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Aim: To conduct a bibliometric analysis of the top 100 most-cited papers in dentistry for individuals with neurodevelopmental disorders., Methods and Results: A search strategy was constructed and conducted at the Web of Science in the category of "Dentistry, Oral Surgery, and Medicine". The following information was extracted from each paper: title, authorship, year of publication, title of the journal, study subject, study design, age range of sample participants, type of disability, institution, country and continent, number of citations and citation density. Google Scholar and Scopus were used to crosscheck the number of citations of the most-cited papers. The VOSviewer software was used to generate bibliometric network maps. The papers received 4453 citations in Web of Science, ranging from 30 to 106 citations. Most papers were published by the USA (35%), had an observational design (78%) and the main subject was epidemiology (31%). Most studies focused on individuals with Down syndrome (34%) and Autism Spectrum Disorder (18%) and were published in the Journal of Periodontology (10%) and the Pediatric Dentistry Journal (7%)., Conclusion: Most of the studies included in this review were characterized as epidemiological studies. Future research should focus on behavior guidance, dental education, and access to dental services., (© 2021 Special Care Dentistry Association and Wiley Periodicals LLC.)

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that can affect up to 2.6% of the population. Most of these people will have at least one other psychiatric disorder, often diagnosed with a delay or not recognized at all. This study describes the epidemiology, diagnostic difficulties and potential treatment of patients with ASD and comorbid bipolar disorder (BD). The prevalence of bipolar disorder in ASD is estimated at 5-8%. The study with the most numerous group included 700,000 children out of which 9,062 fulfilled ASD criteria at 16 - BD was found to be 6 times more prevalent in this group compared to the control group. Many factors affect the diagnosis. Patients with ASD often have limited insight into understanding the complex emotional states and difficulty in expressing them due to their impairment. The symptoms of bipolar disorder are in their case unspecific and differ from those occurring in the general population, which makes it difficult to make proper diagnosis. Despite the lack of research on the group of patients with ASD, psychometric tools designed to evaluate the general population are used to examine patients. This work aims to show the current state of knowledge and highlight areas that require further investigation.

Abstract Autistic individuals often experience a wide range of barriers and challenges with employment across their lifetime. Despite their strengths and abilities to contribute to the workforce, many individuals experience unemployment, underemployment and malemployment. However, current supports and services are often inadequate to meet their needs. To allow autistic people to achieve vocational success, we explore four contributors to employment and expand upon the issues and potential solutions to each. These positions include the importance of family support and its consideration in the application of vocational support interventions, addressing transitional needs for autistic youth, building employer capacity, and conducting research that advises the development of meaningful programs and policies. By advocating for these positions, we aim to foster greater inclusivity and support for individuals with ASD in the workplace.

Autistic individuals often experience a wide range of barriers and challenges with employment across their lifetime. Despite their strengths and abilities to contribute to the workforce, many individuals experience unemployment, underemployment and malemployment. However, current supports and services are often inadequate to meet their needs. To allow autistic people to achieve vocational success, we explore four contributors to employment and expand upon the issues and potential solutions to each. These positions include the importance of family support and its consideration in the application of vocational support interventions, addressing transitional needs for autistic youth, building employer capacity, and conducting research that advises the development of meaningful programs and policies. By advocating for these positions, we aim to foster greater inclusivity and support for individuals with ASD in the workplace. [ABSTRACT FROM AUTHOR]

Purpose: Daily mood can be influenced by a range of experiences. Identifying everyday life experiences that make autistic adults happy and unhappy holds potential to foster positive mood and tackle mental health problems amongst this group., Methods: A total of 293 autistic adults between the ages of 18 to 35 years old (mean age of 26.51 years old (SD = 4.62); 43.3% female gender, 4.8% nonbinary) provided open-text responses regarding everyday sources of happiness and unhappiness. Using an iterative process of inductive coding, 14 happy themes and 22 unhappy themes of mood-changing life experiences were identified based on self-report qualitative data., Results: Common themes across the happy and unhappy domain involved social partners, social interactions, and engagement in recreational and employment activities, with additional distinct themes specific to happy or unhappy mood. Top themes identified in the happy domain emphasizes encouraging quality relationships and positive interactions with others and cultivating supportive work/societal environments to build a sense of achievement and value. Meanwhile, emotional tolls accompanied negative relationships and interactions, underscoring the necessity to provide autistic adults with conflict resolution and coping skills to increase feelings of happiness., Conclusion: Overall, the wide range of sources of happy and unhappy everyday experiences highlights the importance of considering personal preferences in engagement with others and activities in treatment., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Parents of Autistic children often modify their participation in leisure, social, and employment activities to meet the caregiving needs of their child. However, few studies have examined the impact this has on caregiver quality of life (QoL). The aim in the current study was to examine the role of participation in a range of activities on QoL amongst primary and secondary caregivers of school-aged Autistic children. Eighty-eight primary (93% mothers) and 63 secondary (91% fathers) caregivers of Autistic children (aged 7- to 12-years) participated in this cross-sectional study, with time pressure, participation, social support, parenting stress, and QoL measured via an online questionnaire. Compared to secondary caregivers, primary caregivers reported fewer employment hours, increased time pressure, less participation in desired activities, and higher perceived responsibility of domestic and child-rearing tasks. Similar levels of leisure frequency, parenting stress, and QoL were identified by both caregivers. Hierarchical regression revealed caregiver participation as important for QoL in both primary and secondary caregivers. However, when measures of caregiver well-being were added to the model, the unique contribution of participation to QoL was reduced, particularly for secondary caregivers. Overall, the findings demonstrate that despite differences in caregiver roles and responsibilities, participation in meaningful activities was important for QoL in all caregivers., (© 2024 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Purpose: To estimate associations between suspected or diagnosed neurodevelopmental or behavioural problems in 7-year-old children and maternal unemployment at child age 7 and 10, in a Portuguese birth cohort., Methods: We evaluated 5754 mothers and their children of the population-based birth cohort Generation XXI in Porto, Portugal. Data on suspected and diagnosed child neurodevelopmental and behavioural problems (exposures)-learning, attention and language problems, externalising behaviours, developmental delay, autism spectrum disorders, and other neurodevelopmental problems-were retrieved at 7 years of age by interviewing caregivers. Maternal employment status (outcome) was collected at the 7- and 10-year follow-up waves. Robust Poisson regression models were used to estimate associations., Results: After adjustment for maternal and household characteristics, women were more likely to be unemployed at child age 10 if the child had, up to age 7, any of the following suspected problems: an autism spectrum disorder (PR = 1.73; 95% CI 1.07, 2.79), developmental delay (PR = 1.58; 95% CI 1.20, 2.06), externalising behaviours (PR = 1.29; 95% CI 1.11, 1.50) or learning problems (PR = 1.26; 95% CI 1.07, 1.48). When the exposure was restricted to clinically diagnosed disorders, the magnitude of associations remained similar but estimates were less precise. Associations with unemployment were stronger at child age 10 (prospective analyses), than at child age 7 (cross-sectional)., Conclusion: Having a child with learning, developmental or behavioural problems, or an autism spectrum disorder up to age 7 was associated with maternal unemployment three years later, even in a less affluent European economy where the dual-earner family structure is often necessary to make ends meet., (© 2023. The Author(s).)

