1. Ahadullah, Yau SY, Lu HX, Lee TMC, Guo H, Chan CCH. PM(2.5) as a potential risk factor for autism spectrum disorder: Its possible link to neuroinflammation, oxidative stress and changes in gene expression. Neuroscience and biobehavioral reviews. 2021; 128: 534-48.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by behavioral deficits including impairments in social communication, social interaction, and repetitive behaviors. Because the etiology of ASD is still largely unknown, there is no cure for ASD thus far. Although it has been established that genetic components play a vital role in ASD development, the influence of epigenetic regulation induced by environmental factors could also contribute to ASD susceptibility. Accumulated evidence has suggested that exposure to atmospheric particulate matter (PM) in polluted air could affect neurodevelopment, thus possibly leading to ASD. Particles with a size of 2.5 μm (PM(2.5)) or less have been shown to have negative effects on human health, and could be linked to ASD symptoms in children. This review summarizes evidence from clinical and animal studies to demonstrate the possible linkage between PM(2.5) exposure and the incidence of ASD in children. An attempt was made to explore the possible mechanisms of this linkage, including changes of gene expression, oxidative stress and neuroinflammation induced by PM(2.5) exposure.

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2. Bentes AA, Crispim APC, Marinho PES, Viegas ECC, Loutfi KS, Guedes I, Araujo ST, Alvarenga AM, Campos ESLM, Santos MA, Batista AK, Alvarenga PP, Candiani TMS, Kroon EG, de Castro Romanelli RM. Neurologic Manifestations of Noncongenital Zika Virus in Children. The Journal of pediatrics. 2021; 237: 298-301.e1.

We evaluated neurologic complications following noncongenital Zika virus infection in 11 children who presented with central nervous system signs. Zika virus RNA was detected by real-time reverse transcription-polymerase chain reaction in cerebrospinal fluid. Approximately one-quarter of patients required antiepileptic medication in follow-up, and 2 children progressed to learning difficulties or developmental delay.

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3. Chetcuti L, Uljarević M, Varcin KJ, Boutrus M, Pillar S, Dimov S, Barbaro J, Dissanayake C, Green J, Wan MW, Segal L, Slonims V, Whitehouse AJO, Hudry K. Caregiver Psychological Distress Predicts Temperament and Social-Emotional Outcomes in Infants with Autism Traits. Research on child and adolescent psychopathology. 2021; 49(12): 1669-81.

Child temperament and caregiver psychological distress have been independently associated with social-emotional difficulties among individuals with autism. However, the interrelationship among these risk factors has rarely been investigated. We explored the reciprocal interplay between child temperament (surgency, negative affectivity, and self-regulation) and caregiver psychological distress in the development of child internalizing and externalizing symptoms, in a cohort of 103 infants showing early autism traits. Caregivers completed questionnaires when children were aged around 12-months (Time 1 [T1]), 18-months (Time 2 [T2]), and 24-months (Time 3 [T3]). Cross-lagged path models revealed a significant pathway from T1 caregiver psychological distress through lower T2 child self-regulation to subsequently greater T3 child internalizing symptoms. No such caregiver-driven pathway was evident through T2 child negative affectivity or in the prediction of T3 child externalizing symptoms. Further, no support was found for temperament-driven pathways through caregiver psychological distress to child social-emotional difficulties. Child surgency was mostly unrelated to caregiver psychological distress and social-emotional difficulties. These findings implicate the need to support the mental health of caregivers with an infant with autism traits in order to enhance the emotion regulation and social-emotional development of their infants.

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4. Clements A, Fisher WW, Keevy M. Promoting the emergence of tacting three-digit numerals through a chain prompt combined with matrix training. Journal of applied behavior analysis. 2021; 54(4): 1405-19.

