Pubmed du 07/11/21
1. Daini E, Hagmeyer S, De Benedictis CA, Cristóvão JS, Bodria M, Ross AM, Raab A, Boeckers TM, Feldmann J, Gomes CM, Zoli M, Vilella A, Grabrucker AM. S100B dysregulation during brain development affects synaptic SHANK protein networks via alteration of zinc homeostasis. Translational psychiatry. 2021; 11(1): 562.
Autism Spectrum Disorders (ASD) are caused by a combination of genetic predisposition and nongenetic factors. Among the nongenetic factors, maternal immune system activation and zinc deficiency have been proposed. Intriguingly, as a genetic factor, copy-number variations in S100B, a pro-inflammatory damage-associated molecular pattern (DAMP), have been associated with ASD, and increased serum S100B has been found in ASD. Interestingly, it has been shown that increased S100B levels affect zinc homeostasis in vitro. Thus, here, we investigated the influence of increased S100B levels in vitro and in vivo during pregnancy in mice regarding zinc availability, the zinc-sensitive SHANK protein networks associated with ASD, and behavioral outcomes. We observed that S100B affects the synaptic SHANK2 and SHANK3 levels in a zinc-dependent manner, especially early in neuronal development. Animals exposed to high S100B levels in utero similarly show reduced levels of free zinc and SHANK2 in the brain. On the behavioral level, these mice display hyperactivity, increased stereotypic and abnormal social behaviors, and cognitive impairment. Pro-inflammatory factors and zinc-signaling alterations converge on the synaptic level revealing a common pathomechanism that may mechanistically explain a large share of ASD cases.
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2. Koukouriki E, Athanasopoulou E, Andreoulakis E. Feelings of Loneliness and Social Dissatisfaction in Siblings of Children with Autism Spectrum Disorders: The Role of Birth Order and Perceived Social Support. Journal of autism and developmental disorders. 2021.
Loneliness has been associated with several adverse psychosocial outcomes in childhood and adolescence. The present study aimed to investigate feelings of loneliness and social dissatisfaction in school-aged typically-developing (TD) siblings of children with an autism spectrum disorder (ASD). For this purpose, 118 siblings of children with ASD and 115 siblings of TD children and one of their parents participated in this study. Siblings of ASD-children reported higher levels of loneliness and social dissatisfaction than the controls. The hierarchical multiple regressions performed revealed that those feelings were inversely associated with being the first-born and with specific aspects of social support as perceived by the parent. The younger siblings of ASD-children seem to be in need of certain interventions beyond social support.
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3. Liu F, Scheeren AM, Grove R, Hoekstra RA, Wang K, Guo D, Wang C, Begeer S. Exploring Cultural Differences in Autistic Traits: A Factor Analytic Study of Children with Autism in China and the Netherlands. Journal of autism and developmental disorders. 2021.
Autism spectrum disorders are diagnosed globally, but recognition, interpretation and reporting may vary across cultures. To compare autism across cultures it is important to investigate whether the tools used are conceptually equivalent across cultures. This study evaluated the factor structure of the parent-reported Autism Spectrum Quotient Short Form in autistic children from China (n = 327; 3 to 17 years) and the Netherlands (n = 694; 6 to 16 years). Confirmatory factor analysis did not support the two-factor hierarchical model previously identified. Exploratory factor analysis indicated culturally variant factor structures between China and the Netherlands, which may hamper cross-cultural comparisons. Several items loaded onto different factors in the two samples, indicating substantial variation in parent-reported autistic traits between China and the Netherlands.
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4. Nuske HJ, Goodwin MS, Kushleyeva Y, Forsyth D, Pennington JW, Masino AJ, Finkel E, Bhattacharya A, Tan J, Tai H, Atkinson-Diaz Z, Bonafide CP, Herrington JD. Evaluating commercially available wireless cardiovascular monitors for measuring and transmitting real-time physiological responses in children with autism. Autism research : official journal of the International Society for Autism Research. 2022; 15(1): 117-30.
