthropomorphic tendencies. As part of these analyses, we had to develop a new, refined measure of anthropomorphism, which showed better reliability and validity than the original measure. This measure will be useful in future autism-related research. Overall, advancing White and Remington’s study, these findings help us to better understand individual differences in socially relevant processes, including those that may be enhanced in autism (e.g. anthropomorphism).

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4. Ding M, Wang P, Cheng L, Cheng P, Yang H. The gene expression patterns of neuronal cells reveal the pathogenesis of autism. American journal of translational research. 2021; 13(8): 8977-87.

OBJECTIVE: To explore the effects of early comprehensive and specific behavioral interventions on improving social communication and attenuating anxiety in autism patients. METHODS: This study was based on the modular comprehensive analysis method and explored the neurotransmitter conduction mechanism in the pathogenesis of autism. We downloaded autism-related data from the Gene Expression Omnibus (GEO) database and performed a differential analysis, a co-expression Network Analysis (WGCNA) analysis, a GO function, and a KEGG pathway enrichment analysis. Finally, we predicted the non-coding RNAs (ncRNAs) and transcription factors (TFs) that regulate the module on the basis of hypergeometric testing. RESULTS: We obtained five co-expression modules, in which the active regulatory effects of the MTA3, PHB2, TNXB, DCTN2, and RBM23 genes in the dysfunction modules were obtained. The module genes were predominantly involved in biological processes and significantly regulated the mRNA monitoring and calcium signaling pathways. In addition, we identified a prominent regulation effect of the ncRNA and TF pivots on the dysfunction modules. CONCLUSIONS: This study deciphered a comprehensive network of key genes involved in autism, and it reveals the main dysfunction modules, the latent regulatory factors, and the driver genes for autism, contributing to our further understanding of the mechanisms of autism neuronal conduction disorders.

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5. Dorol-Beauroy-Eustache O, Mishara BL. Systematic review of risk and protective factors for suicidal and self-harm behaviors among children and adolescents involved with cyberbullying. Preventive medicine. 2021; 152(Pt 1): 106684.

Cyberbullying is associated with increased risk of suicidal and self-harm behaviors in children and adolescents. However, no review to date has explored factors that exacerbate and mitigate this relationship. This systematic review concerns research on factors that influence the impact of cyberbullying on suicidal and self-harm behaviors. Four bibliographic databases were explored and references in included articles were searched. We identified 727 articles and retained 66 that met inclusion criteria. Research has identified multiple risk factors which have been associated with increased suicide risk in general (mental health problems, substance abuse, loneliness, stress, sexual orientation/gender identity issues and violent behaviors). Others risk factors more specific to cyberbullying were: Autism Spectrum Disorder, Intellectual and Developmental Disorders, obesity, having asthma and severity of cyberbullying. Fewer studies concern protective factors. School connectedness, restrictive style of parenting, parental support, life satisfaction, having a healthy diet, personal skills and having family dinners were associated with less risk of suicidal and self-harm behaviors following cyberbullying. These protective factors suggest prevention strategies to reduce the impacts of cyberbullying by teaching better personal skills, promoting school social connections and proposing family interventions. More research is needed including exploration of the differential impacts of different forms of cyberbullying, and evaluations of the impacts of programs to increase personal skills, improve family relationships and foster school connectedness to reducing suicidal and self-harm behaviors in this vulnerable population.

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6. Erbay MF, Karayağmurlu A. Two siblings with autism spectrum disorder and two different genetic abnormalities: paternal 16p11.2 microdeletion and maternal 17q12 microduplication. Psychiatric genetics. 2021; 31(6): 246-9.

