1. Boccazzi M, Raffaele S, Zanettin T, Abbracchio MP, Fumagalli M. Altered Purinergic Signaling in Neurodevelopmental Disorders: Focus on P2 Receptors. Biomolecules. 2023; 13(5).

With the umbrella term ‘neurodevelopmental disorders’ (NDDs) we refer to a plethora of congenital pathological conditions generally connected with cognitive, social behavior, and sensory/motor alterations. Among the possible causes, gestational and perinatal insults have been demonstrated to interfere with the physiological processes necessary for the proper development of fetal brain cytoarchitecture and functionality. In recent years, several genetic disorders caused by mutations in key enzymes involved in purine metabolism have been associated with autism-like behavioral outcomes. Further analysis revealed dysregulated purine and pyrimidine levels in the biofluids of subjects with other NDDs. Moreover, the pharmacological blockade of specific purinergic pathways reversed the cognitive and behavioral defects caused by maternal immune activation, a validated and now extensively used rodent model for NDDs. Furthermore, Fragile X and Rett syndrome transgenic animal models as well as models of premature birth, have been successfully utilized to investigate purinergic signaling as a potential pharmacological target for these diseases. In this review, we examine results on the role of the P2 receptor signaling in the etiopathogenesis of NDDs. On this basis, we discuss how this evidence could be exploited to develop more receptor-specific ligands for future therapeutic interventions and novel prognostic markers for the early detection of these conditions.

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2. Brunt S, Sadikova E, Pappagianopoulos J, Mazurek MO. The impact of COVID-19 on receipt of health services among children with and without autism. Autism : the international journal of research and practice. 2023: 13623613231176930.

The COVID-19 pandemic disrupted doctor’s and dental visits, mental health treatments, and other special therapies for children across the United States. Prior research has found that autistic children were more likely to lack these services even before the pandemic, but they experienced more mental health and behavior problems with the onset of the pandemic, increasing the need for these services. This study analyzed data from before (2019) and after (2020) the onset of the pandemic to determine whether autistic children had even more severe disruptions in services after the pandemic started compared to nonautistic children. We found that autistic children were more likely to have unmet medical, dental, and mental health needs in both 2019 and 2020. Overall, children experienced increased disruptions from 2019 to 2020, but this did not differ by diagnosis. Our results suggest that there are persisting gaps in autistic children’s healthcare regardless of the pandemic. We discuss issues surrounding barriers to services for autistic children and issues surrounding virtual services, such as teletherapy. Future research should further explore how to reduce barriers to services for autistic children, including virtual and in-person services.

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3. Criss SD, Kakulamarri S, Xu RF, Fajardo M, Keeney T, Tolchin DW, May CJ. The Healthcare Experience of Autistic Patients in Orthopaedic Surgery and Closely Related Fields: A Scoping Review. Children (Basel, Switzerland). 2023; 10(5).

Orthopaedic and related care has the potential to present unique obstacles for patients with a range of autism manifestations. In this review, we aim to describe and analyze the literature on autistic patients’ experience within orthopaedics and closely related fields. This literature search utilized the PubMed, Embase, and Cumulative Index to Nursing and Allied Health Literature databases. Three major concepts were built into the search terms: (1) patients on the autism spectrum; (2) patient experience; and (3) movement sciences, including orthopaedics, physical medicine and rehabilitation (PM&R), occupational therapy (OT), and physical therapy (PT). Our search yielded 35 topical publications, with the major topic areas addressed as follows: (1) clinical and perioperative management, (2) therapy interventions, (3) participation in exercise and social play, (4) sensory management and accommodations, (5) caregiver/parent training and involvement in care, (6) healthcare needs and barriers to care, and (7) utilization of technology. In the current literature, there are no studies that attempt to directly assess autistic patient experience with care practices and clinical environments in orthopaedics. Rigorous, direct examination of the experience of autistic patients within clinical orthopaedic settings is urgently needed to address this gap.

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4. De Donno MD, Puricella A, D’Attis S, Specchia V, Bozzetti MP. Expression of Transposable Elements in the Brain of the Drosophila melanogaster Model for Fragile X Syndrome. Genes. 2023; 14(5).