Autism spectrum disorder is an increasingly prevalent and debilitating neurodevelopmental condition and an electroencephalogram (EEG) diagnostic challenge. Despite large amounts of electrophysiological research over many decades, an EEG biomarker for autism spectrum disorder (ASD) has not been found. We hypothesized that reductions in complex dynamical system behaviour in the human central nervous system as part of the macroscale neuronal function during cognitive processes might be detectable in whole EEG for higher-risk ASD adults. In three studies, we compared the medians of correlation dimension, largest Lyapunov exponent, Higuchi's fractal dimension, multiscale entropy, multifractal detrended fluctuation analysis and Kolmogorov complexity during resting, cognitive and social skill tasks in 20 EEG channels of 39 adults over a range of ASD risk. We found heterogeneous complexity distribution with clusters of hierarchical sequences pointing to potential cognitive processing differences, but no clear distinction based on ASD risk. We suggest that there is indication of statistically significant differences between complexity measures of brain states and tasks. Though replication of our studies is needed with a larger sample, we believe that our electrophysiological and analytic approach has potential as a biomarker for earlier ASD diagnosis., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Few autism spectrum disorder (ASD) screening tools have been developed and validated in Africa. This study aimed to examine the psychometric properties of the Social Communication Questionnaire (SCQ) when used with Nigerian adolescents. Parents and caregivers of two hundred and five adolescents completed the SCQ Lifetime form while the adolescents were assessed for ASD using the Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2). Factor structure and convergent and discriminative validity were examined, along with the sensitivity and specificity of the SCQ in identifying participants with an autism spectrum disorder. The confirmatory factor analysis (CFA) was used to examine the factor structure, while logistic regression and Pearson's correlation coefficient were used to examine the validities. The SCQ had good internal consistency, discriminative, and convergent validity. A cut-off score of 10 revealed sensitivity = 0.81 and specificity = 0.88 for the identification of autism spectrum disorder. AUC was 0.83, p < 0.001, 95% CI [0.77, 0.90]. The results of this study provide evidence to support the retention of the original four factors of the SCQ. The SCQ has good psychometric properties when used with Nigerian adolescents., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Background: Autism spectrum disorders (ASD) are heterogeneous neurodevelopmental disorders characterized by aberrant neural networks. Cerebellum is best known for its role in controlling motor behaviors; however, recently, there have been significant reports showed that dysfunction in cerebellar-cerebral networks contributes significantly to many of the clinical features of ASD. Hereby, this is a randomized controlled trial (RCT) study examining the potential modulating effects of bilateral anodal tDCS stimulation over cerebellar hemispheres on the resting-state brain complexity in children with ASD., Methods: Thirty-six children with ASD (aged 4-14) years old were divided equally and randomly into a tDCS treatment group, which underwent 10 sessions (20-min duration, five sessions/per week) of bilateral anodal tDCS stimulation applied over left and right cerebellar hemispheres, and control group underwent the same procedures, but with sham tDCS stimulation. Resting-state brain complexity was evaluated through recording and calculating the approximate entropy (ApxEnt) values of the resting-state electroencephalograph (EEG) data obtained from a 64-channel EEG system before and after the interventions., Results: Repeated measures of ANOVA showed that tDCS had significant effects on the treatment group (Wilks' Lambda = 0.29, F (15, 16) = 2.67, p = 0.03) compared with the control group. Analyzed data showed a significant increase in the averaged ApxEnt values in the right frontal cortical region (F (1, 16) = 10.46, p = 0.005) after the bilateral cerebellar anodal tDCS stimulation. Besides, the Cohen's d effect size showed a large effect size (0.70-0.92) of bilateral cerebellar anodal tDCS on the ApxEnt values increases in the left and right frontal cortical regions, the right central cortical region, and left parietal cortical region. However, there were no any significant differences or increases in the brain complexity before and after the sham tDCS stimulation of the control group., Conclusion: Bilateral cerebellar anodal tDCS modulated and increased the brain complexity in children with ASD with no any reported adverse effect. Hereby, cerebellum and cerebellar-cerebral circuitry would serve as a promising target for non-invasive brain stimulation and neuro-modulation as a therapeutic intervention., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

BackgroundThere is a multitude of systematic reviews of interventions for children and adolescents with autism spectrum disorder (ASD). However, most reviews seem to be based on research conducted in High-Income Countries (HIC). Thus, summary findings may not directly apply to Lower Middle-Income Countries (LMIC). Therefore, we conducted a Meta-Review analyzing systematic reviews on the effectiveness of interventions for target outcomes in children and adolescents with ASD to find out whether there are differences in effectiveness between HIC and LMIC and which interventions can be considered evidence-based in LMIC.MethodsElectronic databases (PsycINFO, PubMed, Cochrane database of systematic reviews) were searched for reviews on interventions for ASD in children and adolescents from January 2011 through December 2021, which included studies not coming from HIC. Systematic reviews with qualitative and quantitative syntheses of findings were included. Two investigators independently assessed studies against predetermined inclusion/exclusion criteria and extracted relevant data including quality and evidence assessments. Evidence for different types of interventions in HIC vs. LMIC was planned to be compared, but none of the reviews assessed potential differences. Therefore, a narrative review of the studies from LMIC was conducted including an assessment of quality and evidence.ResultsThirty-five reviews fulfilled the inclusion criteria. Eleven considered findings from HIC and LMIC. Sixty-nine percent included studies with various research designs; 63% provided a qualitative synthesis of findings; 77% percent assessed the quality of studies; 43% systematically assessed the level of evidence across studies. No review compared evidence from HIC and LMIC. A review of the studies from LMIC found some promising results, but the evidence was not sufficient due to a small number of studies, sometimes poor quality, and small sample sizes.ConclusionSystematic reviews on interventions for children and adolescents with ASD did not look for potential differences in the effectiveness of interventions in HIC and LMIC. Overall, there is very little evidence from LMIC. None of the interventions can be considered evidence-based in LMIC. Hence, additional research and mutually agreed methodological standards are needed to provide a more secure basis for evidence-based treatments in LMIC trying to establish evidence-based practices.