Etiopathogenesis of autism spectrum disorder (ASD) is highly heterogeneous. Genetic factors play a major role in the etiology of ASD, and 16p11.2 microdeletion is one of the best-known genetic abnormalities thought to be strongly linked to ASD. Conversely, 17q12 microduplication is observed relatively rarely, yet it is reported that 17q12 recurrent duplication also results in a predisposition to ASD. Additionally, 16p11.2 microdeletion is characterized by developmental delay, intellectual disability, ASD and seizures, while 17q12 recurrent duplication is thought to be related to intellectual disability, seizures, eye or vision problems and, rarely, cardiac and renal anomalies. It also has been linked to ASD, schizophrenia, aggression and self-injury. This paper presents two different genetic abnormalities and their relations to ASD. Two siblings were studied; in one of the siblings, maternally originated 17q12 duplication was identified, and paternally originated 16p11.2 microdeletion was identified in the other sibling. To the best of the authors’ knowledge, the present paper is a rare case report which shows the coexistence of 17q12 duplication, clubfoot deformity and ASD as well as 16p11.2 microdeletion, spina bifida occulta and ASD.

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7. Fink JJ, Schreiner JD, Bloom JE, James J, Baker DS, Robinson TM, Lieberman R, Loew LM, Chamberlain SJ, Levine ES. Hyperexcitable Phenotypes in Induced Pluripotent Stem Cell-Derived Neurons From Patients With 15q11-q13 Duplication Syndrome, a Genetic Form of Autism. Biological psychiatry. 2021; 90(11): 756-65.

BACKGROUND: Chromosome 15q11-q13 duplication syndrome (Dup15q) is a neurogenetic disorder caused by duplications of the maternal copy of this region. In addition to hypotonia, motor deficits, and language impairments, patients with Dup15q commonly meet the criteria for autism spectrum disorder and have a high prevalence of seizures. It is known from mouse models that synaptic impairments are a strong component of Dup15q pathophysiology; however, cellular phenotypes that relate to seizures are less clear. The development of patient-derived induced pluripotent stem cells provides a unique opportunity to study human neurons with the exact genetic disruptions that cause Dup15q. METHODS: Here, we explored electrophysiological phenotypes in induced pluripotent stem cell-derived neurons from 4 patients with Dup15q compared with 6 unaffected control subjects, 1 patient with a 15q11-q13 paternal duplication, and 3 patients with Angelman syndrome. RESULTS: We identified several properties of Dup15q neurons that could contribute to neuronal hyperexcitability and seizure susceptibility. Compared with control neurons, Dup15q neurons had increased excitatory synaptic event frequency and amplitude, increased density of dendritic protrusions, increased action potential firing, and decreased inhibitory synaptic transmission. Dup15q neurons also showed impairments in activity-dependent synaptic plasticity and homeostatic synaptic scaling. Finally, Dup15q neurons showed an increased frequency of spontaneous action potential firing compared with control neurons, in part due to disruption of KCNQ2 potassium channels. CONCLUSIONS: Together, these data point to multiple electrophysiological mechanisms of hyperexcitability that may provide new targets for the treatment of seizures and other phenotypes associated with Dup15q.

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8. Gatford NJF, Deans PJM, Duarte RRR, Chennell G, Sellers KJ, Raval P, Srivastava DP. Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size. Human molecular genetics. 2022; 31(5): 674-91.

The cell-adhesion proteins neuroligin-3 and neuroligin-4X (NLGN3/4X) have well described roles in synapse formation. NLGN3/4X are also expressed highly during neurodevelopment. However, the role these proteins play during this period is unknown. Here we show that NLGN3/4X localized to the leading edge of growth cones where it promoted neuritogenesis in immature human neurons. Super-resolution microscopy revealed that NLGN3/4X clustering induced growth cone enlargement and influenced actin filament organization. Critically, these morphological effects were not induced by autism spectrum disorder (ASD)-associated NLGN3/4X variants. Finally, actin regulators p21-activated kinase 1 and cofilin were found to be activated by NLGN3/4X and involved in mediating the effects of these adhesion proteins on actin filaments, growth cones and neuritogenesis. These data reveal a novel role for NLGN3 and NLGN4X in the development of neuronal architecture, which may be altered in the presence of ASD-associated variants.