Fragile X syndrome is a neuro-developmental disease affecting intellectual abilities and social interactions. Drosophila melanogaster represents a consolidated model to study neuronal pathways underlying this syndrome, especially because the model recapitulates complex behavioural phenotypes. Drosophila Fragile X protein, or FMRP, is required for a normal neuronal structure and for correct synaptic differentiation in both the peripheral and central nervous systems, as well as for synaptic connectivity during development of the neuronal circuits. At the molecular level, FMRP has a crucial role in RNA homeostasis, including a role in transposon RNA regulation in the gonads of D. m. Transposons are repetitive sequences regulated at both the transcriptional and post-transcriptional levels to avoid genomic instability. De-regulation of transposons in the brain in response to chromatin relaxation has previously been related to neurodegenerative events in Drosophila models. Here, we demonstrate for the first time that FMRP is required for transposon silencing in larval and adult brains of Drosophila « loss of function » dFmr1 mutants. This study highlights that flies kept in isolation, defined as asocial conditions, experience activation of transposable elements. In all, these results suggest a role for transposons in the pathogenesis of certain neurological alterations in Fragile X as well as in abnormal social behaviors.

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5. De Falco A, Iolascon A, Ascione F, Piscopo C. New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients. Genes. 2023; 14(5).

The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as RORB and TRPM6. Here, we report a case of a 7-year-old boy affected by 9q21.13 microdeletion syndrome. He presents with global developmental delay, intellectual disability, autistic behaviour, seizures and facial dysmorphism. Moreover, he has severe myopia, which was previously reported in only another patient with 9q21.13 deletion, and brain anomalies which were never described before in 9q21.13 microdeletion syndrome. We also collect 17 patients from a literature search and 10 cases from DECIPHER database with a total number of 28 patients (including our case). In order to better investigate the four candidate genes RORB, TRPM6, PCSK5, and PRUNE2 for neurological phenotype, we make, for the first time, a classification in four groups of all the collected 28 patients. This classification is based both on the genomic position of the deletions included in the 9q21.3 locus deleted in our patient and on the different involvement of the four-candidate gene. In this way, we compare the clinical problems, the radiological findings, and the dysmorphic features of each group and of all the 28 patients in our article. Moreover, we perform the genotype-phenotype correlation of the 28 patients to better define the syndromic spectrum of 9q21.13 microdeletion syndrome. Finally, we propose a baseline ophthalmological and neurological monitoring of this syndrome.

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6. Dell’Osso L, Bonelli C, Nardi B, Amatori G, Cremone IM, Carpita B. Autism Spectrum Disorder in a Patient with Bipolar Disorder and Its Relationship with Catatonia Spectrum: A Case Study. Brain sciences. 2023; 13(5).

According to several studies, the prevalence of Autism Spectrum Disorder (ASD) ranges from 2.4 to 9.9 percent among adult mental inpatients. However, subjects with forms of ASD that fit in the high functioning spectrum may remain undiagnosed during childhood and adolescence without reaching clinical attention until they develop in adult life other psychiatric disorders, often characterized by treatment resistance and poor outcomes. The aim of this case report was to evaluate the role of an undiagnosed ASD in the mental illness trajectory and discuss the diagnostic and therapeutic implications. We reported a case of a young man with an undiagnosed ASD that came to clinical attention only after the development of a severe manic episode with mixed and psychotic features and with catatonia in adulthood, despite meeting DSM-5-TR (APA, 2022) diagnostic criteria for ASD since early childhood. This case confirms the need of a timely identification of ASD in order to prevent the development of a mental illness trajectory and to improve the prognosis and the outcome. Moreover, on the heuristic level, this case seems to support the presence of a continuum between ASD and catatonia. In this framework, the use of a questionnaire based on a spectrum model, such as the AdAS Spectrum, could be useful in early diagnosis of ASD without intellectual or language impairment as well as in early detection of subthreshold conditions (broad autism spectrum phenotype or autistic traits), which represents a vulnerability factor for the development of various mental disorders.

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7. English MCW, Maybery MT, Visser TAW. A review of behavioral evidence for hemispheric asymmetry of visuospatial attention in autism. Autism research : official journal of the International Society for Autism Research. 2023.

Most individuals show a small bias towards visual stimuli presented in their left visual field (LVF) that reflects right-hemispheric specialization of visuospatial functions. Moreover, this bias is altered by some neurodevelopmental disorders, suggesting they may be linked to changes in hemispheric asymmetry. To examine whether autism potentially alters hemispheric asymmetry, we conducted a systematic search of scientific databases to review existing literature on the link between autism and alterations in visuospatial bias. This search identified 13 publications that had explored this issue using a wide range of experimental designs and stimuli. Evidence of reduced LVF bias associated with autism was most consistent for studies examining attentional bias or preference measured using tasks such as line bisection. Findings for studies examining attentional performance (e.g., reaction time) were more equivocal. Further investigation is called for, and we make several recommendations for how this avenue of research can be extended.

