1. Baptista PPA, Furtado ACA, Fernandes TG, Freire Júnior RC, Lima CFM, Mendonça A. Positive impact of the Therasuit method on gross motor function of children with autism spectrum disorder: Case series. Front Neurol;2023;14:1254867.

The Therasuit method is a valuable physiotherapeutic method to improve the gross motor function of children with neuromotor disorders. This series of case studies investigates the effect of the Therasuit method on the gross motor function of children with autism spectrum disorder (ASD). Therasuit method is a therapeutic intervention that involves the use of a therapeutic suit attached to a cage to stimulate gross motor skills, muscle strengthening, stretching, task training, and balance, which is a positive intervention for other neurodevelopmental disorders. The study was conducted with nine male children (42.1 + 4.1 months old) with ASD who received the Therasuit protocol for 4 weeks (20 sessions). The Gross Motor Function Measure (GMFM-88) was used to assess the children’s gross motor function before and after the Therasuit method intervention. In dimension B, several skills showed improvement, including transfer to sitting, lean forward and return, trunk rotation without support, and transfer from sitting to all four stances. In dimension C, an increase was observed in skills such as being prone to all four stance transfers and reaching above the shoulders. In dimension D, maximum scores were achieved in skills such as pulling to stand on a large bench without assistance. The dimensions with the greatest impairment were D and E, corresponding to gross motor skills in orthostasis and dynamic skills in orthostasis, respectively. The findings suggest that the Therasuit method is a promising resource for treating motor impairments in children with ASD. However, further studies with a larger sample size, an adequate control condition, and random assignment of participants would be needed to provide stronger evidence of the method’s effectiveness in this population.

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2. Boley G, Pierri J, Finegold D, Pan L. Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency. BMJ Case Rep;2024 (Jan 4);17(1)

The authors describe a female in her late twenties, presenting with catatonia and diagnosed with epilepsy, autism spectrum disorder, mild intellectual disability, psychosis, dysthymia, anxiety and bipolar disorder, receiving weekly electroconvulsive therapy (ECT). After testing, findings indicated an interstitial deletion in the 22q13.33 region associated with Phelan-McDermid syndrome. In addition, the patient had low cerebral spinal fluid tetrahydrobiopterin (BH(4)) levels, suggesting dysfunction in the pterin biosynthetic pathway. As a result, the patient started on sapropterin, a BH(4) replacement small molecule. After sapropterin treatment, catatonia improved, and the need for ECT decreased. There was an improvement in her cognitive ability, attention and independence. However, there has been no improvement in seizure frequency.

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3. Bonin M, Augustine L, Meng Q. Beyond Silence: A Scoping Review of Provided Support for Grieving Children With Intellectual Disabilities or Autism Spectrum Disorder. Omega (Westport);2024 (Jan 4):302228231226343.

Children with intellectual disabilities (ID) or autism spectrum disorder (ASD) are considered unable to grieve or understand the concept of death and might not receive grief support after the death of a beloved person; hence, they are at risk of developing complicated grief. This scoping review identified existing grief support for children with ID or ASD. Searching seven databases yielded 514 records; six studies met the predefined inclusion criteria. The six studies identified grief support, including discussions, participation in death rituals, family support, stories, and professional interventions. The support could be organized into three levels, micro, meso, and exo, overlooking the macro level completely, indicating that grief support for these children tends to be irregular and inconsistent.

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4. Caldwell-Harris CL, McGlowan T, Beitia K. Autistic discussion forums: insights into the topics that clinicians don’t know about. Front Psychiatry;2023;14:1271841.

BACKGROUND: User-led autism discussion forums provide a wealth of information about autistic lived experiences, albeit oriented toward those who regularly use computers. We contend that healthcare professionals should read autism discussion forums to gain insight, be informed, and in some cases, to correct assumptions about autistic persons’ lives and possibilities. But experts may be dismissive of user-led forums, believing forums to be filled with myths, misinformation, and combative postings. The questions motivating our research were: Do online forums raise issues that are educational for clinicians and other stakeholders? Are forums useful for those who do empirical research? METHOD: Content analysis was conducted on 300 posts (62,000 words) from Reddit, Quora, and Wrong Planet. Forums were sampled to reflect broad topics; posts were selected sequentially from the identified forums. The authors read through posts in the Excel sheet, highlighting statements that were the main ideas of the post, to discern both broad categories of topics and more specific topics. We coded content pertinent to classic autism myths and analyzed attitudes towards myths such as ‘lack emotion’ and ‘cannot form relationships.’ To document whether forum posts discuss topics that are not widely known outside of elite experts, we compared discussion content to new material about autism contained in the March 2022 DSM 5 Text revision. RESULTS: Classic autism myths were discussed with examples of when elements of myths may be valid. Posters described cases where parents or therapists believed myths. Experts may believe autism myths due to rapid changes in diagnostic practices and due to their lack of knowledge regarding the characteristics of autistic people who have typical intellectual abilities. We conclude that forums contain high-value information for clinicians because all concepts in the DSM 5 text revision were discussed by posters in the years before the text revision appeared. Ideas that are only slowly becoming part of the research literature are discussed at length in forums. Reading and analyzing forums is useful for both clinicians and scientists. In addition, the relative ease of forum analysis lowers the bar for entry into the research process.

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5. Cao S, Zhang Z, Liu L, Li Y, Li W, Li Y, Wu D. Causal relationships between atopic dermatitis and psychiatric disorders: a bidirectional two-sample Mendelian randomization study. BMC Psychiatry;2024 (Jan 3);24(1):16.

BACKGROUND: Observational studies have suggested the potential associations between atopic dermatitis (AD) and psychiatric disorders. However, the causal relationship between them remains uncertain. This study aimed to evaluate the potential bidirectional causal relationship between AD and psychiatric disorders, including autism spectrum disorder (ASD), major depressive disorder (MDD), attention deficit hyperactivity disorder (ADHD), bipolar disorder (BD), anorexia nervosa (AN), Tourette syndrome (TS), schizophrenia, and anxiety. METHODS: Bidirectional two-sample Mendelian randomization (MR) was employed to elucidate the causality between AD and psychiatric disorders, using summary statistics from the most comprehensive genome-wide association studies conducted on AD (N(cases) = 60,653, N(controls) = 804,329). Psychiatric disorders were derived from the Psychiatric Genomics Consortium and were independent of AD data sources. The MR analysis entailed the implementation of multiple methods, including the inverse variance weighted method, MR-Egger regression method, weighted median method, simple mode method, and weighted mode method. RESULTS: Bidirectional two-sample MR analysis uncovered significant causal associations between AD and severe psychiatric disorders. Specifically, liability to AD was associated with increased risk of ADHD (OR = 1.116; 95% CI: [1.009, 1.234]; P = 0.033) and ASD (OR = 1.131; 95% CI: [1.023, 1.251]; P = 0.016). Additionally, evidence suggested that liability to ADHD (OR = 1.112; 95% CI: [1.094, 1.130]; P = 9.20e-40), liability to AN (OR = 1.1; 95% CI: [1.068, 1.134]; P = 4.45e-10) and liability to BD (OR = 1.067; 95% CI: [1.009, 1.128]; P = 0.023) were associated with an increased risk of AD. Only the causal association between AD and ASD was independent of the reverse effect bias. These causal associations were robust and not affected by biases of heterogeneity and horizontal pleiotropy. CONCLUSIONS: Our study emphasizes the significant causal association between AD and an increased risk of ASD, and also identifying BD and AN as risk factors for AD.

