1. Ali G, Habbab W, Alkhadairi G, Al-Shaban FA, Stanton LW. Generation of induced pluripotent stem cell lines from nonaffected parents and monozygotic triplets affected with autism spectrum disorder and epilepsy. Stem cell research. 2022; 65: 102943.

We have generated induced pluripotent stem cell (iPSC) lines from monozygotic triplets with a rare homozygous mutation in NAPB gene (c.354+2T>G). iPSC lines were also generated from their consanguineous parents who were both heterozygous for the inherited NAPB mutation. The iPSC lines were generated using non-integrating Sendai viral vectors. All iPSC lines showed prototypical stem cell morphology, expressed pluripotency markers and were able to differentiate to all three germ lineages. These iPSC lines will be useful to explore the molecular function of NAPB in neurophysiology and how its dysfunction potentially contributes to the progression of neurodevelopmental disorders associated with autism and epilepsy.

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2. Asaridou M, Wodka EL, Edden RAE, Mostofsky SH, Puts NAJ, He JL. Could Sensory Differences Be a Sex-Indifferent Biomarker of Autism? Early Investigation Comparing Tactile Sensitivity Between Autistic Males and Females. Journal of autism and developmental disorders. 2022.

Sensory differences are highly prevalent in autistic individuals. However, few studies have compared their presentation between autistic males and autistic females. We used psychophysics to assess and compare tactile perceptual sensitivity between autistic and non-autistic boys and girls aged between 8 and 12 years of age. While there were sex-differences of amplitude discrimination, frequency discrimination and order judgement thresholds, these sex-differences were not autism-specific. Mean RTs and detection thresholds were elevated in autism but were comparable between the sexes. Tactile sensitivity measures that are elevated in autism but are otherwise comparable between autistic males and autistic females suggest the possibility that certain sensory features could be used as sex-indifferent markers of autism. Further investigation with larger and more representative samples should be conducted before any stronger conclusions are made.

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3. Hadaya L, Vanes L, Karolis V, Kanel D, Leoni M, Happé F, Edwards AD, Counsell SJ, Batalle D, Nosarti C. Distinct Neurodevelopmental Trajectories in Groups of Very Preterm Children Screening Positively for Autism Spectrum Conditions. Journal of autism and developmental disorders. 2022.

Very preterm (VPT; < 33 weeks' gestation) toddlers screening positively for autism spectrum conditions (ASC) may display heterogenous neurodevelopmental trajectories. Here we studied neonatal brain volumes and childhood ASC traits evaluated with the Social Responsiveness Scale (SRS-2) in VPT-born toddlers (N = 371; median age 20.17 months) sub-divided into three groups based on their Modified-Checklist for Autism in Toddlers scores. These were: those screening positively failing at least 2 critical items (critical-positive); failing any 3 items, but less than 2 critical items (non-critical-positive); and screening negatively. Critical-positive scorers had smaller neonatal cerebellar volumes compared to non-critical-positive and negative scorers. However, both positive screening groups exhibited higher childhood ASC traits compared to the negative screening group, suggesting distinct aetiological trajectories associated with ASC outcomes.

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4. Hampton M, McNamara S. The impact of educational rewards on the diagnosis of autism spectrum disorder. Economics and human biology. 2022; 47: 101188.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social interactions and communication. The prevalence of ASD has risen dramatically in recent years, but the underlying factors leading to this rise are not clear. In this paper, we test whether changes in state-level educational policy that impact school-level resources are associated with the rise in ASD diagnostic prevalence. Early identification of ASD can improve an array of outcomes for children, and school systems play an important role with identification of the condition. It is plausible that children attending schools with better resources from state governments are more likely to receive an ASD diagnosis and presumably appropriate services. We focus on one educational policy in particular, state-level rewards, which consist of a monetary transfer from state governments to school districts. To test the impact of educational rewards on ASD diagnosis, we rely on policy variation across states and time and estimate both two-way fixed effects (TWFE) models alongside recently advanced methods in the difference-in-differences (DiD) literature. Under a baseline TWFE specification we estimate that rewards policies are associated with a 18.46% increase in ASD diagnosis. Further, using DiD methods that account for bias in settings of differential policy timing, we find that the magnitude of the effect increases to 24.8%. We believe these findings to be suggestive evidence that educational rewards policies improved the likelihood of detection and diagnosis of ASD.