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8. Ilchibaeva T, Tsybko A, Lipnitskaya M, Eremin D, Milutinovich K, Naumenko V, Popova N. Brain-Derived Neurotrophic Factor (BDNF) in Mechanisms of Autistic-like Behavior in BTBR Mice: Crosstalk with the Dopaminergic Brain System. Biomedicines. 2023; 11(5).

Disturbances in neuroplasticity undoubtedly play an important role in the development of autism spectrum disorders (ASDs). Brain neurotransmitters and brain-derived neurotrophic factor (BDNF) are known as crucial players in cerebral and behavioral plasticity. Such an important neurotransmitter as dopamine (DA) is involved in the behavioral inflexibility of ASD. Additionally, much evidence from human and animal studies implicates BDNF in ASD pathogenesis. Nonetheless, crosstalk between BDNF and the DA system has not been studied in the context of an autistic-like phenotype. For this reason, the aim of our study was to compare the effects of either the acute intracerebroventricular administration of a recombinant BDNF protein or hippocampal adeno-associated-virus-mediated BDNF overexpression on autistic-like behavior and expression of key DA-related and BDNF-related genes in BTBR mice (a widely recognized model of autism). The BDNF administration failed to affect autistic-like behavior but downregulated Comt mRNA in the frontal cortex and hippocampus; however, COMT protein downregulation in the hippocampus and upregulation in the striatum were insignificant. BDNF administration also reduced the receptor TrkB level in the frontal cortex and midbrain and the BDNF/proBDNF ratio in the striatum. In contrast, hippocampal BDNF overexpression significantly diminished stereotypical behavior and anxiety; these alterations were accompanied only by higher hippocampal DA receptor D1 mRNA levels. The results indicate an important role of BDNF in mechanisms underlying anxiety and repetitive behavior in ASDs and implicates BDNF-DA crosstalk in the autistic-like phenotype of BTBR mice.

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9. Kozak A, Czepczor-Bernat K, Modrzejewska J, Modrzejewska A, Matusik E, Matusik P. Avoidant/Restrictive Food Disorder (ARFID), Food Neophobia, Other Eating-Related Behaviours and Feeding Practices among Children with Autism Spectrum Disorder and in Non-Clinical Sample: A Preliminary Study. International journal of environmental research and public health. 2023; 20(10).

Previous research shows that children with autism spectrum disorder (ASD) may experience several difficulties-including those related to eating-and this area of research needs to be explored further. This study had two main objectives: (1) comparison of the clinical (autism spectrum disorder) and non-clinical sample of children in terms of avoidant/restrictive food disorder, food neophobia, other eating-related behaviours and feeding practices; (2) assessment of selected predictors of food neophobia. The final sample included 54 children and parents from the clinical sample (ASD) and 51 from the non-clinical sample. Parents completed: the autism spectrum rating scales (ASRS), the eating disorders in youth questionnaire (EDY-Q), the children food neophobia scale (CFNS), the child eating behaviour questionnaire (CEBQ), the child feeding questionnaire (CFQ), and a socio-demographic survey. Our analysis allowed us to partially confirm the first hypothesis since the clinical sample (vs. the non-clinical group) had significantly higher scores in such variables as (a) avoidant/restrictive food disorder (ARFID), (b) food neophobia, (c) other eating-related behaviours: emotional under-eating, desire to drink, food fussiness, (d) feeding practices: pressure to eat. Moreover, our analysis of predictors of food neophobia in the clinical and non-clinical samples also allowed us to partially confirm the second hypothesis because it turned out that only in the clinical sample (vs. the non-clinical sample) were the predictors significantly associated with food neophobia, but only two of them (food fussiness and selective eating). In conclusion, our study showed that children with ASD (compared to children without this diagnosis) experience increased difficulties in eating behaviours, and their parents present a stronger intensity of the feeding practice based on pressure to eat. This study showed that feeding problems for children in the ASD sample are a significant problem, and it is still worth exploring this area in research.

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10. Lee J, Lee SI. Unrecognized comorbid autism spectrum disorder in children initially diagnosed with only attention deficit hyperactivity disorder. Asian journal of psychiatry. 2023; 85: 103629.

The present study examined the prevalence of autism spectrum disorder (ASD) in intellectually capable children with attention deficit hyperactivity disorder (ADHD). Retrospective chart review on 103 children (mean age= 7.83 ± 1.72 years female=15.53%), without intellectual disability, who were diagnosed with only ADHD were done. Among the 103 children 27 children (26.21%) were later co-diagnosed with ASD. The results of the present study provide helpful insights in accurate recognition of co-occurring ASD in intellectually capable children diagnosed with ADHD. The potential for the coexistence of ASD should always be given careful consideration when examining children with ADHD.

