1. Christi RA, Roy D, Heung R, Flake E. Impact of Respite Care Services Availability on Stress, Anxiety and Depression in Military Parents who have a Child on the Autism Spectrum. J Autism Dev Disord;2022 (Aug 27):1-15.

OBJECTIVE: Parenting an autistic child can affect a family’s well-being. Finding resources is critical. This pilot study looked at respite’s impact on parental stress, anxiety, and depression in military families and demographic factors associated with presence of respite care. METHOD: Participants completed three surveys on anonymous basis, including two standardized surveys measuring parental stress and anxiety/depression. Data analysis used Chi-square test and regression analysis. RESULTS: Parents receiving respite reported less stress and anxiety/depression. Respite utilization was associated with absence of comorbid conditions in child and other variables. Predictor variables for parental stress and anxiety/depression included presence of comorbid conditions in child. CONCLUSION: Respite care may be linked to lower parental stress, anxiety, and depression, but more study is needed.

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2. Hou S, Liu N, Zou J, Yin X, Liu X, Zhang S, Chen J, Wei Z. Young children with autism show atypical prefrontal cortical responses to humanoid robots: An fNIRS study. Int J Psychophysiol;2022 (Aug 28);181:23-32.

BACKGROUND: Previous behavioral studies have found that children with autism spectrum disorder (ASD) show greater interest in humanoid robots than in humans. However, the neural mechanism underlying this is not clear. This study compared brain activation patterns between children with ASD and neurotypical children while they watched videos with robots and humans. METHOD: We recruited 45 children with ASD and 53 neurotypical children aged 4-6 years and recorded their neural activity in the dorsolateral prefrontal cortex (DLPFC) using a functional near-infrared spectroscopy (fNIRS) device when the two groups interacted with a robot or a human in a video. RESULTS: First, neural activity in the right DLPFC in children with ASD was significantly lower in the robot condition than in the human condition. Neural activity in the right DLPFC in children with ASD was also significantly lower than that of neurotypical children in the robot condition. Second, the neural activity in the left DLPFC between the human and robot conditions was negatively correlated in children with ASD, while it was positively correlated in neurotypical children. Moreover, neural activity in the left DLPFC in children with ASD was significantly correlated with the ADOS scores in both conditions. CONCLUSIONS: While neurotypical children showed comparable neural activity to humanoid robots and human beings, the children with ASD showed significantly different neural activity under those two conditions. Children with ASD may need more selective attention resources for human interaction than for robot interaction. It is also much more difficult for children with ASD to neglect the attraction of robots. Neural activity of the left DLPFC of children with ASD is correlated with their symptoms, which maybe a possible indicator for early diagnosis. Neural activity of the right DLPFC guided their atypical reactions and engagements with robots. Our study contributes to the current understanding of the neural mechanisms responsible for the different behavioral reactions in children with ASD toward robots and humans.

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3. Hu W, Zhao M, Lian J, Li D, Wen J, Tan J. Lithium Cholesterol Sulfate: A Novel and Potential Drug for Treating Alzheimer’s Disease and Autism Spectrum Disorder. CNS Neurol Disord Drug Targets;2022 (Aug 25)

BACKGROUND AND OBJECTIVE: Recent studies have shown that lithium treatment can reduce symptoms of Alzheimer’s disease (AD) and Autism Spectrum Disorder (ASD). However, the present lithium salts clinically available have serious short-term and long-term side effects which requires frequent monitoring of blood chemistry and plasma lithium levels so as to avoid toxicity. Consequently, there is a demand for a safer and more effective lithium formulation to treat these diseases. METHODS: Hence, we firstly synthesized lithium cholesterol sulfate (LiCS) and compared its pharmacological effects with that of lithium chloride (LiCl) and sodium cholesterol sulfate (NaCS) on markers of neurodegenerative disease in cell cultures. RESULTS: LiCS was more potent than LiCl in increasing inhibitory GSK3β (Ser9) phosphorylation (pGSK3β) in both CHO and SH-SY5Y cells. These agents dose-dependently increased pGSK3β, starting at 10 µM for LiCS and 60µM for LiCl and maximally by approximately 100% at 60 µM for LiCS and 1.25 mM for LiCl, without altering total GSK3β levels. In HEK293/tau cells, LiCS reduced tau (Thr231) phosphorylation (ptau) starting at 10 µM and maximally by 63% at 40 µM without altering total tau levels, but ptau levels were not altered by LiCl at any dose between 60 µM and 1.25 mM. In BV2 cells, LiCS and LiCl decreased LPS-induced TNFα levels, starting at 20 µM for LiCS and 5 mM for LiCl, and maximally by approximately 30% at 80 µM for LiCS and 20 mM for LiCl. NaCS at any dose between 5 and 90 µM did not alter pGSK3β, ptau or LPS-induced TNFα. CONCLUSION: LiCS may become a new drug with good pharmacological potential for the treatment of neurodegenerative disorders such as AD and ASD by allowing lithium to more readily access intracellular pathological processes.