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5. Junnarkar VS, Tong HJ, Hanna KMB, Aishworiya R, Duggal M. Qualitative study on barriers and coping strategies for dental care in autistic children: Parents’ perspective. International journal of paediatric dentistry. 2022.

BACKGROUND: Children with autism spectrum disorders (ASD) face challenges in home oral care, accessing a dentist and accepting dental treatment. AIM: To determine the barriers to dental care for autistic children in Singapore through the experiences and opinions of their parents. DESIGN: A qualitative exploratory approach comprising semistructured interviews and a focus group discussion was used. Audio recordings were transcribed and coded into themes using NVivo 12 software. RESULTS: Participants were 23 parents of autistic children aged 3-12 years. The following barriers were identified: (1) Sensory, physical and parental knowledge issues are related to toothbrushing difficulties and use of nonoptimally fluoridated toothpaste in autistic children. (2) Accessing dental services was hindered by a lack of parental knowledge on the importance of an early dental home, parental apprehension about the child’s acceptance of dental care, lack of information on specialised dentists and perceived high cost of dental visits. Parental suggestions for improvements included understanding the child’s sensory profile, more information on finding a suitable dentist and subsidisation of costs for multiple acclimatisation visits. CONCLUSION: Caregivers’ education, information about specialised dentists and the availability of specific dental care resources for autistic children in Singapore are needed for optimising their dental care.

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6. Nakhal MM, Aburuz S, Sadek B, Akour A. Repurposing SGLT2 Inhibitors for Neurological Disorders: A Focus on the Autism Spectrum Disorder. Molecules (Basel, Switzerland). 2022; 27(21).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a substantially increasing incidence rate. It is characterized by repetitive behavior, learning difficulties, deficits in social communication, and interactions. Numerous medications, dietary supplements, and behavioral treatments have been recommended for the management of this condition, however, there is no cure yet. Recent studies have examined the therapeutic potential of the sodium-glucose cotransporter 2 (SGLT2) inhibitors in neurodevelopmental diseases, based on their proved anti-inflammatory effects, such as downregulating the expression of several proteins, including the transforming growth factor beta (TGF-β), interleukin-6 (IL-6), C-reactive protein (CRP), nuclear factor κB (NF-κB), tumor necrosis factor alpha (TNF-α), and the monocyte chemoattractant protein (MCP-1). Furthermore, numerous previous studies revealed the potential of the SGLT2 inhibitors to provide antioxidant effects, due to their ability to reduce the generation of free radicals and upregulating the antioxidant systems, such as glutathione (GSH) and superoxide dismutase (SOD), while crossing the blood brain barrier (BBB). These properties have led to significant improvements in the neurologic outcomes of multiple experimental disease models, including cerebral oxidative stress in diabetes mellitus and ischemic stroke, Alzheimer’s disease (AD), Parkinson’s disease (PD), and epilepsy. Such diseases have mutual biomarkers with ASD, which potentially could be a link to fill the gap of the literature studying the potential of repurposing the SGLT2 inhibitors’ use in ameliorating the symptoms of ASD. This review will look at the impact of the SGLT2 inhibitors on neurodevelopmental disorders on the various models, including humans, rats, and mice, with a focus on the SGLT2 inhibitor canagliflozin. Furthermore, this review will discuss how SGLT2 inhibitors regulate the ASD biomarkers, based on the clinical evidence supporting their functions as antioxidant and anti-inflammatory agents capable of crossing the blood-brain barrier (BBB).

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7. Sáez-Suanes GP, García-Villamisar D, Pozo Armentia AD. Does the gender matter?: Anxiety symptoms and emotion dysregulation in adults with autism and intellectual disabilities. Autism research : official journal of the International Society for Autism Research. 2022.

Research shows high rates of anxious symptoms in people autistic spectrum disorder (ASD). Finding factors related to the development of anxiety in ASD is necessary. Emotion regulation (ER) is associated with anxiety in ASD. Moreover, some studies find higher rates of anxiety in women with ASD. A total of 121 adults (M = 35.46 years, SD = 9.46) with ASD and intellectual disabilities were evaluated to verify moderating role of gender and mediating role of ER. A moderated mediation analysis supported the moderated role of gender in the relationship mediated by emotional dysregulation between ASD and anxiety. These findings suggest that interventions designed to prevent or reduce anxiety symptoms in women with ASD should include among their goals emotional regulation. LAY SUMMARY: If we want to reduce or prevent anxiety symptoms in women with ASD we must work on emotional regulation.

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