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11. Lee KS, Min WK, Choi YJ, Jin S, Park KH, Kim S. The Effect of Maternal Exposure to Air Pollutants and Heavy Metals during Pregnancy on the Risk of Neurological Disorders Using the National Health Insurance Claims Data of South Korea. Medicina (Kaunas, Lithuania). 2023; 59(5).

The objective of this study was to evaluate the effects of high levels of maternal exposure to ambient air pollution and heavy metals on risks of autism spectrum disorder (ASD) and epilepsy using the National Health Insurance claims data of South Korea. The data of mothers and their newborns from 2016 to 2018 provided by the National Health Insurance Service were used (n = 843,134). Data on exposure to ambient air pollutants (PM2.5, CO, SO(2), NO(2), and O(3)) and heavy metals (Pb, Cd, Cr, Cu, Mn, Fe, Ni, and As) during pregnancy were matched based on the mother’s National Health Insurance registration area. SO(2) (OR: 2.723, 95% CI: 1.971-3.761) and Pb (OR: 1.063, 95% CI: 1.019-1.11) were more closely associated with the incidence of ASD when infants were exposed to them in the third trimester of pregnancy. Pb (OR: 1.109, 95% CI: 1.043-1.179) in the first trimester of pregnancy and Cd (OR: 2.193, 95% CI: 1.074-4.477) in the third trimester of pregnancy were associated with the incidence of epilepsy. Thus, exposure to SO(2), NO(2), and Pb during pregnancy could affect the development of a neurologic disorder based on the timing of exposure, suggesting a relationship with fetal development. However, further research is needed.

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12. Lotan M, Downs J, Stahlhut M, Romano A. Evaluation Tools Developed for Rett Syndrome. Diagnostics (Basel, Switzerland). 2023; 13(10).

Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. This opinion paper aims to present up-to date evaluation tools which have specifically been adapted for individuals with RTT often used by the authors in their clinical and research practice and to provide the reader with essential considerations and suggestions regarding their use. Due to the rarity of Rett syndrome, we found it important to present these scales in order to improve and professionalize their clinical work. The current article will review the following evaluation tools: (a) the Rett Assessment Rating Scale; (b) the Rett Syndrome Gross Motor Scale; (c) the Rett Syndrome Functional Scale; (d) the Functional Mobility Scale-Rett Syndrome; (e) the Two-Minute Walking Test modified for Rett syndrome; (f) the Rett Syndrome Hand Function Scale; (g) the StepWatch Activity Monitor; (h) the activPAL(TM); (i) the Modified Bouchard Activity Record; (j) the Rett Syndrome Behavioral Questionnaire; and (k) the Rett Syndrome Fear of Movement Scale. The authors recommend that service providers consider evaluation tools validated for RTT for evaluation and monitoring to guide their clinical recommendations and management. In this article, the authors suggest factors that should be considered when using these evaluation tools to assist in interpreting scores.

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13. Martínez Pérez E, Adanero Velasco A, Gómez Clemente V, Miegimolle Herrero M, Planells Del Pozo P. Importance of Desensitization for Autistic Children in Dental Practice. Children (Basel, Switzerland). 2023; 10(5).

OBJECTIVES: Dental treatment in special needs patients, including children with autism, can be accomplished by reducing the behaviors that can reduce fear, as it has been demonstrated in other studies. The present study aims to examine the influence of the latency time elapsing between desensitization and the real dental situation on facilitating the access of children with autism to dental treatment. STUDY DESIGN: Nineteen patients with autism, who were aged 3-14 years and attended the Special Education Center in Madrid but were living with their parents at home, were selected for the study. All children in the sample were subjected to a desensitization process before attending the real dental office. Two study groups were established: the latency period between the last desensitization and the real situation was one day for the first group and seven days for the second group. An experimental study was conducted to assess the child’s cooperation in the dental chair; the dental examination was divided into several steps and the highest step reached by each child was recorded. RESULTS: There is a statistical difference in the number of steps reached between the children who received the information just before the examination date and the children who experienced a longer latency period between receiving the information and experiencing the examination. CONCLUSIONS: We would like to emphasize the importance of providing information in advance when dealing with autistic children; this information should be as close as possible to the real situation. Additionally, we would like to stress the importance of inter-cooperation between parents, educators, and pediatric dentists in order to guarantee adequate oro-dental care for autistic children. Further studies with larger sample sizes and a control group are recommended.