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9. Harris K, Lamy M, Sorter M, Frye C, Terhune L, Erickson CA, Ruschman G, Dominick KC. Letter to the Editor: Chlorpromazine-Induced Skin Pigmentation in a Pediatric Patient. Journal of child and adolescent psychopharmacology. 2021; 31(7): 516-7.

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10. Hirosawa T, An KM, Soma D, Shiota Y, Sano M, Kameya M, Hino S, Naito N, Tanaka S, Yaoi K, Iwasaki S, Yoshimura Y, Kikuchi M. Epileptiform discharges relate to altered functional brain networks in autism spectrum disorders. Brain communications. 2021; 3(3): fcab184.

Many individuals with autism spectrum disorders have comorbid epilepsy. Even in the absence of observable seizures, interictal epileptiform discharges are common in individuals with autism spectrum disorders. However, how these interictal epileptiform discharges are related to autistic symptomatology remains unclear. This study used magnetoencephalography to investigate the relation between interictal epileptiform discharges and altered functional brain networks in children with autism spectrum disorders. Instead of particularly addressing individual brain regions, we specifically examine network properties. For this case-control study, we analysed 70 children with autism spectrum disorders (52 boys, 18 girls, 38-92 months old) and 19 typically developing children (16 boys, 3 girls, 48-88 months old). After assessing the participants’ social reciprocity using the Social Responsiveness Scale, we constructed graphs of functional brain networks from frequency band separated task-free magnetoencephalography recordings. Nodes corresponded to Desikan-Killiany atlas-based 68 brain regions. Edges corresponded to phase lag index values between pairs of brain regions. To elucidate the effects of the existence of interictal epileptiform discharges on graph metrics, we matched each of three pairs from three groups (typically developing children, children with autism spectrum disorders who had interictal epileptiform discharges and those who did not) in terms of age and sex. We used a coarsened exact matching algorithm and applied adjusted regression analysis. We also investigated the relation between social reciprocity and the graph metric. Results show that, in children with autism spectrum disorders, the average clustering coefficient in the theta band was significantly higher in children who had interictal epileptiform discharges. Moreover, children with autism spectrum disorders who had no interictal epileptiform discharges had a significantly lower average clustering coefficient in the theta band than typically developing children had. However, the difference between typically developing children and children with autism spectrum disorder who had interictal epileptiform discharges was not significant. Furthermore, the higher average clustering coefficient in the theta band corresponded to severe autistic symptoms in children with autism spectrum disorder who had interictal epileptiform discharges. However, the association was not significant in children with autism spectrum disorders who had no interictal epileptiform discharge. In conclusion, results demonstrate that alteration of functional brain networks in children with autism spectrum disorders depends on the existence of interictal epileptiform discharges. Interictal epileptiform discharges might ‘normalize’ the deviation of altered brain networks in autism spectrum disorders, increasing the clustering coefficient. However, when the effect exceeds tolerance, it actually exacerbates autistic symptoms.

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11. Imataka G, Yui K, Shiko Y, Kawasaki Y, Sasaki H, Shiroki R, Yoshihara S. Urinary and Plasma Antioxidants in Behavioral Symptoms of Individuals With Autism Spectrum Disorder. Frontiers in psychiatry. 2021; 12: 684445.

