Autism Spectrum Disorder Research Articles

La melatonina nei disturbi del sonno in bambini e adolescenti con problemi neurocomportamentali

Melatonin, a neurohormone produced by the pineal gland, regulates the sleep-wake circadian rhythm. Sleep disorders are prevalent in children, especially those with neurodevelopmental disorders like autism and other neurodisabilities and affect about 50-75% of this population. The use of melatonin to improve sleep in this population has been debated for over 20 years, with recent reviews addressing its efficacy and safety. Melatonin significantly improves sleep latency and total sleep time in children with autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and other neurodevelopmental disorders. However, its effectiveness in reducing night awakenings is limited. Short-term use shows no significant association with serious adverse effects, though mild side effects like headache, nausea, drowsiness, and mood changes are common. Long-term safety data are limited but suggest no significant impact on puberty onset or bone health. Dosing and timing of melatonin administration vary widely, and individualized treatment plans are recommended. The use of melatonin should be accompanied by behavioural interventions, and potential side effects should be monitored closely.

Towards more accessible digital urban public transport for people with autism spectrum disorder (ASD): a critical incident analysis (CIT)

PurposeThis study empirically and comparatively examines two digital technologies that have been implemented as part of the experience of urban public transport during the COVID-19 pandemic in the city of Barcelona, the digitization of tickets and self-service technology in kiosks in the different operators of the metropolitan transport authority (ATM) environment. The study gives a voice to people with ASD and makes a theoretical and practical contribution to making urban transport increasingly digitized after the COVID-19 pandemic, more accessible and inclusive for the group, little observed so far.Design/methodology/approachThe data collection consisted of a discussion group, ethnographic techniques and a visit to the Barcelona Metro (2022), and interviews after the visit through a semi-structured questionnaire with 12 participants with ASD. This study uses the critical incident analysis (CIT).FindingsResults provide an extension of the attribute-based Dabholkar model (1996) that applies to the perception of the use of self-service technology, when using digital technologies in urban transport.Originality/valueThis redefinition of the current model of the perception of the use of technology, taking into account the needs of people with ASD, will enable better decision making by transport operators for previously neglected groups.

Clinical and genetic analysis of a Chinese pedigree affected with Familial focal epilepsy with variable foci due to variant of NPRL3 gene

To explore the clinical manifestations and genetic etiology of a Chinese pedigree affected with Familial focal epilepsy with variable foci (FFEVF). A FFEVF pedigree presented at the Department of Medical Genetics of Linyi Maternal and Child Health Care Hospital on March 14, 2023 was selected as the study subject. The proband was subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing of the proband and other affected members and bioinformatic analysis. This study was approved by the Linyi Maternal and Child Health Care Hospital (Ethics No. QTL-YXLL-2023048). WES revealed that the proband has harbored a heterozygous c.1642C>T (p.Arg548Cys) missense variant in exon 15 of the NPRL3 gene. Sanger sequencing confirmed that the variant was inherited from the proband's father, and multiple members of the pedigree had also harbored the same variant. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of unknown significance (PM2_supporting + PP3). The clinical phenotype of FFEVF patients caused by variants of NPRL3 gene is extensive, and the patients may present with neurological abnormality of autism spectrum disorder in addition to seizures.

Autism diagnostic aid (ADA) tool for use in adults with intellectual disability: development, face and content validation

Purpose Individuals with intellectual disability have an increased predisposition to other co-morbid physical health conditions, mental illness and neurodevelopmental conditions including autism spectrum condition. There are challenges in diagnosing autism in adults with intellectual disability, and these are often attributes to the complexities in symptoms. The purpose of this paper is to describe the development of the autism diagnostic aid (ADA) tool and face and content validation of its properties. Design/methodology/approach The ADA tool was developed following a detailed scoping exercise which included literature reviews, observations and discussion with wider multi-disciplinary team members. A face and content validation after consultation with eight experts who are trained and routinely perform assessments for autism spectrum disorders. The experts also have expertise in working with individuals with intellectual disability. Findings The experts agreed that the ADA tool is appropriate to the targeted construct and assessment objectives as a diagnostic aid in the assessment of autism in adults with intellectual disability. They also determined that the content of ADA tool was valid for its use as a diagnostic aid in the diagnosis of adults with intellectual disability. Research limitations/implications The ADA tool was considered a valid tool from the expert’s perspective. It was identified to have a good face and content validity. To the best of the authors’ knowledge, the ADA is first of its kind tool, developed specifically to aid clinicians with autism assessments in adults with intellectual disability. Practical implications This tool could potentially help with timely assessment and help with providing appropriate intervention but would require further exploration. Originality/value To the best of the authors’ knowledge, this is the first of its kind tool for the assessment of autism in adults with intellectual disability.