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14. Nakhal MM, Jayaprakash P, Aburuz S, Sadek B, Akour A. Canagliflozin Ameliorates Oxidative Stress and Autistic-like Features in Valproic-Acid-Induced Autism in Rats: Comparison with Aripiprazole Action. Pharmaceuticals (Basel, Switzerland). 2023; 16(5).

Based on their proven anti-inflammatory and antioxidant effects, recent studies have examined the therapeutic potential of the sodium-glucose cotransporter 2 (SGLT2) inhibitors in neurodevelopmental disorders such as autism spectrum disorder (ASD). Therefore, the aim of this study is to assess the effects of subchronic systemic treatment with intraperitoneal (i.p.) canagliflozin (20, 50, and 100 mg/kg) compared to aripiprazole (ARP) (3 mg/g, i.p.) in a valproic acid (VPA)-induced rat model of autism. The behavioral characteristics of ASD, oxidative stress, and acetylcholinesterase (AChE) activity in rats with ASD-like behaviors, which were induced by prenatal exposure to VPA, were evaluated. The behavioral assessment methods used for this study were the open field test (OFT), the marble-burying test (MBT), and the nestlet-shredding test (NST) to examine their exploratory, anxiety, and compulsiveness-like actions, while the biochemical assessment used for this study was an ELISA colorimetric assay to measure ASD biomarker activity in the hippocampus, prefrontal cortex, and cerebellum. Rats that were pretreated with 100 mg/kg of canagliflozin displayed a significantly lower percentage of shredding (1.12 ± 0.6%, p < 0.01) compared to the ARP group (3.52 ± 1.6%). Pretreatment with (20 mg/kg, 50 mg/kg, and 100 mg/kg) canagliflozin reversed anxiety levels and hyperactivity and reduced hyper-locomotor activity significantly (161 ± 34.9 s, p < 0.05; 154 ± 44.7 s, p < 0.05; 147 ± 33.6 s, p < 0.05) when compared with the VPA group (303 ± 140 s). Moreover, canagliflozin and ARP mitigated oxidative stress status by restoring levels of glutathione (GSH) and catalase (CAT) and increasing the levels of malondialdehyde (MDA) in all tested brain regions. The observed results propose repurposing of canagliflozin in the therapeutic management of ASD. However, further investigations are still required to verify the clinical relevance of canagliflozin in ASD.

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15. Nicholson J, Mazel S, Faughnan K, Silverman A. Mothers with Intellectual/Developmental Disabilities and Behavioral Health Conditions and Community Experts Provide Recommendations for Treatment/Services, Systems, and Research. International journal of environmental research and public health. 2023; 20(10).

Mothers with intellectual and developmental disabilities (IDD) are vulnerable to perinatal complications and adverse outcomes. Their vulnerabilities may also be exacerbated by co-occurring behavioral health (BH) conditions. Their wellbeing may be compromised by a lack of tailored treatments or by treatments and services that are inaccessible, irrelevant, and/or ineffective. A five-session virtual Ideas Lab workshop series was implemented to bring together diverse community experts (n = 30), including mothers with IDD/BH, to discuss the experiences of mothers and set priorities for treatment/services, systems, and research. Participants completed background and evaluation surveys and brainstormed, grouped, and ranked items of importance, which fell into two broad categories: (1) cross-cutting themes drawn from lived experience with recommendations applicable to all substantive domains (i.e., accessibility, diversity, adverse experiences and trauma, and trust) and (2) substantive themes with specific recommendations for treatment/services and systems (i.e., services and supports, peer support, provider practices and training, and systems navigation/transformation). Research recommendations were generated in all discussions and emerged in relation to all themes, underscoring the importance of including mother-driven questions and priorities in research agendas and strengthening researcher training and skills to engage mothers with IDD/BH and other community members actively, and in meaningful ways.

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16. Park M, Kim J, Yu C, Lim H. The Effects of Neurodevelopmental Treatment-Based Trunk Control Exercise on Gross Motor Function and Trunk Control in Children with Developmental Disabilities. Healthcare (Basel, Switzerland). 2023; 11(10).

BACKGROUND: Good trunk control is essential for higher developmental stages as the trunk is activated first when movement occurs, providing stability for the head and extremities. PURPOSE: To determine if neurodevelopmental treatment-based trunk control exercise (NDT-TCE) is effective in improving gross motor function and trunk control in children with developmental disabilities (DD). MATERIALS AND METHODS: Twenty children with developmental disabilities were randomly assigned to the NDT-TCE (12 children) and control (8 children) groups. RESULTS: After the intervention; the NDT-TCE group showed improvement in GMFM (Gross Motor Function Measure; except for the GMFM-E dimension) and SATCo scores. The control group showed improvement in GMFM-A; B; C; and total scores; as well as static and active control of SATCo. The NDT-TCE group had a significant improvement in the GMFM B dimension and total score compared to the control group. The NDT-TCE group showed a significant improvement in static and active control of SATCo compared to the control group, but there was no significant difference in reactive control. CONCLUSIONS: The NDT-TCE intervention specifically improved GMFM-B and trunk control scores. Therefore, NDT-TCE can be applied as a trunk-focused intervention for children with DD who have difficulty controlling their trunk.

