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Prenatal SARS-CoV-2 infection may be a risk factor for neurological impairment. This study describes the neuromotor behavior of infants prenatally exposed to SARS-CoV-2 using gold standard tools for early detection of neurological impairment. Sixteen infants were included in this exploratory longitudinal study. Infants were assessed at 3 months using the Prechtl General Movement Assessment, and at 6 months using the Hammersmith Infant Neurological Examination. Infants might have presented neuromotor limitations at 3 months; however, they progressed to a low-risk outcome of neurological impairment at 6 months.

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STUDY OBJECTIVES: Sleep disturbances are common in neurodevelopmental disorders (NDDs), affecting patients and caregivers' quality of life. SYNGAP1-associated syndrome, a rare NDD, is marked by intellectual disability, developmental delay, epilepsy, and sleep issues. However, research on sleep quality in these individuals is limited. This study aimed to evaluate genetic variants, epilepsy, and sleep patterns in SYNGAP1-associated syndrome patients and their caregivers. METHODS: An online survey was applied to 11 caregivers of individuals diagnosed with SYNGAP1-associated syndrome. Specific clinical inquiries were included, addressing childbirth, previous surgeries, and medication use. Inquiries about epilepsy included type of epilepsy, type and frequency of seizures, anti-seizure medications, and complementary non-pharmacological treatments. Children's Sleep Habits Questionnaire (CSHQ) was applied to assess the patients' sleep profile. Pittsburgh Sleep Quality Index (PSQI) was used to evaluate the sleep quality of caregivers. RESULTS: Genetic analysis showed heterozygous mutations in SYNGAP1, often leading to loss of function. Epilepsy was present in 82% of participants, with 77.8% having drug-resistant seizures. Using the Children's Sleep Habits Questionnaire (CSHQ), 81.8% of patients exhibited poor sleep habits, including bedtime resistance, anxiety, night awakenings, parasomnias, and daytime sleepiness. Caregivers also reported poor sleep quality according to the Pittsburgh Sleep Quality Index (PSQI). CONCLUSIONS: This study highlights the high prevalence of epilepsy and sleep problems in SYNGAP1-associated syndrome, impacting both patients and caregivers. Further research is crucial to understand the syndrome's effects on sleep disturbances, emphasizing the need for targeted interventions to improve sleep quality in individuals with rare genetic syndromes and their caregivers.

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Autism Spectrum Disorder (ASD) encompasses a wide range of neurodevelopmental conditions characterized by deficits in social interaction, communication and behavior. Current pharmacological options are limited and feature significant side effects. In this study, we conducted a retrospective, observational, and cross-sectional cohort study to evaluate the effects of Cannabidiol (CBD)-dominant, full-spectrum cannabis extract, containing Tetrahydrocannabinol (THC) in a ratio of 33:1 (CBD:THC), on non-syndromic children and adolescents (5-18 years old) with moderate to severe ASD. Thirty volunteers were recruited, underwent neuropsychological evaluations and were treated with individualized doses of CBD-dominant extract. Clinical assessments were conducted by the designated clinician. Additionally, parents or caregivers were independently interviewed to assess perceived treatment effects. We found significant improvements in various symptomatic and non-symptomatic aspects of ASD, with minimal untoward effects, as reported by both clinical assessments and parental perceptions. The observed improvements included increased communicative skills, attention, learning, eye contact, diminished aggression and irritability, and an overall increase in both the patient's and family's quality of life. Despite its limitations, our findings suggest that treatment with full-spectrum CBD-dominant extract may be a safe and effective option for core and comorbid symptoms of ASD, and it may also increase overall quality of life for individuals with ASD and their families.