Objectives: To assess the occurrence rate, characteristics, and impact of eating disorders (EDs) in adolescents with epilepsy., Methods: In this observational study, adolescents with epilepsy seen in a single center between 2013 and 2022 who had comorbid EDs were compared to two control groups of adolescents with only epilepsy and only EDs. Patients with intellectual disability or autism spectrum disorder were excluded. Data retrieved included demographic and anthropometric details and clinical variables relating to seizure types, EDs, and psychiatric disorders and behaviors., Results: A total of 376 subjects were included in the study: 84 adolescents with both epilepsy and eating disorders, 135 with only epilepsy, and 157 with only EDs. The rate of EDs in adolescents with epilepsy was 7.0% (95% confidence interval [CI] 5.6%-8.5%) overall, 11.3% (95% CI 8.8%-14.3%) in females, and 3.1% (95% CI 1.9%-4.8%) in males. The median (interquartile range [IQR]) time difference between the onset of epilepsy to an ED was 1.6 (.5-3.6) years. Among adolescents with epilepsy, those with an ED were more likely to be female (p = .001) and have a lower body mass index z-score (zBMI) percentile (p < .001). Epilepsy type, seizure frequency, or seizure duration were not specific for having or not having EDs. Among adolescents with EDs, those with epilepsy had a younger onset of their EDs (p < .001), included relatively more males (p = .007), and consisted of more cases of anorexia-nervosa-restrictive type (p < .001), and fewer cases of bulimia nervosa (p = .04) and binge eating disorder (p = .003). Adolescents with epilepsy and a comorbid ED were more likely to have psychiatric comorbidities such as depression, anxiety, and suicidality than adolescents with only epilepsy or EDs., Significance: EDs should be suspected and screened for in intellectually intact female and male adolescents with epilepsy, irrespective of their epilepsy type. If disturbed eating behaviors or EDs are identified, further evaluation should be directed at detecting other psychopathologies, including suicidality., (© 2023 International League Against Epilepsy.)

Background: Social skills interventions are commonly recommended to help children and young people with autism spectrum disorder develop social skills, but some struggle to engage in these interventions. LEGO ® (LEGO System A/S, Billund, Denmark) based therapy, a group social skills intervention, aims to be more interesting and engaging., Objective: To evaluate the clinical effectiveness of LEGO ® based therapy on the social and emotional skills of children and young people with autism spectrum disorder in school settings compared with usual support. Secondary objectives included evaluations of cost-effectiveness, acceptability and treatment fidelity., Design: A cluster randomised controlled trial randomly allocating participating schools to either LEGO ® based therapy and usual support or usual support only., Setting: Mainstream schools in the north of England., Participants: Children and young people (aged 7-15 years) with autism spectrum disorder, their parent/guardian, an associated teacher/teaching assistant and a facilitator teacher/teaching assistant (intervention schools only)., Intervention: Schools randomised to the intervention arm delivered 12 weekly sessions of LEGO ® based therapy, which promotes collaborative play and encourages social problem-solving in groups of three children and young people with a facilitator (trained teacher or teaching assistant). Participants received usual support from school and community services. Participants in the control arm received usual support only. Research assistants and statisticians were blind to treatment allocation., Main Outcome Measure: The social skills subscale of the Social Skills Improvement System (SSIS), completed by the children and young people's unblinded teacher pre randomisation and 20 weeks post randomisation. The SSIS social skills subscale measures social skills including social communication, co-operation, empathy, assertion, responsibility and self-control. Participants completed a number of other pre- and post-randomisation measures of emotional health, quality of life, loneliness, problem behaviours, academic competence, service resource utilisation and adverse events., Results: A total of 250 children and young people from 98 schools were randomised: 127 to the intervention arm and 123 to the control arm. Intention-to-treat analysis of the main outcome measure showed a modest positive difference of 3.74 points (95% confidence interval -0.16 to 7.63 points, standardised effect size 0.18; p  = 0.06) in favour of the intervention arm. Statistical significance increased in per-protocol analysis, with a modest positive difference (standardised effect size 0.21; p  = 0.036). Cost-effectiveness of the intervention was found in reduced service use costs and a small increase in quality-adjusted life-years. Intervention fidelity and acceptability were positive. No intervention-related adverse events or effects were reported., Conclusions: The primary and pre-planned sensitivity analysis of the primary outcome consistently showed a positive clinical difference, with modest standardised effect sizes of between 0.15 and 0.21. There were positive health economics and qualitative findings, corroborated by the difference between arms for the majority of secondary outcomes, which were not statistically significant but favoured the intervention arm. Post hoc additional analysis was exploratory and was not used in drawing this conclusion. Given the small positive change, LEGO ® based therapy for children and young people with autism spectrum disorder in schools should be considered., Limitations: The primary outcome measure was completed by an unblinded teacher (rather than by the facilitator)., Future Work: The study team recommends future research into LEGO ® based therapy, particularly in school environments., Trial Registration: This trial is registered as ISRCTN64852382., Funding: This award was funded by the National Institute for Health and Care Research (NIHR) Public Health Research programme (NIHR award ref: 15/49/32) and is published in full in Public Health Research ; Vol. 11, No. 12. See the NIHR Funding and Awards website for further award information.