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6. Coutelle R, Coulon N, Schröder CM, Putois O. Investigating the borders of autism spectrum disorder: lessons from the former diagnosis of pervasive developmental disorder not otherwise specified. Front Psychiatry;2023;14:1149580.

INTRODUCTION: Autism Spectrum Disorder (ASD) diagnosis is relatively consensual in typical forms. The margins of the spectrum and their degree of extension, however, are controversial. This has far-reaching implications, which extend beyond theoretical considerations: first, peripheral forms of autism are more prevalent than central forms; second, we do not know how relevant typical-targeted recommendations are for atypical forms. In DSM-IV-TR, these margins of autism were studied within the category of Pervasive Developmental Disorder – Not Otherwise Specified (PDD-NOS). In spite of its low reliability, this former diagnosis was of particular interest to shed light on the gray area of margins. The aim of this systematic is therefore to investigate the clinical characteristics of PDD-NOS in comparison with Autistic Disorder. METHOD: A stepwise systematic PRISMA literature review was conducted by searching PubMed and Web Of Science databases to select corresponding studies. RESULTS: The systematic review included 81 studies comprising 6,644 children with PDD-NOS. Cross-sectional and longitudinal studies comparing PDD-NOS and AD showed that PDD-NOS corresponds to milder form of autism with less impact and less associated disorder, with the exception of schizophrenia and mood disorder. DISCUSSION: Our review challenges initial views of PDD-NOS, and shows the clinical relevance of this diagnosis when dealing with the margins of autism, and the de facto diversity included in the spectrum. However, in view of the many limitations of PDD-NOS (low reliability, instability through time, low acceptability), we suggest taxonomic changes in DSM-5: we introduce a new category based on three main dimensions related to socialization impairment, emotional lability and psychotic symptoms. CONCLUSION: Our review argues for a distinction between AD and PDD-NOS on clinical characteristics and thus highlights the need to study the margins of autism. While the limitations of the PDD-NOS category made it irrelevant to investigate these margins from a research perspective, we believe that a multidimensional approach for mental health professionals taping socialization, emotion lability and psychotic symptoms would be interesting. Our review therefore encourage future studies to test relevant criteria for a new category and possibly identify developmental trajectories, specific interventions and treatments.

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7. Curran C, Roberts R, Gannoni A, Jeyaseelan D. Training and Educational Pathways for Clinicians (Post-graduation) for the Assessment and Diagnosis of Autism Spectrum Disorders: A Scoping Review. J Autism Dev Disord;2024 (Jan 4)

This review aimed to identify the post-graduation training pathways available for both clinicians and trainers in the assessment and diagnosis of Autism Spectrum Disorder (ASD). The study was guided by two research questions: What is known about ASD-specific educational, training, or other pathways available to support clinicians of any discipline, post-graduation, to meet the required expertise relevant to assessments of ASD concerns? What is known about the educational pathways available to clinicians seeking to provide training to other clinicians, post-graduation, in the assessment of ASD concerns? A scoping review was undertaken with searches completed across five databases (PubMed, PsycINFO, PsycEXTRA, ERIC and CINAHL). A Google search strategy was also executed using the « advanced » search function. Eligible records were literature, written in English, that examined post-graduation training and/ or education of clinicians to assess and/ or diagnose ASD. Fourteen relevant records were identified. Post-graduate training has the potential to enhance clinician confidence and service provision in ASD assessment and diagnosis. System-wide training approaches show promise in building large-scale, diagnostic capacity and the use of tele-mentoring offers a cost-effective, convenient mode of training delivery. A lack of evidence to support ASD diagnostic training pathways was found and may pose a challenge for clinicians and service users. The limited evidence found suggests that high quality research will be fundamental in determining how to build clinician capacity in ASD assessment and diagnosis and to ascertain whether training pathways are a necessary component.

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8. Dalwai SH, Rebello K, Joshi M. A Novel Comprehensive Approach Transforming Haircut Experiences in Autism. Indian J Pediatr;2024 (Jan 4)

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9. Dollion N, Poirier M, Auffret F, François N, Plusquellec P, Grandgeorge M. Effects of service dogs on children with ASD’s symptoms and parents’ well-being: On the importance of considering those effects with a more systemic perspective. PLoS One;2024;19(1):e0295702.

The integration of a service dog can have numerous benefits for children with Autism Spectrum Disorder (ASD). However, although integration takes place within a family, little is known about the dynamics of these benefits on the family microsystem. Thus, the aim of our study was to propose a more systemic perspective, not only by investigating the benefits of SD integration, but also by exploring the relationships between improvements in children with ASD, parents’ well-being, parenting strategies and the quality of the child-dog relationship. Twenty parent-child with ASD dyads were followed before, as well as 3 and 6 months after service dog integration. At each stage, parents completed an online survey which included: the Autism Behavior Inventory (ABI-S), the State-Trait Anxiety Inventory (STAI-Y), the Parenting Stress Index Short Version (PSI-SF), the Monash Dog Owner Relationship Scale (MDORS) and the Parenting Styles and Dimensions Questionnaire (PSDQ). First, repeated measure one-way ANOVAs revealed that both children’s ASD symptoms and parents’ anxiety decreased significantly after service dog integration. Additionally, Spearman correlations revealed that the more ASD symptoms decreased, the more parent’s anxiety and parenting stress also decreased. Second, the quality of the child-dog relationship appeared to contribute to those benefits on both children’s ASD symptoms and parents’ well-being. Interestingly, parenting strategies seemed to adapt according to these benefits and to the quality of the child-dog relationship. Through a more systemic perspective, this study highlighted that the integration of a service dog involved reciprocal and dynamic effects for children with ASD and their parents, and shed new light on the processes that may underlie the effects of a service dog for children with ASD.