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The endocannabinoid system has been linked to various physiological and pathological processes, because it plays a neuromodulator role in the central nervous system. In this sense, cannabinoids have been used off-label for neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHA), as well as in Alzheimer's disease (AD), a more prevalent neurodegenerative disease. Thus, this study aims, through a comprehensive literature review, to arrive at a better understanding of the impact of cannabinoids in the therapeutic treatment of patients with ASD, ADHD, and Alzheimer's disease (AD). Overall, cannabis products rich in CBD displayed a higher therapeutic potential for ASD children, while cannabis products rich in THC have been tested more for AD therapy. For ADHD, the clinical studies are incipient and inconclusive, but promising. In general, the main limitations of the clinical studies are the lack of standardization of the cannabis-based products consumed by the participants, a lack of scientific rigor, and the small number of participants.

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Coffin-Siris syndrome (CSS) is one of the several causes of intellectual disability (ID) and, since its first description, has posed diagnostic challenges given its variability and phenotypic overlap with other alterations of chromatin-remodeling-associated syndromes. It is genetically heterogeneous, and causative mutations are detected in less than 70% of cases. The different subtypes of the syndrome described to date are caused by mutations in genes that encode subunits of the SWI/SNF chromatin-remodeling complex, which plays an essential role in the regulation of gene expression during embryogenesis. Whole exome sequencing (WES) has allowed the identification of pathogenic mutations in these genes, including ARID2 . ARID2 is one of the primary components of the SWI/SNF complex and has been associated with ID and phenotypes similar to CSS for the first time in 2015. Fifteen published case reports have identified loss-of-function mutations, suggesting that the underlying pathogenic disease mechanism is haploinsufficiency of ARID2 . We herein presented the case of an 8-year-old Chilean girl with clinical suspicion of CSS, in whom a novel frameshift variant in ARID2 was identified by WES. She was the first reported case in Latin America to our knowledge and her phenotype displays the main clinical features suggestive of CSS described in other patients with ARID2 variants. However, she did not present behavioral abnormalities, a characteristic frequently reported in the majority of patients with ARID2 variants, and also had some features, such as sparse scalp hair, which is frequently reported as a manifestation of CSS, but is uncommon in this new group of patients.

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Introduction: Rett syndrome (RTT, MIM #312750) is a rare genetic disorder that leads to developmental regression and severe disability and is caused by pathogenic variants in the MECP2 gene. The diagnosis of RTT is based on clinical features and, depending on resources and access, on molecular confirmation. There is scarce information on molecular diagnosis from patients in Latin America, mostly due to limited availability and coverage of genomic testing. This pilot study aimed to implement genomic testing and characterize clinical and molecular findings in a group of Chilean patients with a clinical diagnosis of RTT. Methods: Twenty-eight patients with suspected RTT underwent characterization of phenotypic manifestations and molecular testing using Clinical Exome SolutionTM CES_V2 by SOPHiA Genetics. Data was analyzed using the commercial bioinformatics platform, SOPHiA DDMTM. A virtual panel of 34 genes, including MECP2 and other genes that are in the differential diagnosis of RTT, was used to prioritize initial analyses, followed by evaluation of the complete exome sequence data. Results: Twelve patients (42.8% of participants) had variants in MECP2, of which 11 (39.2%) were interpreted as pathogenic/likely pathogenic (P/LP), thus confirming the diagnosis of RTT in them. Eight additional patients (28.5%) harbored ten variants in nine other genes. Four of these variants were interpreted as P/LP (14.2%) (GRIN2B, MADD, TRPM3 and ZEB2) resulting in alternative neurodevelopmental diagnoses, and six were considered of uncertain significance. No evident candidate variant was found for eight patients. Discussion: This study allowed to reach a diagnosis in half of the participants. The diagnosis of RTT was confirmed in over a third of them, while others were found to have alternative neurodevelopmental disorders. Further evaluation is needed to identify the cause in those with negative or uncertain results. This information is useful for the patients, families, and clinicians to guide clinical management, even more so since the development of novel therapies for RTT. We also show the feasibility of implementing a step-wide approach to genomic testing in a setting with limited resources.