The balance between antioxidant capacity and oxidative stress-induced free radicals may be crucial in the pathophysiological development factor of autism spectrum disorder (ASD). We measured the following urinary and plasma biomarker levels of oxidative stress and antioxidants. As urinary biomarkers, (1) hexanoyl-lysine (HEL), which is a new biomarker of oxidative stress, (2) the total antioxidant capacity (TAC), and (3) 8-hydroxy-2′-deoxyguanosine (8-OHdG), as a product of oxidative modifications to DNA; and the plasma levels of (4) the antioxidant protein superoxide dismutase (SOD), which is the crucial defense again oxygen reactive species, and (5) transferrin and (6) ceruloplasmin, which are biomarkers of iron and copper neurotransmission and oxidant-antioxidant systems. We examined the relationship between these urinary and plasma biomarkers and behavioral symptoms in 19 individuals with ASD (mean age, 10.8 ± 5.2 years) and 10 age-matched healthy controls (mean age, 14.2 ± 7.0 years). Behavioral symptoms were estimated using the Aberrant Behavior Checklist (ABC). Urinary TAC levels were significantly lower, whereas urinary HEL levels were significantly increased in the ASD group as compared with the control group. The five ABC subscale and total scores were significantly raised in the autism group than in the control group. The results of a linear regression analysis revealed that plasma SOD levels may be a more accurate predictor of differences in ABC scores between individuals with ASD and control individuals. The present study firstly revealed the important findings that the cooperation between the urinary antioxidant TAC and plasma SOD levels may contribute to the ABC subscale scores of stereotypy. Urinary TAC activity and antioxidant protein SOD may be associated with incomplete mineral body store and antioxidant-related transcription factor and browning reactions. Consequently, a critical imbalance between TAC urinary levels and plasma SOD levels may be an important contributor to autistic behavioral symptoms.

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12. Kang YQ, Teo CM, Tan ML, Aw MM, Chan YH, Chong SC. Feeding difficulties in Asian children with autism spectrum disorder. Pediatrics and neonatology. 2022; 63(1): 48-56.

BACKGROUND: To characterize the nature and severity of feeding difficulties in Asian young children with Autism Spectrum Disorders (ASD) and identify potential predictors of poorer feeding outcomes. METHODS: Cross sectional study of children aged 1-7 years with ASD. Parents completed the following: demographic information, brief autism mealtime behavior inventory, aberrant behavior checklist (ABC), behavioral pediatrics feeding assessment scale (BPFAS) and caregiver feeding style questionnaire. Additional information (medical data, cognitive and developmental assessment results, e.g., Autism Diagnostic Observation Schedule Second Edition, Autism Diagnostic Interview, Revised, Vineland Adaptive Behaviour Scales, etc.) were subsequently obtained from electronic medical records retrospectively by one of the study team members. RESULTS: Of the 67 children, 28.4% had feeding difficulties (high BPFAS total frequency score). Caregiver feeding styles were authoritarian (34.8%) or indulgent (39.4%). Child characteristics did not significantly predict for the severity of feeding difficulties. Univariate analysis revealed that authoritarian feeding style (p = 0.001) and ABC hyperactivity score (p = 0.006) were significantly associated with BPFAS severity score. Multivariate analysis revealed that ABC hyperactivity score remained significantly associated with BPFAS severity score after controlling for all other ABC subscale scores. A final regression model including all child characteristics and ABC scores did not reveal any significant predictors of BPFAS total frequency score (R2 = 0.557). CONCLUSION: Our findings suggest an association between hyperactivity, authoritarian feeding style and feeding difficulties. Children with ASD who have significant hyperactivity behaviors in the context of parents with an authoritarian feeding style should be actively screened for problematic feeding behaviors.

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13. Lewis LF, Schirling H, Beaudoin E, Scheibner H, Cestrone A. Exploring the Birth Stories of Women on the Autism Spectrum. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN. 2021; 50(6): 679-90.

OBJECTIVE: To explore birth stories of autistic women to understand how they make sense of the experience of childbirth. DESIGN: Narrative analysis. SETTING: Online interviews. PARTICIPANTS: Sixteen women on the autism spectrum shared 19 birth stories. METHODS: Participants were recruited from online autism forums and were invited to share their birth stories via online asynchronous interviews. Using Burke’s approach to narrative analysis, we identified five elements within each story, including Scene (when/where), Agents (who), Act (what), Agency (how), and Purpose (why). We explored parts of the narratives where two or more elements were out of balance with each other. RESULTS: Tension most often occurred when actions taken by the health care team (Act) were out of balance with their approach to care (Agency), which left participants feeling that their concerns were minimized, their wishes were ignored, and they were left out of critical communication and education. Participants also struggled when their own autistic traits (Agent), such as sensory sensitivities, were out of balance with the birth environment (Scene), which impaired their ability to communicate with providers and participate in the birth. CONCLUSION: Poor communication, untreated pain, and sensory overload dominated the birth narratives of participants. Nurses should trust women’s reports of pain and anxiety because autistic women may appear calm even when in severe distress. Environmental adjustments, such as dimming the lights, can help minimize sensory overload. Nurses need to provide thorough and nonjudgmental education about the birth process to ensure that autistic women feel safe and in control and do not withdraw from care.