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10. Fante C, De Luca Picione R, Dioni B, Manari T, Raffin C, Capelli F, Franceschini C, Lenzo V, Musetti A. Parental Quality of Life and Impact of Multidisciplinary Intervention for Children with Autism Spectrum Disorders: A Qualitative Study. J Autism Dev Disord;2024 (Jan 3)

The presence of a child with Autism Spectrum Disorder (ASD) in the family can have a negative impact on parental Quality of Life (QoL), but evidence on how treatments for children with ASD can affect parental QoL is currently limited. In this qualitative study, we develop a semi-structured interview in order to investigate the impact of ASD on the QoL of mothers and fathers from a subjective perspective, as well as the effect of the intervention on their QoL and adjustment process. The sample consisted of 31 parents of children with ASD severity 2 or 3, aged 5 to 11 years, undergoing a multidisciplinary intervention. In order to identify emerging themes from the interview transcripts, a Thematic Analysis was conducted using a bottom-up approach. We identified three main themes relating to parental QoL (ASD impact on QoL, useful external resources, QoL improvement-related factors) and five themes relating to parents’ views on the intervention (positive impact on parent, dissatisfaction with previous interventions, parental involvement, useful features, critical issues). The results provide indications of the process of parental adaptation and the components of interventions that foster an improvement in their QoL. In conclusion, living with a child with ASD can have a significant influence on a parents’ QoL, not just physically and emotionally, but also in terms of general goals, family structure, and social interactions.

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11. Gözaçan Karabulut D, Ayar D, Karasu F. The Relationship Between Solution-Focused Communication Skills and Perceived Social Support: A Descriptive Levels of Study of the Perceptions of Turkish Parents with of Children with Developmental Disabilities. Dev Neurorehabil;2024 (Jan 4):1-7.

PURPOSE: This descriptive, correlational study examined the relationship between solution-focused communication skills and perceived level of social support for parents of children with developmental disabilities. METHOD: One hundred and sixty one parents of children with developmental disabilities completed a researcher developed personal information form, the Solution Focality in Communication Scale, and the Revised Parental Social Support Scale. Data were analyzed using ANOVA, in independent groups, t tests, and correlation tests. RESULTS: Findings included a positive correlation between the Solution Focality in Communication Scale and the perceived level of social support of the Revised Parental Social Support Scale and the perceived social support satisfaction level sub-dimensions (p < .001). CONCLUSION: This descriptive study found a correlation between the level of solution-focused communication skills reported by parents of children with developmental disabilities, and the parent's improved perceptions of social support. In addition, parents reported increased satisfaction with the social support they had received as their solution-focused communication skills improved.

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12. Grönniger B, Kimpe K, Singh A, Sadowski G. Simultaneous Water Sorption and Crystallization in ASDs 1: Stability Studies Lasting for Two Years. Mol Pharm;2024 (Jan 3)

One way to increase the slow dissolution rate and the associated low bioavailability of newly developed active pharmaceutical ingredients (APIs) is to dissolve the API in a polymer, leading to a so-called amorphous solid dispersion (ASD). However, APIs are often supersaturated in ASDs and thus tend to crystallize during storage. The kinetics of the crystallization process is determined by the amount of water the ASD absorbs during storage at relative humidity (RH), storage temperature, polymer type, and the drug load of the ASD. Here, the crystallization kinetics and shelf life of spray-dried ASDs were investigated for ASDs consisting of nifedipine (NIF) or celecoxib (CCX) as the APIs and of poly(vinylpyrrolidone-co-vinyl acetate) or hydroxypropyl methylcellulose acetate succinate as polymers. Samples were stored over 2 years at different RHs covering conditions above and below the glass transition of the wet ASDs. Crystallization kinetics and onset time of the crystallization were qualitatively studied by using powder X-ray diffraction and microscopic inspection and were quantitatively determined by using differential scanning calorimetry. It was found that the NIF ASDs crystallize much faster than CCX ASDs at the same drug load and at the same storage conditions due to both higher supersaturation and higher molecular mobility in the NIF ASDs. Experimental data on crystallization kinetics were correlated using the Johnson-Mehl-Avrami-Kolmogorov equation. A detailed thermodynamic and kinetic modeling will be performed in Part 2 of this paper series.

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13. Jackson MA, Golini EJ. Lockdown Drills and Young Children with Autism Spectrum Disorder: Practitioner Confidence, Experiences, and Perceptions. J Autism Dev Disord;2024 (Jan 4)

Lockdown drill practice is part of the « new normal » in schools for young children with autism spectrum disorder (ASD) and educational practitioners in K-12 schools across the United States. These drills place a tremendous amount of responsibility on practitioners (i.e., teachers, paraprofessionals) that is beyond the scope of their training and typical requirements of their position in the classroom. Lockdown drills also require young children with ASD to engage in actions that are inherently hard for most young children but could be especially difficult for children with ASD who need individualized support to develop the executive function and self-regulation skills to participate in drills successfully. This study investigates practitioners’ training experiences and perceptions of perceived confidence in teaching young children with ASD lockdown drills. Practitioner’s self-efficacy was measured through survey analysis and their perceptions and experiences were investigated through individual interviews. Results indicated low rates of confidence to teach lockdown drills to young children with ASD and higher rates of confidence were correlated with more drill practice. Themes gleaned from interview data revealed varied training and practice experiences for children and practitioners, general characteristics of ASD that help or hinder children’s participation, connections between these characteristics and aspects of lockdown drills that make them difficult to teach, and identification of practitioner responsibilities beyond following protocols.

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14. Ku B, Ghim S. Poor Physical Health in Caregivers of Children with ADHD or ASD and its Association with Health Risk Behaviours: NHIS 2016-2018. Int J Behav Med;2024 (Jan 3)

BACKGROUND: There is a dearth of evidence regarding physical health problems and health risk behaviours (e.g., drinking, physical inactivity, smoking, and suboptimal sleep behaviour) in caregivers of children with attention deficit hyperactivity disorder or autism spectrum disorder (CCAA). The purposes of the current study were to examine differences in physical health problems between CCAA and caregivers of children without attention deficit hyperactivity disorder and autism spectrum disorder (CCWAA) and to explore health risk behaviours associated with those problems. METHOD: Data from the 2016-2018 National Health Interview Survey were used in the current study. 10 common physical health problems were compared between CCAA and CCWAA by using multivariable logistic regressions. In addition, in order to detect associated health risk behaviours, decision tree analysis was performed for physical health problems in CCAA. RESULTS: Of the 10 physical health problems, caregivers of children with ADHD showed significantly higher likelihood of experiencing nine (arthritis, asthma, back pain, high cholesterol, diabetes, heart problems, hypertension, neck pain, obesity), compared to CCWAA. Caregivers of children with autism spectrum disorder (ASD) showed significantly higher likelihoods of experiencing two physical health problems compared to CCWAA. The decision tree analysis revealed that age (> 42 years), and suboptimal sleep behaviour (not 7-8 hours), and smoking (current smoker) were the frequent predictors for physical health problems in CCAA. CONCLUSION: The results of the current study represent an important milestone in further investigating physical health problems in CCAA.