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Brain disturbances during development can have a lasting impact on neural function and behavior. Seizures during this critical period are linked to significant long-term consequences such as neurodevelopmental disorders, cognitive impairments, and psychiatric symptoms, resulting in a complex spectrum of multimorbidity. The hippocampus-prefrontal cortex (HPC-PFC) circuit emerges as a potential common link between such disorders. However, the mechanisms underlying these outcomes and how they relate to specific behavioral alterations are unclear. We hypothesized that specific dysfunctions of hippocampal-cortical communication due to early-life seizure would be associated with distinct behavioral alterations observed in adulthood. Here, we performed a multilevel study to investigate behavioral, electrophysiological, histopathological, and neurochemical long-term consequences of early-life Status epilepticus in male rats. We show that adult animals submitted to early-life seizure (ELS) present working memory impairments and sensorimotor disturbances, such as hyperlocomotion, poor sensorimotor gating, and sensitivity to psychostimulants despite not exhibiting neuronal loss. Surprisingly, cognitive deficits were linked to an aberrant increase in the HPC-PFC long-term potentiation (LTP) in a U-shaped manner, while sensorimotor alterations were associated with heightened neuroinflammation, as verified by glial fibrillary acidic protein (GFAP) expression, and altered dopamine neurotransmission. Furthermore, ELS rats displayed impaired HPC-PFC theta-gamma coordination and an abnormal brain state during active behavior resembling rapid eye movement (REM) sleep oscillatory dynamics. Our results point to impaired HPC-PFC functional connectivity as a possible pathophysiological mechanism by which ELS can cause cognitive deficits and psychiatric-like manifestations even without neuronal loss, bearing translational implications for understanding the spectrum of multidimensional developmental disorders linked to early-life seizures.

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Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3-4% of the world's population. Modern platforms for CMA, also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH). These regions result from complete or segmental chromosomal homozygosis and may be indicative of uniparental disomy (UPD), inbreeding, population characteristics, as well as replicative DNA repair events. In this retrospective study, we analyzed CMA reading files requested by geneticists and neurologists for diagnostic purposes along with available clinical data. Our objectives were interpreting CNVs and assess the frequencies and implications of LCSH detected by Affymetrix CytoScan HD (41%) or 750K (59%) platforms in 1012 patients from the south of Brazil. The patients were mainly children with NDDs and/or congenital anomalies (CAs). A total of 206 CNVs, comprising 132 deletions and 74 duplications, interpreted as pathogenic, were found in 17% of the patients in the cohort and across all chromosomes. Additionally, 12% presented rare variants of uncertain clinical significance, including LPCNVs, as the only clinically relevant CNV. Within the realm of NDDs, ASD carries a particular importance, owing to its escalating prevalence and its growing repercussions for individuals, families, and communities. ASD was one clinical phenotype, if not the main reason for referral to testing, for about one-third of the cohort, and these patients were further analyzed as a sub-cohort. Considering only the patients with ASD, the diagnostic rate was 10%, within the range reported in the literature (8-21%). It was higher (16%) when associated with dysmorphic features and lower (7%) for "isolated" ASD (without ID and without dysmorphic features). In 953 CMAs of the whole cohort, LCSH (≥ 3 Mbp) were analyzed not only for their potential pathogenic significance but were also explored to identify common LCSH in the South Brazilians population. CMA revealed at least one LCSH in 91% of the patients. For about 11.5% of patients, the LCSH suggested consanguinity from the first to the fifth degree, with a greater probability of clinical impact, and in 2.8%, they revealed a putative UPD. LCSH found at a frequency of 5% or more were considered common LCSH in the general population, allowing us to delineate 10 regions as potentially representing ancestral haplotypes of neglectable clinical significance. The main referrals for CMA were developmental delay (56%), ID (33%), ASD (33%) and syndromic features (56%). Some phenotypes in this population may be predictive of a higher probability of indicating a carrier of a pathogenic CNV. Here, we present the largest report of CMA data in a cohort with NDDs and/or CAs from the South of Brazil. We characterize the rare CNVs found along with the main phenotypes presented by each patient and show the importance and usefulness of LCSH interpretation in CMA results that incorporate SNPs, as well as we illustrate the value of CMA to investigate CNV in ASD.

