1. Al-Mazidi S, Al-Ayadhi L, Alqahtany F, Abualnaja A, Alzarroug A, Alharbi T, Farhat K, AlMnaizel A, El-Ansary A. The possible role of sodium leakage channel localization factor-1 in the pathophysiology and severity of autism spectrum disorders. Sci Rep;2023 (Jun 16);13(1):9747.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social, stereotypical, and repetitive behaviors. Neural dysregulation was proposed as an etiological factor in ASD. The sodium leakage channel (NCA), regulated by NLF-1 (NCA localization factor-1), has a major role in maintaining the physiological excitatory function of neurons. We aimed to examine the level of NLF-1 in ASD children and correlate it with the severity of the disease. We examined the plasma levels of NLF-1 in 80 ASD and neurotypical children using ELISA. The diagnosis and severity of ASD were based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), Childhood Autism Rating Score, Social Responsiveness Scale, and Short Sensory Profile. Then, we compared the levels of NLF-1 with the severity of the disease and behavioral and sensory symptoms. Our results showed a significant decrease in the plasma levels of NLF-1 in ASD children compared to neurotypical children (p < 0.001). Additionally, NLF-1 was significantly correlated with the severity of the behavioral symptoms of ASD (p < 0.05). The low levels of NLF-1 in ASD children potentially affect the severity of their behavioral symptoms by reducing neuron excitability through NCA. These novel findings open a new venue for pharmacological and possible genetic research involving NCA in ASD children.

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2. Brugnaro BH, Fernandes G, Vieira FN, Pavão SL, Rocha N. Following 4 months of social distancing during COVID-19 Pandemic in Brazil did not change aspects of functioning in children and adolescents with developmental disabilities: A longitudinal study. J Intellect Disabil;2023 (Jun 16):17446295231184117.

The COVID-19 pandemic and its demands of social distancing have created challenges in the lives of children/adolescents with developmental disabilities and their families, which would change aspects of children’s functioning. The objetive of this study was to evaluate changes in some components of functioning of children/adolescents with disabilities following 4 months of social distancing during a period of high contamination rate in the year 2020 in Brazil. Participated 81 mothers of children/adolescents with disabilities, 3-17 years, most of them (80%) diagnosed with Down syndrome, cerebral palsy and autism spectrum disorder. Remote assessments of functioning’ aspects including IPAQ, YC-PEM/ PEM-C, Social Support Scale and PedsQL V.4.0. Wilcoxon tests compared the measures, with significance level <0.05. No significant changes in participant's functioning were identified. Social adjustments required to facing the pandemic during two points in time in the midst of the pandemic did not change the evaluated aspects of functioning in our sample of Brazilian.

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3. Fecteau SM, Trudel M, Champagne N, Picard F. Are all parental experiences equal?: Cluster analysis of salivary cortisol and perception of parental stress in mothers of children with autism spectrum disorder. Res Dev Disabil;2023 (Jun 14);139:104550.

Many parents of children with autism spectrum disorder (ASD) report high stress levels related to their parenting role. The experience of stress is reflected in physical symptoms and well-being, as observed by abnormal patterns of cortisol regulation. However, it may be a mistake to conceive parenthood as unilaterally stressful as diverse experiences are possible. Mothers of children with ASD provided salivary cortisol samples and self-rated parental stress. The area under the curve with respect to ground was calculated in regard to three daily collection time points. As a group, mothers reported average levels of parenting stress and flat daily cortisol output. The current age of the child and age at the time of diagnosis moderately predicted overall daily cortisol. Hierarchical clusters analysis identified four distinct profiles of stress regulation based on daily cortisol regulation and perception of parental stress. Groups did not differ based on the severity of symptoms related to autism or demographic information. We suggest that other variables, such as stress mediators and secondary stressors, may explain variability in stress regulation. Future research and intervention should perceive the parental experience as heterogeneous and focus on individualizing the support offered in light of diverse experiences.

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4. Kikuchi K, Michikawa T, Morokuma S, Hamada N, Suetsugu Y, Ikeda S, Nakahara K, Kato K, Ochiai M, Shibata E, Tsuji M, Shimono M, Kawamoto T, Ohga S, Kusuhara K. Sleep quality and temperament in association with autism spectrum disorder among infants in Japan. Commun Med (Lond);2023 (Jun 16);3(1):82.

BACKGROUND: Sleep problems and irritable temperaments are common among infants with autism spectrum disorder (ASD). The prospective association between such sleep problems and irritable temperaments and ASDs needs to be determined for elucidating the mechanism and exploring the future intervention study. Thus, in this study, we investigated whether sleep quality and temperament in 1-month-old infants are associated with the onset of ASD in 3-year-old children. We also assessed its sex-stratified associations. METHODS: We conducted a longitudinal study using data from 69,751 mothers and infants from a large-cohort study, the Japan Environment and Children’s Study. We examined the prospective association between infant sleep quality and temperament at 1 month of age and ASD diagnosis by 3 years of age. RESULTS: Here we show infants with longer daytime sleep have a higher risk of later ASD than those with shorter daytime sleep (risk ratio [RR]: 1.33, 95% confidence interval [CI]: 1.01-1.75). Infants who experienced intense crying have a higher risk of ASD than those who did not (RR: 1.31, 95% CI: 1.00-1.72). There is a difference in sex in the association between a bad mood and later ASD. In particular, female infants experiencing bad moods have a higher risk of ASD than others (RR: 3.59, 95% CI: 1.91-6.75). CONCLUSIONS: The study findings provide important information for future intervention to reduce the risk of future ASD.