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15. Lei D, Zhang T, Wu Y, Li W, Li X. Correction to: Autism spectrum disorder diagnosis based on deep unrolling-based spatial constraint representation. Med Biol Eng Comput;2024 (Jan 4)

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16. Li S, May C, Pang TY, Churilov L, Hannan AJ, Johnson KA, Burrows EL. Mice with an autism-associated R451C mutation in neuroligin-3 show intact attention orienting but atypical responses to methylphenidate and atomoxetine in the mouse-Posner task. Psychopharmacology (Berl);2024 (Jan 3)

RATIONALE: Atypical attention orienting has been associated with some autistic symptoms, but the neural mechanisms remain unclear. The human Posner task, a classic attention orienting paradigm, was recently adapted for use with mice, supporting the investigation of the neurobiological underpinnings of atypical attention orienting in preclinical mouse models. OBJECTIVE: The current study tested mice expressing the autism-associated R451C gene mutation in neuroligin-3 (NL3) on the mouse-Posner (mPosner) task. METHODS: NL3(R451C) and wild-type (WT) mice were trained to respond to a validly or invalidly cued target on a touchscreen. The cue was a peripheral non-predictive flash in the exogenous task and a central spatially predictive image in the endogenous task. The effects of dopaminergic- and noradrenergic-modulating drugs, methylphenidate and atomoxetine, on task performance were assessed. RESULTS: In both tasks, mice were quicker and more accurate in the validly versus invalidly cued trials, consistent with results in the human Posner task. NL3(R451C) and WT mice showed similar response times and accuracy but responded differently when treated with methylphenidate and atomoxetine. Methylphenidate impaired exogenous attention disengagement in NL3(R451C) mice but did not significantly affect WT mice. Atomoxetine impaired endogenous orienting in WT mice but did not significantly affect NL3(R451C) mice. CONCLUSIONS: NL3(R451C) mice demonstrated intact attention orienting but altered responses to the pharmacological manipulation of the dopaminergic and noradrenergic networks. These findings expand our understanding of the NL3(R451C) mutation by suggesting that this mutation may lead to selective alterations in attentional processes.

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17. Liu QQ, Mi J, Du YY, Rong Z, Qin Y, Jiang W, Li X, Yu JY, Yang L, Du XY, Yang Q, Guo YY. Lotusine ameliorates propionic acid-induced autism spectrum disorder-like behavior in mice by activating D1 dopamine receptor in medial prefrontal cortex. Phytother Res;2024 (Jan 2)

Autism spectrum disorder (ASD) is a multifaceted neuropsychiatric condition for which effective drug therapy for core clinical symptoms remains elusive. Lotusine, known for its neuroprotective properties in the treatment of neurological disorders, holds potential in addressing ASD. Nevertheless, its specific efficacy in ASD remains uncertain. This study aims to investigate the therapeutic potential of lotusine in ASD and elucidate the underlying molecular mechanisms. We induced an ASD mouse model through intracerebroventricular-propionic acid (ICV-PPA) injection for 7 days, followed by lotusine administration for 5 days. The efficacy of lotusine was evaluated through a battery of behavioral tests, including the three-chamber social test. The underlying mechanisms of lotusine action in ameliorating ASD-like behavior were investigated in the medial prefrontal cortex (mPFC) using whole-cell patch-clamp recordings, western blotting, immunofluorescence staining, molecular docking, and cellular thermal shift assay. The efficacy and mechanisms of lotusine were further validated in vitro. Lotusine effectively alleviated social deficits induced by ICV-PPA injection in mice by counteracting the reduction in miniature excitatory postsynaptic current frequency within the mPFC. Moreover, lotusine enhanced neuronal activity and ameliorated α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor dysfunction in ICV-PPA infusion mice by upregulating c-fos, p-GluA1 Ser 845, and p-GluA1 Ser 831 protein levels within the mPFC. Our findings also suggest that lotusine may exert its effects through modulation of the D1 dopamine receptor (DRD1). Furthermore, the rescuing effects of lotusine were nullified by a DRD1 antagonist in PC12 cells. In summary, our results revealed that lotusine ameliorates ASD-like behavior through targeted modulation of DRD1, ultimately enhancing excitatory synaptic transmission. These findings highlight the potential of lotusine as a nutritional supplement in the treatment of ASD.

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18. Matsushima K, Kato T. An Exploratory Study on the Association between Atypical Behavioral Responses to Tickling and Autistic Traits in Japanese Children. Occup Ther Health Care;2024 (Jan 4):1-20.

Although play is an essential occupation for children, parents of children with autistic traits tend to struggle with play-based interpersonal interaction with them. Tickling play appears to be one of the most interpersonal forms of play because nobody can tickle themselves. However, atypical tactile processing (e.g. tactile sensitivity) has been reported in children with autistic traits, who may exhibit atypical behavioral responses during tickling play. Our aim was to investigate the association between autistic traits and behavioral responses during parent-child tickling play in Japanese young children. We recorded tickling interaction between children and their parents using behavior coding with six behavioral items. Autistic traits and tactile sensitivity were measured using parent-reported questionnaires. Results showed two behavioral responses were significantly associated with autistic traits in all children: « approach with positive emotional response » and « no response » were negatively and positively correlated with autistic traits, respectively. This exploratory study suggests that behavioral responses during tickling play may be associated with autistic traits.

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19. Mertens L, Vennekens J, Op de Beeck H, Yargholi E, Van den Stock J. [Artificial neural networks as a psychiatric instrument]. Tijdschr Psychiatr;2023;65(10):646-650.

BACKGROUND: Artificial intelligence (AI) has evolved enormously over the past decade and is increasingly being applied to a range of domains, including psychiatry. AI encompasses several modalities, including artificial neural networks (ANNs), referring to computer models partly based on the workings of the brain. ANNs have existed since the ’50s, but only became ‘mainstream’ since the 2010s. The fact that they are inspired by the workings of the brain raises the question of whether they can also be used to model the (dys)functioning of the brain. This question led to the advent of the research field ‘computational psychiatry’. AIM: This article aims at providing an accessible introduction to artificial neural networks, and potential applications hereof in contemporary psychiatric practice. METHOD: Literature review with some examples. RESULTS: In this article we try to outline with some concrete examples what artificial neural networks are and how they can be used to model mechanisms in the brain. We successively discuss ANNs as a model of the human visual system, as a model of prosopagnosia and as a model of auditory hallucinations and finally as a model of autism spectrum disorder. We also describe a number of limitations of this approach. CONCLUSION: A computer model that models the entire brain is challenging at present, but current models can help in testing hypotheses concerning possible mechanisms that give rise to a wide range of neuropsychiatric conditions.

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20. Moerkerke M, Daniels N, Tibermont L, Tang T, Evenepoel M, Van der Donck S, Debbaut E, Prinsen J, Chubar V, Claes S, Vanaudenaerde B, Willems L, Steyaert J, Boets B, Alaerts K. Chronic oxytocin administration stimulates the oxytocinergic system in children with autism. Nat Commun;2024 (Jan 2);15(1):58.