Inefficient and unique processing of social–emotional interference in school-aged children with high-functioning autism spectrum disorder

IntroductionInterest is growing in investigating the ability of children with autism spectrum disorder (ASD) to process social information under conflicting and complex environments. However, few studies have employed objective behavioral measures to directly explore the underlying profile of social–emotional interference control.MethodsIn the current study, 53 children with ASD and 53 typically developing (TD) control, aged 6–12 years, completed a set of modified flanker tasks involving arrows, schematic faces, same real faces (with facial interference by the same person), and different real faces (with facial interference by different people), respectively. Response time in incongruent (RTInc) and congruent conditions (RTCon), percentage of errors in incongruent (%ErrorInc) and congruent conditions (%ErrorCon), and flanker effect calculated by ΔRT = (RTInc − RTCon)/RTCon and Δ%Error = %ErrorInc − %ErrorCon were used as outcome metrics.ResultsWe obtained three major results: (1) the ASD group had longer RTInc and RTCon compared to the TD group in the arrow, schematic face, and same real-face tasks; (2) compared with the performance in the arrow flanker task, both groups exhibited longer RTs and reduced ΔRTs in the same real-face task; however, in the schematic-face task, longer RT and reduced ΔRT were exhibited in the TD group, but not in the ASD group; and (3) in the different real-face task, ASD group had higher %Error than the TD group, and %Error was negatively correlated with RT only in the ASD group.ConclusionThe current study delineates the inefficient processing of social–emotional interference in school-aged children with ASD and further suggests that these children might adopt a relatively optimized strategy like symbolization when dealing with emotional conflict. However, such compensatory cognitive strategies may be exhausted along with the increase in information load. These findings provide new perspectives of considering the difference more than difficulty in the cognitive profile of ASD, which will benefit the development of targeted behavioral interventions.

Understanding sex/gender differences in intelligence profiles of children with Autism: A comprehensive WISC meta-analysis

BackgroundIntelligence assessment in children with autism spectrum disorders (ASD) often sparks debates about sex/gender differences. Specifically, the question arises whether girls exhibit lower performance on intelligence scales compared to boys. This meta-analysis examines nine studies (N=1105; 809 boys and 296 girls) to quantify sex/gender differences on the Wechsler Intelligence Scale for Children (WISC) in children with ASD, comparing their results to typically developing children. Method and proceduresRandom-effects meta-analyses on WISC indices and subtests were conducted to address the heterogeneity across effect sizes. Results for children with ASD were compared to those of typically developing children. Outcomes and resultsFindings revealed no significant differences in general intellectual functioning (full-scale IQ), verbal comprehension, working memory, or processing speed between boys and girls in children with ASD. Boys showed an advantage only in the perceptual reasoning index. At the subtest level, boys outperformed on certain tasks, while girls excelled in others. Conclusions and implicationsThe observed pattern of differences in the ASD population aligns quantitatively with those in typically developing populations. Differences, if present, are specific to certain indices rather than general intelligence. These insights contribute to a nuanced understanding of gender-related cognitive variations in the context of ASD.

A Systematic Review of Treatment for Children with Autism Spectrum Disorder: The Sensory Processing and Sensory Integration Approach

Background/Objectives: The prevalence of the diagnosis of autism spectrum disorder (ASD) has been increasing globally, necessitating updates to the Diagnostic and Statistical Manual of Mental Disorders with respect to ASD diagnosis. It is now recognised that ASD is related to sensory processing disorder, and sensory integration is considered a suitable intervention for treating children diagnosed with ASD. Methods: This paper provides a systematic review on a timeline from 2013 to 2023, based on the PRISMA model. Evidence was sought in the academic search engines Pubmed, Scielo, Eric, Dialnet, Springer, Base Search and Google Scholar, which produced 16 articles according to the inclusion criteria. Results: According to the results of this review, intervention with sensory integration in infants with ASD meets the criteria to be considered an evidence-based practice. The studies reviewed focused mainly on clinical settings and, therefore, we highlight the urgent need for further research to evaluate the effectiveness of sensory integration interventions in naturalistic settings such as homes and schools. Conclusions: This will help to obtain more representative data on how these interventions affect the daily lives of children with ASD.