Background: Mandarin-speaking children with autism spectrum disorder (ASD) have difficulties producing aspect markers. The difficulties were explained in terms of pragmatic deficits since these children demonstrated strength in the comprehension of aspect markers using the Intermodal Preferential Looking (IPL) task., Aims: To verify whether this dissociation between production and comprehension could be replicated using another technique to the IPL, and if all children with ASD show difficulties in the production of aspect markers., Methods & Procedures: A total of 34 children with ASD without cognitive delay, half with language impairment (ALI; mean age = 61.25 months old) and half with normal language (ALN, mean age = 61.52 months old), as well as 17 age-matched typically developing (TD) children (mean age = 61.38 months old) participated in a sentence-picture-matching task and a priming picture-description task to investigate their comprehension and production of Mandarin aspect markers zai-, -le and -zhe., Outcomes & Results: In the comprehension task, children in the ALN group performed similarly to their TD peers, but those in the ALI group were less accurate on zai- and -le than TD children; children in all groups received higher accuracy when zai- was combined with Activity rather than Accomplishment verbs, and those in the ALI group was also more accurate when -le occurred with Achievement verbs, in contrast to Activity verbs. In the production task, children in the ALI group produced fewer targets and more irrelevant sentences with zai- than their TD peers, and they tended to produce bare verbs for -le and -zhe than TD children; children in all groups tended to combine zai- with Activity verbs, and those in the ALN group also tended to combine -le with Achievement verbs., Conclusions & Implications: The comprehension and production of Mandarin aspect markers by children with ASD are linked to general language abilities, and interactions between lexical and grammatical aspect. Patterns of performance are similar to those of TD peers only for the subgroup with spared global language, while pragmatic deficits are pervasive throughout the spectrum. Therefore, training on formal language, with a specific emphasis on aspectual rather than pragmatic abilities, may be more effective at enhancing the production of aspect markers., What This Paper Adds: What is already known on this subject Mandarin-speaking children with ASD have difficulties producing aspect markers but demonstrate strengths in aspectual comprehension via the IPL task. Therefore, it has been proposed that their 'specific' difficulties in aspectual production should be ascribed to their pragmatic deficits. However, pragmatic deficits are highly pervasive in children with ASD while only a subgroup of children with ASD who are impaired in language development (children with ALI) show difficulties in producing tense/aspect morphology. Pursuing this reasoning, pragmatic deficits might not be the critical factor impacting the performance of children with ASD in aspectual production. What this study adds Children with ASD were divided into one group with ALI and the other with normal language (ALN). Results of a sentence-picture-matching and a priming picture-description task illustrated that both groups preserved the comprehension of Mandarin aspect markers zai-, -le and -zhe. However, children with ALI performed worse than age-matched TD children, while children with ALN demonstrated similar performance to TD children in aspectual production. These findings, coupled with the fact that pragmatic challenges affect individuals throughout the spectrum, suggest that general language abilities rather than pragmatics better explain the performance of children with ASD on aspectual production. What are the potential or actual clinical implications of this work? Since general language abilities rather than pragmatic deficits of children with ASD determine their performance on the production of aspect markers, direct training on the use of aspect markers or more global language therapy could benefit children with ASD in the production of aspect markers., (© 2023 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Socio-cognitive difficulties in individuals with autism spectrum disorder (ASD) are heterogenuous and often co-occur with irritability symptoms, such as angry/grouchy mood and temper outbursts. However, the specific relations between individual symptoms are not well-represented in conventional methods analyzing aggregated autistic symptoms and ASD diagnosis. Moreover, the cognitive-behavioral mechanisms linking ASD to irritability are largely unknown. This study investigated the dynamics between autistic (Social Responsiveness Scale) and irritability (Affective Reactivity Index) symptoms and executive functions (Cambridge Neuropsychological Test Automated Battery) in a sample of children and adolescents with ASD, their unaffected siblings, and neurotypical peers (N = 345, aged 6-18 years, 78.6% male). Three complementary networks across the entire sample were computed: (1) Gaussian graphical network estimating the conditional correlations between symptom nodes; (2) Relative importance network computing relative influence between symptoms; (3) Bayesian directed acyclic graph estimating predictive directionality between symptoms. Networks revealed numerous partial correlations within autistic (rs = .07-.56) and irritability (rs = .01-.45) symptoms and executive functions (rs = -.83 to .67) but weak connections between clusters. This segregated pattern converged in all directed and supplementary networks. Plausible predictive paths were found between social communication difficulties to autism mannerisms and between "angry frequently" to "lose temper easily." Autistic and irritability symptoms are two relatively independent families of symptoms. It is unlikely that executive dysfunctions explain elevated irritability in ASD. Findings underscore the need for researching other mood and cognitive-behavioral bridge symptoms, which may inform individualized treatments for co-occurring irritability in ASD., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Maternal folic acid intake has been associated with decreased risk for neurodevelopmental disorders including autism spectrum disorder (ASD). Genetic differences in folate metabolism could explain some inconsistencies. To our knowledge, newborn folate concentrations remain unexamined., Methods: We measured folate in archived newborn dried blood spots of children from the CHARGE (Childhood Autism Risks from Genetics and the Environment) case-control study who were clinically confirmed at 24-60 months to have ASD (n = 380), developmental delay (n = 128), or typical development (n = 247). We quantified monthly folic acid intake from maternally-reported supplements and cereals consumed during pregnancy and 3 months prior. We assessed associations of newborn folate with maternal folic acid intake and with ASD or developmental delay using regression. We stratified estimates across maternal and child MTHFR genotypes., Results: Among typically developing children, maternal folic acid intake in prepregnancy and each pregnancy month and prepregnancy prenatal vitamin intake were positively associated with newborn folate. Among children with ASD, prenatal vitamin intake in pregnancy months 2-9 was positively associated with newborn folate. Among children with developmental delay, maternal folic acid and prenatal vitamins during the first pregnancy month were positively associated with neonatal folate. Associations differed by MTHFR genotype. Overall, neonatal folate was not associated with ASD or developmental delay, though we observed associations with ASD in children with the MTHFR 677 TT genotype (odds ratio: 1.76, 95% CI = 1.19, 2.62; P for interaction = 0.08)., Conclusion: Maternal prenatal folic acid intake was associated with neonatal folate at different times across neurodevelopmental groups. Neonatal folate was not associated with reduced ASD risk. MTHFR genotypes modulated these relationships., Competing Interests: Disclosure: The authors report no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that can affect up to 2.6% of the population. Most of these people will have at least one other psychiatric disorder, often diagnosed with a delay or not recognized at all. This study describes the epidemiology, diagnostic difficulties and potential treatment of patients with ASD and comorbid bipolar disorder (BD). The prevalence of bipolar disorder in ASD is estimated at 5-8%. The study with the most numerous group included 700,000 children out of which 9,062 fulfilled ASD criteria at 16 - BD was found to be 6 times more prevalent in this group compared to the control group. Many factors affect the diagnosis. Patients with ASD often have limited insight into understanding the complex emotional states and difficulty in expressing them due to their impairment. The symptoms of bipolar disorder are in their case unspecific and differ from those occurring in the general population, which makes it difficult to make proper diagnosis. Despite the lack of research on the group of patients with ASD, psychometric tools designed to evaluate the general population are used to examine patients. This work aims to show the current state of knowledge and highlight areas that require further investigation. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder with severe cognitive impairment. Several studies have reported that brain functional network connectivity (FNC) has great potential for identifying ASD from healthy control (HC) and revealing the relationships between the brain and behaviors of ASD. However, few studies have explored dynamic large-scale FNC as a feature to identify individuals with ASD. This study used a time-sliding window method to study the dynamic FNC (dFNC) on the resting-state fMRI. To avoid arbitrarily determining the window length, we set a window length range of 10-75 TRs (TR = 2 s). We constructed linear support vector machine classifiers for all window length conditions. Using a nested 10-fold cross-validation framework, we obtained a grand average accuracy of 94.88% across window length conditions, which is higher than those reported in previous studies. In addition, we determined the optimal window length using the highest classification accuracy of 97.77%. Based on the optimal window length, we found that the dFNCs were located mainly in dorsal and ventral attention networks (DAN and VAN) and exhibited the highest weight in classification. Specifically, we found that the dFNC between DAN and temporal orbitofrontal network (TOFN) was significantly negatively correlated with social scores of ASD. Finally, using the dFNCs with high classification weights as features, we construct a model to predict the clinical score of ASD. Overall, our findings demonstrated that the dFNC could be a potential biomarker to identify ASD and provide new perspectives to detect cognitive changes in ASD., (© 2023 International Society for Autism Research and Wiley Periodicals LLC.)