Clinical efficacy of intranasal administration of oxytocin is increasingly explored in autism spectrum disorder, but to date, the biological effects of chronic administration regimes on endogenous oxytocinergic function are largely unknown. Here exploratory biological assessments from a completed randomized, placebo-controlled trial showed that children with autism (n = 79, 16 females) receiving intranasal oxytocin for four weeks (12 IU, twice daily) displayed significantly higher salivary oxytocin levels 24 hours after the last oxytocin nasal spray administration, but no longer at a four-week follow up session. Regarding salivary oxytocin receptor gene (OXTR) epigenetics (DNA-methylation), oxytocin-induced reductions in OXTR DNA-methylation were observed, suggesting a facilitation of oxytocin receptor expression in the oxytocin compared to the placebo group. Notably, heightened oxytocin levels post-treatment were significantly associated with reduced OXTR DNA-methylation and improved feelings of secure attachment. These findings indicate that four weeks of chronic oxytocin administration stimulated the endogenous oxytocinergic system in children with autism.

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21. Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. BMC Psychiatry;2024 (Jan 4);24(1):23.

BACKGROUND: Many rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder. Quality of life is often impaired due to irritability, aggression and self-injurious behavior, generally refractory to standard therapies. There are indications from previous (case) studies and patient reporting that cannabidiol (CBD) may be an effective treatment for severe behavioral manifestations in RGNDs. However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III), and Fragile X syndrome (FXS), using an innovative trial design. METHODS: We aim to conduct placebo-controlled, double-blind, block-randomized, multiple crossover N-of-1 studies with oral CBD (twice daily) in 30 patients (aged ≥ 6 years) with confirmed TSC, MPS III or FXS and severe behavioral manifestations. The treatment is oral CBD up to a maximum of 25 mg/kg/day, twice daily. The primary outcome measure is the subscale irritability of the Aberrant Behavior Checklist. Secondary outcome measures include (personalized) patient-reported outcome measures with regard to behavioral and psychiatric outcomes, disease-specific outcome measures, parental stress, seizure frequency, and adverse effects of CBD. Questionnaires will be completed and study medication will be taken at the participants’ natural setting. Individual treatment effects will be determined based on summary statistics. A mixed model analysis will be applied for analyzing the effectiveness of the intervention per disorder and across disorders combining data from the individual N-of-1 trials. DISCUSSION: These N-of-1 trials address an unmet medical need and will provide information on the effectiveness of CBD for severe behavioral manifestations in RGNDs, potentially generating generalizable knowledge at an individual-, disorder- and RGND population level. TRIAL REGISTRATION: EudraCT: 2021-003250-23, registered 25 August 2022, https://www.clinicaltrialsregister.eu/ctr-search/trial/2021-003250-23/NL .

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22. Narvekar N, Carter Leno V, Pasco G, Begum Ali J, Johnson MH, Charman T, Jones EJH. The roles of sensory hyperreactivity and hyporeactivity in understanding infant fearfulness and emerging autistic traits. J Child Psychol Psychiatry;2024 (Jan 3)

BACKGROUND: Existing evidence indicates that atypical sensory reactivity is a core characteristic of autism, and has been linked to both anxiety (and its putative infant precursor of fearfulness) and repetitive behaviours. However, most work has used cross-sectional designs and not considered the differential roles of hyperreactivity and hyporeactivity to sensory inputs, and is thus limited in specificity. METHODS: 161 infants with and without an elevated likelihood of developing autism and attention-deficit hyperactivity disorder (ADHD) were followed from 10 to 36 months of age. Parents rated an infant precursor of later anxiety (fearfulness) using the Infant Behaviour Questionnaire at 10 and 14 months, and the Early Childhood Behavioural Questionnaire at 24 months, and sensory hyperreactivity and hyporeactivity at 10, 14 and 24 months using the Infant Toddler Sensory Profile. Domains of autistic traits (restrictive and repetitive behaviours; RRB, and social communication interaction, SCI) were assessed using the parent-rated Social Responsiveness Scale at 36 months. Cross-lagged models tested (a) paths between fearfulness and hyperreactivity at 10-24 months, and from fearfulness and hyperreactivity to later autism traits, (b) the specificity of hyperreactivity effects by including hyporeactivity as a correlated predictor. RESULTS: Hyperreactivity at 14 months was positively associated with fearfulness at 24 months, and hyperreactivity at 24 months was positively associated with SCI and RRB at 36 months. When hyporeactivity was included in the model, paths between hyperreactivity and fearfulness remained, but paths between hyperreactivity and autistic traits became nonsignificant. CONCLUSIONS: Our findings indicate that alterations in early sensory reactivity may increase the likelihood of showing fearfulness in infancy, and relate to later social interactions and repetitive behaviours, particularly in individuals with a family history of autism or ADHD.

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23. Nitheesha V, Rao JSM, Reddy M, Nagarajan K, Narayan SK, Kandasamy P, Chandrasekharan V. Clinicoradiological Profile of Incomplete Hippocampal Inversion Diagnosed on MR Neuroimaging. Neurol India;2023 (Nov-Dec);71(6):1211-1216.

BACKGROUND AND PURPOSE: Incomplete hippocampal inversion (IHI) is a developmental failure of normal hippocampal inversion. Previous studies have described IHI in epilepsy and non-epilepsy subjects. IHI has also been reported with malformations of cortical development (MCDs) and corpus callosal agenesis that have association with neuropsychiatric disorders such as autism spectrum disorder (ASD). This study aims to describe the clinical profile of magnetic resonance imaging (MRI)-diagnosed IHI. MATERIALS AND METHODS: We studied patients with IHI who were identified after a retrospective review of the MRI archives of the past 3 years. The MRI findings of partial and total IHI were included. The clinical profiles associated with IHI were classified into epilepsy and non-epilepsy categories. RESULTS: A retrospective review of MRI done over 3 years revealed 54 cases of IHI (32 left-sided, 20 bilateral, and 2 isolated right-sided), and out of 74 IHI, 59 were of total type and 15 partial. Thirty-six subjects (61.1%) had epilepsy (9 with neurodevelopmental problems), 17 subjects (31.5%) had ASD, and 4 subjects (7.4%) had only neurodevelopmental disorders. MCDs were seen in 7 (12.9%): polymicrogyria (4), periventricular heterotopia (2), and pachygyria (1). Hippocampal volume loss was seen in 10, and contralateral mesial temporal sclerosis was seen in 2 patients. CONCLUSION: Hippocampal inversion has been reported in MRI scans of patients with epilepsy, ASD, MCDs, and many other related disorders. Further studies are required to know its occurrence among patients who get MRI scans due to many other disorders such as headaches, psychiatric disorders, minor hear trauma, and perinatal insults. If possible, studies among normal populations also need to be done.