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OBJECTIVE: This study aims to investigate the relationship between the Developmental Surveillance Instrument -Instrumento de Vigilância do Desenvolvimento (IVD), found in the Child's Booklet Caderneta da Crianca (CC), and standardized scales: Alberta Infant Motor Scale (AIMS) and Denver Developmental Screening Test (Denver-II). METHODS: Employing an exploratory observational approach, we adopted a prospective longitudinal design with a quantitative approach. The convenience sample included 83 Brazilian children born between May and August 2019 in a public hospital. Of the total, 45 (54.22 %) were male, and 38 (45.78 %) were female. Developmental screening utilized the IVD, AIMS and Denver-II tests. Comparative analysis between groups employed Mann-Whitney or Kruskal-Wallis tests for numerical variables and chi-square/Fisher tests for categorical variables, with a significance level of 5 % (p < 0.05). RESULTS: A significant correlation was observed between the IVD and the AIMS and Denver-II tests (p < 0.001) at months 1, 4, and 8. CONCLUSION: The presence of a robust correlation between the IVD and the AIMS and Denver-II tests at months 1, 4, and 8 implies that the IVD in the Child's Booklet serves as a reliable and effective indicator for screening infant development during this critical period. Detecting issues early through these methods is crucial to ensure the well-being of children, allowing for appropriate interventions as needed.

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Introducción. Se describen los resultados preliminares del Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional (PASITO) en niños y niñas con trastornos del neurodesarrollo (NN-TND), de 3 a 10 años, y con insomnio; realizado entre junio de 2020 y septiembre de 2021. Población y métodos. Estudio cuasiexperimental de preintervención y posintervención con un grupo de intervención y otro grupo de control, medido por el Cuestionario de Hábitos de Sueño (CHS) y el Diario de Sueño (DS). Resultados. Participaron 22 NN-TND, 8 en el grupo control. El puntaje total del CHS del grupo de intervención mejoró (p <0,001) de 54,9 (DE 5,5) a 48,4 (DE 4,5) y se acercó al rango de referencia 42,6 (DE 4,9). El DS evidenció aumento en duración, adelanto de fase de sueño y reducción en cantidad de despertares. Conclusión. Estos resultados provisorios y favorables muestran que PASITO podría ser una intervención posible para dificultades del sueño en NN-TND

Introduction. Here we describe the interim results of the Program to Support Child Sleep from the Occupational Therapy Perspective (Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional, PASITO) for children with neurodevelopmental disorders (NDDs) aged 3­10 years with insomnia, conducted between June 2020 and September 2021. Population and methods. Pre- and post-intervention quasi-experiment in an intervention group and a control group using the Sleep Habits Questionnaire (SHQ) and the Consensus Sleep Diary (CSD). Results. A total of 22 children with NDDs participated, 8 in the control group. The overall SHQ score for the intervention group improved (p < 0.001) from 54.9 (SD: 5.5) to 48.4 (SD: 4.5) and moved closer to the reference range of 42.6 (SD: 4.9). The CSD showed an increased sleep duration, earlier sleep onset, and fewer night wakings. Conclusion. These interim favorable results demonstrate that the PASITO may be a possible intervention to manage sleep problems in children with NDDs.