Stratification of Gut Microbiota Profiling Based on Autism Neuropsychological Assessments

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Investigations of gut microbiota (GM) play an important role in deciphering disease severity and symptoms. Overall, we stratified 70 ASD patients by neuropsychological assessment, based on Calibrated Severity Scores (CSSs) of the Autism Diagnostic Observation Schedule-Second edition (ADOS-2), Child Behavior Checklist (CBCL) and intelligent quotient/developmental quotient (IQ/DQ) parameters. Hence, metataxonomy and PICRUSt-based KEGG predictions of fecal GM were assessed for each clinical subset. Here, 60% of ASD patients showed mild to moderate autism, while the remaining 40% showed severe symptoms; 23% showed no clinical symptoms, 21% had a risk of behavior problems and 56% had clinical symptoms based on the CBCL, which assesses internalizing problems; further, 52% had no clinical symptoms, 21% showed risk, and 26% had clinical symptoms classified by CBCL externalizing problems. Considering the total CBCL index, 34% showed no clinical symptoms, 13% showed risk, and 52% had clinical symptoms. Here, 70% of ASD patients showed cognitive impairment/developmental delay (CI/DD). The GM of ASDs with severe autism was characterized by an increase in Veillonella, a decrease in Monoglobus pectinilyticus and a higher microbial dysbiosis index (MDI) when compared to mild-moderate ASDs. Patients at risk for behavior problems and showing clinical symptoms were characterized by a GM with an increase of Clostridium, Eggerthella, Blautia, Intestinibacter, Coprococcus, Ruminococcus, Onthenecus and Bariatricus, respectively. Peptidoglycan biosynthesis and biofilm formation KEGGs characterized patients with clinical symptoms, while potential microbiota-activated PPAR-γ-signaling was seen in CI/DD patients. This evidence derived from GM profiling may be used to further improve ASD understanding, leasing to a better comprehension of the neurological phenotype.

Structural and functional whole brain changes in autism spectrum disorder at different age stages.

Autism spectrum disorder (ASD) is a developmental disorder involving regional changes and local neural disturbances. However, few studies have investigated the dysfunctional phenomenon across different age stages. This study explores the structural and functional brain changes across different developmental stages in individuals with ASD, focusing on childhood (6-12 years), adolescence (12-18 years), and adulthood (18 + years). Using a comprehensive set of neuroimaging metrics, including modulated and non-modulated voxel-based morphometry (VBM), regional homogeneity (ReHo), amplitude of low-frequency fluctuation (ALFF), and fractional ALFF (fALFF), we identified significant stage-specific alterations in both VBM and functional measurements. Our results reveal that ASD is associated with progressive and stage-specific abnormalities in brain structure and function, with distinct patterns emerging at each developmental stage. Specifically, we observed significant modulated VBM reductions in the precuneus, lentiform nucleus, and inferior parietal lobule, accompanied by increases in the midbrain and sub-gyral regions. Moreover, we observed unmodulated VBM increment in regions including lentiform nucleus and thalamus. Functionally, ReHo analyses demonstrated disrupted local synchronization in the medial frontal gyrus, while ALFF and fALFF metrics highlighted altered spontaneous brain activity in the sub-gyral and sub-lobar. Finally, correlation analyses revealed that stage-specific findings are closely linked to clinical social- and behavior-related scores, with VBM in the inferior parietal lobule and putamen as well as ReHo in supplemental motor area being significantly associated with restrictive repetitive behaviors in childhood. These findings underscore the importance of considering age-specific brain changes when studying ASD and suggest that targeted interventions may be necessary at different developmental stages.