During social encounters, people tend to reproduce the facial expressions of others, termed "facial mimicry," which is believed to underlie many important social cognitive functions. Clinically, atypical mimicry is closely associated with serious social dysfunction. However, findings regarding the facial mimicry ability of children with autism spectrum disorder (ASD) are inconsistent; it is necessary to test whether deficits in facial mimicry are core defects of autism and explore the potential mechanism underlying this process. Using quantitative analysis, this study investigated voluntary and automatic facial mimicry performance of six basic expressions in children with and without ASD. There was no significant group difference in mimicry accuracy, but children with ASD showed less intensity in voluntary and automatic mimicry than typically developing children; they also presented less voluntary mimicry intensity for happy, sad, and fearful expressions. Performance on voluntary and automatic mimicry was significantly correlated with the level of autistic symptoms (r >-.43) and theory of mind (r >.34). Furthermore, theory of mind mediated the relationship between autistic symptoms and the intensity of facial mimicry. These results suggest that individuals with ASD show atypical facial mimicry (i.e., less intensity for both voluntary and automatic mimicry, mainly for voluntary mimicry of happiness, sadness, and fear), which might offer a potential cognitive marker for quantifying syndrome manifestations in children with ASD. These findings suggest that theory of mind plays a mediating role in facial mimicry, which may provide insight into the theoretical mechanism of social dysfunction in children with autism., (© 2023 International Society for Autism Research and Wiley Periodicals LLC.)

The current study examined factorial invariance of the Center for Epidemiologic Studies Depression Scale-Revised (CESD-R) and the Depression Anxiety Stress Scales-21 (DASS-21) using a convenience sample of 434 adults surveyed though Amazon Mechanical Turk. Participants were sorted into two groups based on their score on the Autism-Spectrum Quotient. Results indicated that the CESD-R did not demonstrate configural invariance. The DASS-21 demonstrated evidence of scalar invariance, indicating cross-group equality in factor loadings and factor intercepts. Findings suggest that the DASS-21 measures symptoms of depression, anxiety, and stress consistently across individuals with high and low levels of ASD-related traits, whereas the CESD-R may not be valid when assessing symptoms of depression in those with a high level of ASD-related traits., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

An early detection of Neurodevelopmental Disorders (NDDs) is crucial for their prognosis; however, the clinical heterogeneity of some disorders, such as autism spectrum disorder (ASD) or attention-deficit hyperactivity disorder (ADHD) is an obstacle to accurate diagnoses in children. In order to facilitate the screening process, the current study aimed to identify symptom-based clusters among a community-based sample of preschool and school-aged children, using behavioral characteristics reported by teachers. A total of 6894 children were assessed on four key variables: social communication differences, restricted behavior patterns, restless-impulsiveness, and emotional lability (pre-schoolers) or inattention and hyperactivity-impulsivity (school-aged). From these behavioral profiles, four clusters were identified for each age group. A cluster of ASD + ADHD and others including children with no pathology was clearly identified, whereas two other clusters were characterized by subthreshold ASD and/or ADHD symptoms. In the school-age children, the presence of ADHD was consistently observed with ASD patterns. In pre-schoolers, teachers were more proficient at identifying children who received a diagnosis for either ASD and/or ADHD from an early stage. Considering the significance of early detection and intervention of NDDs, teachers' insights are important. Therefore, promptly identifying subthreshold symptoms in children can help to minimize consequences in social and academic functioning., (© 2024 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Objective: To delineate the comprehensive phenotypic spectrum of SYNGAP1-related disorder in a large patient cohort aggregated through a digital registry., Methods: We obtained de-identified patient data from an online registry. Data were extracted from uploaded medical records. We reclassified all SYNGAP1 variants using American College of Medical Genetics criteria and included patients with pathogenic/likely pathogenic (P/LP) single nucleotide variants or microdeletions incorporating SYNGAP1. We analyzed neurodevelopmental phenotypes, including epilepsy, intellectual disability (ID), autism spectrum disorder (ASD), behavioral disorders, and gait dysfunction for all patients with respect to variant type and location within the SynGAP1 protein., Results: We identified 147 patients (50% male, median age 8 years) with P/LP SYNGAP1 variants from 151 individuals with data available through the database. One hundred nine were truncating variants and 22 were missense. All patients were diagnosed with global developmental delay (GDD) and/or ID, and 123 patients (84%) were diagnosed with epilepsy. Of those with epilepsy, 73% of patients had GDD diagnosed before epilepsy was diagnosed. Other prominent features included autistic traits (n = 100, 68%), behavioral problems (n = 100, 68%), sleep problems (n = 90, 61%), anxiety (n = 35, 24%), ataxia or abnormal gait (n = 69, 47%), sensory problems (n = 32, 22%), and feeding difficulties (n = 69, 47%). Behavioral problems were more likely in those patients diagnosed with anxiety (odds ratio [OR] 3.6, p = .014) and sleep problems (OR 2.41, p = .015) but not necessarily those with autistic traits. Patients with variants in exons 1-4 were more likely to have the ability to speak in phrases vs those with variants in exons 5-19, and epilepsy occurred less frequently in patients with variants in the SH3 binding motif., Significance: We demonstrate that the data obtained from a digital registry recapitulate earlier but smaller studies of SYNGAP1-related disorder and add additional genotype-phenotype relationships, validating the use of the digital registry. Access to data through digital registries broadens the possibilities for efficient data collection in rare diseases., (© 2024 International League Against Epilepsy.)