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24. Oshima F, Takahashi T, Tamura M, Guan S, Seto M, Hull L, Mandy W, Tsuchiya K, Shimizu E. The association between social camouflage and mental health among autistic people in Japan and the UK: a cross-cultural study. Mol Autism;2024 (Jan 4);15(1):1.

BACKGROUND: To examine the relationship between social camouflage and mental health in Japanese autistic adults and make an international comparison with a sample from the UK. METHODS: This study analysed secondary data of participants with a self-reported diagnosis of autism from Japan (N = 210; 123 men and 87 women) and the UK (N = 305; 181 women, 104, men, and 18 nonbinary). The relationships between the quadratic term of the Camouflaging Autistic Traits Questionnaire and mental health scales, including depression and anxiety, were assessed. RESULTS: The UK sample showed linear relationships, whereas the Japanese sample showed significant nonlinear relationships. The quadratic terms of the Camouflaging Autistic Traits Questionnaire slightly explained generalised anxiety (β = .168, p = .007), depression (β = .121, p = .045), and well-being (β = - .127, p = .028). However, they did not explain the association between social anxiety and the Camouflaging Autistic Traits Questionnaire. LIMITATIONS: Participants had self-reported diagnoses, and while the autism-spectrum quotient provides a cut-off value for screening, it does not enable confirming diagnoses. Mean scores of the Japanese version of the Camouflaging Autistic Traits Questionnaire were lower as compared to the original CAT-Q, which implies that the social camouflage strategy types used by autistic people in Japan and the UK could differ. The cross-sectional design limits causal inferences. CONCLUSION: In the UK, more social camouflage was associated with poorer mental health scores, whereas too little or too much social camouflage was associated with a low mental health score in Japan. The Japanese population is seemingly less aware of and educated on autistic characteristics and considers ‘average’ behaviour a good thing. This could influence Japanese autistic people’s social camouflage use, differing from that of autistic people in the UK. The differences in the relationship between social camouflage and mental health between Japan and the UK could be associated with national-level divergence regarding the culture of autism.

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25. Persichetti AS, Shao J, Gotts SJ, Martin A. A functional parcellation of the whole brain in individuals with autism spectrum disorder reveals atypical patterns of network organization. bioRxiv;2023 (Dec 18)

BACKGROUND: Researchers studying autism spectrum disorder (ASD) lack a comprehensive map of the functional network topography in the ASD brain. We used high-quality resting state functional MRI (rs-fMRI) connectivity data and a robust parcellation routine to provide a whole-brain map of functional networks in a group of seventy individuals with ASD and a group of seventy typically developing (TD) individuals. METHODS: The rs-fMRI data were collected using an imaging sequence optimized to achieve high temporal signal-to-noise ratio (tSNR) across the whole-brain. We identified functional networks using a parcellation routine that intrinsically incorporates stability and replicability of the networks by keeping only network distinctions that agree across halves of the data over multiple random iterations in each group. The groups were tightly matched on tSNR, in-scanner motion, age, and IQ. RESULTS: We compared the maps from each group and found that functional networks in the ASD group are atypical in three seemingly related ways: 1) whole-brain connectivity patterns are less stable across voxels within multiple functional networks, 2) the cerebellum, subcortex, and hippocampus show weaker differentiation of functional subnetworks, and 3) subcortical structures and the hippocampus are atypically integrated with the neocortex. CONCLUSIONS: These results were statistically robust and suggest that patterns of network connectivity between the neocortex and the cerebellum, subcortical structures, and hippocampus are atypical in ASD individuals.

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26. Pickard K, Maddox B, Boles R, Reaven J. A cluster randomized controlled trial comparing the effectiveness of two school-based interventions for autistic youth with anxiety. BMC Psychiatry;2024 (Jan 2);24(1):6.

BACKGROUND: Recent systematic reviews have indicated that cognitive behavioral therapy (CBT) is effective in reducing anxiety symptoms for autistic and non-autistic children. However, the vast majority of CBT research for autistic youth has been implemented within university settings and primarily by mental health providers. Schools hold great promise to equitably manage the mental health symptoms of autistic youth. Although preliminary research evaluating CBT within schools has been promising, CBT has not yet been compared to another readily available school mental health program. The goal of this protocol paper is to describe a multi-site study comparing two school-based interventions, Facing Your Fears-School Based (FYF-SB) and Zones of Regulation (ZOR) via a cluster randomized controlled type 1 hybrid effectiveness-implementation trial to determine which of the two interventions will best support autistic youth with anxiety in schools. METHODS: Up to 100 elementary and middle schools will be randomized into FYF-SB or ZOR. Once schools are randomized, a minimum of two interdisciplinary school providers at each school will be trained to deliver either FYF-SB or ZOR over the course of 12 weeks to groups of 2-5 autistic students ages 8-14 years. Over the course of two years, a total of 200 autistic students will receive either ZOR or FYF-SB. The primary outcome of this trial is child anxiety, as rated by masked evaluators and via caregiver- and student-report, which will be measured at baseline, post-treatment, and 6-month follow-up. Semi-structured interviews will also be conducted with a purposive sample of students, caregivers, and school providers to understand the acceptability, appropriateness, and feasibility of either ZOR or FYF-SB. Stakeholder engagement is a central component of this project via two stakeholder advisory boards that will directly inform and oversee the project. DISCUSSION: Results of this study will provide evidence about the relative impact of two school-based mental health interventions on outcomes reported as meaningful by caregivers and school providers. The additional focus on evaluating factors that support the implementation of FYF-SB and ZOR will allow future studies to test targeted implementation strategies that support mental health programming uptake and implementation within public schools. TRIAL REGISTRATION: This trial is registered with clinicaltrials.gov (NCT05863520).