Children with autism spectrum disorder (ASD) have difficulty generalizing from directly trained responses to untrained responses (i.e., emergent responding). In this study, we used a chain prompt combined with matrix training to teach 2 participants with ASD to tact 192 three-digit numerals. We used a multiple-baseline design across matrices to evaluate the treatment effects on trained and untrained tacts of numerals. Both participants mastered all numerals exposed to training and all numerals not exposed to training after 3 to 5 sixteen-trial sessions per matrix. One participant learned to tact 8 numerals for each 1 numeral exposed to direct training, and the other participant learned to tact 12 numerals for each 1 numeral exposed to direct training. We discuss these results relative to the effectiveness and efficiency of our chain prompt combined with matrix training for teaching tacting skills for targets with shared stimulus properties that facilitate generalization to untrained targets.

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5. Donnarumma B, Riccio MP, Terrone G, Palma M, Strisciuglio P, Scala I. Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report. Italian journal of pediatrics. 2021; 47(1): 148.

BACKGROUND: White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical facial dysmorphisms are recognized as WHSUS features; however, still few patients receive a comprehensive psychometric, behavioral and neurological examination. In this report, we describe the pediatric, dysmorphological, neurological, psychometric and behavioral phenotype in a new WHSUS patient due to a novel heterozygous POGZ mutation, highlighting the distinctive epileptic phenotype and the cognitive pattern. CASE PRESENTATION: The patient, an 8 years-old girl, presented history of hypotonia, motor and speech delay, and distinctive facial features. The diagnosis of WHSUS followed the identification of the de novo variant p.Asp828GlyfsTer36 (c.2482dupG) in the POGZ gene. The patient showed a distinctive neurological phenotype with the occurrence of both paroxysmal not-epileptic events in the first 6 months of age and EEG abnormalities without evidence of clinical seizures after the first year of age. Psychological and behavioral testing highlighted moderate intellectual and communication deficit, mild autism spectrum and visual-motor integration deficit. CONCLUSIONS: This is the first described case of WHSUS with a co-existence of paroxysmal not-epileptic events and abnormal EEG without seizures in the same patient. Together with the available literature data, this observation suggests that paroxysmal not-epileptic events could be more frequent than expected and that this feature belongs to the WHSUS phenotypic spectrum. Autism is a known comorbidity of WHSUS but is still poorly investigated. Specific clinical testing could help detect also mild autistic phenotypes and better define autism prevalence in POGZ-related syndrome. Special attention should be given to symptoms such as stereotypies, social withdrawal, and hyperactivity that, when present, should be considered as possible signs of autism symptoms. The dissection of the neurological and behavioral phenotype is crucial for individualized therapies tailored to patient’s needs.

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6. Ghanouni P, Seaker L. Healthcare Services During the Transitions to Adulthood Among Individuals with ASD Aged 15-25 Years Old: Stakeholders’ Perspectives. Journal of autism and developmental disorders. 2021.

Although previous research has shown that the transition to adulthood may be challenging, there exists a lack of research regarding perspectives of stakeholders on the transition of individuals with Autism Spectrum Disorder (ASD). This study aimed to investigate stakeholders’ experiences regarding healthcare services for youth with ASD during their transition. We involved 20 stakeholders, including 17 parents of youth with ASD as well as 3 services providers. The study yielded three major themes including: (a) accessibility and quality of care; (b) tensions and conflicts; and (c) navigation and integrated care. The findings can be used to direct change within the healthcare services towards better practices for youth with ASD and increasing the likelihood of positive health outcomes.

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7. Hart LC, Saha H, Lawrence S, Friedman S, Irwin P, Hanks C. Implementation and Evolution of a Primary Care-Based Program for Adolescents and Young Adults on the Autism Spectrum. Journal of autism and developmental disorders. 2021: 1-10.

Current primary care models are inadequate for adults on the autism spectrum. The Center for Autism Services and Transition (CAST) clinic was developed in 2014 using feedback from parents of adults on the autism spectrum and patient-centered medical home principles. We evaluated the reach of CAST’s services. As of January 2021, 858 patients were seen in CAST. Many continue to receive primary care from the CAST clinic. The program has undergone staffing changes but continues to accept new patients. We have added services such as « happy visits, » pre-procedure videos, and telehealth visits. CAST provides one example of how to improve primary care for adults on the autism spectrum. More research is needed to assess the effectiveness of the CAST model.