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17. Rinaldi A, Marins Martins MC, De Almeida Martins Oliveira AC, Rinaldi S, Fontani V. Improving Functional Abilities in Children and Adolescents with Autism Spectrum Disorder Using Non-Invasive REAC Neuro Psycho Physical Optimization Treatments: A PEDI-CAT Study. Journal of personalized medicine. 2023; 13(5).

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that affects communication, social interaction, and behavior. Non-invasive neuromodulation techniques, such as radioelectric asymmetric conveyer (REAC) technology, have gained attention for their potential to improve the endogenous bioelectric activity (EBA) and neurobiological processes underlying ASD. Neuro Postural Optimization (NPO) and Neuro Psycho Physical Optimization (NPPO) treatments are non-invasive and painless neuromodulation treatments that utilize REAC technology and have shown promising results in improving the symptoms of ASD. This study aimed to evaluate the effects of NPO and NPPO treatments on functional abilities in children and adolescents with ASD using the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT). The study consisted of 27 children and adolescents with ASD who underwent a single session of NPO followed by 18 sessions of NPPO treatment over a period of one week. The results showed significant improvements in the children’s and adolescents’ functional abilities across all domains of the PEDI-CAT. These findings suggest that NPO and NPPO may be effective treatments for improving functional abilities in children and adolescents with ASD.

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18. Savage MN, Colombo-Dougovito AM. Capabilities, Opportunities, and Motivation: Exploring Fitness Program Experiences of Adults with Intellectual and Developmental Disabilities. International journal of environmental research and public health. 2023; 20(10).

Although there are many benefits to regular engagement in physical activity, adults with intellectual and developmental disabilities often do not engage in or near the recommended amount of physical activity. Barriers, such as lack of perceived capability, accessible environments, transportation, social support, and or knowledgeable support staff, may limit participation in physical activity. The present study used qualitative methods to explore the experiences of adults with intellectual and developmental disabilities enrolled in a fitness program. We used field observations and photo-elicited semi-structured interviews to explore what capabilities, opportunities, and motivations facilitate or hinder engagement in fitness classes and their experiences in the program. We used the COM-B model to deductively interpret and analyze the data through thematic analysis. Major themes were identified around types of support and preferences for physical over sedentary activities. Instructor, client, and family support were identified as important in facilitating interest, engagement, and skill. Dependency on others for financial and transportation support was also reported as important for participants to access the fitness program. This study provides valuable insight into the interactions and experiences of adults with intellectual and developmental disabilities, including what keeps them engaged in a fitness program as it relates to capabilities, opportunities, and motivation.

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19. Savino R, Medoro A, Ali S, Scapagnini G, Maes M, Davinelli S. The Emerging Role of Flavonoids in Autism Spectrum Disorder: A Systematic Review. Journal of clinical medicine. 2023; 12(10).

Although autism spectrum disorder (ASD) is a multifaceted neurodevelopmental syndrome, accumulating evidence indicates that oxidative stress and inflammation are common features of ASD. Flavonoids, one of the largest and best-investigated classes of plant-derived compounds, are known to exert antioxidant, anti-inflammatory, and neuroprotective effects. This review used a systematic search process to assess the available evidence on the effect of flavonoids on ASD. A comprehensive literature search was carried out in PubMed, Scopus, and Web of Science databases following the PRISMA guidelines. A total of 17 preclinical studies and 4 clinical investigations met our inclusion criteria and were included in the final review. Most findings from animal studies suggest that treatment with flavonoids improves oxidative stress parameters, reduces inflammatory mediators, and promotes pro-neurogenic effects. These studies also showed that flavonoids ameliorate the core symptoms of ASD, such as social deficits, repetitive behavior, learning and memory impairments, and motor coordination. However, there are no randomized placebo-controlled trials that support the clinical efficacy of flavonoids in ASD. We only found open-label studies and case reports/series, using only two flavonoids such as luteolin and quercetin. These preliminary clinical studies indicate that flavonoid administration may improve specific behavioral symptoms of ASD. Overall, this review is the first one to systematically report evidence for the putative beneficial effects of flavonoids on features of ASD. These promising preliminary results may provide the rationale for future randomized controlled trials aimed at confirming these outcomes.