Commercially available wearable biosensors have the potential to enhance psychophysiology research and digital health technologies for autism by enabling stress or arousal monitoring in naturalistic settings. However, such monitors may not be comfortable for children with autism due to sensory sensitivities. To determine the feasibility of wearable technology in children with autism age 8-12 years, we first selected six consumer-grade wireless cardiovascular monitors and tested them during rest and movement conditions in 23 typically developing adults. Subsequently, the best performing monitors (based on data quality robustness statistics), Polar and Mio Fuse, were evaluated in 32 children with autism and 23 typically developing children during a 2-h session, including rest and mild stress-inducing tasks. Cardiovascular data were recorded simultaneously across monitors using custom software. We administered the Comfort Rating Scales to children. Although the Polar monitor was less comfortable for children with autism than typically developing children, absolute scores demonstrated that, on average, all children found each monitor comfortable. For most children, data from the Mio Fuse (96%-100%) and Polar (83%-96%) passed quality thresholds of data robustness. Moreover, in the stress relative to rest condition, heart rate increased for the Polar, F(1,53) = 135.70, p < 0.001, ηp(2) = 0.78, and Mio Fuse, F(1,53) = 71.98, p < 0.001, ηp(2) = 0.61, respectively, and heart rate variability decreased for the Polar, F(1,53) = 13.41, p = 0.001, ηp(2) = 0.26, and Mio Fuse, F(1,53) = 8.89, p = 0.005, ηp(2) = 0.16, respectively. This feasibility study suggests that select consumer-grade wearable cardiovascular monitors can be used with children with autism and may be a promising means for tracking physiological stress or arousal responses in community settings. LAY SUMMARY: Commercially available heart rate trackers have the potential to advance stress research with individuals with autism. Due to sensory sensitivities common in autism, their comfort wearing such trackers is vital to gathering robust and valid data. After assessing six trackers with typically developing adults, we tested the best trackers (based on data quality) in typically developing children and children with autism and found that two of them met criteria for comfort, robustness, and validity.
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5. Shah R, Absoud M. The failure of provision for neurodiverse children during the covid-19 pandemic. BMJ (Clinical research ed). 2021; 375: n2711.
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6. Specchio N, Di Micco V, Trivisano M, Ferretti A, Curatolo P. The epilepsy-autism spectrum disorder phenotype in the era of molecular genetics and precision therapy. Epilepsia. 2022; 63(1): 6-21.
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic encephalopathy, and early interventions targeting social and cognitive deficits can have positive effects on developmental outcome. However, early diagnosis of ASD among infants with epilepsy is complicated by variability in clinical phenotypes. Commonality in both biological and molecular mechanisms have been suggested between ASD and epilepsy, such as occurs with tuberous sclerosis complex. This review summarizes the current understanding of causal mechanisms between epilepsy and ASD, with a particularly genetic focus. Hypothetical explanations to support the conjugation of the two conditions include abnormalities in synaptic growth, imbalance in neuronal excitation/inhibition, and abnormal synaptic plasticity. Investigation of the probable genetic basis has implemented many genes, although the main risk supports existing hypotheses in that these cluster to abnormalities in ion channels, synaptic function and structure, and transcription regulators, with the mammalian target of rapamycin (mTOR) pathway and « mTORpathies » having been a notable research focus. Experimental models not only have a crucial role in determining gene functions but are also useful instruments for tracing disease trajectory. Precision medicine from gene therapy remains a theoretical possibility, but more contemporary developments continue in molecular tests to aid earlier diagnoses and better therapeutic targeting.
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7. Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. Journal of neurodevelopmental disorders. 2021; 13(1): 53.
BACKGROUND: Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. METHODS: Individuals age 3-21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). RESULTS: There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4-88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0-29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r(s) = – 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r(s) = – 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. CONCLUSIONS: The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning.