Understanding Emotional Outbursts: A Cross-Cultural Study in Latin American Children with Autism Spectrum Disorder

Objectives: One of the behavioral problems strongly associated with emotional dysregulation (ED) in ASD is emotional outbursts (EOs) characterized by a pattern of challenging behavior that varies across individuals and across time. Cultural factors can modulate the expression of EOs. This study aimed to characterize the profile of emotional outbursts (EOs) in children with autism spectrum disorder (ASD) across various countries in Latin America and to identify clinical, emotional, and contextual factors that contribute to the onset and frequency of EOs within this diverse sample. Methods: A cross-sectional and cross-cultural study was conducted between 2023 and 2024 comprising samples from five countries in the Latin American Network for Autism-REAL: Argentina, Brazil, Chile, Uruguay, and the Dominican Republic. We studied 689 children with ASD (age x = 8.7 ± 2.6 years) using the Emotional Outburst Questionnaire (EOQ). Results: We identified different types of EO among children with ASD in our sample. The most frequent was the ‘behavioral indicators of emotion’ (52.0%) followed by ‘increased motor activity’ (28.3%), ‘non-speech vocalizations’, (27.6%), ‘mild verbal aggression’ (23.8%), and ‘avoidance’ (21.5%). Children in a bad mood or having a bad day or experiencing irritability were the most significant factors that increased the likelihood of EOs. Conclusions: Our results revealed that irritability is an important trigger for EOs and should not be disregarded or underestimated when monitoring the mental health of children with ASD.

A Scoping Review: Risk of Autism in Children Born from Assisted Reproductive Technology

Background/Objectives: As the incidence of autism spectrum disorder (ASD) and use of assisted reproductive technologies (ART) continue to rise in tandem, their relationship to one another, as well as the general risks of ART, are increasingly being explored. The purpose of this review is to summarize the literature on ASD risk, as well as the risks for other neurological and neurodevelopmental disorders, in children born following the implementation of ART. Methods: Here we review studies published between 2000−2023 that elucidate relationships between ASD and some of the most common forms of ART, including in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), using fresh vs. frozen embryo transfer. Articles were identified by searching Google Scholar and PubMed databases. Results: Though some studies report adverse neurodevelopmental outcomes in ART-conceived children, such as ASD, attention-deficit/hyperactivity disorder (ADHD), and cerebral palsy, a majority of studies do not show a significant association between ART and neurodevelopmental disorders. Additionally, many confounding factors like multiple and preterm births, underlying infertility, and advanced parental age have been discussed, highlighting the need for studies that effectively control for these confounders. Potential mechanisms implicated in the pathogenesis of ASD, including epigenetic mechanisms of gene expression, that may be related to ART procedures, are also discussed. Conclusion: ART may pose a low additional risk to development of ASD, but confounding factors likely account for most of this risk. Several steps in the process of ART may cause epigenetic changes that are implicated in the development of ASD.

Reliability of Theory of Mind Tasks in Schizophrenia, ASD, and Nonclinical Populations: A Systematic Review and Reliability Generalization Meta-analysis.

Though theory of mind (ToM) is an important area of study for different disciplines, however, the psychometric evaluations of ToM tasks have yielded inconsistent results across studies and populations, raising the concerns about the accuracy, consistency, and generalizability of these tasks. This systematic review and meta-analysis examined the psychometric reliability of 27 distinct ToM tasks across 90 studies involving 2771 schizophrenia (SZ), 690 autism spectrum disorder (ASD), and 15,599 nonclinical populations (NC). Findings revealed that while all ToM tasks exhibited satisfactory internal consistency in ASD and SZ, about half of them were not satisfactory in NC, including the commonly used Reading the Mind in the Eye Test and Hinting Task. Other than that, Reading the Mind in the Eye Test showed acceptable reliability across populations, whereas Hinting Task had poor test-retest reliability. Notably, only Faux Pas Test and Movie for the Assessment of Social Cognition had satisfactory reliability across populations albeit limited numbers of studies. However, only ten studies examined the psychometric properties of ToM tasks in ASD adults, warranting additional evaluations. The study offered practical implications for selecting ToM tasks in research and clinical settings, and underscored the importance of having a robust psychometric reliability in ToM tasks across populations.