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8. Ketcheson LR, Pitchford EA. Promoting physical activity participation and nutrition education through a telehealth intervention for children on the autism spectrum and their caregivers. Contemporary clinical trials. 2021; 107: 106496.

There is growing empirical support which suggests children on the autism spectrum, as well as their caregivers experience significant health disparities. The global COVID-19 pandemic has only magnified the need to address health among vulnerable populations. While there has been a growing trend in the delivery of telehealth interventions, the delivery of such methods for children on the autism spectrum, and their caregivers remains relatively under examined. The primary goal of PLANE (Physical Literacy And Nutrition Education) is to promote positive trajectories of health for children on the autism spectrum and their primary caregivers through the delivery of a telehealth physical activity and nutrition education program. The study is a pre-experimental analysis of PLANE across 12 months. All activities will be delivered virtually through weekly synchronous and asynchronous programming. A total of 180 participants will be enrolled in this intervention, including children on the autism spectrum and caregivers. Each week a new physical activity skill along with opportunities for recipe assembly will be delivered remotely. Supplemental material will be disseminated online including; step by step directions outlining behavioral skill methodology, opportunities for additional skill practice, and reading material that support weekly topics. Study outcomes will be examined in the parent-child dyad and include rates of overweight/obesity, physical activity, nutrition and quality of life. Finally, feasibility of the telehealth intervention will also be measured. Justification for the conceptualization and delivery of PLANE is well warranted, and PLANE represents a promising intervention which is scalable, sustainable, and replicable.

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9. Verma S, Agrawal R. Psychotropic Medication Adherence in Children and Adolescents. Southern medical journal. 2021; 114(7): 388-94.

Researchers believe that almost 20% of children and adolescents struggle with chronic and persistent mental health concerns. Mental health is the leading cause of disability in the United States. Youth can struggle with several impairing mental health disorders, such as attention-deficit/hyperactivity disorder, mood disorders, psychotic disorders, and autism spectrum disorder. Inadequately treated chronic mental illnesses can adversely affect the growing brain profoundly, including academic decline, early school dropout, cognitive deficits, interpersonal relationship concerns, aggression, suicide attempts or completion, substance use disorders, frequent hospital admissions, and inability to maintain employment. Even if diagnosed early in their course of illness, many of these individuals struggle to continue medications as prescribed. The factors predicting adherence to medications are underresearched in children and adolescents. Psychotropic medication compliance is a complicated issue that is tied to various aspects of caring for a minor individual. Hence, it is relevant to discuss factors that are predicted to contribute to noncompliance in this age group. The purpose of this review is to carefully consider the gaps in knowledge, suggesting interventions by using established instruments and clinical strategies to resolve the identified barriers for improving medication adherence. Compliance should be targeted at various levels, including the entire family tree and the treatment team.

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10. Zhu Q, Niu Y, Gundry M, Zong C. Single-cell damagenome profiling unveils vulnerable genes and functional pathways in human genome toward DNA damage. Science advances. 2021; 7(27).

We report a novel single-cell whole-genome amplification method (LCS-WGA) that can efficiently capture spontaneous DNA damage existing in single cells. We refer to these damage-associated single-nucleotide variants as « damSNVs, » and the whole-genome distribution of damSNVs as the damagenome. We observed that in single human neurons, the damagenome distribution was significantly correlated with three-dimensional genome structures. This nonuniform distribution indicates different degrees of DNA damage effects on different genes. Next, we identified the functionals that were significantly enriched in the high-damage genes. Similar functionals were also enriched in the differentially expressed genes (DEGs) detected by single-cell transcriptome of both Alzheimer’s disease (AD) and autism spectrum disorder (ASD). This result can be explained by the significant enrichment of high-damage genes in the DEGs of neurons for both AD and ASD. The discovery of high-damage genes sheds new lights on the important roles of DNA damage in human diseases and disorders.

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