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14. Ma X, Gu H, Zhao J. Atypical gaze patterns to facial feature areas in autism spectrum disorders reveal age and culture effects: A meta-analysis of eye-tracking studies. Autism research : official journal of the International Society for Autism Research. 2021; 14(12): 2625-39.

Children and adults with autism spectrum disorder (ASD) often present with atypical gaze patterns to others’ faces, a finding substantiated throughout the literature. Yet, a quantification of atypical gaze patterns to different facial regions (e.g., eyes versus mouth) in ASD remains controversial. Also few study has investigated how age and culture impacted the pattern of gaze abnormalities in ASD. This research therefore conducted a meta-analysis of eye-tracking studies to evaluate age and culture effect on atypical gaze patterns of face processing in ASD. A total of 75 articles (91 studies) and 4209 individuals (ASD: 2027; controls: 2182) across all age ranges (i.e., childhood through to adulthood) from both Eastern and Western cultures were included in this meta-analysis. Individuals with ASD yielded shorter fixation durations to the eyes than individuals without ASD. Group differences in the time spent fixating on the eyes were not modulated by age, but affected by culture. Effect size in the eastern culture was larger than that in the western culture. In contrast, group differences on time spent looking at the mouth were not significant, but changed with age and modulated by culture. Relative to the neurotypical controls, Western individuals with ASD spent more time looking at the mouth from school age, whereas Eastern individuals with ASD did not gaze longer on mouth until adulthood. These results add to the body of evidence supporting atypical gaze behaviors to eyes in ASD and provide new insights into a potential mouth compensation strategy that develops with age in ASD. LAY SUMMARY: Individuals with autism spectrum disorder (ASD) often show atypical gaze patterns when looking at others’ faces compared to neurotypical individuals. This paper examines the role of age and culture on pattern of gaze abnormalities in individuals with ASD. Results show that reduction of gaze on eyes in ASD is stable across all ages and cultures, while increase of gaze on mouth emerges as individuals with ASD get older. The findings provide a developmental insight to the gaze patterns on the autism spectrum across culture.

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15. Malik I, Tseng YJ, Wright SE, Zheng K, Ramaiyer P, Green KM, Todd PK. SRSF protein kinase 1 modulates RAN translation and suppresses CGG repeat toxicity. EMBO molecular medicine. 2021; 13(11): e14163.

Transcribed CGG repeat expansions cause neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS). CGG repeat RNAs sequester RNA-binding proteins (RBPs) into nuclear foci and undergo repeat-associated non-AUG (RAN) translation into toxic peptides. To identify proteins involved in these processes, we employed a CGG repeat RNA-tagging system to capture repeat-associated RBPs by mass spectrometry in mammalian cells. We identified several SR (serine/arginine-rich) proteins that interact selectively with CGG repeats basally and under cellular stress. These proteins modify toxicity in a Drosophila model of FXTAS. Pharmacologic inhibition of serine/arginine protein kinases (SRPKs), which alter SRSF protein phosphorylation, localization, and activity, directly inhibits RAN translation of CGG and GGGGCC repeats (associated with C9orf72 ALS/FTD) and triggers repeat RNA retention in the nucleus. Lowering SRPK expression suppressed toxicity in both FXTAS and C9orf72 ALS/FTD model flies, and SRPK inhibitors suppressed CGG repeat toxicity in rodent neurons. Together, these findings demonstrate roles for CGG repeat RNA binding proteins in RAN translation and repeat toxicity and support further evaluation of SRPK inhibitors in modulating RAN translation associated with repeat expansion disorders.