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OBJECTIVE: To assess the association between clinical chorioamnionitis and neurodevelopmental disorders at 5 years of age in children born preterm. STUDY DESIGN: EPIPAGE 2 is a national, population-based cohort study of children born before 35 weeks of gestation in France in 2011. We included infants born alive between 240/7 and 346/7 weeks after preterm labor or preterm premature rupture of membranes. Clinical chorioamnionitis was defined as maternal fever before labor (>37.8°C) with ≥2 of the following criteria: maternal tachycardia, hyperleukocytosis, uterine contractions, purulent amniotic fluid, or fetal tachycardia. The primary outcome was a composite, including cerebral palsy, coordination disorders, cognitive disorders, sensory disorders, or behavioral disorders. We also analyzed each of these disorders separately as secondary outcomes. We performed a multivariable analysis using logistic regression models. We accounted for the nonindependence of twins and missing data by generalized estimating equation models and multiple imputations, respectively. RESULTS: Among 2927 children alive at 5 years of age, 124 (3%) were born in a context of clinical chorioamnionitis. Overall, 8.2% and 9.6% of children exposed and unexposed, respectively, to clinical chorioamnionitis had moderate-to-severe neurodevelopmental disorders. After multiple imputations and multivariable analysis, clinical chorioamnionitis was not associated with the occurrence of moderate-to-severe neurodevelopmental disorders (aOR, 0.9; 95% CI, 0.5-1.8). CONCLUSIONS: We did not find any association between clinical chorioamnionitis and neurodevelopmental disorders at 5 years of age in children born at <35 weeks of gestation after preterm labor or preterm premature rupture of membrane.

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Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations in brain development and functioning. Given the extensive genetic heterogeneity of microcephaly, managing patients is hindered by the broad spectrum of diagnostic possibilities that exist before conducting molecular testing. We investigated the genetic basis of syndromic microcephaly accompanied by NDD in a Brazilian cohort of 45 individuals and characterized associated clinical features, as well as evaluated the effectiveness of whole-exome sequencing (WES) as a diagnostic tool for this condition. Patients previously negative for pathogenic copy number variants underwent WES, which was performed using a trio approach for isolated index cases (n = 31), only the index in isolated cases with parental consanguinity (n = 8) or affected siblings in familial cases (n = 3). Pathogenic/likely pathogenic variants were identified in 19 families (18 genes) with a diagnostic yield of approximately 45%. Nearly 86% of the individuals had global developmental delay/intellectual disability and 51% presented with behavioral disturbances. Additional frequent clinical features included facial dysmorphisms (80%), brain malformations (67%), musculoskeletal (71%) or cardiovascular (47%) defects, and short stature (54%). Our findings unraveled the underlying genetic basis of microcephaly in half of the patients, demonstrating a high diagnostic yield of WES for microcephaly and reinforcing its genetic heterogeneity. We expanded the phenotypic spectrum associated with the condition and identified a potentially novel gene (CCDC17) for congenital microcephaly.

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DEAD-box helicases are global regulators of liquid-liquid phase separation (LLPS), a process that assembles membraneless organelles inside cells. An outstanding member of the DEAD-box family is DDX3X, a multi-functional protein that plays critical roles in RNA metabolism, including RNA transcription, splicing, nucleocytoplasmic export, and translation. The diverse functions of DDX3X result from its ability to bind and remodel RNA in an ATP-dependent manner. This capacity enables the protein to act as an RNA chaperone and an RNA helicase, regulating ribonucleoprotein complex assembly. DDX3X and its orthologs from mouse, yeast (Ded1), and C. elegans (LAF-1) can undergo LLPS, driving the formation of neuronal granules, stress granules, processing bodies or P-granules. DDX3X has been related to several human conditions, including neurodevelopmental disorders, such as intellectual disability and autism spectrum disorder. Although the research into the pathogenesis of aberrant biomolecular condensation in neurodegenerative diseases is increasing rapidly, the role of LLPS in neurodevelopmental disorders is underexplored. This review summarizes current findings relevant for DDX3X phase separation in neurodevelopment and examines how disturbances in the LLPS process can be related to neurodevelopmental disorders.