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4. Kim H, Kim D, Cho Y, Kim K, Roh JD, Kim Y, Yang E, Kim SS, Ahn S, Kang H, Bae Y, Kim E. Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming. Nat Commun;2022 (Aug 27);13(1):5051.

Autism spectrum disorder is characterized by early postnatal symptoms, although little is known about the mechanistic deviations that produce them and whether correcting them has long-lasting preventive effects on adult-stage deficits. ARID1B, a chromatin remodeler implicated in neurodevelopmental disorders, including autism spectrum disorder, exhibits strong embryonic- and early postnatal-stage expression. We report here that Arid1b-happloinsufficient (Arid1b(+/-)) mice display autistic-like behaviors at juvenile and adult stages accompanied by persistent decreases in excitatory synaptic density and transmission. Chronic treatment of Arid1b(+/-) mice with fluoxetine, a selective serotonin-reuptake inhibitor, during the first three postnatal weeks prevents synaptic and behavioral deficits in adults. Mechanistically, these rescues accompany transcriptomic changes, including upregulation of FMRP targets and normalization of HDAC4/MEF2A-related transcriptional regulation of the synaptic proteins, SynGAP1 and Arc. These results suggest that chronic modulation of serotonergic receptors during critical early postnatal periods prevents synaptic and behavioral deficits in adult Arid1b(+/-) mice through transcriptional reprogramming.

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5. Kong C, Chen A, Ludyga S, Herold F, Healy S, Zhao M, Taylor A, Müller NG, Kramer AF, Chen S, Tremblay MS, Zou L. Associations between meeting 24-hour movement guidelines and quality of life among children and adolescents with autism spectrum disorder. J Sport Health Sci;2022 (Aug 24)

BACKGROUND: The Canadian 24-hour movement behavior (24-HMB) guidelines suggest that a limited amount of screen time use, an adequate level of physical activity (PA), and sufficient sleep duration are beneficial for ensuring and optimizing the health and quality of life (QoL) of children and adolescents. However, this topic has yet to be examined for children and adolescents with autism spectrum disorder (ASD) specifically. The aim of this cross-sectional observational study was to examine the associations between meeting 24-HMB guidelines and several QoL-related indicators among a national sample of American children and adolescents with ASD. METHODS: Data were taken from the 2020 National Survey of Children’s Health dataset. Participants (n = 956) aged 6-17 years and currently diagnosed with ASD were included. The exposure of interest was adherence to the 24-HMB guidelines. Outcomes were QoL indicators, including learning interest/curiosity, repeating grades, adaptive ability, victimization by bullying, and behavioral problems. Categorical variables were described with unweighted sample counts and weighted percentages. Age, sex, race, preterm birth status, medication, behavioral treatment, household poverty level, and the educational level of the primary caregivers were included as covariates. Odds ratio (OR) and 95% confidence interval (95%CI) were used to present the strength of association between adherence to 24-HMB guidelines and QoL-related indicators. RESULTS: Overall, 452 participants (45.34%) met 1 of the 3 recommendations, 216 (22.65%) met 2 recommendations, whereas only 39 participants (5.04%) met all 3 recommendations. Compared with meeting none of the recommendations, meeting both sleep duration and PA recommendations (OR = 3.92, 95%CI: 1.63-9.48, p < 0.001) or all 3 recommendations (OR = 2.11, 95%CI: 1.03-4.35, p = 0.04) was associated with higher odds of showing learning interest/curiosity. Meeting both screen time and PA recommendations (OR = 0.15, 95%CI: 0.04-0.61, p < 0.05) or both sleep duration and PA recommendations (OR = 0.24, 95%CI: 0.07-0.87, p < 0.05 was associated with lower odds of repeating any grades. With respect to adaptive ability, participants who met only the PA recommendation of the 24-HMB were less likely to have difficulties dressing or bathing (OR = 0.11, 95%CI: 0.02-0.66, p < 0.05) than those who did not. For participants who met all 3 recommendations (OR = 0.38, 95%CI: 0.15-0.99, p = 0.05), the odds of being victimized by bullying was lower. Participants who adhered to both sleep duration and PA recommendations were less likely to present with severe behavioral problems (OR = 0.17, 95%CI: 0.04-0.71, p < 0.05) than those who did not meet those guidelines. CONCLUSION: Significant associations were found between adhering to 24-HMB guidelines and selected QoL indicators. These findings highlight the importance of maintaining a healthy lifestyle as a key factor in promoting and preserving the QoL of children with ASD.

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6. Prany W, Patrice C, Franck D, Fabrice W, Mahdi M, Pierre D, Christian M, Jean-Marc G, Fabian G, Francis E, Jean-Marc B, Bérengère GG. EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism. J Neurodev Disord;2022 (Aug 27);14(1):47.