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16. Marra PM, Parascandolo S, Fiorillo L, Cicciù M, Cervino G, D’Amico C, De Stefano R, Salerno P, Esposito U, Itro A. Dental Trauma in Children with Autistic Disorder: A Retrospective Study. BioMed research international. 2021; 2021: 3125251.

BACKGROUND: The oral health care of autistic children is elaborated; they often fail to define dental problems, and a family-centered approach can be useful to improve and intercept these disorders. AIM: To assess the oral status of autistic children, comparing it with no autistic patients. MATERIALS AND METHODS: A retrospective study analyzed the oral health status of 70 children, 35 with autism and 35 without the disorder. Conditions assessed were dental trauma type, periodontal tissue injuries, soft tissue lip injuries, different treatments carried out, associated soft tissue findings and disorders, and the long-term management. All patients (≤15 years of age) were chosen consecutively. RESULTS: Females (57%) suffered more traumatic injuries than males (43%) in the autistic group, whereas males affected by dental trauma (54%) are predominant in the control group. The enamel fracture was the main finding among the dental trauma types in both groups followed by enamel/dentin/pulp fracture (31%), root fracture (11%), and avulsions (3%) in the autistic group and by avulsions (20%), root fracture (11%), and enamel/dentin/pulp fracture (6%) in the control group. The comparison of all variables of the two groups showed a statistically significant difference (P < 0.012). The lower lip was statistically more injured than the upper lip (P < 0.005). CONCLUSIONS: The composite restorative technique was the most common approach carried out; the long-term evaluation, when possible, was predominantly managed through root canal therapy in the control group (81%), and root canal therapy (50%) and tooth extraction (50%) in the sample group.

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17. McLean KJ, Eack SM, Bishop L. The Impact of Sleep Quality on Quality of Life for Autistic Adults. Research in autism spectrum disorders. 2021; 88.

BACKGROUND: Although research demonstrates that autistic children are at risk of poor sleep quality, very little is known about sleep quality and its impact on quality of life in autistic adults. We investigated the relationships between sleep quality, perceived stress, and quality of life for autistic adults. METHOD: Data were prospectively collected from both autistic adults (N=40) and non-autistic adults (N=24). Sleep Quality was measured using the Pittsburgh Sleep Quality Index, Perceived Stress was measured using the Perceived Stress Scale, and Quality of Life was measured using the Brief Version of the World Health Organization Quality of Life Scale. We ran OLS regression models to examine the association between study group, perceived stress, sleep quality, and quality of life. We tested for main effects of study group (i.e., autistic or non-autistic), sleep quality, and perceived stress, adjusting for demographic characteristics. Then, we tested the interaction between study group and sleep quality. Finally, we tested a three-way interaction between group, sleep quality, and perceived stress. RESULTS: Autistic adults reported worse sleep quality compared to non-autistic adults. Poorer sleep quality was significantly associated with lower quality of life for all participants in the study. Findings from the three-way interaction indicated that higher perceived stress further exacerbated the relationship between poorer sleep quality and lower quality of life for autistic adults. CONCLUSIONS: These findings suggest that interventions that target both sleep quality and stress could effectively improve quality of life for autistic adults.

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18. Polfuss M, Forseth B, Schoeller DA, Huang CC, Moosreiner A, Papanek PE, Sawin KJ, Zvara K, Bandini L. Accuracy of body mass index in categorizing weight status in children with intellectual and developmental disabilities. Journal of pediatric rehabilitation medicine. 2021; 14(4): 621-9.

PURPOSE: To identify the accuracy of Body Mass Index (BMI) to categorize body weight in a sample of children with spina bifida and Down syndrome as compared to typically developing peers. METHODS: A secondary analysis of 32 children with spina bifida, Down syndrome or no chronic illness. A calculated BMI was plotted on the Centers for Disease Control and Prevention age- and sex-specific BMI growth charts to determine each child’s weight status. Percentage of body fat, obtained by labeled water, was plotted on two different body fat percentile reference curves, one derived from a whole body measure (DXA) of body fat and one by skin-fold measure. Differences in weight categories between calculated BMI and body fat percentile curves were reported. RESULTS: The calculated BMI for children with a disability had significant misclassifications as a screening tool for body fat when compared to children without a disability. Misclassifications were increased with the body fat percentile reference curve derived from skin-fold measures and for children who primarily used a wheelchair. CONCLUSION: The current recommendation to use BMI to categorize weight status is not useful for many children with disabilities. Further research to identify an alternative pragmatic strategy is necessary.