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Introduction. Here we describe the interim results of the Program to Support Child Sleep from the Occupational Therapy Perspective (Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional, PASITO) for children with neurodevelopmental disorders (NDDs) aged 3-10 years with insomnia, conducted between June 2020 and September 2021. Population and methods. Pre- and post-intervention quasi-experiment in an intervention group and a control group using the Sleep Habits Questionnaire (SHQ) and the Consensus Sleep Diary (CSD). Results. A total of 22 children with NDDs participated, 8 in the control group. The overall SHQ score for the intervention group improved (p < 0.001) from 54.9 (SD: 5.5) to 48.4 (SD: 4.5) and moved closer to the reference range of 42.6 (SD: 4.9). The CSD showed an increased sleep duration, earlier sleep onset, and fewer night wakings. Conclusion. These interim favorable results demonstrate that the PASITO may be a possible intervention to manage sleep problems in children with NDDs.

Introducción. Se describen los resultados preliminares del Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional (PASITO) en niños y niñas con trastornos del neurodesarrollo (NN-TND), de 3 a 10 años, y con insomnio; realizado entre junio de 2020 y septiembre de 2021. Población y métodos. Estudio cuasiexperimental de preintervención y posintervención con un grupo de intervención y otro grupo de control, medido por el Cuestionario de Hábitos de Sueño (CHS) y el Diario de Sueño (DS). Resultados. Participaron 22 NN-TND, 8 en el grupo control. El puntaje total del CHS del grupo de intervención mejoró (p <0,001) de 54,9 (DE 5,5) a 48,4 (DE 4,5) y se acercó al rango de referencia 42,6 (DE 4,9). El DS evidenció aumento en duración, adelanto de fase de sueño y reducción en cantidad de despertares. Conclusión. Estos resultados provisorios y favorables muestran que PASITO podría ser una intervención posible para dificultades del sueño en NN-TND.

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Severe mental illnesses (SMI) collectively affect approximately 20% of the global population, as estimated by the World Health Organization (WHO). Despite having diverse etiologies, clinical symptoms, and pharmacotherapies, these diseases share a common pathophysiological characteristic: the misconnection of brain areas involved in reality perception, executive control, and cognition, including the corticolimbic system. Dendritic spines play a crucial role in excitatory neurotransmission within the central nervous system. These small structures exhibit remarkable plasticity, regulated by factors such as neurotransmitter tone, neurotrophic factors, and innate immunity-related molecules, and other mechanisms - all of which are associated with the pathophysiology of SMI. However, studying dendritic spine mechanisms in both healthy and pathological conditions in patients is fraught with technical limitations. This is where animal models related to these diseases become indispensable. They have played a pivotal role in elucidating the significance of dendritic spines in SMI. In this review, the information regarding the potential role of dendritic spines in SMI was summarized, drawing from clinical and animal model reports. Also, the implications of targeting dendritic spine-related molecules for SMI treatment were explored. Specifically, our focus is on major depressive disorder and the neurodevelopmental disorders schizophrenia and autism spectrum disorder. Abundant clinical and basic research has studied the functional and structural plasticity of dendritic spines in these diseases, along with potential pharmacological targets that modulate the dynamics of these structures. These targets may be associated with the clinical efficacy of the pharmacotherapy.

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ABSTRACT Objective: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. Case description: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar crease and arachnoid cyst. The microarray-based comparative genomic hybridization (a-CGH) identified copy number variations (CNVs) in five regions: 9q34.3, 6p22.1, Yq11.223, Yp11.23, and 2q24.1. The heterozygous microdeletion in 9q34.3 involving the EHMT1 gene confirms the diagnosis of KS. Comments: The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, single palmar fold and ligament laxity), compared to other individuals with only KS genetic alteration, making the dignosis of the disease harder.