BACKGROUND: Autism spectrum disorder (ASD) is associated with atypical neural activity in resting state. Most of the studies have focused on abnormalities in alpha frequency as a marker of ASD dysfunctions. However, few have explored alpha synchronization within a specific interest in resting-state networks, namely the default mode network (DMN), the sensorimotor network (SMN), and the dorsal attention network (DAN). These functional connectivity analyses provide relevant insight into the neurophysiological correlates of multimodal integration in ASD. METHODS: Using high temporal resolution EEG, the present study investigates the functional connectivity in the alpha band within and between the DMN, SMN, and the DAN. We examined eyes-closed EEG alpha lagged phase synchronization, using standardized low-resolution brain electromagnetic tomography (sLORETA) in 29 participants with ASD and 38 developing (TD) controls (age, sex, and IQ matched). RESULTS: We observed reduced functional connectivity in the ASD group relative to TD controls, within and between the DMN, the SMN, and the DAN. We identified three hubs of dysconnectivity in ASD: the posterior cingulate cortex, the precuneus, and the medial frontal gyrus. These three regions also presented decreased current source density in the alpha band. CONCLUSION: These results shed light on possible multimodal integration impairments affecting the communication between bottom-up and top-down information. The observed hypoconnectivity between the DMN, SMN, and DAN could also be related to difficulties in switching between externally oriented attention and internally oriented thoughts.

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7. Raditha C, Handryastuti S, Pusponegoro HD, Mangunatmadja I. Positive behavioral effect of sensory integration intervention in young children with autism spectrum disorder. Pediatr Res;2022 (Aug 27)

BACKGROUND: Sensory integration occupational therapy (SI-OT) might be useful for autism spectrum disorders (ASD) in younger age, according to Pusponegoro. Previous studies were still limited, especially in younger age. This study evaluated the effect of SI-OT in improving positive behaviors of ASD children aged 2-5 years. METHODS: Non-randomized controlled trial of SI-OT evaluation, assessed with Vineland Adaptive Behavior Scale-II. RESULTS: A total of 72 subjects were studied. Following SI-OT, communication skills (expressive, receptive), socialization (coping skills), and daily living skills (personal, community) were improved significantly. CONCLUSIONS: SI-OT with Ayres theory in 60 min, twice a week for 12 weeks improved positive behaviors. IMPACT: To address the effectivity of sensory integration occupational therapy (SI-OT) in improving positive behaviors of autism spectrum disorders (ASD) children aged 2-5 years. The first study to evaluate evidence of SI-OT in ASD younger than 3 years. Non-randomized controlled trial of SI-OT evaluation of ASD in younger children aged 2-5 years with Vineland Adaptive Behavior Scale-II. SI-OT of Ayres theory in 60 min, twice a week for 12 weeks improves communication domain (expressive, receptive, written) aged 2-4 years, and socialization domain (interpersonal relationship, play, and leisure time) aged 2 years of ASD children.

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8. Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann CM, Lemke J, Syrbe S, Willemsen MH, Hedrich UBS, Helbig I, Weber Y. Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series. EBioMedicine;2022 (Aug 24);83:104234.

OBJECTIVE: Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders. METHODS: Patients with pathogenic variants in FGF12 were identified through published case reports, GeneMatcher and whole exome sequencing of own case collections. The functional consequences of two missense and two copy number variants (CNVs) were studied by co-expression of wildtype and mutant FGF12 in neuronal-like cells (ND7/23) with the sodium channels Na(V)1.2 or Na(V)1.6, including their beta-1 and beta-2 sodium channel subunits (SCN1B and SCN2B). RESULTS: Four variants in FGF12 were identified for functional analysis: one novel FGF12 variant in a patient with autism spectrum disorder and three variants from previously published patients affected by DEE. We demonstrate the differential regulating effects of wildtype and mutant FGF12 on Na(V)1.2 and Na(V)1.6 channels. Here, FGF12 variants lead to a complex kinetic influence on Na(V)1.2 and Na(V)1.6, including loss- as well as gain-of function changes in fast and slow inactivation. INTERPRETATION: We could demonstrate the detailed regulating effect of FGF12 on Na(V)1.2 and Na(V)1.6 and confirmed the complex effect of FGF12 on neuronal network activity. Our findings expand the phenotypic spectrum related to FGF12 variants and elucidate the underlying pathomechanism. Specific variants in FGF12-associated disorders may be amenable to precision treatment with sodium channel blockers. FUNDING: DFG, BMBF, Hartwell Foundation, National Institute for Neurological Disorders and Stroke, IDDRC, ENGIN, NIH, ITMAT, ILAE, RES and GRIN.

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9. Stefanaki A, Gkogkos G, Varlokosta S, Gena A. Applying a Parent Training Program in a Naturalistic Behavior Analytic Context to Improve Attachment in Children with ASD. J Autism Dev Disord;2022 (Aug 27)

Infants develop attachment to their caregivers very early on. The quality of attachment is considered to be crucial for the emotional development of humans and animals alike. Despite its importance, very little is known about how attachment develops between children with Autism Spectrum Disorder (ASD) and their caregivers. The purpose of the present study was to assess the attachment patterns of two young children with ASD with their parents and to identify the means for promoting parent, child, and parent-child relational characteristics that may contribute to the development of secure attachment. The results replicated prior findings pertaining to attachment quality of children with ASD and demonstrated the effectiveness of a naturalistic, behavior-analytic intervention in improving the quality of their attachment.

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