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5. Niarchou M, Miller-Fleming T, Malow BA, Davis LK. The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records. J Neurodev Disord;2023 (Jun 16);15(1):18.

BACKGROUND: Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. METHODS: We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt’s de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries. RESULTS: Seven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10(-5)) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10(-10)), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10(-9)), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10(-5)). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood. DISCUSSION: Our findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers. CONCLUSIONS: Our study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings.

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6. Patil S, Awan KH, Licari FW. Breaking barriers: immersive virtual reality for dental treatment in autism spectrum children. Eur Arch Paediatr Dent;2023 (Jun 17)

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7. Riedelbauch S, Gaigg SB, Thiel T, Roessner V, Ring M. Examining a model of anxiety in autistic adults. Autism;2023 (Jun 16):13623613231177777.

Anxiety disorders are common in autism. Research studies have identified factors that influence anxiety in autism, such as difficulties with uncertain situations, difficulties understanding own emotions, differences in processing sensory input (related to our senses) and difficulties regulating emotions. To date, a few studies have considered the combination of these factors within the same sample. This study used structural equation modelling to test the contribution of these factors in autism. Autistic (n = 86) and non-autistic adults (n = 100) completed a battery of self-report questionnaires. Only when applied to each group separately, the broad predictions of the model were confirmed for the autistic group. The model confirmed that difficulties with uncertain situations and in regulating emotions play a central role in anxiety in autism. Difficulties understanding own emotions and differences in processing sensory input both contribute to anxiety indirectly through their respective interrelation with the other two factors (difficulties with uncertain situations and in regulating emotions). Importantly, the results imply that sensory processing differences contribute not only indirectly but also directly to individual differences in anxiety. For the non-autistic group, model fit could only be achieved after removing autism-related traits and sensory processing differences as predictors of anxiety. These results suggest that cause/development and expression of anxiety in autism partially overlap with what is observed in the general population except that sensory processing differences appear to play a relatively unique role in the context of autism.

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8. Ursini F, Ruscitti P, Addimanda O, Foti R, Raimondo V, Murdaca G, Caira V, Pigatto E, Cuomo G, Lo Gullo A, Cavazzana I, Campochiaro C, Naclerio C, De Angelis R, Ciaffi J, Mancarella L, Brusi V, Marchetti E, Motta F, Visentini M, Lorusso S, De Santis M, De Luca G, Massaro L, Olivo D, Pellegrini R, Francioso F, Luppino J, Di Cola I, Varcasia G, Caso F, Reta M, Dagna L, Selmi C, Iagnocco A, Giacomelli R, Iannone F, Ferri C. Inflammatory rheumatic diseases with onset after SARS-CoV-2 infection or COVID-19 vaccination: a report of 267 cases from the COVID-19 and ASD group. RMD Open;2023 (Jun);9(2)

OBJECTIVES: To better define the spectrum of new-onset post-COVID-19 and post-COVID-19 vaccine inflammatory rheumatic diseases (IRD) from a large multicentric observational study. METHODS: Consecutive cases of IRD encountered during a 12-month period and satisfying one of the following inclusion criteria: (a) onset of the rheumatic manifestations within 4 weeks from SARS-CoV-2 infection or (b) onset of the rheumatic manifestations within 4 weeks from the administration of one of the COVID-19 vaccines ws recruited. RESULTS: The final analysis cohort comprised 267 patients, of which 122 (45.2%) in the post-COVID-19 and 145 (54.8%) in the postvaccine cohort. Distribution of IRD categories differed between the two cohorts: the post-COVID-19 cohort had a higher percentage of patients classified as having inflammatory joint diseases (IJD, 52.5% vs 37.2%, p=0.013) while the post-vaccine cohort had a higher prevalence of patients classified as polymyalgia rheumatica (PMR, 33.1% vs 21.3%, p=0.032). No differences were detected in the percentage of patients diagnosed with connective tissue diseases (CTD 19.7% vs 20.7%, p=0.837) or vasculitis (6.6% vs 9.0%, p=0.467). Despite the short follow-up period, IJD and PMR patients’ response to first-line therapy was favourable, with both groups achieving a drop in baseline disease activity scores of ~30% and ~70% respectively. CONCLUSION: Our article reports the largest cohort published to date of new-onset IRD following SARS-CoV-2 infection or COVID-19 vaccines. Although causality cannot be ascertained, the spectrum of possible clinical manifestations is broad and includes IJD, PMR, CTD and vasculitis.

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