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27. Silvestri R, Di Perri MC. Is iron depletion the only cause of motor restlessness in restless sleep presenting in autism spectrum disorder?. J Clin Sleep Med;2024 (Jan 4)

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28. Song J, Reilly M, Reichow B. Overview of Meta-Analyses on Naturalistic Developmental Behavioral Interventions for Children with Autism Spectrum Disorder. J Autism Dev Disord;2024 (Jan 3)

We conducted an overview of reviews to determine the effects of naturalistic developmental behavioral interventions (NDBIs; Schreibman et al. (2015) J Autism Dev Disorders 45:2411-2428) on children with autism spectrum disorder under 8 years old. We conducted an electronic database search of Academic Search Premier, CINHAL, ERIC, Medline, and APA PsycINFO in October 2022 and August 2023 and utilized snowball methods to locate relevant reviews of NDBI. We included reviews meeting the following inclusion criteria: (1) review included a meta-analytic synthesis for at least one child outcome; (2) primary studies examined a NDBI; (3) primary studies included children with ASD with a mean pre-treatment age under eight years; (4) primary studies were conducted using a two-group comparison design; and (5) review was published in English. We extracted data on characteristics of the review, participant characteristics from the primary studies, intervention characteristics, and assessed the risk of bias of the included reviews. We conducted a narrative synthesis across outcomes reported in the included reviews. We included five reviews from six reports in this overview. Two reviews included studies that examined the Early Start Denver Model, two reviews included studies that examined the Pivotal Response Treatment, and one review included studies examining NDBIs collectively. We found positive effects of NDBIs on child’s communication/language, cognition, and adaptive behavior. We found mixed effects for NDBIs on autism symptomatology and restricted and repetitive behaviors. Examination of moderator analyses reported in the included reviews suggested variables influencing the effects of NDBIs included proximity of outcome to intervention, boundedness of outcome to intervention, and study location. As shown in this overview, positive effects of NDBI for young children with ASD are supported by meta-analytic evidence. While the overall findings for NDBI across reviews are positive, the findings on specific outcomes and influential variables moderating the effects of NDBI are inconsistent. Additional evidence from randomized controlled trials and future meta-analyses are needed to strengthen our knowledge of the effects of NDBI for young children with ASD.Protocol Registration: PROSPERO CRD42022353045.

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29. Su TY, Huang YC, Ko JY, Hsin YJ, Yu MY, Hung PL. Therapeutic effects of extracorporeal shock wave therapy on patients with spastic cerebral palsy and Rett syndrome: clinical and ultrasonographic findings. Orphanet J Rare Dis;2024 (Jan 3);19(1):6.

BACKGROUND: Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, this study aimed to investigate the effects of ESWT on these two diseases. MATERIAL AND METHODS: Patients diagnosed with spastic CP and Rett syndrome received 1500 impulses of ESWT at 4 Hz and 0.1 mJ/mm(2), on their spastic legsonce weekly for a total of 12 weeks. Outcomes were assessed before and 4 and 12 weeks after ESWT. Clinical assessments included the Modified Ashworth Scale (MAS), passive range of motion (PROM), and Gross Motor Function Measure 88 (GMFM-88). Ultrasonographic assessments included muscle thickness, acoustic radiation force impulse (ARFI), and strain elastography. RESULTS: Fifteen patients with CP and six with Rett syndrome were enrolled in this study. After ESWT, patients with CP showed significant clinical improvement in the MAS (P = 0.011), ankle PROM (P = 0.002), walking/running/jumping function (P = 0.003), and total function (P < 0.001) of the GMFM-88. The patients with Rett syndrome showed improved MAS scores (P = 0.061) and significantly improved total gross motor function (P = 0.030). Under ARFI, patients with CP demonstrated decreased shear wave speed in the gastrocnemius medial head (P = 0.038). Conversely, patients with Rett syndrome show increased shear-wave speeds after ESWT. CONCLUSION: Our study provides evidence that a weekly course of low-dose ESWT for 12 weeks is beneficial for children with both CP and Rett syndrome, with the clinical effects of reducing spasticity and improving the gross motor function of the lower limbs. The ARFI sonoelastography reveals improvement of muscle stiffness in patients with CP after ESWT, but deteriorated in patients with Rett syndrome. The diverse therapeutic response to ESWT may be caused by the MECP2 mutation in Rett syndrome, having a continuous impact and driving the pathophysiology differently as compared to CP, which is secondary to a static insult. Trial registration IRB 201700462A3. Registered 22March 2017, https://cghhrpms.cgmh.org.tw/HRPMS/Default.aspx .

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30. Tamaoki Y, Pasapula V, Chandler C, Borland MS, Olajubutu OI, Tharakan LS, Engineer CT. Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats. J Neurodev Disord;2024 (Jan 2);16(1):2.

BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology. Therefore, the objective of this study is to characterize inferior colliculus (IC) responses to different sounds in rats prenatally exposed to VPA compared to saline-exposed rats. METHODS: In vivo extracellular multiunit recordings from the inferior colliculus were collected in response to tones, speech sounds, and noise burst trains. RESULTS: Our results indicate that the overall response to speech sounds was degraded in VPA-exposed rats compared to saline-exposed controls, but responses to tones and noise burst trains were unaltered. CONCLUSIONS: These results are consistent with observations in individuals with autism that neural responses to complex sounds, like speech, are often altered, and lays the foundation for future studies of potential therapeutics to improve auditory processing in the VPA rat model of ASD.

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31. Tan X, Zhu B, Li Y, Huang Y. An ambulatory dental treatment of a child with Rett syndrome and limited mouth opening under muscle relaxant-free general anesthesia: a case report. BMC Anesthesiol;2024 (Jan 2);24(1):3.

BACKGROUND: Rett Syndrome (RTT) is a rare, severe, and progressive developmental disorder with intellectual disability. Anesthesia in RTT patients presents a range of challenges. We report a child with RTT who received dental treatment under muscle relaxant-free general anesthesia in our ambulatory center. CASE PRESENTATION: A 15-year-old girl with RTT was admitted to our dental clinic with multiple dental caries and residual roots. Dental treatment was scheduled under ambulatory general anesthesia. After anesthesia induction, a nasal tube was initiated under the guidance of a fiberoptic bronchoscope. Multimodal analgesia, body temperature monitoring, and postoperative nausea and vomiting prevention were applied. No muscle relaxants were used throughout the process. The endotracheal tube was successfully removed after the operation and the patient was discharged home the same day. CONCLUSION: An individualized anesthesia strategy enabled a quick and safe recovery for this RTT patient after dental treatment under muscle relaxant-free general anesthesia.

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32. Tawankanjanachot N, Truesdale M, Orachon P, Kidd L. Social skills interventions for Thai adolescents with Autism Spectrum Disorder (ASD): a qualitative study of the perceptions and experiences of Thai adolescents, their caregivers and healthcare professionals. Int J Ment Health Syst;2024 (Jan 2);18(1):1.