Introduction: The purpose of this pilot study was to compare video modeling (VM) to a toothbrushing social story (TSS) for improving oral hygiene in children with autism spectrum disorder (ASD)., Methods: Four to 17-year-old children and adolescents with ASD were evaluated at a pre-intervention visit for quality of oral hygiene using plaque and gingival indices. A pre-intervention survey assessed caregivers' perceptions of their children's daily oral hygiene practices. Participants were randomized into VM or TSS groups and caregivers received daily emails to access a VM or TSS presentation when completing toothbrushing for their child for 30 days. At the one-month visit, oral hygiene was re-evaluated, and post-intervention surveys were completed., Results: There were significant improvements in plaque and gingival scores for VM (0.68 ± 0.20; 0.59 ± 0.15) and TSS (0.50 ± 0.11; 0.40 ± 0.10) groups at post-intervention compared to pre-intervention visits. No significant improvements in plaque or gingival scores were noted between the VM and TSS groups. Caregivers' perceptions regarding oral hygiene acceptance by their children was promising for the VM group., Conclusions: VM and TSS interventions improved oral hygiene in subjects with ASD. There was greater acceptance of daily oral hygiene in the VM compared to the TSS group., (© 2023 Special Care Dentistry Association and Wiley Periodicals LLC.)

Camouflaging (using (un)conscious strategies to appear as non-autistic) is thought to be an important reason for late autism diagnoses and mental health difficulties. However, it is unclear whether only autistic people camouflage or whether people with other neurodevelopmental or mental health conditions also use similar camouflaging strategies. Therefore, in this preregistered study (AsPredicted: #41811) study, we investigated if adults with attention-deficit/hyperactivity-disorder (ADHD) also camouflage. Adults aged 30-90 years filled in the Dutch Camouflaging Autistic Traits Questionnaire (CAT-Q-NL), the ADHD Self-Report (ADHD-SR) and the Autism Spectrum Quotient (AQ). We investigated differences in camouflaging between adults with ADHD, autism, and a comparison group in an age and sex-matched subsample (N = 105 per group). We explored if autism and ADHD traits explained camouflaging levels in adults with an autism and/or ADHD diagnosis (N = 477). Adults with ADHD scored higher on total camouflaging and assimilation subscale compared to the comparison group. However, adults with ADHD scored lower on total camouflaging, and subscales compensation and assimilation than autistic adults. Autism traits, but not ADHD traits, were a significant predictor of camouflaging, independent of diagnosis. Thus, camouflaging does not seem to be unique to autistic adults, since adults with ADHD also show camouflaging behavior, even though not as much as autistic adults. However, as the CAT-Q-NL specifically measures camouflaging of autistic traits it is important to develop more general measures of camouflaging, to compare camouflaging more reliably in people with different mental health conditions. Furthermore, focusing on camouflaging in adults with ADHD, including potential consequences for late diagnoses and mental health seems a promising future research avenue., (© 2024 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Autism in adulthood is characterized by heterogeneity, complicating the provision of tailored support. In previous work, we aimed to capture this heterogeneity by determining subgroups of autistic adults that differed in clinical outcomes: cognitive failures, psychological difficulties, and quality of life (QoL). Two subgroups were identified: a "Feelings of Low Grip" subgroup characterized by experiencing a lower sense of mastery and a higher susceptibility to difficulties in daily life, and a "Feelings of High Grip" subgroup characterized by a higher sense of mastery and lower susceptibility to difficulties in daily life. The current pre-registered study involves a longitudinal extension to determine (a) stability and (b) predictive value of the previously identified two subgroups. Subgroups were identified using community detection based on 14 self-report measures related to demographic, psychological, and lifestyle characteristics in two samples (aged 31-86 years) that were analyzed separately: Sample 1 (N Autism  = 80) measured 5 years after baseline and Sample 2 (N Autism  = 241, N Comparison  = 211) measured 2 years after baseline. The stability over time was assessed based on (a) the number of subgroups, (b) subgroup profiles, and (c) subgroup membership. Predictive validity was assessed for cognitive failures, psychological difficulties, and QoL. Results indicated that autistic and non-autistic adults formed distinct subgroups. Within both autism samples, the two previously identified autism subgroups were replicated at follow-up. Subgroup profiles were similar for >50% of the variables at two-year follow-up, and 21% at five-year follow-up. Moreover, ≥76% remained in the same subgroup at two-year follow-up, and ≥ 57% after 5 years. Subgroup membership was predictive of external clinical outcomes up to 5 years. Thus, this study demonstrated the stability and predictive value of the autism subgroups, especially for the two-year follow-up. A further focus on their clinical utility might increase the aptness of support, and may provide more insight into the aging process when being autistic., (© 2024 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Autism spectrum disorder (ASD) is a highly variable neurodevelopmental disorder that typically manifests childhood, characterized by a triad of symptoms: impaired social interaction, communication difficulties, and restricted interests with repetitive behaviors. De novo variants in related genes can cause ASD. We present the case of a 6-year-old Chinese boy with autistic behavior, including language communication impairments, intellectual disabilities, stunted development, and irritability in social interactions. Using Sanger sequencing, we confirmed a pathogenic in the RERE gene (NM&#95;012102.4) (c.3732delC, p.Tyr1245Thrfs*12; EX21; Het). Subsequently, we generated an RERE point mutation cell line (ReMut) using CRISPR/Cas9 Targeted Genome Editing. Immunofluorescence was conducted to determine the location of the mutant RERE. RNA-sequencing and mass spectrometry analyses were performed to elucidate the ASD-related genes and signaling pathways disrupted by this variant in RERE. We identified 3790 differentially expressed genes and 684 differentially expressed proteins. The SHH signaling pathway was found to be downregulated, and the Hippo pathway was upregulated in ReMut. Genes implicated in autism, such as CNTNAP2, STX1A, FARP2, and GPC1, were significantly downregulated. Simultaneously, we noted alterations in HDAC1 and HDAC2, which are members of the WHHERE complex, suggesting their role in the pathogenesis of this patient. In conclusion, we report a de novo variant in RERE associated with autistic behavior. The finding that ASD is associated with RERE variants underscore the role of genetic factors in ASD and provides insights regarding the mechanisms underlying RERE variants in disease onset., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

This study segmented the time series of gaze behavior from nineteen children with autism spectrum disorder (ASD) and 20 children with typical development in a face-to-face conversation. A machine learning approach showed that behavior segments produced by these two groups of participants could be classified with the highest accuracy of 74.15%. These results were further used to classify children using a threshold classifier. A maximum classification accuracy of 87.18% was achieved, under the condition that a participant was considered as 'ASD' if over 46% of the child's 7-s behavior segments were classified as ASD-like behaviors. The idea of combining the behavior segmentation technique and the threshold classifier could maximally preserve participants' data, and promote the automatic screening of ASD., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