Building and testing of a robotic intervention framework to enhancing the social engagement of children with autism spectrum disorder

Purpose Humanoid robot intervention programmes for children with autism spectrum disorder (ASD) are being developed rapidly. This study aimed to develop and test a robotic intervention framework for children with ASD to ensure best practice. Methods In Phase I of this study, an initial framework was built based on a scoping review. This review aimed to identify the core elements conducive to effective robotic intervention programmes for children with ASD. In Phase II, the content of the initial framework was verified using a case study approach in a real-life setting. Results The robotic intervention framework, which comprised three domains, was built and tested. The three domains were robot-, child-, and programme-related factors. Elements within each domain were identified and verified in real-life contexts. Conclusions The proposed framework will enhance evidence-based practice in robotic intervention programmes. However, further clinical testing is warranted to enhance the efficacy and validity of this framework. A good programme design incorporating all essential elements for effective intervention will ensure the success of the training programme for children with ASD.

Superior temporal sulcus folding, functional network connectivity, and autistic-like traits in a non-clinical population.

Autistic-like traits (ALT) are prevalent across the general population and might be linked to some facets of a broader autism spectrum disorder (ASD) phenotype. Recent studies suggest an association of these traits with both genetic and brain structural markers in non-autistic individuals, showing similar spatial location of findings observed in ASD and thus suggesting a potential neurobiological continuum. In this study, we first tested an association of ALTs (assessed with the AQ questionnaire) with cortical complexity, a cortical surface marker of early neurodevelopment, and then the association with disrupted functional connectivity. We analysed structural T1-weighted and resting-state functional MRI scans in 250 psychiatrically healthy individuals without a history of early developmental disorders, in a first step using the CAT12 toolbox for cortical complexity analysis and in a second step we used regional cortical complexity findings to apply the CONN toolbox for seed-based functional connectivity analysis. Our findings show a significant negative correlation of both AQ total and AQ attention switching subscores with left superior temporal sulcus (STS) cortical folding complexity, with the former being significantly correlated with STS to left lateral occipital cortex connectivity, while the latter showed significant positive correlation of STS to left inferior/middle frontal gyrus connectivity (n = 233; all p < 0.05, FWE cluster-level corrected). Additional analyses also revealed a significant correlation of AQ attention to detail subscores with STS to left lateral occipital cortex connectivity. Phenotyping might affect association results (e.g. choice of inventories); in addition, our study was limited to subclinical expressions of autistic-like traits. Our findings provide further evidence for biological correlates of ALT even in the absence of clinical ASD, while establishing a link between structural variation of early developmental origin and functional connectivity.

Early Adversity Affects Cerebellar Structure and Function-A Systematic Review of Human and Animal Studies.

Recent research has highlighted cerebellar involvement in cognition and several psychiatric conditions such as mood and anxiety disorders and schizophrenia. Attention-deficit/hyperactivity disorder and autism spectrum disorder have been linked to reduced cerebellar volume as well. Cerebellar alterations are frequently present after early adversity in humans and animals, but a systematic integration of results is lacking. To this end, a systematic literature search was conducted in PubMed, Web of Science, and EBSCO databases using the keywords "early adversity OR early life stress" AND "cerebellum OR cerebellar." A total of 45 publications met the inclusion criteria: 25 studies investigated human subjects and 20 reported results from animal models. Findings in healthy subjects show bilateral volume reduction and decreased functional connectivity within the cerebellum and between the cerebellum and frontal regions after adversity throughout life, especially when adversity was assessed with the Childhood Trauma Questionnaire. In clinical populations, adults demonstrate increased cerebellar volume and functional connectivity after adversity, whereas pediatric patients show reduced cerebellar volume. Animal findings reveal cerebellar alterations without necessarily co-occurring pathological behavior, highlighting alterations in stress hormone receptor levels, cell density, and neuroinflammation markers. Cerebellar alterations after early adversity are robust findings across human and animal studies and occur independent of clinical symptoms.

Examining epigenetic aging in the post-mortem brain in attention deficit hyperactivity disorder