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20. Singh J, Goodman-Vincent E, Santosh P. Evidence Synthesis of Gene Therapy and Gene Editing from Different Disorders-Implications for Individuals with Rett Syndrome: A Systematic Review. International journal of molecular sciences. 2023; 24(10).

This systematic review and thematic analysis critically evaluated gene therapy trials in amyotrophic lateral sclerosis, haemoglobinopathies, immunodeficiencies, leukodystrophies, lysosomal storage disorders and retinal dystrophies and extrapolated the key clinical findings to individuals with Rett syndrome (RTT). The PRISMA guidelines were used to search six databases during the last decade, followed by a thematic analysis to identify the emerging themes. Thematic analysis across the different disorders revealed four themes: (I) Therapeutic time window of gene therapy; (II) Administration and dosing strategies for gene therapy; (III) Methods of gene therapeutics and (IV) Future areas of clinical interest. Our synthesis of information has further enriched the current clinical evidence base and can assist in optimising gene therapy and gene editing studies in individuals with RTT, but it would also benefit when applied to other disorders. The findings suggest that gene therapies have better outcomes when the brain is not the primary target. Across different disorders, early intervention appears to be more critical, and targeting the pre-symptomatic stage might prevent symptom pathology. Intervention at later stages of disease progression may benefit by helping to clinically stabilise patients and preventing disease-related symptoms from worsening. If gene therapy or editing has the desired outcome, older patients would need concerted rehabilitation efforts to reverse their impairments. The timing of intervention and the administration route would be critical parameters for successful outcomes of gene therapy/editing trials in individuals with RTT. Current approaches also need to overcome the challenges of MeCP2 dosing, genotoxicity, transduction efficiencies and biodistribution.

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21. Tomczak MT, Ziemiański P. Autistic Employees’ Technology-Based Workplace Accommodation Preferences Survey-Preliminary Findings. International journal of environmental research and public health. 2023; 20(10).

BACKGROUND: There has been an increase in the number of research studies focused on the design of accommodations aimed at improving the well-being and work performance of autistic employees. These accommodations took various forms; some of them were based on modification of management practices, for example, support in the area of effective communication, or involved modifications to the physical working environment aimed at limiting sensory vulnerabilities. Many of these solutions were based on digital technology. METHODS: This quantitative research aimed to learn about the opinions of the autistic respondents as potential end users and their assessment of the proposed solutions within four main challenge areas: (1) effective communication; (2) time management, task prioritizing, and organization of work; (3) stress management and emotion control; and (4) sensory sensitivities. RESULTS: Respondents gave the highest ratings to solutions aimed at limiting overstimulation and a flexible approach toward working time, support of a job coach, remote work, and support by allowing electronic-mediated communication based on non-direct contact. CONCLUSIONS: The results can be the starting point for further research on the highest rated solutions dedicated to improving working conditions and the well-being of autistic employees and can be an inspiration for employers who plan to introduce such solutions.

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22. Xu MX, Ju XD. Abnormal Brain Structure Is Associated with Social and Communication Deficits in Children with Autism Spectrum Disorder: A Voxel-Based Morphometry Analysis. Brain sciences. 2023; 13(5).

Structural magnetic resonance imaging (sMRI) studies have shown abnormalities in the brain structure of ASD patients, but the relationship between structural changes and social communication problems is still unclear. This study aims to explore the structural mechanisms of clinical dysfunction in the brain of ASD children through voxel-based morphometry (VBM). After screening T1 structural images from the Autism Brain Imaging Data Exchange (ABIDE) database, 98 children aged 8-12 years old with ASD were matched with 105 children aged 8-12 years old with typical development (TD). Firstly, this study compared the differences in gray matter volume (GMV) between the two groups. Then, this study evaluated the relationship between GMV and the subtotal score of communications and social interaction on the Autism Diagnostic Observation Schedule (ADOS) in ASD children. Research has found that abnormal brain structures in ASD include the midbrain, pontine, bilateral hippocampus, left parahippocampal gyrus, left superior temporal gyrus, left temporal pole, left middle temporal gyrus and left superior occipital gyrus. In addition, in ASD children, the subtotal score of communications and social interaction on the ADOS were only significantly positively correlated with GMV in the left hippocampus, left superior temporal gyrus and left middle temporal gyrus. In summary, the gray matter structure of ASD children is abnormal, and different clinical dysfunction in ASD children is related to structural abnormalities in specific regions.