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19. Soorya LV, Fogg L, Ocampo E, Printen M, Youngkin S, Halpern D, Kolevzon A, Lee S, Grodberg D, Anagnostou E. Neurocognitive Outcomes from Memantine: A Pilot, Double-Blind, Placebo-Controlled Trial in Children with Autism Spectrum Disorder. Journal of child and adolescent psychopharmacology. 2021; 31(7): 475-84.

Objective: Studies interrogating therapeutics which alter the excitation-inhibition balance in the treatment of autism spectrum disorder (ASD) have reported mixed results on social and behavioral outcomes. Methods: The aim of this randomized, double-blind placebo-controlled pilot trial was to evaluate neurocognitive effects of memantine over a 24-week trial. Twenty-three children ages 6-12 years old with ASD were randomized to memantine or placebo. Primary outcomes included measures of apraxia and expressive language with evaluations at midpoint (week 12) and endpoint (week 24). Secondary outcomes included memory and adaptive behavior measures. Exploratory outcomes included changes in overall cognitive functioning and behavior (e.g., Aberrant Behavior Checklist). Results: Results suggest that memantine was well-tolerated. Dropout rates were high across groups with only 14 participants completing the 6-month trial. Memantine was not associated with improvements in apraxia and expressive language. Treatment with memantine was associated with improvements in verbal recognition memory as measured by the Narrative Memory-Recognition (NEPSY-II) (F = 5.05, p = .03). In addition, exploratory analyses of changes in Intelligence quotient (IQ) suggest improvements on verbal IQ (d = 1.8). Conclusions: Results suggest future studies of memantine in ASD may benefit from shifting treatment targets from social and behavioral outcomes to exploration of effects of memantine on cognition, potentially as an adjunct to learning and educational interventions. ClinicalTrials.gov: NCT01372449.

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20. Soria-Ortiz MB, Reyes-Ortega P, Martínez-Torres A, Reyes-Haro D. A Functional Signature in the Developing Cerebellum: Evidence From a Preclinical Model of Autism. Frontiers in cell and developmental biology. 2021; 9: 727079.

Autism spectrum disorders (ASD) are pervasive neurodevelopmental conditions detected during childhood when delayed language onset and social deficits are observed. Children diagnosed with ASD frequently display sensorimotor deficits associated with the cerebellum, suggesting a dysfunction of synaptic circuits. Astroglia are part of the tripartite synapses and postmortem studies reported an increased expression of the glial fibrillary acidic protein (GFAP) in the cerebellum of ASD patients. Astroglia respond to neuronal activity with calcium transients that propagate to neighboring cells, resulting in a functional response known as a calcium wave. This form of intercellular signaling is implicated in proliferation, migration, and differentiation of neural precursors. Prenatal exposure to valproate (VPA) is a preclinical model of ASD in which premature migration and excess of apoptosis occur in the internal granular layer (IGL) of the cerebellum during the early postnatal period. In this study we tested calcium wave propagation in the IGL of mice prenatally exposed to VPA. Sensorimotor deficits were observed and IGL depolarization evoked a calcium wave with astrocyte recruitment. The calcium wave propagation, initial cell recruitment, and mean amplitude of the calcium transients increased significantly in VPA-exposed mice compared to the control group. Astrocyte recruitment was significantly increased in the VPA model, but the mean amplitude of the calcium transients was unchanged. Western blot and histological studies revealed an increased expression of GFAP, higher astroglial density and augmented morphological complexity. We conclude that the functional signature of the IGL is remarkably augmented in the preclinical model of autism.