Mathematical algorithms known as “epigenetic clocks” use methylation values at a set of CpG sites to estimate the biological age of an individual in a tissue-specific manner. These clocks have demonstrated both acceleration and delays in epigenetic aging in multiple neuropsychiatric conditions, including schizophrenia and neurodevelopmental disorders such as autism spectrum disorder. However, no study to date has examined epigenetic aging in ADHD despite its status as one of the most prevalent neurodevelopmental conditions, with 1 in 9 children having ever received an ADHD diagnosis in the US. Only a handful of studies have examined epigenetic age in brain tissue from neurodevelopmental conditions, with none focused on ADHD, despite the obvious relevance to pathogenesis. Thus, here we asked if post-mortem brain tissue in those with lifetime histories of ADHD would show accelerated or delayed epigenetic age, as has been found for other neurodevelopmental conditions. We applied four different epigenetic clocks to estimate epigenetic age in individuals with ADHD and unaffected controls from cortical (anterior cingulate cortex, N = 55) and striatal (caudate, N = 56) post-mortem brain tissue, as well as peripheral blood (N = 84) and saliva (N = 112). After determining which epigenetic clock performed best in each tissue, we asked if ADHD was associated with altered biological aging in corticostriatal brain and peripheral tissues. We found that a range of epigenetic clocks accurately predicted chronological age in all tissues. We also found that a diagnosis of ADHD was not significantly associated with differential epigenetic aging, neither for the postmortem ACC or caudate, nor for peripheral tissues. These findings held when accounting for comorbid psychiatric diagnoses, substance use, and stimulant medication. Thus, in this study of epigenetic clocks in ADHD, we find no evidence of altered epigenetic aging in corticostriatal brain regions nor in peripheral tissue. We consider reasons for this unexpected finding, including the limited sampling of brain regions, the age range of individuals studied, and the possibility that processes that accelerate epigenetic age may be counteracted by the developmental delay posited in some models of ADHD.

Influence of temperament on early neurodevelopmental disorders: a systematic review protocol

IntroductionSeveral studies have highlighted the role of temperament as a relevant construct to understand the wide variability observed in neurodevelopmental disorders (NDDs) such as autism spectrum disorder and attention deficit...

Trend in Emergency Department Visits Among Children and Youth With Autism Spectrum Disorder

Trend in Emergency Department Visits Among Children and Youth With Autism Spectrum Disorder

Analyzing equitable access in a remote socio-enactive setting: A case study

Ubiquitous Computing as proposed by Mark Weiser in 1991 creates a huge diversity of interaction possibilities through, e.g., sensors, actuators, physiological data, wearables, to name but a few. Providing equitable access to everyone in these unpredictable interaction environments is already a challenge. Additionally, the Covid-19 pandemic brought new challenges to these scenarios by adding remote interactions. Ubiquitous computing remote environments should provide equitable access to everyone, including people with disabilities. To better understand such issues and contribute to their solution, we studied and evaluated access in the Aquarela Virtual workshop using the UbiAccess evaluation instrument. This workshop offered a remote ubiquitous computing environment within the context of a kindergarten school. We used thematic analysis to understand the interaction needs of an Autistic Spectrum Disorder (ASD) child during the workshop. This paper extends previous research with additional data and its analysis - in particular, concerning information provided by the teacher responsible for the specific classroom, and data on the ASD child contributing to: 1) Reflections about remote ubiquitous environments and equitable access; 2) Benefits of ubiquitous computing interactions as regards the ASD child; and 3) Coverage of the UbiAccess evaluation instrument.

A meta-analysis of the prevalence of neuropsychiatric disorders and their association with disease onset in myotonic dystrophy.

There is a high prevalence of neuropsychiatric disorders in myotonic dystrophy types 1 and 2 (DM1 and DM2), including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in DM1, and depression and anxiety in both DMs. The aim of this systematic review and meta-analysis was to estimate the prevalence of ASD, ADHD, depression and anxiety in the population with DM, and their association with disease onset. A systematic search of Medline, Scopus, Web of Science, and the Cochrane Library was conducted from inception to November 2023. Observational studies estimating the prevalence of these disorders in DM1 or DM2 were included. A meta-analysis of the prevalence of these disorders and an association study with disease onset by prevalence ratio meta-analysis were performed. Thirty-eight studies were included. In DM1, the prevalence of ASD was 14%, with congenital onset being 79% more common than juvenile onset, while the prevalence of ADHD was 21%, with no difference between congenital and juvenile onset, and the prevalence of depression and anxiety were 14% and 16%. Depression was more common in the adult onset. Finally, the prevalence of depression in DM2 was 16%. A higher prevalence of neuropsychiatric disorders is observed in individuals with DM1 and DM2 than in the general population. Therefore, actively screening for congenital and juvenile neurodevelopmental disorders in DM1 and emotional disorders in DM1 and DM2 may improve the quality of life of those affected.