BCL11A is implicated in BCL11A-Related Intellectual Development Disorder (BCL11A-IDD). Previously reported cases had various types of BCL11A variants (copy-number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS). Here, we present three additional children with CAS and de novo BCL11A variants, a p.Ala182Thr nonconservative missense and a p.GLu611.Ter nonsense variant, both in exon 4, and a 106 kb deletion harboring exons 1 and 2. All three children have fine and gross motor discoordination, feeding difficulties, and visual motor disorders. Intellectual and learning disabilities and disordered language skills were seen only in the child with the missense variant and the child with the deletion. These findings align with, and expand, previous findings in that BCL11A variants have significant and highly penetrant apraxic effects across motor systems, consistent with cerebellar involvement. The deletion of exons 1 and 2 is the smallest BCL11A CNV with the full phenotypic expression reported to date. The present results support previous findings in that BCL11A-IDD can result from BCL11A variants regardless of type (deletion, SNVs). A gene expression study shows that BCL11 is expressed highly in the early developing cerebellum and primary motor and auditory cortices. Significant co-expression rates in these regions with genes previously implicated in disorders of spoken language and in ASD support the phenotypic overlaps in children with BCL11A-IDD, CAS, and ASD., (© 2022 Wiley Periodicals LLC.)

Autism spectrum disorder is characterized by impaired social communication and interaction. As a neurodevelopmental disorder typically diagnosed during childhood, diagnosis in adulthood is preceded by a resource-heavy clinical assessment period. The ongoing developments in digital phenotyping give rise to novel opportunities within the screening and diagnostic process. Our aim was to quantify multiple non-verbal social interaction characteristics in autism and build diagnostic classification models independent of clinical ratings. We analyzed videos of naturalistic social interactions in a sample including 28 autistic and 60 non-autistic adults paired in dyads and engaging in two conversational tasks. We used existing open-source computer vision algorithms for objective annotation to extract information based on the synchrony of movement and facial expression. These were subsequently used as features in a support vector machine learning model to predict whether an individual was part of an autistic or non-autistic interaction dyad. The two prediction models based on reciprocal adaptation in facial movements, as well as individual amounts of head and body motion and facial expressiveness showed the highest precision (balanced accuracies: 79.5% and 68.8%, respectively), followed by models based on reciprocal coordination of head (balanced accuracy: 62.1%) and body (balanced accuracy: 56.7%) motion, as well as intrapersonal coordination processes (balanced accuracy: 44.2%). Combinations of these models did not increase overall predictive performance. Our work highlights the distinctive nature of non-verbal behavior in autism and its utility for digital phenotyping-based classification. Future research needs to both explore the performance of different prediction algorithms to reveal underlying mechanisms and interactions, as well as investigate the prospective generalizability and robustness of these algorithms in routine clinical care., (© 2024. The Author(s).)

Emotion dysregulation is one of the challenges that children with autism spectrum disorder (ASD) and their families face. It is unclear whether emotion dysregulation plays a mediating role in the relationship between sensory processing patterns and problem behaviors among these children. This study examined the relations between emotion dysregulation, behavioral problems, and sensory processing patterns among fifty-seven young children with ASD. Behavioral problems and sensory processing patterns were moderately to strongly correlated with emotion dysregulation. The relationship between sensory processing patterns and behavioral problems was significant with emotion dysregulation as a mediator. These findings help identify the relationship between emotion dysregulation, sensory processing patterns, and behavioral problems to facilitate the planning of intervention strategies for young children with ASD., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Speech ability may limit spoken language development in some minimally verbal autistic children. In this study, we aimed to determine whether an acoustic measure of speech production, vowel distinctiveness, is concurrently related to expressive language (EL) for autistic children. Syllables containing the vowels [i] and [a] were recorded remotely from 27 autistic children (4;1-7;11) with a range of spoken language abilities. Vowel distinctiveness was calculated using automatic formant tracking software. Robust hierarchical regressions were conducted with receptive language (RL) and vowel distinctiveness as predictors of EL. Hierarchical regressions were also conducted within a High EL and a Low EL subgroup. Vowel distinctiveness accounted for 29% of the variance in EL for the entire group, RL for 38%. For the Low EL group, only vowel distinctiveness was significant, accounting for 38% of variance in EL. Conversely, in the High EL group, only RL was significant and accounted for 26% of variance in EL. Replicating previous results, speech production and RL significantly predicted concurrent EL in autistic children, with speech production being the sole significant predictor for the Low EL group and RL the sole significant predictor for the High EL group. Further work is needed to determine whether vowel distinctiveness longitudinally, as well as concurrently, predicts EL. Findings have important implications for the early identification of language impairment and in developing language interventions for autistic children., (© 2024 International Society for Autism Research and Wiley Periodicals LLC.)

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder with a broad spectrum of symptoms and prognoses. Effective therapy requires understanding this variability. ASD children's cognitive and immunological development may depend on iron homoeostasis. This study employs a machine learning model that focuses on iron metabolism hub genes to identify ASD subgroups and describe immune infiltration patterns. A total of 97 control and 148 ASD samples were obtained from the GEO database. Differentially expressed genes (DEGs) and an iron metabolism gene collection achieved the intersection of 25 genes. Unsupervised cluster analysis determined molecular subgroups in individuals with ASD based on 25 genes related to iron metabolism. We assessed gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, gene set variation analysis (GSVA), and immune infiltration analysis to compare iron metabolism subtype effects. We employed machine learning to identify subtype-predicting hub genes and utilized both training and validation sets to assess gene subtype prediction accuracy. ASD can be classified into two iron-metabolizing molecular clusters. Metabolic enrichment pathways differed between clusters. Immune infiltration showed that clusters differed immunologically. Cluster 2 had better immunological scores and more immune cells, indicating a stronger immune response. Machine learning screening identified SELENBP1 and CAND1 as important genes in ASD's iron metabolism signaling pathway. These genes express in the brain and have AUC values over 0.8, implying significant predictive power. The present study introduces iron metabolism signaling pathway indicators to predict ASD subtypes. ASD is linked to immune cell infiltration and iron metabolism disorders., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating mutations in the TSC1 and TSC2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mTOR) signaling pathway in fetal life. The mTOR pathway plays a crucial role in several brain processes leading to TSC-related epilepsy, intellectual disability, and autism spectrum disorder (ASD). Pre-natal or early post-natal diagnosis of TSC is now possible in a growing number of pre-symptomatic infants., Data Sources: We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms "tuberous sclerosis", "autism", or "autism spectrum disorder"," animal models", "preclinical studies", "neurobiology", and "treatment"., Results: Prospective studies have highlighted that developmental trajectories in TSC infants who were later diagnosed with ASD already show motor, visual and social communication skills in the first year of life delays. Reliable genetic, cellular, electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and epilepsy., Conclusions: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC., (© 2023. Children's Hospital, Zhejiang University School of Medicine.)