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21. Türkyilmaz A, Sager SG, Topcu B, Kaplan AT, Günbey HP, Akin Y. Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome. Clinical dysmorphology. 2022; 31(1): 45-9.

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22. Whitehouse AJO, Varcin KJ, Pillar S, Billingham W, Alvares GA, Barbaro J, Bent CA, Blenkley D, Boutrus M, Chee A, Chetcuti L, Clark A, Davidson E, Dimov S, Dissanayake C, Doyle J, Grant M, Green CC, Harrap M, Iacono T, Matys L, Maybery M, Pope DF, Renton M, Rowbottam C, Sadka N, Segal L, Slonims V, Smith J, Taylor C, Wakeling S, Wan MW, Wray J, Cooper MN, Green J, Hudry K. Effect of Preemptive Intervention on Developmental Outcomes Among Infants Showing Early Signs of Autism: A Randomized Clinical Trial of Outcomes to Diagnosis. JAMA pediatrics. 2021; 175(11): e213298.

IMPORTANCE: Intervention for individuals with autism spectrum disorder (ASD) typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date. OBJECTIVE: To determine the efficacy of a preemptive intervention for ASD beginning during the prodromal period. DESIGN, SETTING, AND PARTICIPANTS: This 2-site, single rater-blinded randomized clinical trial of a preemptive intervention vs usual care was conducted at 2 Australian research centers (Perth, Melbourne). Community sampling was used to recruit 104 infants aged 9 to 14 months showing early behaviors associated with later ASD, as measured by the Social Attention and Communication Surveillance-Revised. Recruitment occurred from June 9, 2016, to March 30, 2018. Final follow-up data were collected on April 15, 2020. INTERVENTIONS: Infants were randomized on a 1:1 ratio to receive either a preemptive intervention plus usual care or usual care only over a 5-month period. The preemptive intervention group received a 10-session social communication intervention, iBASIS-Video Interaction to Promote Positive Parenting (iBASIS-VIPP). Usual care comprised services delivered by community clinicians. MAIN OUTCOMES AND MEASURES: Infants were assessed at baseline (approximate age, 12 months), treatment end point (approximate age, 18 months), age 2 years, and age 3 years. Primary outcome was the combined blinded measure of ASD behavior severity (the Autism Observation Scale for Infants and the Autism Diagnostic Observation Schedule, second edition) across the 4 assessment points. Secondary outcomes were an independent blinded clinical ASD diagnosis at age 3 years and measures of child development. Analyses were preregistered and comprised 1-tailed tests with an α level of .05. RESULTS: Of 171 infants assessed for eligibility, 104 were randomized; 50 infants (mean [SD] chronological age, 12.40 [1.93] months; 38 boys [76.0%]) received the iBASIS-VIPP preemptive intervention plus usual care (1 infant was excluded after randomization), and 53 infants (mean [SD] age, 12.38 [2.02] months; 32 boys [60.4%]) received usual care only. A total of 89 participants (45 in the iBASIS-VIPP group and 44 in the usual care group) were reassessed at age 3 years. The iBASIS-VIPP intervention led to a reduction in ASD symptom severity (area between curves, -5.53; 95% CI, -∞ to -0.28; P = .04). Reduced odds of ASD classification at age 3 years was found in the iBASIS-VIPP group (3 of 45 participants [6.7%]) vs the usual care group (9 of 44 participants [20.5%]; odds ratio, 0.18; 95% CI, 0-0.68; P = .02). Number needed to treat to reduce ASD classification was 7.2 participants. Improvements in caregiver responsiveness and language outcomes were also observed in the iBASIS-VIPP group. CONCLUSIONS AND RELEVANCE: Receipt of a preemptive intervention for ASD from age 9 months among a sample of infants showing early signs of ASD led to reduced ASD symptom severity across early childhood and reduced the odds of an ASD diagnosis at age 3 years. TRIAL REGISTRATION: http://anzctr.org.au identifier: ACTRN12616000819426.

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