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23. Yuan B, Luo L, Hu C, Lin F, Yang T, Chen J, Li T. Retinoic acid supplementation ameliorates motor incoordination via RARα-CBLN2 in the cerebellum of a prenatal valproic acid-exposed rat autism model. Neuroscience letters. 2023: 137316.

In addition to their core symptoms, most individuals with autism spectrum disorders (ASD) also experience motor impairments. These impairments are often linked to the cerebellum, which is the focus of the current study. Herein, we utilized a prenatal valproic acid (VPA)-induced rat model of autism and performed RNA sequencing in the cerebellum. Relative to control animals, the VPA-treated rats demonstrated both abnormal motor coordination and impaired dendritic arborization of Purkinje cells (PCs). Concurrently, we observed a decrease in the cerebellar expression of retinoic acid (RA) synthesis enzymes (RDH10, ALDH1A1), metabolic enzyme (CYP26A2), and lower levels of RA, retinoic acid receptor α (RARα), and Cerebellin2 (CBLN2) in the VPA-treated rats. However, RA supplementation ameliorated these deficits, restoring motor coordination, normalizing PCs dendritic arborization, and increasing the expression of RA, RARα, and CBLN2. Further, ChIP assays confirmed that RA supplementation enhanced RARα’s binding capacity to CBLN2 promoters. Collectively, these findings highlight the therapeutic potential of RA for treating motor incoordination in VPA-induced ASD, acting through the RARα-CBLN2 pathway.

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24. Zhang J, Guo X, Zhang W, Liu D, Chen P, Zhang Y, Ru X. Maternal Variability of Amplitudes of Frequency Fluctuations Is Related to the Progressive Self-Other Transposition Group Intervention in Autistic Children. Brain sciences. 2023; 13(5).

The self-to-other model of empathy (SOME) states that a key reason for the empathic deficiency in autistic individuals is the imbalance of the self-other switch. The existing interventions of theory of mind contain training of self-other transposition ability but combined with other cognitive trainings. The self-other distinction brain areas of autistic individuals have been revealed, but the brain areas of the self-other transposition ability and its intervention have not been investigated. There are normalized amplitudes of low-frequency fluctuations (mALFFs) within 0.01-0.1 Hz and many normalized amplitudes of frequency fluctuations (mAFFs) within 0-0.01, 0.01-0.05, 0.05-0.1, 0.1-0.15, 0.15-0.2, and 0.2-0.25 Hz. Therefore, the current study established a progressive self-other transposition group intervention to specifically and systematically improve autistic children’s self-other transposition abilities. The transposition test with a three mountains test, an unexpected location test, and a deception test was used to directly measure autistic children’s transposition abilities. The Interpersonal Responsiveness Index Empathy Questionnaire with perspective-taking and fantasy subscales (IRI-T) was used to indirectly measure autistic children’s transposition abilities. The Autism Treatment Evaluation Checklist (ATEC) was used to measure autistic children’s autism symptoms. The experiment was designed with two (intervention: experimental group vs. control group) independent variables and two (test time: pretest vs. posttest or tracking test) × three (test: transposition test vs. IRI-T test vs. ATEC test) dependent variables. Furthermore, it used eyes-closed resting-state functional magnetic resonance imaging to investigate and compare the relevant maternal mALFFs and average energy rank and energy rank variability of mAFFs of autistic children’s transposition abilities, autism symptoms, and intervention effects. The results showed the following: (1) There were many improvements (pretest vs. posttest or tracking test) greater than chance 0 in the experimental group, such as the three mountains, lie, transposition, PT, IRI-T, PT tracking, cognition, behavior, ATEC, language tracking, cognition tracking, behavior tracking, and ATEC tracking improvements. However, there was no improvement greater than chance 0 in the control group. (2) The maternal mALFFs and maternal average energy rank and energy rank variability of mAFFs could predict the autistic children’s transposition abilities, autism symptoms, and intervention effects with some overlap and some difference in maternal self-other distinction, sensorimotor, visual, facial expression recognition, language, memory and emotion, and self-consciousness networks. These results indicated that the progressive self-other transposition group intervention successfully improved autistic children’s transposition abilities and reduced their autism symptoms; the intervention effects could be applied to daily life and last up to a month. The maternal mALFFs, average energy rank, and energy rank variability of mAFFs were three effective neural indictors of autistic children’s transposition abilities, autism symptoms, and intervention effects, and the average energy rank and energy rank variability of mAFFs were two new neural indictors established in the current study. The maternal neural markers of the progressive self-other transposition group intervention effects for autistic children were found in part.

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