We investigated parent reports of use of special education and support services, use of evidence-based practices (EBPs), use of past and current complementary and alternative medicine (CAM) treatments, non-use of CAM treatments, willingness, and unwillingness to use CAM treatments, reasons for use and non-use of CAM treatments, and perceptions of EBPs and CAM treatments in their children's functioning. We collected data from a total of 166 parents of children with autism spectrum disorder (ASD) through a web-based survey. 94% of the parents reported lifetime use of at least one CAM treatment. Parents weighed on a wide variety of factors in decision-making. CAM treatments use was positively associated with parental educational level, length of time since ASD diagnosis, and child's ASD severity., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Effective parent-teacher partnerships improve outcomes for autistic students. Yet, we know little about what effective partnerships look like for parents of autistic children from different backgrounds. We conducted interviews with 17 Chinese parents of autistic children attending Australian kindergartens/schools to understand their experiences. Parents appreciated the acceptance, opportunities and supports they received in Australia. They had high expectations of children; expectations not often shared by educators. Parents were respectful of teachers' expertise and polite and undemanding in interactions. Nevertheless, parents were frustrated by inconsistent teaching quality and inadequate communication. Navigating systems was also challenging and parents faced discrimination from teachers and their community. Recommendations include fostering open home-school communication, proactively seeking parents' expertise about children and explicitly scaffolding parents' self-advocacy., (© 2022. The Author(s).)

The MYT1L gene plays a critical role in brain development, promoting the differentiation and proliferation of cells, important for the formation of brain connections. MYT1L is also involved in regulating the development of the hypothalamus, which is a crucial actor in weight regulation. Genetic variants in the MYT1L are associated with a range of developmental disorders, including intellectual disability, autism spectrum disorder, facial dysmorphisms, and epilepsy. The specific role of MYT1L in epilepsy remains elusive and no patients with developmental and epileptic encephalopathy (DEE) have been described so far. In this study, we report a patient with DEE presenting with severe refractory epilepsy, obesity, and behavioral abnormalities. Exome sequencing led to the identification of the heterozygous variant NM&#95;001303052.2: c.1717G>A, p.(Gly573Arg) (chr2-1910340-C-T; GRCh38.p14) in the MYT1L gene. This variant was found to be inherited by the father, who was a mosaic and did not suffer from any neuropsychiatric disorders. Our observations expand the molecular and phenotype spectrum of MYT1L-related disorders, suggesting that affected individuals may present with severe epileptic phenotype leading to neurocognitive deterioration. Furthermore, we show that mosaic parents may not display the disease phenotype, with relevant implications for genetic counseling., (© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Fragile X syndrome (FXS) is a leading form of inherited intellectual disability and single-gene cause of autism spectrum disorder (ASD) and is characterized by core deficits in cognitive flexibility, sensory sensitivity, emotion, and social interactions. Motor deficits are a shared feature of FXS and autism. The cerebellum has emerged as one of the target brain areas affected by neurodevelopmental diseases. Alterations in the cerebellar structure, circuits, and function may be the key drivers of impaired fine and gross motor skills in FXS and fragile X-associated tremor/ataxia syndrome (FXTAS). In this review, we briefly examined recent findings in FXS and present a discussion on the literature supporting motor skill deficits in FXS. Subsequently, we focused on neuropathological alterations in the cerebellum in FXS and FXTAS. We highlight studies that have directly examined the function of fragile X mental retardation protein and related epigenetic variations in the cerebellum. Overall, we obtained considerable supporting evidence for the hypothesis that cerebellar dysfunction is evident in FXS and FXTAS; however, compared with studies on other ASD models, studies on motor skills related to fragile X disorders are particularly rare and inconclusive. Hence, future research should address FXS-related motor and behavioral trajectories and examine the underlying mechanisms at both the cell and circuit levels., (© 2022 International Society for Developmental Neuroscience.)

This paper used Social Security Administration program data from 2005 to 2019 to examine national- and state-level changes in the number of new adult supplemental security income (SSI) awardees on the autism spectrum relative to awardees with intellectual disability and other mental health disorders. We identified three main findings: the number of autistic awards increased between 2005 and 2019 when awards for all other mental health disorders declined; roughly nine out of every 10 autistic adult awardees were between ages 18-25 years; there was variation in the growth of autistic awards across states. These findings support the need to consider geographic and age differences in SSI program participation among autistic adults and determine the underlying causes., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known about its aetiology, risk factors, and disease progression. There are currently neither validated biomarkers for diagnostic screening nor specific medication for autism. Over the last two decades, there have been remarkable advances in genetics, with hundreds of genes identified and validated as being associated with a high risk for autism. The convergence of neuroscience methods is becoming more widely recognized for its significance in elucidating the pathological mechanisms of autism. Efforts have been devoted to exploring the behavioural functions, key pathological mechanisms and potential treatments of autism. Here, as we highlight in this review, emerging evidence shows that signal transduction molecular events are involved in pathological processes such as transcription, translation, synaptic transmission, epigenetics and immunoinflammatory responses. This involvement has important implications for the discovery of precise molecular targets for autism. Moreover, we review recent insights into the mechanisms and clinical implications of signal transduction in autism from molecular, cellular, neural circuit, and neurobehavioural aspects. Finally, the challenges and future perspectives are discussed with regard to novel strategies predicated on the biological features of autism., (© 2022. The Author(s).)

Recently it has been proposed that impairments related to autism spectrum disorder (ASD) may reflect a more fundamental disruption in time perception. Here, we examined whether in utero exposure to valproic acid (VPA) can generate specific behavioral deficits related to ASD and time perception. Pups from control and VPA groups were tested using fixed-interval (FI) temporal bisection, peak interval, and intertemporal choice tasks. In addition, the rats were assessed on motor function, perseverative and exploratory behavior, anxiety, and memory. The VPA group displayed a leftward shift in timing functions. VPA rats displayed no deficits on the motor and memory tasks, but were significantly different from controls on measures of perseveration and anxiety., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. The associations between the cerebellum and clinical traits remain unclear. We performed amplitude of low-frequency fluctuation (ALFF) analysis to explore the associations between spontaneous brain activity and clinical traits. 361 juvenile ASD patients were included from the ABIDEII database. In the ASD group, the mean ALFF values of cerebellum 4 5 were correlated with SRS awareness and communication. The mean ALFF values of cerebellum 6 and vermis 4 5 were both positively correlated with SRS total, awareness, communication, and motivation. In contrast, the mean ALFF values of vermis 1 2 were negatively correlated with SRS total, awareness, and mannerisms. Our study suggests a role of the cerebellum in functional impairments in ASD., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)