BACKGROUND: Social skills interventions (SSIs) are effective for enhancing social skills and decreasing mental health problems in adolescents with autism spectrum disorder (ASD). However, these interventions have been designed and their effectiveness has been established in Western countries. Lack of culturally acceptable SSIs for Asian nations is a possible barrier to implementing effective and tailored interventions that address the unique requirements of ASD individuals across countries and cultures. This study aims to explore the needs and preferences of adolescents with ASD, their caregivers, and healthcare professionals (HPs) in Thailand regarding the components, delivery formats, and cultural adaptation required for an outpatient-based social skills intervention. METHODS: Qualitative data was collected via three focus groups of HPs (n = 20) and 24 paired interviews with adolescents with ASD and their caregivers from a child psychiatric hospital in Thailand. Purposive sampling was employed, and thematic analysis was used to analyse the data. RESULTS: Nine themes emerged from the data generated by HPs, and seven from adolescents with ASD and their caregivers. SSIs for Thai adolescents with ASD and their caregivers should emphasise specific social skills training and assess the abilities of adolescents as required. Incorporating various learning strategies is important. Parental involvement is essential and provides knowledge of an adolescent’s symptoms and coaching skills, which are best used to support their adolescents. Cultural considerations include the need for social knowledge of Thai culture, promoting assertiveness and praising parents’ abilities, implementing a programme in time to not interrupt academic achievement, and renaming a programme from social skills intervention to social communication intervention. Barriers to implementing a programme included HPs’ need for specialised training and education and decreased workload. Also, the caregivers’ and adolescents’ stigma reduced attendance in a programme. Increased extra compensation and relocation days off are provided as policy support for staff who deliver the intervention. CONCLUSION: The results suggest that SSIs for Thai adolescents with ASD should be tailored to meet the needs for specific knowledge, skills, and parental collaboration as coaches for their adolescents. Additionally, it should incorporate Thai culture. It is necessary to consider staff knowledge, workload, and stigma in order to reduce barriers to implementation in practice.

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33. Tiberi A, Borgonovo G, Testa G, Pacifico P, Jacob A, Di Caprio M, Totaro V, Calvello M, Cattaneo A, Capsoni S. Reversal of neurological deficits by painless nerve growth factor in a mouse model of Rett syndrome. Brain;2024 (Jan 4);147(1):122-134.

Rett syndrome is a rare genetic neurodevelopmental disease, affecting 1 in over 10 000 females born worldwide, caused by de novo mutations in the X-chromosome-located methyl-CpG-binding protein 2 (MeCP2) gene. Despite the great effort put forth by the scientific community, a therapy for this devastating disease is still needed. Here, we tested the therapeutic effects of a painless mutein of the nerve growth factor (NGF), called human NGF painless (hNGFp), via a non-invasive intranasal delivery in female MeCP2+/- mice. Of note, previous work had demonstrated a broad biodistribution of hNGFp in the mouse brain by the nasal delivery route. We report that (i) the long-term lifelong treatment of MeCP2+/- mice with hNGFp, starting at 2 months of age, increased the chance of survival while also greatly improving behavioural parameters. Furthermore, when we assessed the phenotypic changes brought forth by (ii) a short-term 1-month-long hNGFp-treatment, starting at 3 months of age (right after the initial presentation of symptoms), we observed the rescue of a well known neuronal target population of NGF, cholinergic neurons in the medial septum. Moreover, we reveal a deficit in microglial morphology in MeCP2+/- mice, completely reversed in treated animals. This effect on microglia is in line with reports showing microglia to be a TrkA-dependent non-neuronal target cell population of NGF in the brain. To understand the immunomodulatory activity of hNGFp, we analysed the cytokine profile after hNGFp treatment in MeCP2+/- mice, to discover that the treatment recovered the altered expression of key neuroimmune-communication molecules, such as fractalkine. The overall conclusion is that hNGFp delivered intranasally can ameliorate symptoms in the MeCP2+/- model of Rett syndrome, by exerting strong neuroprotection with a dual mechanism of action: directly on target neurons and indirectly via microglia.

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34. Tripathi MK, Ojha SK, Kartawy M, Khaliulin I, Hamoudi W, Amal H. Mutations associated with autism lead to similar synaptic and behavioral alterations in both sexes of male and female mouse brain. Sci Rep;2024 (Jan 4);14(1):10.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder based on synaptic abnormalities. The estimated prevalence rate of male individuals diagnosed with ASD prevails over females is in a proportion of 4:1. Consequently, males remain the main focus in ASD studies in clinical and experimental settings. Meanwhile, some studies point to an underestimation of this disorder in females. In this work, we studied the sex differences of the synaptic and behavioral phenotypes of ASD mouse models. Juvenile male and female Shank3(Δ4-22) and Cntnap2(-/-) mutant mice and their WT littermates were used in the experiments. The animals were subjected to a Three-Chamber Sociability Test, then euthanized, and the whole cortex was used for the evaluation of the synaptic phenotype. Protein levels of glutamatergic (NR1) and GABAergic (GAD1 and VGAT) neuronal markers were measured. Protein level of synaptophysin (Syp) was also measured. Dendritic spine density in somatosensory neurons was analyzed by Golgi staining methods. Spine Density and GAD1, NR1, VGAT, and Syp levels were significantly reduced in Shank3(Δ4-22) and Cntnap2(-/-) mice compared to the control group irrespective of sex, indicating impaired synaptic development in the mutant mice. These results were consistent with the lack of differences in the three-chamber sociability test between male and female mice. In conclusion, female ASD mice of both mutations undergo similar synaptic aberrations as their male counterparts and need to be studied along with the male animals. Finally, this work urges the psychiatry scientific community to use both sexes in their investigations.

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35. Xu K, Sun Z, Qiao Z, Chen A. Diagnosing autism severity associated with physical fitness and gray matter volume in children with autism spectrum disorder: Explainable machine learning method. Complement Ther Clin Pract;2023 (Dec 30);54:101825.

PURPOSE: This study aimed to investigate the relationship between physical fitness, gray matter volume (GMV), and autism severity in children with autism spectrum disorder (ASD). Besides, we sought to diagnose autism severity associated with physical fitness and GMV using machine learning methods. METHODS: Ninety children diagnosed with ASD underwent physical fitness tests, magnetic resonance imaging scans, and autism severity assessments. Diagnosis models were established using extreme gradient boosting (XGB), random forest (RF), support vector machine (SVM), and decision tree (DT) algorithms. Hyperparameters were optimized through the grid search cross-validation method. The shapley additive explanation (SHAP) method was employed to explain the diagnosis results. RESULTS: Our study revealed associations between muscular strength in physical fitness and GMV in specific brain regions (left paracentral lobule, bilateral thalamus, left inferior temporal gyrus, and cerebellar vermis I-II) with autism severity in children with ASD. The accuracy (95 % confidence interval) of the XGB, RF, SVM, and DT models were 77.9 % (77.3, 78.6 %), 72.4 % (71.7, 73.2 %), 71.9 % (71.1, 72.6 %), and 66.9 % (66.2, 67.7 %), respectively. SHAP analysis revealed that muscular strength and thalamic GMV significantly influenced the decision-making process of the XGB model. CONCLUSION: Machine learning methods can effectively diagnose autism severity associated with physical fitness and GMV in children with ASD. In this respect, the XGB model demonstrated excellent performance across various indicators, suggesting its potential for diagnosing autism severity.

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36. Yoo LJH, Stefanovic N, Watchorn RE. Atopic Dermatitis and Autism: Tactile Hypersensitivity Impeding on Topical Therapy Use. Br J Dermatol;2024 (Jan 4)

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