RESUMO Objetivo: Relatar um caso raro de paciente com diagnóstico molecular de síndrome de Kleefstra (SK) que apresenta quatro outras alterações cromossômicas envolvendo variantes patogênicas. Descrição do caso: Paciente masculino, dois anos de idade, com atraso global de desenvolvimento neuropsicomotor, hipertelorismo ocular, fronte ampla, braquicefalia, hipotonia, frouxidão ligamentar, prega palmar única unilateral e cisto aracnoide. Exame de hibridização genômica comparativa (a-CGH) identificou variações de número de cópias (CNV) em cinco regiões: 9q34.3, 6p22.1, Yq11.223, Yp11.23 e 2q24.1. A microdeleção heterozigótica em 9q34.3 confirma o diagnóstico de síndrome de Kleefstra. Comentários: A presença das CNV patogênicas e/ou de significado incerto, localizadas nos cromossomos 2, 6 e Y, pode estar contribuindo para uma variabilidade no quadro clínico do paciente (cisto aracnoide, prega palmar única e frouxidão ligamentar) em relação a outros indivíduos somente com alteração genética da SK, dificultando o diagnóstico da doença.

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Misconceptions about how the brain works (neuromyths) are shown to be common among educators, but little is known about neurodevelopmental disorders (NDDs) neuromyths. Here, we explored the prevalence of both general and neurodevelopmental disorders neuromyths in Chilean teachers and other educational professionals. One hundred forty-four participants answered an online neuroscience knowledge, interest, and training questionnaire. Regression analysis showed that both teachers and non-teachers endorsed more neuromyths related to NDDs compared to general neuromyths and that familiarity with the NDDs but not necessarily neuroscience training or interest plays an important role in the endorsement of these neuromyths. The findings indicate that dyscalculia is the least known neurodevelopmental disorder. Although inclusion politics demand training for all educational actors, the current findings suggest effective translational efforts between neuroscience and education fields should continue.

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Autism spectrum disorder (ASD) is diagnosed based on socio-communicative difficulties, which are believed to result from deficits in mentalizing, mainly evidenced by alterations in recognizing and responding to the mental states of others. In recent years, efforts have been made to develop mentalization-based treatment (MBT) models for this population. These models focus on enhancing individuals' ability to understand and reflect on their own mental states, as well as those of others. However, MBT approaches for people with ASD are limited by their existing theoretical background, which lacks a strong foundation grounded in neuroscience-based evidence properly integrated with attachment, and mentalizing. These are crucial aspects for understanding psychological processes in autism, and as such, they play a pivotal role in shaping the development of tailored and effective therapeutic strategies for this specific population. In this paper we review evidence related to the neurobiological, interpersonal, and psychological dimensions of autism and their implications for mentalizing processes. We also review previous mentalization-based frameworks on the psychosis continuum to provide a comprehensive understanding of attachment, neurobiology, and mentalization domains in therapeutic approaches for autism. After presenting a synthesis of the literature, we offer a set of clinical strategies for the work with children with autism. Finally, we provide recommendations to advance the field towards more robust models that can serve as a basis for evidence-based therapeutic strategies.

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Neurodevelopmental disorders (NDD) are characterized by cognitive, emotional, and/or motor skills impairment since childhood, and sleep disturbances are a common comorbidity. Rubinstein-Taybi syndrome (RSTS), a rare genetic syndrome associated with NDD, is caused by CREBBP haploinsufficiency. This gene encodes an acetyltransferase with crucial role on the establishment of transcriptional programs during neurodevelopment. Although insomnia has been reported in RSTS patients, the convergent mechanisms between this sleep disturbance and CREBBP loss-of-function are not fully understood. We tested weather the genetic architecture underlying CREBBP regulatory targets and insomnia-associated genes is significantly shared. We then identified the biological pathways enriched among these shared genes. The intersection between CREBBP regulatory targets and genes associated with insomnia included 7 overlapping genes, indicating significantly more overlap than expected by chance. An over-representation analysis on these intersect genes identified pathways related to mitochondrial activity. This finding indicates that the transcriptional programs established by CREBBP might impact insomnia-related biological pathways through the modulation of energy metabolism. The overlapping gene set and biological pathways highlighted by this study may serve as a primer for new functional investigations of shared molecular mechanisms between insomnia and CREBBP regulatory targets.

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